Biology WA ATAR Units 3 & 4 Student Book With 1 X 26 Month NelsonNetBook Access Code
Biology WA ATAR Units 3 & 4 Student Book With 1 X 26 Month NelsonNetBook Access Code
Biology WA ATAR Units 3 & 4 Student Book With 1 X 26 Month NelsonNetBook Access Code
Biology WA ATAR Units 3&4 © 2020 Cengage Learning Australia Pty Limited
1st Edition
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CONTENTS
Foreword by Lyn Beazley vi Activity and investigation 77
Chapter review questions 50 5.4 Multiple alleles for one gene 137
3.2 Structural properties of the DNA molecule 56 Activity and investigation 159
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iv
6 BIOTECHNOLOGY – ITS TOOLS AND 8.4 Evidence for the theory of evolution:
TECHNIQUES 168 the fossil record 262
Practice exam questions 213 9.1 Evolution and its mechanisms 293
8.3 Evidence for the theory of evolution: 10.2 Negative feedback: the mechanism
comparative genomics 254 for maintaining homeostasis 338
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v
Chapter review questions 369 13.1 The life cycle of a pathogen 431
11.4 Adaptations for water balance 379 Chapter review questions 467
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Reviewer
Jane Brandenburg
Jane fills a number of roles at a top-ranked Western Australian school, including Learning Coordinator, Creativity
Activity Service Coordinator and Year Coordinator. She is also a teacher of Years 11 and 12 Biology and Human
Biology, and of Science and Mathematics, including the International Baccalaureate Middle Years Programme.
Consultant
Helen Lydon
Helen Lydon is an advocate for the study of biology in Western Australia, where she has taught and examined Biology
and other Sciences for over twenty years in both private and public schools, and chaired advisory committees for the
School Curriculum and Standards Authority. She is delighted to collaborate with Mya on this outstanding new text.
AUTHOR’S ACKNOWLEDGEMENTS
I am sincerely appreciative of my very supportive and reassuring husband (David), our three kids (Saasha, Sophie
and Justin) and our dog (Leo). Their random acts of kindness (cooking and coffees, Reabold Hill and riding), endless
patience waiting for me to finish writing the various sections, and hugs eased any stress and made this experience
achievable and enjoyable. Thank you – you all bring sunshine into my life.
The students, colleagues and scientists I have worked with, past and present, have all taught and inspired me,
especially Ant, who had faith in my ability.
I am in awe of the beauty and resilience of our natural biological world. Nothing humans have created even comes
close. I hope this book plays a part in preserving it, and I hope it will inspire passionate science students to solve big
biological problems, such as infectious disease control, wise biotechnology advancement, and ecosystem rejuvenation.
Special thanks go to the following scientists, who even when busy made time for me, vastly improving the
integrity of the material presented here: Lyn Beazley, extraordinary former chief scientist of WA and inspiration for
many of us; Pauline Charman, former Education Outreach Manager, Harry Perkins Institute of Medical Research, a
science educator with a unique skill set and knowledge in the area of biotechnology; Stephen D Hopper AC, Professor
of Biodiversity, Centre of Excellence in Natural Resource Management, School of Agriculture & Environment, UWA;
Professor John S Mackenzie, Emeritus Professor, Curtin University, Co-initiator and Vice-chair of One Health, world
expert in Ross River virus and Australian bat lyssavirus, and Consultant for the WA Biosecurity Council and WHO
(Steering Committee of the Global Outbreak Alert and Response Network); Dr Peter Mawson, Perth Zoo Science
Program Leader, Department of Biodiversity, Conservation and Attractions, Western Australian Government; and
Samantha Setterfield, Associate Professor, School of Biological Sciences, University of Western Australia.
The support of the Harry Perkins Institute (a medical research facility in Perth, WA, and an educational outreach
program for high school students) and Plant Energy Biology (PEB), who have so many innovative and collaborative
projects happening around the globe) has been greatly appreciated.
Lastly, thank you to Jeanette Birtles and John Birtles (editors), Jane Fitzpatrick (proofreader), Helen Lydon
(consultant) and Jane Brandenburg (reviewer). Their queries and advice have helped shape the book into a clearer and
more up-to-date and reliable resource.
Each page has been carefully planned so as to include all the information needed without appearing cluttered or
overwhelming. Navigating through each chapter is easy. Activities and/or practical investigations have been included
for each chapter, connecting the conceptual and the practical aspects of biology. Below is a list of the features to be
found in each chapter so that students can navigate and fully utilise this resource.
SCIENCE INQUIRY
including starter questions and the learning
CONTINUITY
outcomes from the SCSA Biology ATAR Syllabus
CHAPTER 1 CONTENT
SKILLS By the end of this chapter, you will be able to use the following
OF SPECIES
science inquiry skills.
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Question sets
concepts and theories Osmoregulation refers to the gain and loss of water and the concentration of solutes. Osmosis is the
passive movement of water across a membrane. Solutions can be isotonic (of equal concentration,
water movement is equal or net zero), hypertonic (more concentrated outside the membrane, water
moves out) or hypotonic (less concentrated outside the membrane, water moves in).
REMEMBERING
1 Why is water essential to life?
2 Name and describe the three types of
5 a Explain the difference between solute
and solvent.
b Why might water be known as the
universal solvent?
throughout each
are highlighted in chapter enable
solution that may surround a cell.
3 State three main functions of the kidney. APPLYING
The kidneys UNDERSTANDING 6 Draw a diagram of a nephron and label
Kidneys are essential organs involved in maintaining a constant internal environment. They play an 4 Differentiate between filtration and the main parts.
the collecting ducts are sites for the reabsorption of water and ions. Reabsorption is the process
Proximal Distal
regular opportunities
tubule tubule
Glomerulus
Renal
artery Renal
pelvis
Collecting duct Most aquatic animals, Mammals, most adult amphibians, Birds, insects, many
concepts.
To ureter
FIGURE 11.2 Three types of nitrogenous wastes and where they occur, which relates to water availability in the
FIGURE 11.1 Structures of the human kidney and nephron substances that are reabsorbed (blue represents organism’s environment
water; grey represents salts and other substances)
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YTIVITCA
You will need
What to do
1 Weigh out 1 g of rice.
/0.4/yb/sesnecil/gro.snommocevitaerc//:ptth ecneciL
2 Count the grains.
NOITAGITSEVNI
• are relatively small 2–1000 μm bathroom sinks. In this investigation, you will test the degree of contamination of four different fomites,
• are eukaryotes, with a membrane-bound nucleus by swabbing the objects and counting the number of bacterial colonies that grow on agar plates.
• are mostly unicellular
• can reproduce sexually and/or asexually Aim
• can exist in different forms during their life cycle, depending on their classification (for To compare the degree of contamination of four different fomites
Can you explain why it is currently classified as a protist instead of a fungus? • Sticky tape
(Hint: Phytophthora cell walls are made of cellulose. Its similarity to fungi is considered to • Disinfectant solution
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466 UNIT 4 | BIOLOGY WA ATAR UNITS 3 & 4 CHAPTER 13 | Spread of pathogens 467
intermediaries) or suspended air particles. exploit the extra bodies of water bodies left Applying
after floods and rains as breeding grounds, 7 Discuss the possible impacts of global climate change on the distribution of mosquito-borne
• Pathogens have adaptations that facilitate
increasing the area in which they can diseases.
their transmission by various mechanisms,
including through direct contact, contact breed and the number of offspring they can 8 Describe two major differences between the pathogen that causes malaria and the pathogen that
• The spread of a disease can be influenced pathogen populations. The environment 10 Differentiate between an epidemic and a pandemic.
is changing at a faster rate due to climate 11 Explain why tuberculosis spreads easily in urban areas of poor countries.
Airborne droplet A tiny particle of liquid proboscis, a tube-like mouthpiece, into the B causes a high mortality rate in humans D fluctuate.
suspended in the air as part of an aerosol skin and blood vessel of a host to feed on C cannot replicate in humans
(solution in air) that is sneezed or coughed into blood; during the bite, the mosquito’s saliva is D has the same protein coat as an existing
4 An outbreak of a serious new strain of
air; a droplet can be suspended in an air current transferred to the host; the saliva exiting the strain.
influenza occurs on a cruise ship at sea. The
for a period of time before being inhaled or mosquito, or the blood being ingested by the [Q16 2018 SCSA]
best method of preventing the influenza
landing on a surface such as a table mosquito may potentially carry pathogens
2 A pathogen that infected plants has cells from spreading to populations on land is to:
Anaerobic bacteria Bacteria that will only Climate change The current climate change with a true nucleus, mitochondria and a cell A keep all people on the ship until
germinate and multiply in hypoxic (low oxygen) occurring on Earth is an increase in global wall made of chitin and is therefore a: everyone has recovered
conditions average air and ocean temperature, rising global A bacterium B send crew members ashore to obtain
Antibiotic An antimicrobial chemical that sea levels, long-term sustained widespread B fungus antiviral medication
inhibits or destroys bacteria reduction in snow and ice cover, and changes in C protist C disinfect all eating and recreational
atmospheric and ocean circulation and regional D virus. areas on the ship
Asymptomatic Refers to the state of being
weather patterns, which influence seasonal [Q17 2017 SCSA] D bring in medical personal to vaccinate
infected but not experiencing any signs or
rainfall conditions in global average air and people on the ship.
symptoms 3 In the course of an influenza epidemic, the
ocean temperature, rising global sea levels, long- [Q8 2016 SCSA]
Blood feed The method used by female number of susceptible hosts will:
term sustained widespread reduction of snow
mosquitoes to ingest blood: they insert their
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NELSONNET
NelsonNet is your protected portal to the premium digital resources for Nelson textbooks, located at
WS www.nelsonnet.com.au. Once your registration is complete, you will have access to comprehensive
digital resources that supplement each chapter, including:
• worksheets
• practice exams
• activities
• useful weblinks
• answers.
Icons in your NelsonNetBook will link you to these resources.
Teachers will have access to these resources plus chapter tests, answers to practice exams, practice
tests, videos of lab investigations (provided by Southern Biological), chapter PowerPoints, syllabus mapping
and teaching plan documents, and a PDF version of the student book.
NELSONNETBOOK
The NelsonNetBook is a customisable, interactive eBook that can be used online and offline. Accessible on desktops,
laptops, tablets and interactive whiteboards, it reproduces the student text in digital form. Annotate your eBook with
notes, highlights, weblinks and voice recordings, and access resources directly from the NelsonNet student website.
Teachers can share their personalised version of the eBook with the class or particular groups. It is also possible to
download an offline version of the book, and iPad and Android apps.
Disclaimer
Please note that complimentary access to NelsonNet and the NelsonNetBook is only available to teachers who
use this student book as a core educational resource in their classroom. Contact your Education Consultant for
information about access codes and conditions.
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ORPEICS - yrarbiL otohP ecneicS/segamI ytteG
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CONTINUITY
OF SPECIES
UNIT 3
1
1
SCIENCE INQUIRY CHAPTER 1 CONTENT
By the end of this chapter, you will be able to use the following
SKILLS science inquiry skills.
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2 UNIT 3 | BIOLOGY WA ATAR UNITS 3 & 4
1.1 INVESTIGATIONS
Investigations use a scientific process to answer a question, explore an idea or solve a problem. They
require activities such as planning a course of action, collecting data, interpreting data, reaching a
conclusion and communicating about these activities. They can involve observation, data collection,
research, field work, laboratory experimentation and manipulation of simulations. Investigations are
central to our understanding of the biological world.
Sometimes an important advance in science begins with a lucky accident. For example, after
hearing from milkmaids that people who contracted cowpox (a relatively harmless disease picked
up after working with cattle) were protected from deadly smallpox, the British physician Edward
Jenner effectively kickstarted the science of vaccination. Jenner used samples from open cowpox
sores on a dairymaid’s hands to inoculate a young boy and protect him against smallpox. In this
process, he introduced a microorganism that caused a mild form of the disease, and it resulted in the
boy developing immunity. However, nearly 100 years would pass and significant research would be
required before scientists were able to show that microorganisms caused infectious disease. Lucky
accidental discoveries like this may begin a new field of research, but they need to be followed up by
carefully planned investigation.
Usually, advances in science come from a process of systematic observation and
experimentation, inductive and deductive reasoning, and the formation and testing of hypotheses
and theories. How these activities are carried out can vary greatly, but there are some common
factors that we will explore below. The process by which science advances is known as the scientific
method .
When an investigation has finished, it is good practice to check whether the findings align with
current theories. Theory can be used to explain experimental results. A theory is ‘a set of concepts,
claims and/or laws that can be used to explain and predict a wide range of related observed or
observable phenomena. Theories are typically founded on clearly identified assumptions, are testable,
produce reproducible results and have explanatory power.’
ATAR Biology Syllabus, Government of Western Australia,
Key concept
The main role of science is to observe, question and investigate the natural world. The scientific
method enables science to proceed.
Observations
Conclusions Hypotheses
Controlled experiments
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a SARS-CoV-2 b
RNA RNA
Surface of
susceptible cell
Activated
spike protein
Cell membrane
TMPRSS2
FIGURE 1.2 Scientists have found that the protein spikes on SARS-CoV-2 penetrate a cell by attaching to a host cell surface receptor protein
called the ACE-2 receptor. The enzyme TMPRSS2 facilitates virus entry. They are using this knowledge to develop an effective vaccine.
Forming a hypothesis
A hypothesis is a scientific statement, based on the available information, that can be tested by
experimentation. It can be thought of as ‘an educated prediction’. It should describe an expected
relationship between the independent and dependent variables in observable phenomena. Once you
have decided on your research question, what you are trying to find out, you need to turn it into a
hypothesis.
If your research question is in the form of ‘What effect does a new fertiliser have on root growth?’
it can be turned into a hypothesis such as, ‘If a new fertiliser is applied to a plant, then the rate of root
growth will increase’.
If the hypothesis is written correctly, the independent and dependent variables should be easy
to identify. Usually, an investigation will have one dependent variable and one independent variable
in each trial. A variable is a factor that can change. There may be several factors that can cause
change in a particular variable. To conduct a trial that produces valid results, only one of these factors,
the independent variable, should be manipulated (changed). The other factors, which need to
be kept consistent between the control group and the experimental group, are called the
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CHAPTER 1 | Science inquiry skills 5
controlled variables. The factor that changes as a result of the change in the independent variable
is called the dependent variable. It is the set of changes in the dependent variable that is observed,
measured and recorded and which becomes the investigation’s results. The results will either support
or not support the hypothesis. A sound hypothesis is falsifiable, and results that do not support the
hypothesis can be of as much value as those that do in accumulating scientific knowledge.
Even if your hypothesis meets these criteria, do not be surprised if you change or modify it during
the course of your investigation. In scientific research, the question you set out to answer is often only
a starting point for more questions.
For the hypothesis ‘If a new fertiliser is applied to a plant, then the rate of root growth will increase’,
are you able to determine the independent and dependent variables? (The term rate refers to change
in a quantity, usually per unit time. Root growth rate is likely to be measured in millimetres per day.) In
the first half of the hypothesis, we see that the factor to be varied by the investigator is the type of
fertiliser. This is the independent variable. In the second half of the hypothesis, we see that the factor
to be observed and measured is the rate of root growth, the dependent variable. A controlled variable
might be the amount of fertiliser added.
Key concept
A research question informs a hypothesis. A hypothesis describes the relationship between the
independent and dependent variables.
Planning
Keep the hypothesis and the purpose of the investigation clearly in mind during the planning of the
procedure. Your predictions about what you think may happen will help with your planning. It is
helpful to ask yourself some questions first.
• What data will you need to collect?
• What materials and equipment will you need?
• When and where will you collect the data?
• If you are working in a group, who will collect the data?
• Who will be responsible for record keeping?
• How will the data be analysed?
The data that you collect will always
include primary data, and will usually include
secondary data. Secondary data are data
collected by a person or group other than
the person or group using the data. Primary
data are data collected directly by the person
conducting the investigation.
Consider how you will analyse the data.
Will you need access to specific software,
such as a graphing or statistics package?
Keep a record of your planning. This should
go in your logbook. Writing down what
otohP ekaT/moc.kcotsrettuhS
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6 UNIT 3 | BIOLOGY WA ATAR UNITS 3 & 4
measure each numerical value in the appropriate units. For example, you might measure root length
in centimetres, or the weight of roots in grams.
Continuous variables can take any possible value, usually within a particular range. Length, time
and current are continuous variables. In the root growth example, root length is a continuous variable
because it can take any value within a range. A variable that can take only fixed values is called a
discrete variable. Data for discrete quantitative variables (e.g. number of electrons in an atom) are
usually whole numbers because the quantity cannot be broken into fractions. In the root growth
example, the number of roots is a discrete variable.
In some investigations, you may have qualitative measurements as data. Qualitative data can
include words or descriptions and can at times be subjective. For example, a chemical reaction may
lead to a colour change. You would usually describe the colour in words, such as ‘pink’ or ‘green’,
rather than using a number. Sometimes you use a combination of qualitative and quantitative data.
For example, you may describe roots as reaching a maximum length in centimetres (quantitative), but
growing in a particular direction or pattern (qualitative).
Once you have decided on the variables you will be measuring, you will be able to identify the
equipment and other resources you will need.
Risk assessment
You may be required to complete a risk assessment before you begin your investigation. Even if this is
not a requirement, it is a good idea to think about risks. You need to consider three things.
1 What are the possible risks to you, to other people, to property and to the environment?
2 How likely is it that there will be an injury or damage?
3 If there is an injury or damage, how serious are the consequences likely to be?
A ‘risk matrix’, such as Table 1.1, can be used to assess the severity of a risk associated with an
investigation. The consequences are listed across the top, from negligible to catastrophic,
and the likelihood of each consequence occurring increases as you look down the rows. A
negligible consequence may be getting clothes dirty or a very minor injury such as a scratch.
A marginal consequence might be a bruise from falling off a bike, or a broken branch in a tree.
A severe consequence could be a more substantial injury or a broken window. A catastrophic
consequence could be a death or the release of a toxin into the environment. In general, you need
to ensure that your investigation is low risk. You can use a risk matrix either for individual identified
risks, or for the investigation overall.
LIKELIHOOD
Once you have considered what the possible risks are, you need to think about what you will do
about them: what you can do to minimise them, and how you would deal with the consequences if
something did happen. This may be as simple as deciding to ‘Always wear a lab coat, gloves and safety
glasses’. You can use a risk assessment table similar to Table 1.2.
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CHAPTER 1 | Science inquiry skills 7
WHAT ARE THE RISKS INVOLVED IN DOING HOW CAN YOU MANAGE THESE RISKS TO
THIS EXPERIMENT? STAY SAFE?
The fertiliser might be spilled on clothes or skin during Wear a lab coat, gloves and safety glasses.
application. Clean up spills immediately.
Animal ethics
Activities that affect living organisms need to comply with the Australian Code for the Care and Use of
Animals for Scientific Purposes .
The main thrust of ethics is treating animals, other people and the environment with care and
Australian Code for
respect. If your investigation will be using humans, then you need to make sure you do not harm the Care and Use of
them, either physically or psychologically. If you are working with animals, then there are animal Animals for Scientific
ethics to consider. The welfare of animals used for the purposes of research is legislated by state and Purposes
Respect for animals
federal laws, and respect for all animals (vertebrate and invertebrate) used in research is of the utmost must underpin all
importance. When using animals for research, scientists must adhere to the ‘3Rs’. These are: decisions and actions
• Reduction alternatives: methods that obtain comparable levels of information from the use of involving the care
and use of animals for
fewer animals in scientific procedures, or more information from the same number of animals. scientific purposes. Read
• Refinement alternatives: methods that alleviate or minimise potential pain and distress, and about animal ethics
here.
enhance animal wellbeing.
• Replacement alternatives: methods that permit the given purpose of an activity or project to be
achieved without the use of animals or with the use of non-sentient animals or animals of a lower
sentient value (those that lack a nervous system).
kuhcnaP myskaM/moc.kcotSi
FIGURE 1.4 The use of animals for research purposes is governed by state and federal laws.
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8 UNIT 3 | BIOLOGY WA ATAR UNITS 3 & 4
CASE
STUDY
Animal ethics
Anyone working with animals in Australia is vaccine; computer simulations can be fed real-
bound by guidelines and laws to safeguard world data to generate predicted outcomes.
animals. Research is conducted on animals Animals such as mice, guinea pigs, rats, pigs
other than humans for several reasons: some and non-human primates are commonly used
animals have lower sentience; also, the time as models for research because, as mammals,
between generations is shorter in some animals,
they share a lot of genetic code with humans
which reduces the waiting time for results. The
and have a likelihood of responding to tests in
precise meaning of sentience is contested in a similar way. A range of vaccines, infectious
science and in philosophy, but it can be defined
agents and chemicals have been tested on
as the ability to experience consciousness, animals such as these to find out the possible
pleasure, self-awareness and pain. Some effects on humans.
invertebrates (such as jellyfish) do not have a Since the discovery of the susceptibility
central nervous system that is as sophisticated
of ferrets (Mustela putorius furo) to influenza
as that of humans, and they are considered tovirus in the 1930s, they remain one of the
have a lower sentience than humans. most useful animal models for studying
RSPCA Australia promotes ethical influenza infection. They have a similar
treatment of animals as observing what should,
respiratory system to that of humans, their
rather than what could, be done to animals. lung physiology is similar, they are susceptible
Scientists should have an understanding of the
to similar viruses, and (unlike guinea pigs and
pain physiology of the animals used in their mice) ferrets sneeze, experience fever and
research. They also need to be able to recognise
produce nasal discharge.
normal and abnormal behaviour, so they can More recently, COVID-19 researchers have
assess an animal’s welfare and make an ethical
been using ferrets for the testing of infection
decision about whether or not to continue a trial.
and vaccines. The research team of Dr Rob
A model is ‘a representation that Grenfell, Director of Health and Biosecurity,
describes, simplifies, clarifies or provides an
CSIRO, aims to understand how the infection
explanation of the workings, structure or progresses and how it behaves so as to be able
relationships within an object, system or idea’.
to create an effective vaccine. However, ferrets
feel pain in the same way we do, so strict ethical
ATAR Biology Syllabus, Government of Western Australia,
A model can be used to test outcomes that animals in Australian research laboratories
might be expected in the real world: for must be followed. The guidelines are to be found
example, an animal that has a similar immune in the Australian Code for the Care and Use of
response to humans can be used to test a Animals for Scientific Purposes.
Key concept
When using animals for research, scientists must adhere to the 3Rs: reduction, refinement and
replacement alternatives.
Procedure
The procedure is a planned set of steps enabling you to approach your research systematically. It is
important to describe clearly what you plan to do (noting any modifications you make) so you can review
the procedure later and communicate it to others. It is written in the past tense. A fellow student should
be able to follow your procedure and reproduce the results you have recorded. Let’s examine an exemplar
procedure for a given hypothesis. The first task is identifying the independent variable (the variable that
you will vary), the dependent variable (the variable you will measure) and the controlled variables (those
you will keep constant). (Note: fungicides are chemicals that are used to treat fungal diseases, such as rust
in plants. The symptoms of rust include orange-brown patches on the leaves of affected plants.)
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CHAPTER 1 | Science inquiry skills 9
HYPOTHESIS If a particular brand of fungicide is applied to the plant, then symptoms of rust will
disappear.
INDEPENDENT Type of fungicide
VARIABLE
DEPENDENT Extent of symptoms (orange-brown patches)
VARIABLE
CONTROLLED Volume of water used, time of day for watering plants, plant species, ambient temperate,
VARIABLES soil type, light conditions
PROCEDURE 1 One hundred plants of the same species infected with the same species of rust
(fungus) were obtained. All individual organisms had a similar leaf area of orange-brown
patches.
2 Fifty plants were treated with the fungicide and 50 plants were left untreated.
3 Other than presence or absence of the fungicide, the conditions listed as ‘controlled
variables’ were the same for both the experimental and control groups.
4 After a set time, each plant was examined to check the number and size of
orange-brown patches.
5 The results were recorded in an appropriate table.
6 Repeat trials were conducted, and again the results were recorded. Averages of the
number and size of orange-brown patches were calculated for the fungicide group and
the non-fungicide group.
Once you have written a procedure, a checklist is useful to ensure your procedure has been
written correctly. Check that:
• you have a relatively large sample size
• the independent variable will be present or varied in the experimental group, but absent or kept
constant in the control group
• all other variables will be kept constant
• data will be collectable within the time frame you have available
• the method for measuring the dependent variable and the units of measurement are clear
• multiple trials will be conducted and an average will be calculated.
Key concept
Good design of an investigation is systematic and clear. It includes a procedure, materials, data
collection, risk assessments and ethical considerations.
TABLE 1.3 Results of investigation into soil fertiliser and wheat yield
6 Column (vertical bar) and bar (horizontal bar) charts are useful for comparing two data sets in
which at least one data set is qualitative. Examples would be average root length varying with
different types of fertiliser, or the number of endangered species in the different states and
territories of Australia. The bars do not touch (see Figure 1.6, page 12). However, do not use a
column or bar chart to try to show a mathematical relationship between variables.
7 The independent variable measurements are on the x axis. The axis is labelled, and the units are
included in brackets [e.g. Time (years)].
8 The dependent variable measurements are on the y axis. Again, the axis is labelled and the units
are included in brackets [e.g. Length (cm)].
9 Include a title to help the reader determine what the graph is showing. The title should
include the variables involved and, when appropriate, the specific time over which the
experiment was conducted (e.g. ‘The effect of temperature on the amount of sugar dissolved
in tea after 2 minutes’).
10 The graph should take up more than 50% of the graph space provided. The scale should
be worked out to maximise the filling of the graph space, while allowing some space for
extrapolation of data. The data points should not extend outside of the given graph space. The
intervals can be worked out by dividing the range of data by the number of available intervals on
the axis. In Figure 1.7 (page 13), you will see an example of a set of data points for the investigation
on soil fertiliser and wheat yield.
The range of the data is 0 to 100 kg/ha on the x-axis and 0 to 70 bushels/ha on the y-axis. There
are 12 graph intervals on the x-axis and 16 graph intervals on the y-axis. Allowing some room for
extrapolation within the graph space available, using 10 of the 12x-axis intervals for 100 units of
data, and 14 of the 16 y-axis intervals for 70 units of data works well.
If the number of intervals on the y-axis is 6, to allow some room for extrapolation, this could be
reduced to 5 intervals. Each interval thus represents 20 kg/ha.
As a guideline, use sensible interval values (such as 1, 2, 5, 10 or 50) to make the graph easy to
plot and interpret. Poorly spaced scales can lead to inaccurate readings. Always start from zero.
On rare occasions, to manipulate the scale to fit, you may need to ‘break’ the axis after zero and
then select equal intervals for the scale after the break.
11 When showing multiple sets of data on the same set of axes, a key should be used. You can use
symbols such as Δ, × or ο. The name of the data set that each line on the graph represents can be
written near it.
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5 Interpolation involves reading points, other than data points, within the region in which
you have data. It is a prediction made between two known data points. Linear extrapolation
involves reading points other than data points in the region beyond your measured points.
Interpolation is more reliable than extrapolation, because it involves a prediction within
the range of the known data points. Linear extrapolation is an estimation determined by
extending the last line, using the gradient of the last two data points if there is a relationship
between the variables. For the purposes of this course, when a relationship between the
independent and dependent variables has been established, extrapolation is done by
extending the line joining the last two data points for a short distance with a dotted line.
Note that many scientists, however, extrapolate by extending the line of best fit. If one of
the last two points is an outlier, the gradient of the line connecting them will not be a good
indicator of the trend. An outlier is a data point that does not fit the pattern shown by other
measured data points. The line of best fit is a line ruled through the data points with an equal
number of data points either side of it. It can be created mathematically for more accuracy,
and published scientific papers often contain examples of this technique.
20
0
1 2 3 4 5 6 7 8 9 10 11 12 13 14
Day number
Standard deviation
Standard deviation
)mc( htgnel toor ni egnahC
FIGURE 1.6 Bar graph of two data sets, with amount of uncertainty indicated by the error bar at the top of each
data set
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CHAPTER 1 | Science inquiry skills 13
80
70
Continuous variation: height of a class of Year 12 students
60 8
)ah/slehsub( dleiy taehw egarevA
7
50
6
stneduts fo rebmuN
5
40
4
30
3
20 2
Key
1
Interpolation
10 Extrapolation
0
08
55
07
58
09
56
57
06
1
1
1
1
1
<
<–
<–
<
<
<
<
<–
–0
–0
–0
–5
–5
0 20 40 60 80 100 120
56
07
55
51
71
81
81
61
1
1
Fertiliser application (kg/ha) Height (cm)
FIGURE 1.7 Graph demonstrating interpolation and FIGURE 1.8 Histogram showing continuous variation in height
extrapolation from the results of the investigation on
soil fertiliser and wheat yield. Interpolation indicated
62 bushels/ha. Extrapolation indicated 74 bushels/ha.
Key concept
Interpolation is prediction of a data point within the range of the known data points.
Extrapolation is prediction of a data point outside the range of the measured data.
Discussion
The discussion needs to include an evaluation of the procedure and the results. It can be broken into
sections such as the following.
1 An evaluation of the reliability and validity of the procedure and the accuracy of the results
You can almost always make suggestions to improve the procedure.
Reliability is the degree to which an assessment instrument or protocol consistently and
repeatedly measures an attribute and achieves similar results for the same population.
When you repeat an experiment and get the same results, the data are considered reliable.
Reliable data can be obtained by repetition and replication if the procedure is valid and good
experimental technique is used. Repetition involves multiple trials within the same investigation
or using a large sample size. Replication is the same investigation being conducted several
times, possibly by more than one investigator. An average (mean) can often be calculated
from the quantitative results obtained by both repetition and/or replication. This can reduce
anomalous data/outliers.
Validity is the extent to which tests measure what was intended, and the extent to which data,
inferences and actions produced from tests and other processes are accurate. Valid data can
be achieved by identifying the variables that should be controlled and then controlling them. It
can also be gained by the use of a control group. A control refers to a standard or group that is
the same as the experimental group but for which the independent variable does not vary. The
purpose of the control group is to ascertain that the cause of any change in the experimental
group is due to change in the one independent variable.
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Accuracy is the extent to which a measurement result represents the quantity it purports
to measure; an accurate measurement result includes an estimate of the true value and an
estimate of the uncertainty. It is the degree of closeness of a measurement of a quantity to its
actual true value.
2 A discussion of the ways in which measurement error may have affected the data
Measurement error is the difference between the experimental result and its true value.
Systematic error, mistakes and random error can all contribute to measurement error.
Systematic error is error that is due to instrument accuracy and use; for example, the failure
to zero an instrument before use or using the wrong type of instrument for the investigation.
Reading an instrument from a consistent but non-90° angle can produce this type of error. A
potometer may leak water and indicate a higher rate of transpiration than is correct. If a student
consistently reads the volume of a liquid at the same but wrong part of the meniscus, there will
be systematic error. Systematic error can shift measurements in a consistent direction. This will
have an impact on the reliability of the results, because if the investigation is repeated without the
error, the results will not be the same.
Mistakes, or avoidable measurement error, may arise from carelessness or incorrect use of an
instrument. If a student knows to measure a water level at the bottom of the meniscus, but does
not take care that their eye is level with the meniscus, avoidable measurement error can occur.
Such error will also affect the results.
Finally, random error may occur. The only way to reduce this type of error is to increase the
sample size or the number of trials.
3 Future applications and implications of the investigation.
Key concept
The discussion and conclusion critically evaluate the procedure and results of an investigation,
discussing their reliability, validity and accuracy, and, when relevant, suggest ways the
investigation could be improved.
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CHAPTER 1 | Science inquiry skills 15
Writing reports
A report is a formal and carefully structured account of your research. It is based on the data and
analysis in your logbook. However, the report is a summary. It contains only a small fraction of what
appears in the logbook. Your logbook contains all your ideas, rough working and raw data. The report
typically contains none of this.
A report consists of several distinct sections, each with a particular purpose. It usually includes
the following:
• Introduction
• Procedure
• Results and analysis
• Discussion
• Conclusion
• Acknowledgements
• References
• Appendices.
Reports are always written in the past tense, because they describe what you have done.
Introduction
The introduction tells the reader why you did the investigation and what your research question and
hypothesis is. This is the place to explain why your research is interesting or important.
The introduction also provides any background information needed to be able to understand the
rest of the report. This is the place to summarise any existing theories. You need to do this to put your
hypothesis into context. You should also summarise any similar investigations. All of this should be
correctly referenced, as described in the section on referencing (page 16).
Procedure
The procedure describes what you did. It summarises what you measured and how you measured
it, step by step. Write your procedure using sentences, not dot points. There should be enough
detail for another student to be able to replicate the experiment. Remember that it needs to be
written in past tense. For example, you would write, ‘the length was measured’, not ‘measure the
length’. Include any diagrams, such as apparatus set-ups, that are needed to make your procedure
clear. The diagrams in your logbook will usually be rough sketches. The diagrams in your report
should be very neat and carefully labelled. Flow charts can be useful for describing any procedures
in which a series of steps has been followed. Each diagram should have a figure number, and you
should refer to it within the text of your report. Position the diagram close to the relevant part of
the text. Now is a good time to learn how to position figures neatly using your word processor
software. When including images taken on a microscope, a scale bar and magnification must
always be noted.
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Discussion
The discussion should explain what your results mean. If you began with a research question, give the
answer to the question here. If you began with a hypothesis, state whether or not your results support
your hypothesis. If not, analyse your procedure and results to explain why. Was your hypothesis
incorrect? Or was the procedure or model used not suitable for the investigation?
If there are any implications of your work, such as implications for better agricultural processes or
the design of better medicines, put them here.
Conclusion
Refer to Interpreting your results: conclusions (page 14).
References
When writing a report that includes information from existing literature, use a citation to indicate
within the report that you are using someone else’s information or ideas, then include a list of
references at the end. A reference list acknowledges the sources you used, which helps you to avoid
plagiarism and strengthens your arguments. References can include journal articles, books, book
chapters, websites, newspaper articles, conference proceedings, podcasts etc.
American Psychology Association (APA) referencing is commonly used in science reports. The
APA citation style within the body of the report is an ‘author–date’ style: write, for example, ‘(Tian and
Castillo, 2016)’, ‘Roberts et al., 2019’ or ‘Tian and Castillo (2016) observed …’. ‘et al.’ means there are
APA referencing by
Murdoch University more than two authors.
A science bibliography The reference list allows readers to locate sources easily and usually follows the chosen
usually uses APA referencing style, APA in this case. Write the surname of the author(s) followed by their initials with a
referencing.
comma between authors, then the year of publication within parentheses, the title, the publisher and
the place of publication. For example:
Tian M, Castillo TL (2016) Solar heating uptake in Australia: rates, causes and effects . Energy
Efficiency Reports. Report no. 10, The Department of Sustainability and Environment, Canberra.
When a website without an author is used, the listing looks like this:
ABC News. (2003) $250 m funding boost for malaria vaccine . Retrieved from https://www.abc.
net.au/news/2003-09-22/250m-funding-boost-for-malaria-vaccine/1482220
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CHAPTER 1 | Science inquiry skills 17
Look at examples of articles in the scientific literature and the Multimedia presentations
• PowerPoint®
popular media. This will give you an idea of how different styles
• Canva®
are used in different contexts. Think about the purpose of the
communication. Is it to inform, to persuade or both? What sort of Oral presentations
language is used? • Informative
• Persuasive
Think about your audience and use appropriate language and
style. A poster is not usually as formal as a report. A website may be Journal articles
more or less formal, depending on the audience. • Research
• Case study
FIGURE 1.10 A poster session is a common way to present scientific findings at a conference.
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WS
CHAPTER 1 SUMMARY
Chapter 1 • Science involves investigations. Prior ethics: reduction, refinement and
Activity sheet
to an investigation, scientists: identify, replacement.
research and construct questions; propose • Scientists write a clear procedure to ensure
hypotheses; and predict possible outcomes. the investigation collects accurate, valid and
• The scientific method is used to conduct reliable data.
an investigation. The sequence followed in
• Raw data are recorded in a logbook and
an investigation may include: observation,
tables, and analysed using statistical
question, research, hypothesis, prediction,
methods (e.g. mean, median, range,
procedure, results, graph, discussion and
probability and standard deviation).
conclusion.
• Data can be displayed in a meaningful way
• Scientists read and interpret a range of
by plotting graphs.
scientific and media texts. Scientists use
critical thinking to evaluate claims and • The discussion and conclusion sections
conclusions, which leads them to construct of a written report evaluate ways in which
logical scientific arguments. measurement error, instrumental accuracy,
• Primary and/or secondary data are collected the nature of the procedure or the sample
to test a hypothesis. size may influence uncertainty in and
• Prior to an investigation, a scientist should limitations of the data.
conduct risk assessments and consider • Written reports are often used by scientists to
research ethics. communicate their investigations. Posters, oral
• Any investigations that use animals and multimedia presentations at conferences,
must consider the three Rs of animal and journal articles are also used.
CHAPTER 1 GLOSSARY
Accuracy The extent to which a measurement Dependent variable A variable that changes as
result represents the quantity being measured; a result of changes to the independent variable
an accurate measurement result includes an
Discrete variable A variable that may only take
estimate of the true value and an estimate of the certain values, e.g. number of individuals, or
uncertainty number of legs on an animal
Autoclave A device used to sterilise
Extrapolation Extension beyond the measured
equipment, reagents or contaminated waste;
range of data to predict or construct new data
autoclaves work by subjecting contents to
that has not been measured
pressurised steam at 121°C for a set time
Falsifiable Able to be disproved
Continuous variable A variable that is able
to take any value within a range; length, time Hypothesis (plural hypotheses) A scientific
and temperature are examples of continuous statement based on the available information
variables that can be tested by experimentation (‘an
Control group A comparison group that is educated prediction’). It may describe an
as similar as possible to the experimental expected relationship between the independent
group, except for the variable being tested (the and dependent variables based on observed
‘independent variable’); the independent variable phenomena
is absent or unchanged in the control group Independent variable A variable intentionally
Controlled variable A variable that is controlled varied by an experimenter to see what the
by the experimenter and kept constant during outcome will be for another variable (the
the experiment ‘dependent variable’)
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CHAPTER 1 | Science inquiry skills 19
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Understanding
3 If one student reads 27.5°C and another student reads 27.8°C when taking the temperature
of the same solution, suggest two strategies they could adopt to decrease the error, and thus
increase the reliability of their readings.
Applying
4 Identify whether each of the following statements is a prediction, hypothesis, inference or
conclusion.
a I deduce that a Year 12 student with dark circles around his eyes has had little sleep.
b If the amount of regular homework completed decreases, then a student’s assessment marks
will decrease. (The trend is going to be investigated with an experiment.)
c A Year 12 student will know more about biology than a Year 2 student.
d It was found that 93% of students who handed in homework regularly achieved a
satisfactory or above grade. This supported the hypothesis that regular homework has a
positive impact on assessment scores.
5 In recent years, WA has exported more than 350 000 live cattle per annum. WA has an excellent
clean animal health status and a National Livestock Identification System that allows the
strictest biosecurity protocols to be practised. For the time period of 2016/17, the main export
markets for WA live cattle were Indonesia, Vietnam, Israel, Turkey and Malaysia.
Construct a pie chart for the following data. Use a ruler and a protractor if you are drawing by
hand, or use a software program such as Excel.
Indonesia 46%
Vietnam 18%
Israel 18%
Turkey 15%
Malaysia 2%
Other markets 1%
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CHAPTER 1 | Science inquiry skills 21
Some businesses provide life insurance for pets. FLOWER 1 FLOWER 2 FLOWER 3 FLOWER 4
Data were obtained from one business on the Plant 1 17 22 18 18
cause of death of insured cats over the period
Plant 2 12 2 9 –
1999–2006. The data are shown in the table
Plant 3 40 16 13 14
below.
Plant 4 21 18 – –
CAUSE OF DEATH NUMBER OF INSURED CATS Plant 5 41 – – –
Kidney failure 907 The mean number of seeds per flower for
Traffic accidents 411 Plant 2 is:
A 5.8
Other accidents 153
B 7.7
Skin cancers 165 C 14.5
Blood cancers 235
D 18.8.
[Q16 2017 SCSA]
Other cancers 128
4 In an experiment, the factor that is
Viral infections 407
manipulated by the experimenter is called:
Bacterial infections 24 A a control
Heart disease 421 B a dependent variable
C an independent variable
Hormonal disease 98
D a replicate.
1 What proportion of cats in the data above
[Q22 2017 SCSA]
died from cancers?
A 0.04 5 A man’s resting heart rate was measured
B 0.12 at weekly intervals over a 5-week period
C 0.14 during which the man undertook fitness
D 0.18 training. The data are tabulated below.
[Q19 2019 SCSA] WEEK RESTING HEART RATE (BEATS PER MINUTE)
2 Which of the following is a valid conclusion 1 84
from the data? 2 80
A Few owners vaccinate their cats against 3 71
viral infections. 4 69
B Kidney failure is the most common 5 66
cause of death in uninsured cats.
C Infectious diseases killed more insured These data indicate that the man’s resting
cats than heart disease. heart rate:
D Cat owners mainly insure their cats A was above 90 beats per minute before
when the cats are ill. the experiment began
B will drop below 60 beats per minute if
[Q20 2019 SCSA]
the fitness training continues
3 Biologists counted the number of seeds C declined at the fastest rate between
produced by the flowers on five plants weeks 2 and 3
infected with a disease. The data are shown D increased by 20 beats per minute over
in the table. Note that some plants had more the 5 weeks.
flowers than others. [Q6 2016 SCSA]
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6 An increase in the sample size of an d Explain why the biologist waited for
experiment will: 15 minutes before measuring the heart
A increase the reliability and validity of rate of the Daphnia at the assigned
the experiment temperature. (3 marks)
B increase the reliability of the experiment e One of the Daphnia had a heart rate of
but not the validity 208 beats per 20 seconds. A biologist
C increase the validity of the experiment concluded that this Daphnia must have
but not the reliability been assigned to a temperature of 30°C.
D not affect the reliability or validity of Evaluate this conclusion. (4 marks)
the experiment. [Q32 2019 SCSA]
[Q12 2016 SCSA]
8 Soil salinity is a problem in agricultural
7 The water flea Daphnia is a small areas because many crop species cannot
crustacean that lives in fresh water. tolerate high concentrations of salt.
When Daphnia are examined under low Biologists conducted an experiment to
magnification with a microscope, the investigate why barley is more tolerant of
heart is clearly visible and the beats can soil salt than lupins are. They germinated
be counted. A biologist wanted to study 90 barley plants and 90 lupin plants and
the influence of temperature on the heart grew the plants in identical conditions
rate of Daphnia. He collected 50 Daphnia, except for variation in the concentration of
randomly assigned 10 individuals to each salt in the soil. After 6 weeks, the biologists
of five temperatures and measured the heart measured the concentration of salt in the
rate of each individual after 15 minutes at xylem tissue of the plants. The results are
the assigned temperature. The results are shown in the table below.
shown in the table below.
MEAN SALT
HEART RATE OF 10 CONCENTRATION
DAPHNIA (BEATS PER 20 s) IN THE XYLEM (mmol L-1 )
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CHAPTER 1 | Science inquiry skills 23
iii In which of the above estimates do except for the variation in soil salinity.
you have more confidence? Give a (3 marks)
reason for your answer. (2 marks) d Explain why the biologists used 90 plants
c Explain why the biologists grew the of each species rather than 18. (3 marks)
plants under identical conditions [Q34 2018 SCSA]
9 A group of biologists developed a model for predicting the spread of influenza in human
populations. As a part of this, they collected data on the number of individuals per household
in two locations, which are shown in the figure below.
Location 1 Location 2
100
sdlohesuoh fo rebmuN
sdlohesuoh fo rebmuN
140
80 120
100
60
80
40 60
40
20
20
0 0
1 2 3 4 5 6+ 1 2 3 4 5 6+
Number of people per household Number of people per household
Compare the number of people per household in the two locations. Use the data provided in
the graphs to support your answer. (4 marks)
[Q32a 2016 SCSA]
10 Biologists suspected that a species of fruit fly was developing resistance to a commonly
used insecticide. They collected 1000 fruit flies from an orchard sprayed regularly with this
insecticide. In the laboratory, they sprayed the fruit flies from the orchard with the recommended
dose of insecticide and measured the percentage survival of the flies over the next 100 hours. At
the same time, they also sprayed a group of 1000 laboratory-reared fruit flies of the same species
that had never been exposed to insecticide and recorded their percentage survival over the next
100 hours. Fruit flies in both groups were kept under identical culture conditions. The data are
shown below.
0 100 100
20 97 8
40 51 4
60 50 2
80 49 2
100 49 0
a Graph the percentage of fruit flies surviving over time for both the fruit flies from the
orchard and those from the laboratory. (6 marks)
b i State a hypothesis for the fruit fly experiment. (2 marks)
ii Does the fruit fly experiment have a control? Explain your answer. (3 marks)
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c i Calculate the number of flies from the orchard that died between 20 and 40 hours after
being sprayed. Show your workings. (2 marks)
ii Using your graph, estimate the time by which 50% of the fruit flies from the laboratory
had died. (1 mark)
iii Explain how you could modify the experiment to improve the accuracy of the estimate
of the time by which 50% of the fruit flies from the laboratory had died. (2 marks)
[Q33 2017 SCSA]
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2
PROCESSES FOR CHAPTER 2 CONTENT
By the end of this chapter, you will have covered the following
THE CONTINUITY material.
SCIENCE UNDERSTANDING
» continuity of life requires the replication of genetic material
and its transfer to the next generation through processes,
including binary fission, mitosis, meiosis and fertilisation
» DNA is a helical double-stranded molecule that occurs
bound to proteins in chromosomes in the nucleus, and as
unbound circular DNA in the cytosol of prokaryotes, and in
the mitochondria and chloroplasts of eukaryotic cells
» variations in the genotype of offspring arise as a result of the
processes of meiosis, including crossing over and random
assortment of chromosomes, and fertilisation, as well as a
result of mutations
ATAR Biology Syllabus, Government of Western Australia,
School Curriculum and Standards Authority
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FIGURE 2.1 This cygnet has been formed by the process of cell division.
All individual organisms have a finite life span, but their species continue to exist. This is because
some members of the species reproduce and pass on specific instructions embedded in their DNA
(deoxyribonucleic acid). DNA is a double-stranded helix with repeating units (building blocks) called
nucleotides. A nucleotide is made up of three parts: a five-carbon sugar, a phosphate group and a
nitrogenous base .
It is the DNA that determines the characteristics that define species. In all living things, DNA is the
molecule that contains the instructions, written in a chemical code, for the production of proteins
by the cell; the information it contains is sufficient for the making and maintaining of an organism. In
addition, DNA is the genetic material that passes on this information to the next generation.
Key concept
DNA is a helical, double-stranded molecule that contains the building blocks of life. It
determines the characteristics of all species and is passed down from generation to generation.
Living things that originate from one parent cell are said to be the product of asexual
reproduction. In this process, the offspring are produced without fusion of gametes. It usually
results in identical offspring that closely resemble their parent because they have only one source of
inherited information.
Organisms that reproduce via sexual reproduction have two sources of hereditary material.
Sexual reproduction is a process in which specialised male and female reproductive (sex) cells, called
gametes, are produced, and then fuse to form a zygote. Fertilisation occurs when the two gametes
join to form the zygote. Sexually reproducing organisms have a much greater potential for differences
in characteristics between generations than asexually reproducing organisms.
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CHAPTER 2 | Processes for the continuity of life 27
Chromosomes of eukaryotes
Eukaryotic cells are complex cells containing many membrane-bound organelles, including a
nucleus. In eukaryotic cells, DNA is found in the nucleus bound to histone proteins. DNA is also found
in the chloroplasts and mitochondria; however, this form is not bound to proteins. The combination
of DNA and histone proteins found in the nucleus is called chromatin.
When the cell is not dividing, the chromatin is organised into a relatively loosely coiled form. As
the cell prepares to divide, chromatin coils more tightly and becomes visible as chromosomes. During
the process of cell division, the chromosomes appear in the nucleus as duplicated structures linked at
a point called the centromere. Chromosomes are normally only visible under the microscope during
cell division, and only then when stained (Figure 2.2).
Key concept
In eukaryotic cells, DNA is bound to histone proteins in the nucleus and is unbound in the
mitochondria and chloroplasts.
1400 nm
2 nm
c
b
30 nm
700 nm
d
11 nm
FIGURE 2.2 Levels of organisation of a human chromosome. a A tightly coiled and condensed human
chromosome (only visible during cell division and when stained). b A nucleosome, consisting of a section of
a DNA molecule looped twice around a core of eight histone proteins. c Interacting proteins package loops
of coiled DNA and protein, called chromatin, which is organised as a cylindrical fibre. d Chromatin is further
condensed to make chromosomes.
Key concept
A chromosome is made up of a double-stranded DNA molecule wrapped around its associated
histone proteins.
In many eukaryotes, there are pairs of chromosomes, with one chromosome of each pair being
inherited from each parent. Examination of a prepared microscope slide of stained cells in the process
of nuclear division reveals a jumbled cluster of chromosomes that differ in size and shape. The
chromosomes visible in a photographic image of the microscope slide can be arranged into matched
and ordered pairs to create a karyotype, the standard graphical form used to display and analyse
chromosomes (Figure 2.3, page 28). Most of the chromosomes are ordered according to length, from
largest to smallest. Each species of organism typically has a particular number of chromosomes in
each cell.
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1 2 3 4 5 6
7 8 9 10 11 12
13 14 15 16 17 18
19 20 21 22 X Y
23
The nucleus of each somatic cell (body cell) of a human contains 46 chromosomes, which
form 23 pairs, of which 22 are matched homologous chromosomes (Figure 2.4). The nucleus
of a Tasmanian devil somatic cell contains 14 chromosomes, which form 7 pairs, of which 6 are
homologous. The chromosomes are recognisable individually by their size, position of centromere
and banding pattern. The bands on the chromosomes correspond to large groups of genes.
Maternal Paternal
chromosome chromosome
This locus a A
contains
gene A
b B
This locus C c
contains
gene C
Centromere
d D Gene D : alleles D or d
E e Gene E : alleles E or e
f F Gene F : alleles F or f
FIGURE 2.4 Stylised representation of a pair of chromosomes. In the somatic cells of diploid organisms, one of
each pair of chromosomes comes from the male parent and the other from the female parent.
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CHAPTER 2 | Processes for the continuity of life 29
The paternal chromosome in each pair of chromosomes comes from the male parent (via
the male gamete), and the maternal chromosome comes from the female parent (via the female
gamete).
The matched homologous pairs of chromosomes are also called autosomes. In humans the 23rd
pair of chromosomes is matched in females (XX) and unmatched in males (XY). As such, this pair of
chromosomes in males is called a heterosome. Because the X and Y chromosomes determine the
sex of an individual, they are also referred to as sex chromosomes. The 7th pair of chromosomes in a
Tasmanian devil’s karyotype are the sex chromosomes.
Early in an embryo’s development, its germline cells specialise into male or female gametes
through the process of differentiation.
The number of chromosomes in each somatic cell is called the diploid number and is
represented as 2n. As chromosomes occur in pairs, n stands for the number of chromosomes in one
complete set found in one gamete, and the number of pairs that the particular species has in each
of its other cells. This is called the haploid number. A human somatic cell has 23 pairs, so its diploid
number is 2n = 46 and its haploid number is n = 23.
Along the length of each DNA molecule, there are regions of DNA (genes) that code for specific
proteins. These proteins determine the particular characteristics or traits of the organism. The
location of a specific gene on a chromosome is referred to as its locus (plural loci). In homologous
chromosomes, the corresponding gene is found at the same locus on each of the pair of
chromosomes. Alternative forms of the same gene are called alleles. Alleles are versions of the same
gene with slight differences. Sometimes there is just one single difference in the genetic sequence,
but it may be enough to cause large variation in the functioning of the gene. For example, a change
in the genetic sequence in a single gene causes juvenile hereditary cataracts (JHC) in French bulldogs
that have two copies of the changed allele. A normal, diploid organism has two of each gene in every
somatic cell with a nucleus. One is on the maternal chromosome and the other on the paternal
chromosome in a particular homologous pair, so one gene comes from each parent. For the majority
of genes, there is only one allele (or gene variant), but it is the different alleles that exist for some
genes that give individuals distinct traits.
Chromosomes of prokaryotes
Membrane-bound organelles, such as a nucleus, are not present in the single-celled organisms
known as prokaryotes. The DNA within these cells generally forms a single circular chromosome that
lies in direct contact with the cytosol (intracellular fluid) (Figure 2.5, page 30). The chromosome is
often joined to the cell membrane at a single point. Although not contained by an internal membrane,
the chromosome can be in a distinct region of the cell called a nucleoid. Additional small rings of
DNA, called plasmids, may also be present in the cytosol. Non-essential proteins are commonly
encoded on these plasmids. Plasmids can replicate independently of the main chromosome. They
have become important tools in genetic engineering, because they can be easily transferred from one
bacterium to another and replicate rapidly.
Key concept
In prokaryotes, DNA is found in the cytosol as unbound circular DNA.
Eukaryotic chromosomes are linear, with longer lengths of DNA than is present in prokaryotes,
and they need to condense into a small volume. A number of proteins work together to fold and
condense the DNA into chromatin. Prior to dividing, chromatin is condensed even further by
supercoiling to form chromosomes. Prokaryotic cells have less DNA because they are generally
haploid (i.e. only contain one copy of each gene) and they contain less repetitive non-coding DNA.
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Just as with many other strategies in nature, there are exceptions. Not all bacteria have a single
circular chromosome. There are some bacteria with more than one circular chromosome. Other
bacteria have linear chromosomes and linear plasmids. Another notable difference between the
chromosomes in prokaryotes and those in eukaryotes is the presence of histones. Most prokaryotes
do not have histones (with the exception of some species in the domain Archaea).
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Key concept
Eukaryotic cell division involves a number of phases, including nuclear division (mitosis or
meiosis) and cytoplasmic division (cytokinesis). The processes of mitosis and meiosis allow for
the replication and transfer of genetic material to the next generation.
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The length of the cell cycle varies from cell to cell, and not all cells divide. For example, most
specialised cells, such as nerve cells and retinal cells in adult humans, do not divide. On the other
hand, during developmental growth and in areas of high wear, cells divide frequently. Cells can
Control of the Cell Cycle
Game divide to create new organs or tissues. For example, cells in a growing root tip may divide every
As a ‘cell division 20–24 hours. Cells in high-wear areas, such as in the skin or in the lining of the mouth or gut, divide
supervisor’ inside the to replace the dead cells ‘sloughed off’ due to mechanical disturbance, or in response to new cells
cell nucleus, you are to
steer the cell division growing below.
process to make sure
G0 phase
everything happens in
the right order.
G1 phase
NI
RET
Cell growth before
DNA replication
P
Generalised
ESAH
animal cells S phase
DNA replication
C phase
Cytokinesis
Mitosis
Nucleus G2 phase
divides Cell prepares
for division
PH
M
AS
E
FIGURE 2.6 The life cycle of a cell. Most cells spend the majority of their time in interphase.
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CHAPTER 2 | Processes for the continuity of life 33
Replication
Centromere
Sister Sister
chromatids chromatids
FIGURE 2.7 Homologous chromosomes at two different stages of the cell cycle
Mitosis is a relatively short part of the cell cycle, and is broken down into four phases: prophase,
metaphase, anaphase and telophase. The phases of mitosis are described in detail in Table 2.2
(page 34). At the conclusion of mitosis, there is a diploid number of chromosomes in the daughter
cells, but they have half the genetic material of the parent cell in prophase. It is important to
remember that one chromosome can consist of either one DNA double helix or two DNA double
helices connected by a centromere. This helps clarify why the chromosomes of a parent cell at the
start of mitosis look different from those of a daughter cell at the end of mitosis, even though there is
a diploid number of chromosomes in both of them.
Following mitosis, cytokinesis occurs, which forms two separate, diploid daughter cells. The
daughter cells produced by mitosis are usually identical, and therefore very little variation in offspring
arises during mitosis. Mitosis is nuclear division, during which the genetic material in the parent cell is
replicated, and cytokinesis is the division and separation of the cytoplasm to create the new daughter
cells.
Key concept
Identical daughter cells are produced as a result of mitosis; in other words, variation between
daughter cells is limited in mitosis.
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centromere.
5 The two centrosomes (each containing two centrioles) move
Chromosome Nucleolus Centrosome
towards opposite poles of the cell.
FIGURE 2.8 Prophase
Cell
membrane
Spindle
Centromere fibre
Anaphase
1 The spindle microtubules shorten and pull on the centromeres;
the sister chromatids separate. Sister chromatids separate to become
separate chromosomes
2 The spindle microtubules pull the sister chromatids to opposite
poles of the cell.
3 The centromere, being attached to the microtubules (spindle
fibres), is the first part of each chromosome to be pulled towards
the poles. The ‘arms’ of each chromatid follow as they are pulled
along by the centromere.
4 At the end of this phase, each pole has a complete identical set of
maternal and paternal chromosomes. (The genetic material doubled
during the S phase, before cell division started, so the amount of
DNA at each pole is the same as that of the interphase parent in G1.) FIGURE 2.10 Anaphase
5 The sister chromatids are now referred to as chromosomes.
Telophase
1 Chromosomes decondense to form chromatin, at which time
they can no longer be seen under the microscope.
2 Two new nuclear membranes (also known as nuclear envelopes)
form, one for each new daughter cell.
3 Nucleoli reappear and the spindle apparatus disappears.
4 The cell elongates and a cleavage furrow forms to become ready Cleavage furrow
for cytokinesis.
FIGURE 2.11 Telophase
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Prophase Metaphase
FIGURE 2.12 These micrographs show prophase, metaphase, anaphase and telophase in onion root tip cells.
Spindle equator Vesicles gathering Cell plate growing Two daughter cells
FIGURE 2.13 Cytokinesis in a plant cell involves the formation of a cell plate; cellulose is deposited on the cell plate to complete the cell
walls of the two new daughter cells.
Animal cells
Animal cells do not have a cell wall, and so cytokinesis in animal cells does not require the formation
of a cell plate. In animal cells, the cytoplasm divides by a process known as cleavage. The cell
membrane around the middle of the cell draws together to form a cleavage furrow. The cleavage
furrow continues to develop until the cell membrane eventually meets at a point, and the cell is then
cleaved, or split, resulting in two new daughter cells (Figure 2.14).
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a b
spillihP divaD .rD/ecruoS ecneicS
Cleavage furrow
FIGURE 2.14 a Micrographs of an animal cell during cytokinesis, showing the cleavage furrow from a distance and b close up. c After
formation of a cleavage furrow, the cell divides to produce two new daughter cells.
Centrosome
containing Spindle made up Condensed
Nucleus pair of centrioles of microtubules Chromosomes chromosomes
begin to condense
Mitosis and meiosis
animations
Watch this animation
that explains mitosis
and meiosis side by side.
Nucleolus Nuclear
envelope
Interphase Early prophase Transition to metaphase
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FIGURE 2.16 Genomic studies of marsupials, such as this tiny western pygmy possum, are being used to
find their evolutionary relationships.
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Binary fission
Cell reproduction is more complex in eukaryotes than in prokaryotes. As prokaryotes lack a nucleus
and have only a single chromosome with no centromere, they cannot be properly said to undergo
mitosis. They reproduce by binary fission. Binary fission can be defined as a process of asexual
reproduction whereby a prokaryotic cell divides into two identical daughter cells. The process
includes DNA replication, chromosome segregation and cytokinesis. As in mitosis, binary fission
produces daughter cells with the same number of chromosomes as the parental cell.
There is limited variation in prokaryotic populations other than that due to mutation. However,
binary fission is a process that happens relatively fast compared with other cell division processes,
which means the mutation rate is much higher.
Prokaryotic bacterial cells replicate their single DNA strand, signalling the beginning of binary
fission. Following replication, each DNA copy attaches to a different part of the cell membrane. When
the cell begins to lengthen during cell division, the replicate (copy) and original chromosomes are
separated. A wall forms across the cell and divides it into two cells of identical genetic composition.
A process similar to binary fission occurs in eukaryotic cells when mitochondria and chloroplasts
divide to form new organelles. They divide independently of the nuclear DNA but segregate evenly
into the two daughter cells during cytokinesis.
Binary fission can be summarised into six steps, but it is helpful to note that, like mitosis and
meiosis, binary fission is actually a continuous process, not one that stops and starts.
2. The genetic material in the chromosome and any plasmids replicates and separates.
3. The original and replicate chromosomes attach to the cell membrane and are
/gro.snommocevitaerc//:sptth( 0.3 AS YB CC .41notgniddocE/aidemikiW
4. The new cell wall starts to grow. As this process commences, a cleavage furrow
develops in the cell membrane.
6. The two cells separate (cytokinesis), forming two identical daughter cells.
The chromosomes become tightly coiled again.
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Telophase I
1 New nuclear membranes form and the chromosomes uncoil.
Two haploid cells form; each chromosome
2 The spindle fibres disintegrate. still consists of two sister chromatids
2 The spindle fibres shorten and individual sister chromatids move to opposite poles Sister
chromatids
of the cell. separate
3 In animal cells, the cell membrane pinches inwards to form a cleavage, whereas in
plant cells new cell wall plates form.
Telophase II Telophase II / Cytokinesis II
1 Chromosomes unwind, loosen and reform chromatin. Haploid
daughter
2 Four new nuclear membranes form around the nuclei, one in each new daughter cell. cells forming
Cytokinesis II: separation of the cytoplasm
The cells separate into four new non-identical, haploid daughter cells.
FIGURE 2.20 Meiosis II
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Homologous
chromosomes
Homologous pairs line up with the two
paternal chromosomes either on the same side
of the metaphase plate or on opposite sides.
Meiosis I
Results in
different
genetic
Key combinations
Paternal chromosome 1
Paternal chromosome 2
Maternal chromosome 2
Gametes Gametes
FIGURE 2.21 Independent assortment during metaphase I. Note: Mendel’s law of independent assortment states that when gametes are
formed, the assortment of one pair of chromosomes/alleles between the daughter cells is independent of that of another pair of alleles.
Meiosis I
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Function Nuclear and cellular division for Nuclear and cellular division for
growth, repair and replacement of producing gametes.
tissues.
Number of chromosomes Each of the two identical daughter Each of the four, non-identical
in daughter cells cells contains the diploid number of daughter cells contains the haploid
chromosomes (2n). number of chromosomes (n).
Key concept
Cell division allows for the replication and transfer of genetic information in prokaryotes and
eukaryotes. Prokaryotes divide by binary fission. Somatic cells of eukaryotes divide by mitosis.
Germline cells of eukaryotes divide by meiosis.
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Inputs
2.3 FERTILISATION Adult
female
Adult
male
2n 2n
Meiosis begins the process of transferring genetic
information to the next generation by replicating DNA
and producing male and female gametes. Fertilisation Process Meiosis Meiosis
is the joining of the two gametes to form a zygote. The
zygote receives one of each of its pairs of chromosomes
Egg
from each parent. Fertilisation completes the transfer of Sperm
Key concept
Fertilisation leads to increased variation in offspring because it involves the fusing of two
haploid cells from two different parents to form one diploid cell (the zygote).
randomly at the equator. Each maternal chromosome randomly positions itself closer to one pole
than the other, and independently of the other maternal chromosomes. The number of possible
orientations is equal to 2 raised to the power of the number of chromosome pairs. For example,
for a haploid number of n, 2n is the number of possible outcomes. Humans have a haploid number
of 23, so the number of possible assortments is 223, which gives a value of over 8 million. This
means that there are over 8 million possible combinations of chromosomes in a gamete from
one individual, just from the random orientation of the homologous chromosomes. If we add the
effects of crossing over, the number of combinations increases even further.
Question
Calculate the number of possible combinations of chromosomes in a Tasmanian devil’s
gametes (n = 7).
sperm cell bearing a Y chromosome will fuse with an egg cell, resulting in a male zygote (XY), and
a 50% chance that a sperm cell bearing an X chromosome will fuse with an egg cell, resulting in a
female zygote (XX).
study shows
Prokaryotes multiply and survive under a range of conditions, but the conditions need to
be appropriate for the particular type of prokaryote. Bacteria have been studied in light and
dark conditions. In an article in the journal Microbiome, it was reported that an abundance
of sunlight was significantly associated with lower amounts of certain types of bacteria.
Researchers at the University of Oregon found that in dark rooms about 12% of bacteria,
on average, were able to reproduce. In sunlight, only 6.8% thrived. That figure was down to
6.1% of bacteria exposed to UV light. Dr Ashkaan Fahimipour, the postdoctoral researcher in
biology who conducted the study, commented during an interview with ABC News that this
could actually have an impact on health. He and his colleagues found smaller communities of
different types of bacteria grew under greater light exposure.
Questions
ABC News
Read the interview with 1 What were the independent and dependent variables in this study?
Dr Fahimipour. 2 Write a conclusion for the study, using relevant data to support your answer.
3 Create a hypothesis for a factor other than light that may affect the rate of binary fission.
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CHAPTER 2 ACTIVITY
Staring mutations in the face: exploring the chromosomal anomalies 2.1
of the devil facial tumour disease
YTIVITCA
As the world’s largest living carnivorous marsupial, the Tasmanian devil (Sarcophilus harrisii) is
an Australian icon. Sadly, since the mid-1990s a sizeable proportion of the wild population has
succumbed to a rare and often fatal form of transmissible cancer called the devil facial tumour disease
(DFTD) (Figure 2.24).
The cancer is spread between animals when they bite each other, often during courtship.
Analysis of DFTD cells has demonstrated that tumour cells all have a similar karyotype (with just
a few variations), even though they may have been isolated from genetically different animals from
different locations, and that the DFTD karyotype is quite different from that of the Tasmanian devil
host animals. Transmission relies on the recipient of the DFTD failing to mount an immune response
against the foreign DFTD cells. This is now understood to be due to the tumour evolving a mechanism
that prevents the Tasmanian devil’s immune system from overcoming it.
Each strain of the cancer is thought to have arisen in a single host and then spread. The tumour
cells themselves are the infectious agent being passed from devil to devil. A cytogeneticist at the
Royal Hobart Hospital performed the karyotyping for several DFTD samples. Analysis of the samples
revealed two different DFTDs, one originating from a female (DFTD1), and a more recent one
originating from a male (DFTD2). Both DFTDs are transmissible, grow in a host via cloning, and have
a different genetic makeup from the host cells. That research was reported in 2015, and since then at
least two other strains have been found. Mutations are
described in further
detail in Chapter 4
sttaW evaD /devreser sthgir llA EPACSUA
FIGURE 2.24 A Tasmanian devil infected with devil facial tumour disease
Aim
To construct and compare two karyotypes for the Tasmanian devil – one for a healthy cell and the
other for a cell taken from a DFTD tumour – and to consider what mutations may have occurred to
give rise to DFTD. The cancer that causes DFTD is caused by an infectious pathogen. The fact that it
can be transmitted is considered rare for cancer.
You will need
Pencil, scissors, glue, blank sheet of paper, photocopy of the chromosome images in Figure 2.25
(page 46), red and blue pens or pencils
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FIGURE 2.25 A mixture of the chromosomes from a healthy cell (red) and a DFTD cell (blue) from a Tasmanian
devil
What to do
Referring to Figure 2.25, on a photocopy of the diagram, outline the chromosomes from the healthy
cell in red, and those from the DFTD cell in blue.
1 Cut out each chromosome and add it to a red (healthy cell) pile or a blue (tumour cell) pile.
Assemble the red cut-out chromosomes into a karyotype by pairing them and ordering them
from largest to smallest.
2 Orientate a sheet of paper in landscape format. Secure the karyotype by gluing the chromosome
pairs onto the top half of the paper, leaving a space of approximately 10 cm on the right-hand side.
The largest chromosomes should be on the left, the smallest on the right.
3 Label the chromosome pairs by numbering the largest pair ‘1’ and continue labelling them
sequentially down to the second smallest pair. The two smallest chromosomes are the sex
chromosomes, and should be labelled as such.
Now work on the ‘blue’ chromosomes from the DFTD cell.
4 Pair up any matching chromosomes. Leave aside any that cannot be paired.
5 Compare the paired chromosomes from the DFTD cell with those in the karyotype of the healthy
cell. Arrange the paired chromosomes from the DFTD cell underneath the corresponding
chromosomes from the healthy cell and glue them onto the paper.
6 Compare the unpaired chromosomes from the DFTD cell with those of the healthy cell. If any
DFTD chromosomes look similar to any of those in the healthy karyotype, glue them onto the
paper underneath the corresponding chromosomes.
7 You will be left with unpaired chromosomes from the DFTD cell that cannot be identified from
the healthy karyotype. Arrange these from largest to smallest and glue them onto the page in the
space to the right-hand side of the DFTD cell chromosomes.
8 Label the identifiable DFTD cell chromosomes, including any unpaired chromosomes, with the
same labels as for the healthy cell. Label the remaining DFTD cell chromosomes on the right-hand
side as ‘M1’, ‘M2’ etc. (M represents ‘mutation’.)
What did you discover?
1 What features of the chromosomes did you use to match corresponding pairs?
2 What are the diploid and haploid numbers for healthy cells?
3 What is the sex of the animal from which the healthy cell was taken? How do you know?
4 What differences are there between the karyotypes of the healthy cell and the DFTD cell?
5 Discuss what changes might have occurred to the chromosomes of the Tasmanian devil to give
rise to DFTD.
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CHAPTER 2 SUMMARY WS
• Cell division is essential for growth, (i.e. one of each pair of homologous Chapter 2
Activity sheet
development, repair and reproduction. chromosomes) is found in gametes.
• Heredity is the study of the patterns and • Homologous chromosomes have the same
mechanisms of genetic inheritance through genes at the same position (locus), but there
generations. may be alternative forms of the gene, called
• Asexual reproduction results in limited alleles.
genetic variation. Sexual reproduction • Chromosomes in prokaryotic cells are
combines genetic information from two generally circular and found in a region of
parent cells and increases the genetic the cell called the nucleoid.
variation in offspring. • Small rings of DNA called plasmids may
• In eukaryotic chromosomes, the DNA in also be present in prokaryotic cells.
the nucleus is coiled around the histone • Prokaryotic cells reproduce by binary
proteins to form nucleosomes. fission.
• When matched and ordered, eukaryotic • The sequence of events in cell division is
chromosomes can be displayed in a called the cell cycle.
karyotype, and different chromosome sizes, • Eukaryotic cell division involves
centromere positions, and banding patterns nuclear division (mitosis or meiosis) and
can be observed. cytoplasmic division (cytokinesis).
• Somatic or body cells have pairs of • In mitosis, the cell divides once after
homologous chromosomes; one chromosome passing through four phases (prophase,
of each pair comes from the male parent and metaphase, anaphase and telophase). Cells
the other from the female parent. formed by mitosis generally have the same
• Sex chromosomes that determine an genetic material as their parent cell.
individual’s sex are generally matched in • In meiosis, the cell divides twice (meiosis I
one sex (e.g. XX) and unmatched in the and II). Cells formed by meiosis are called
other sex (e.g. XY). gametes.
• A diploid number (2n) of chromosomes is • Fertilisation is the fusion of gametes from
found in somatic cells; a haploid number (n) two different parent cells to form a new cell.
CHAPTER 2 GLOSSARY
Allele One of various versions of the same undergoes binary fission to form two identical
gene (at the same locus) distinguished by small daughter cells; a form of asexual reproduction
differences in the DNA sequence Bivalent A structure (visible in a cell during
Apoptosis A programmed series of events that prophase I of meiosis) made up of two
leads to cell death (as a result of the dismantling homologous chromosomes joined together
of the internal contents of the cell by various Cell cycle An ordered sequence of events in
enzymes, including caspases) the life of a cell from when it was formed from a
Asexual reproduction The process by which a parent cell until its own division
single parent produces offspring and that does Cell division The splitting of a cell into two
not involve fusion of gametes; a process that new functioning cells
usually results in identical offspring Cell plate The structure produced by dividing
Autosome A chromosome that is not a sex plant cells in the place where the new cell wall
chromosome is forming
Binary fission The division of a cell into Centriole A minute rod-shaped organelle
two cells without mitosis; a prokaryotic cell present in many resting cells, just outside the
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nuclear membrane that helps make the spindle an example of cell differentiation is the
fibres for cell division; a centrosome contains development of root tip cells of plants into
two centrioles; it is usually absent in plants phloem, xylem and root hairs; during the
Centromere The waist-like constriction in a process of differentiation, cells gain specialised
chromosome where the spindle fibres attach; it structures and functions
enables the movement of chromosomes during Diploid (2n) Describes a cell or organism
cell division that has a genome that contains two copies
Centrosome An organelle containing a pair of each chromosome; the diploid number of
of centrioles; it duplicates during cell division, chromosomes is represented by 2n
while the DNA is duplicating, and the two DNA (deoxyribonucleic acid) The information-
centrosomes then separate to opposite poles containing molecule present in all living things
of the dividing cell; it produces the spindle that contains the instructions, written in a
during cell mitosis and meiosis, and one of the chemical code, for the production of proteins
centrosomes goes into each daughter cell by the cell; the information it contains is
Chromatid Daughter strand of a duplicated sufficient for the making and maintaining of
chromosome that is joined to another chromatid the organism; in addition, DNA is the genetic
by a centromere material that passes this information on to the
Chromatin An organised, loosely coiled next generation
complex of DNA and its proteins that is found Eukaryotic cell A complex cell containing
in eukaryotic non-dividing cells; it is more membrane-bound organelles, including a
compact than the DNA of prokaryotes; chromatin nucleus
supercoils to become the chromosomes
Fertilisation The fusion of haploid male and
observable during eukaryotic cell division
female gametes during sexual reproduction to
Chromosome A structure composed of DNA produce a diploid zygote; the random union of
and protein that contains linear arrays of genes gametes is known as random fertilisation
carrying genetic information; prokaryotes
generally have one circular chromosome, Gamete A male or female reproductive cell;
one of each type combine at fertilisation; in
whereas eukaryotes have a number of linear
humans, the gametes are ova and sperm cells;
chromosomes
in flowering plants, pollen grains contain male
Cleavage The division of the cytoplasm in an gametes and ovules contain female gametes
animal cell
Gene A unit of heredity that transmits
Cleavage furrow A shallow, ring-like
information from one generation to the next; a
depression that forms on the surface of
segment of DNA that codes for a polypeptide
an animal cell undergoing cytokinesis as
contractile microfilaments pull the cell Genetic Refers to the mechanisms and patterns
membrane inward; it defines where the of inheritance; relating to the transmission
cytoplasm will be divided to make two cells of coded chemical instructions from one
generation to the next
Crossing over The exchange of genetic material
between maternal and paternal homologous Genome All of the genetic material contained
chromosomes (of non-sister chromatids) in an organism or a cell; it includes the
that occurs during the first step of meoisis chromosomes within the nucleus and the DNA
(prophase I) in mitochondria and chloroplasts
Cytokinesis The division of the cytoplasm Germline cell A specialised sex cell that
immediately after mitosis, meiosis I or meiosis II gives rise to gametes; early in an embyro’s
to create two separate daughter cells development, its germline cells specialise into
Differentiation The process during male or female germ cells
development whereby newly formed cells Haploid (n) Describes a cell or organism
become more specialised as they mature; that has a genome that contains one copy of
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each chromosome; the haploid number of ribosomes are made from protein and RNA
chromosomes is represented by n subunits
Heredity The study of inheritance; the genetic Nucleotide The basic building block of
transmission of characteristics from one nucleic acids (DNA and RNA); nucleotides are
generation to another linked together by phosphodiester bonds; each
Heterosome One of the non-identical nucleotide is made up of a five-carbon sugar, a
chromosomes that pairs up at meiosis (e.g. the X phosphate group and a nitrogenous base
and Y chromosomes in male humans) Nucleus The dense organelle of a eukaryotic
Histone A protein around which DNA winds cell that contains genetic material in the form
in eukaryotic cells to form a nucleosome of chromosomes and is enclosed by a nuclear
membrane; in its resting phase, the genetic
Homologous chromosomes A pair of
chromosomes of the same size and shape and material takes the form of loosely coiled
that has the same genes at the same locations chromatin; the chromatin supercoils and
condenses to form chromosomes before cell
Interphase The stage between nuclear
division
divisions that involves metabolic activity,
growth, and duplication of chromosomes Organelle A specialised part of a cell that has
its own specific function; a ‘little organ’
Karyotype A display of the number and
appearance of the chromosomes of an organism Paternal chromosome The chromosome
or cell as observed at metaphase in a pair of chromosomes that came from the
father
Locus (plural loci) The position a gene occupies
on a chromosome Plasmid A small circular piece of DNA,
found in bacteria, that is able to replicate
Maternal chromosome The chromosome in a
independently of the cell’s chromosomes;
pair of chromosomes that came from the mother
engineered plasmids may carry antibiotic-
Meiosis A type of cellular division in sexually resistance markers
reproducing organisms that involves two rounds
of cell division, but only one round of DNA Prokaryote A single-celled organism that
lacks membrane-bound organelles such as a
replication; during meiosis, the chromosome
nucleus
number of a cell is halved so that the daughter
cells are haploid; meiosis is the basis of gamete Sex chromosome A chromosome that
formation in some plants and animals and of determines the sex of an organism and affects
spore formation in other plants sexual traits
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Understanding
4 The amount of nuclear DNA in any given cell can be measured quite accurately. Predict the
stages of the cell cycle in which you would expect to see changes in the amount of nuclear
DNA.
5 Compare and contrast binary fission with mitosis.
6 Compare and contrast the concept of a chromosome with the concept of a gene.
Applying
7 Predict what would happen if cytokinesis did not occur during a cell cycle.
Analysing
8 When animals of different species are kept together in captivity, they sometimes mate and
produce offspring. A donkey has a diploid number of 62, and a zebra has a diploid number of 44.
a Name the type of cell in the donkey that would be expected to contain 31 chromosomes.
b Name the type of cell in the zebra that would be expected to contain 44 chromosomes.
c Estimate how many chromosomes you would expect to find in the somatic cells of the
donkey.
d If a ‘zonkey’ (a hybrid formed by the fertilisation of a female donkey egg by a zebra sperm)
is produced, predict its 2n number.
e Describe how a zonkey karyotype would differ from the karyotype of a zebra.
f Suggest problems that might occur when the zonkey produces gametes.
g Explain why most hybrid animals are infertile.
9 Draw a simple table that compares mitosis and meiosis. Include the number of daughter cells
produced by each parent cell, the number of chromosomes in each daughter cell, and whether
the daughter cells are identical or non-identical.
Evaluating
10 All chromosomes are double stranded and linear in shape. Do you agree with this statement?
Justify your answer.
11 ‘Cells produced by meiosis only contain half the amount of DNA compared with their parent
cells. This means DNA does not replicate during meiosis.’ Do you agree with this statement?
Justify your answer.
12 Explain why meiosis is necessary for gamete formation, rather than mitosis.
13 A group of cells being studied were never observed to undergo division. Explain whether this
means the cells were dead. Justify your answer.
14 Prokaryotes divide by means of binary fission and generally produce cells identical to one
another and to the parent cell. Complex organisms produce sex cells that combine to form
a new individual. Identify an advantage and a disadvantage for each of asexual and sexual
reproduction.
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4 Meiosis produces:
A four diploid gametes 9 Provide labels A to D for the diagram.
B two haploid gametes (4 marks)
C two diploid gametes [Q31a. 2014 SCSA]
D four haploid gametes.
10 Name the process occurring at E and
[Q6. 2014 SCSA]
explain the biological importance of the
Use the following information to answer process. (3 marks)
questions 5 and 6. [Q31b. and c. 2014 SCSA]
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3
DNA STRUCTURE CHAPTER 3 CONTENT
By the end of this chapter, you will have covered the
AND FUNCTION following material.
STARTER QUESTIONS
1 Describe the structure of DNA, including the following:
a shape
b names of the matching bases
c three main components that make up the molecule. Hint:
two form the ‘backbone’ of the molecule.
2 How does the unique structure of DNA enable it to perform
its functions?
3 List three roles of DNA in a cell.
SCIENCE UNDERSTANDING
» DNA is a helical double-stranded molecule that occurs
bound to proteins in chromosomes in the nucleus, and as
unbound circular DNA in the cytosol of prokaryotes, and in
the mitochondria and chloroplasts of eukaryotic cells
» the structural properties of the DNA molecule, including
nucleotide composition and pairing and the hydrogen bonds
between strands of DNA, allow for replication
» the genetic code is a base triplet code; genes include ‘coding’
and ‘non-coding’ DNA, and many genes contain information
for protein production
» protein synthesis involves transcription of a gene into
messenger RNA in the nucleus, and translation into an amino
acid sequence at the ribosome
» proteins, including enzymes and structural proteins, are
essential to cell structure and functioning
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CHAPTER 3 | DNA structure and function 53
FIGURE 3.2 An X-ray diffraction photograph of DNA. The DNA molecule was too small to see using conventional
methods, so X-rays were used. The image produced an accurate 3D shape.
The pairs of nitrogenous bases are known as complementary base pairs. Complementary pairing
is the phenomenon whereby guanine always hydrogen bonds with cytosine, and adenine always
hydrogen bonds with thymine. Guanine and cytosine share three hydrogen bonds, and adenine
and thymine share two hydrogen bonds. The complementary pairing helps produce the 3D helical
structure of DNA. Nucleotides are the base units of DNA.
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S U I A C & E L L I V N O G © , N W O R B N OT G N I R R A B . A / y r a r b i L o t o h P e c n e i c S
Where is DNA found in eukaryotes
and prokaryotes?
DNA occurs bound to proteins in chromosomes within the
nucleus of eukaryotic cells. The nucleus is enclosed in a
nuclear membrane to protect its interior. DNA is also found
in prokaryotes, but as unbound circular DNA in the nucleoid
region of the cytosol. The nucleoid region is not bound by a
nuclear membrane, and therefore the DNA is not contained
like it is in a eukaryotic cell. Unbound, circular DNA is also
EGELLOC
found in the mitochondria and chloroplasts of eukaryotic cells.
Prokaryote Eukaryote
Linear chromosomes
Circular in membrane-bound
chromosome nucleus
in nucleoid
region of cell
Cell membrane
Genetic information
encoded by DNA
Cytosol
Ribosomes
Cell wall
FIGURE 3.4 Structural similarities and differences between a prokaryotic cell and a eukaryotic cell
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Core of eight
histone molecules DNA double helix
2 nm
DNA coiled
around histones
30 nm
300 nm
More coiling
700 nm
1000 nm
Mitotic chromosomes
FIGURE 3.5 In the nucleus of eukaryotes, linear DNA is found bound to proteins and becomes tightly coiled to form chromosomes.
DNA is found in chloroplasts in eukaryotic plant and protist cells: DNA is found in mitochondria in all eukaryotic cells:
Outer
Thylakoids Chloroplast Ribosome
membrane
DNA
Intermembrane Inner Mitochondrial
space membrane DNA Ribosome
Inner
membrane
Matrix
Granum
Mitochondrial
Thylakoid matrix
space (lumen) Intermembrane
space
Stroma Outer Folds of the
Thylakoid membrane
membrane inner membrane
(cristae)
FIGURE 3.6 Circular DNA, which is not bound to proteins, is found in chloroplasts and mitochondria.
Key concept
DNA is a double-stranded helical molecule. In eukaryotic cells, DNA is found in a linear form bound
to proteins in the nucleus, and in an unbound circular form in chloroplasts and mitochondria. In
prokaryotic cells, DNA is found in an unbound circular form in the nucleoid region of the cytosol.
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OH
Deoxyribose sugar 3' end
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which form a ring, are numbered 1' to 5'. One of the ester bonds is formed with the 3' carbon of one
sugar ring and the other is formed with the 5' carbon of the next sugar ring. The chain of alternating
sugar molecules and phosphate groups is called the sugar–phosphate backbone.
RNA (ribonucleic acid) has a similar structure to DNA, except deoxyribose sugar is replaced with
ribose sugar.
A strand of nucleotides has directionality described using the phrase 5' to 3'. The 5' end starts with a
phosphate and the 3' end finishes with a sugar. DNA and RNA synthesis occurs in the 5' to 3' direction.
TABLE 3.1 Steps for how to draw and label DNA structure
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T 5 thymine
important because they are
the building blocks of each Hydrogen bonds
5' 3'
strand. P C G
S
5 Label the sugar–phosphate S
P
backbone sections of
P A T
the molecule, base pairs, S
S
‘phosphate’, ‘nucleotide’ and P
Key concept
The base unit of DNA is a nucleotide, which consists of one nitrogenous base, one deoxyribose sugar
and one phosphate group. The two strands of DNA are held together by weak hydrogen bonding
between the complementary nitrogenous bases: adenine and thymine, cytosine and guanine.
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The structural properties of the DNA molecule [its nucleotide composition, pairing and hydrogen
bonding (see Figure 3.12b)] are what allow DNA replication to occur. This is because the DNA strands
can function as template strands.
b
Hydrogen bonds
3 ' end
Base
P
S
T
S A
P
C G
P T A
S Sugar–
phosphate G C Nitrogenous
G
backbone bases
C C G
S
P
5 ' end A T
c
C G
C
Sugar C G
T A
Phosphodiester bond
T
Phosphate
G
FIGURE 3.12 a The DNA helix is a double-stranded molecule. b The two strands are held together by hydrogen
bonding between complementary nitrogenous bases. c As well as nitrogenous bases, nucleotides have a sugar–
phosphate backbone, in which the sugar molecules are linked by phosphodiester bonds.
DNA structure
View this link to
Question set 3.2 reinforce your learning.
DNA structure and
REMEMBERING UNDERSTANDING replication
1 State the three components of a DNA 4 Explain what is meant by the term ‘anti- DNA learning centre
nucleotide. parallel’.
2 Draw and label your own diagram of DNA, ANALYSING
following the instructions found in Table 5 Relate DNA’s structure to three of its
3.1 (page 57). functions.
3 What is one main difference between the
structure of DNA and RNA?
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CASE
STUDY
DNA: further accumulation of knowledge
When the structure of DNA was deduced, it is not only the roughly 1% of our DNA that
seemed to be the final piece of a biological contains genes that code for proteins that has
puzzle. It taught us how hereditary a function. The non-coding DNA (DNA that
information (the passing on of which was does not code for protein) appears to have
demonstrated by Mendel) was encoded. very important roles, such as regulatory and
Between the 1950s and 1980s, scientists structural functions. ENCODE scientists are
studying DNA thought most of our DNA was theorising that 80% of ‘junk DNA’ is active.
useless. They knew that small sections of DNA, See Coding and non-coding DNA, page 63.
known as genes, seemed to code for proteins, Today, scientists analyse DNA for many
but they wondered about the other sections purposes other than the study of heredity.
of the DNA. We now know genes can interact Genomics, such as is researched at the
with one another and with the environment to Australian Museum’s Australian Centre for
result in traits, but scientists still do not know Wildlife Genomics, is the study of the entire
what most of an organism’s DNA does. DNA sequence of an organism and of its
In the 1950s–1960s, Watson and Crick genes. Scientists know how to sequence the
and other collaborators had determined DNA (work out the order of nucleotides).
that DNA guides the production of RNA, and They do this for a range of purposes, such
RNA guides the production of protein, which as identification of individuals, paternity
may then be manifested as an observable testing, sex determination, measure of
characteristic. But the biology of DNA is much species relatedness, conservation, population
more complex than was initially thought. management and forensics.
Researchers working for the Encyclopedia
of DNA Elements (ENCODE) project, a Questions
public research consortium launched by 1 Define the term ‘knowledge accumulation’
the US National Human Genome Research and apply it to DNA discoveries.
Institute, have been mapping the parts of 2 List five uses of DNA analysis.
human chromosomes that are transcribed 3 Explain how Franklin’s first clear X-ray
(copied). In addition, they have been studying diffraction image of DNA laid some of the
how the copying of DNA is regulated and groundwork for the current uses of DNA
how the process is affected by the way the analysis. (Hint: structure can indicate the
DNA is packaged. In 2012, they found that it mechanisms for function.)
Key concept
DNA replication is semi-conservative. Each of the new DNA molecules that are produced have
one strand that is conserved (i.e. the parental strand) and one that is new (i.e. the daughter
strand).
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Parental
strand
Daughter strands
FIGURE 3.14 Replication of DNA. The specific relationships between A and T and between C and G ensure that
the sequence of bases in the daughter DNA is exactly the same as that in the parent DNA.
As DNA strands are antiparallel, DNA polymerase moves in opposite directions on the two strands
during synthesis. On the leading strand, DNA polymerase is moving towards the replication fork
and synthesises continuously. On the lagging strand, DNA polymerase is moving away from the
replication fork and synthesises in pieces called Okazaki fragments. The process of DNA replication is
summarised in Table 3.2 (page 62).
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semi-conservative.
Figure 3.16 illustrates the continuous and discontinuous synthesis of DNA along each of the
strands. Synthesis is continuous along the leading strand, with additional nucleotides being added
one after the other. It is discontinuous along the lagging strand because it is a 3' to 5' strand and DNA
polymerase can only synthesise new DNA in a 5' to 3' direction. Primers are attached at short intervals,
starting from the replication fork. DNA polymerase synthesises short strands of new DNA starting at
each primer, in a 5' to 3' direction. The short strands are called Okazaki fragments.
DNA polymerase moves in opposite directions on the two anti-parallel parent strands. DNA
polymerase removes the RNA primers and replaces them with DNA nucleotides. DNA ligase joins
the Okazaki fragments together to create a continuous strand. Ligase catalyses the formation of a
phosphodiester bond.
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Thymine
Cytosine
Guanine
Leading strand
3' 5'
Helicase
5' 3'
Lagging
Original strand
DNA
molecule
Replication
fork
Okazaki fragment
FIGURE 3.16 DNA replication showing the leading and lagging strands
for the production of proteins, and proteins are the link between the stored genetic code, the
genotype, and observable traits, called the phenotype.
The majority of the human genome is comprised of non-coding DNA. The German botanist
Hans Winkler invented the term ‘genome’ in 1920 by combining the words GENe and chromosOME.
A short definition of genome is ‘all the DNA in a cell’, and this includes the genes and also DNA that is
not part of any gene. The sections of DNA that do not code for a protein are classified as non-coding
DNA. Some non-coding DNA is transcribed into functional non-coding RNA molecules, such as
transfer RNAs and regulatory RNAs. Historically, non-coding DNA was referred to as ‘junk DNA’, but
through recent advances in knowledge, scientists have found that some of the non-coding DNA is
important and therefore not actually ‘junk’.
Nucleus
Chromosome
Gene 1 Gene 2
FIGURE 3.17 Coding versus non-coding DNA in a eukaryotic cell: 75% of non-coding DNA occurs between
genes. Introns occur within genes and they make up the remaining 25% of non-coding DNA.
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CHAPTER 3 | DNA structure and function 65
again read by cellular machinery and is translated into a single amino acid. Each sequence of three
nucleotides codes for an amino acid. Given that some proteins are made up of hundreds of amino
acids, the code that would make one protein could have hundreds, sometimes even thousands, of
triplets contained in it.
Key concept
The genome sequence consists of coding DNA (genes) and non-coding DNA. Three coding DNA
nucleotides make a triplet, which matches an mRNA codon.
Codons
A series of three nucleotides found in mRNA.
They act as a code for an amino acid e.g.
Enzymes
UAU codes for the amino acid tyrosine.
Help break or form new bonds
A START codon (AUG) initiates translation, and
e.g. RNA polymerase
a STOP codon (UAG) brings the process to an end.
FIGURE 3.19 Major materials required in protein synthesis and their roles
Genes are found in chromosomes in cells. They are sequences of DNA that code for a protein. It is
only during cell division that the DNA can leave the nucleus of a eukaryotic cell. Otherwise, it remains
there, ready for future cell division (mitosis or meiosis). Thus, the DNA code (genes) must be transcribed
into messenger RNA (mRNA) while still inside the nucleus. The mRNA can fit through the nuclear pores
because it is a short, single-stranded molecule. Therefore, the mRNA can carry the code of instructions
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to the ribosome, where translation can take place. The ribosome binds to the mRNA. Each codon
attracts the corresponding anticodon that forms part of a tRNA (transfer RNA) molecule. The tRNA
molecule carries the amino acid that is specific to the codon. As one codon at a time moves into and is
read by the ribosome, successive tRNAs transport amino acids to it, translating the code by dropping off
amino acids in a sequence that matches the sequence of codons. Gradually, a polypeptide is produced
(a string of amino acids, joined by peptide bonds). The polypeptide can detach and fold to form a
protein by itself, or attach to other polypeptides and then fold to form a protein.
Transcription in eukaryotes
Transcription, a process that produces mRNA from DNA, occurs in the nucleus in eukaryotes. During
transcription, one section of DNA, called a gene, is unwound and separated ready for copying.
RNA polymerase moves step by step along the DNA molecule, separating the two strands. Only
the template strand is copied. The template strand is also known as the antisense or non-coding
strand. The other strand is known as the non-template, sense or coding strand. The coding strand
has the same code as the mRNA, except in RNA uracil replaces thymine. The sequence of the DNA
nucleotides determines the sequence of the RNA nucleotides, because RNA polymerase attaches
the RNA nucleotide that is complementary to each DNA base. The complementary pairs are added
according to the base-pair rules, shown in Table 3.3.
TABLE 3.3 The complementary base pairs attach during transcription according to base pair rules.
Cytosine Guanine
Guanine Cytosine
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A promoter attaches to help the DNA template strand to locally separate from the non-template
strand, initiating transcription. RNA polymerase binds to the DNA to get ready to start synthesis. RNA
polymerase synthesises the mRNA in a 5' to 3' direction, anti-parallel to the template strand. The mRNA
nucleotide triplets are called codons. The codons are complementary to the template strand but
almost identical to the non-template/coding strand, except for uracil replacing thymine. After the RNA
polymerase enables elongation of the strand, the mRNA molecule detaches as pre-mRNA. Pre-mRNA
requires processing before it exits the nucleus via the nuclear pore. Stretches of non-coding DNA (known
as introns) are removed and the remaining stretches of DNA (known as exons) join to form mature mRNA.
YCARETIL CIFITNEICS
As part of the normal process of generating proteins from genes stored in DNA, the code for
constructing a particular protein is passed from stored DNA to a form that is transportable
known as messenger RNA (mRNA). The strip of mRNA that is first formed when the DNA code
is copied has excess baggage. In most eukaryotes, the mRNA initially carries the instructions
for making a protein, but also carries extra nucleotides that are not needed. The unrefined
mRNA is called pre-mRNA.
Before the mRNA can leave the cell nucleus, non-coding regions called introns are cut out
in a process called (pre-)mRNA splicing. The remaining exons join together as the final set of
refined instructions, ready to move out of the nucleus via a nuclear pore. The refined mRNA
is called mature mRNA. It performs the function of carrying the code to the translation site,
where proteins are built one amino acid at a time according to the code.
The discovery of mRNA splicing in the late 1970s was simultaneous with the revelation mRNA splicing
that a single species of pre-mRNA could be spliced in different ways, creating multiple, distinct Watch this animation
to help you understand
mature mRNAs. This is now known as ‘alternative splicing’. The various mature mRNAs pre-mRNA splicing:
contain different combinations of exons. The different combinations give rise to different
proteins.
Scientists at the American Society
for Microbiology have studied alternative
splicing in Apicomplexan parasites.
Apicomplexan parasites are pathogens
(organisms that cause an infectious disease)
found in humans and domestic animals.
These parasites have also been reported
MSI/LOP NIALA/yrarbiL otohP ecneicS
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antisense strand).
1 RNA polymerase binds Template
to a promoter region. strand
Codon
Strand of mRNA
FIGURE 3.23 The mRNA produced contains codons that are complementary to the DNA triplets.
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CHAPTER 3 | DNA structure and function 69
Untranslated Untranslated
region region
FIGURE 3.24 The coding region of DNA is transcribed into pre-mRNA, which is then processed to make
mature mRNA.
Key concept
Protein synthesis in eukaryotes includes the process of transcription. Transcription occurs in
the nucleus and is the process of transcribing the code from DNA into a smaller molecule called
mRNA, which can then leave the nucleus.
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After mRNA moves out from the nucleus through FIGURE 3.25 Ribosomes read codons to construct
a nuclear pore, it enters the cytoplasm and polypeptides.
travels to a ribosome, where it will be read and
translated. The translation process can be divided into three main stages: initiation, elongation and
termination.
Initiation
A ribosome binds to a molecule of mRNA. It ‘reads’ the mRNA nucleotides in threes. A group of three
consecutive nucleotides is called a codon. A special codon, AUG, is the start codon and codes for the
amino acid methionine. It signals the start of translation and the beginning of a polypeptide chain.
The tRNA molecule that contains the anticodon UAC is attracted to the start codon and pairs with it.
This tRNA molecule brings with it the amino acid methionine. At initiation, two codons enter and are
bound to the ribosome, but after that only one codon enters and is translated at a time.
Elongation
A tRNA molecule, which includes in its sequence an anticodon, is attracted to the corresponding
codon on the mRNA due to complementary base pairing. Each tRNA molecule carries an amino acid
specified by the codon that it pairs with. As one codon is read and exits the ribosome, another one
slides in to be read. tRNAs transfer the amino acids to the mRNA–ribosomal complex in the order
specified by the codons of the mRNA. The ribosomes catalyse the formation of covalent peptide
bonds between adjacent amino acids. The mRNA is moved through the ribosome in one direction
only. Once a tRNA molecule has dropped off its amino acid, it will return to the cytoplasm to reload
with the same type of amino acid. Note that the tRNA is not used up during translation, and some
amino acids are coded for by more than one codon.
Termination
Elongation continues until a stop codon in the mRNA enters the ribosome. The nucleotide base
triplets UAG, UAA and UGA do not code for an amino acid. Instead, any one of them acts as a signal
From DNA to protein
Watch this short video to stop translation. The polypeptide is then released and the mRNA leaves the ribosome. Once
on protein synthesis. removed, the polypeptide may fold (or join with another polypeptide to fold) to become a structural
or functional protein. The protein will either be used in the cell it was formed in or be transported out
of the cell for use elsewhere. Note that the tRNA is not used up during the translation process, and
some amino acids are coded for by more than one codon.
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Movement of mRNA
Cytoplasm
mRNA
Ribosome
Synthesis of protein
(translation)
Polypeptide
FIGURE 3.26 mRNA leaves the nucleus and binds with a ribosome in the cytoplasm.
Start codon
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Ribosome
Stop codon
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Secondary structure
Regular substructures
Interactions
between side
chains create
the 3D structure
Key concept
Protein synthesis in eukaryotes includes translation. Translation occurs at a ribosome in the
cytoplasm, and uses the code in mRNA to produce a sequence of amino acids called a polypeptide.
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3.6 PROTEINS
Proteins are built of their basic units or monomers (known as amino acids) and are essential to cell
structure and functioning. Some proteins are quite rigid, such as collagen (which plays a structural
role in the connective tissue of mammals). Other types of protein, such as enzymes, perform
functional tasks. Enzymes (e.g. lipase and trypsin) are catalysts that increase the rate of virtually all
of the chemical reactions within cells. The protein shape at the active site of an enzyme determines
the specificity of the enzyme: only specific enzymes can fit with specific substrates. In addition
to providing mechanical support and functioning as catalysts, proteins transport and store other
molecules (such as oxygen), provide immune protection, generate movement, transmit nerve
impulses, and control growth and differentiation.
A protein’s structure is vital to its function. A slight change in structure can alter the function
of a protein to the extent that cell death may be triggered. Programmed cell death (apoptosis) is
an important strategy for disposing of damaged or infected cells and those no longer needed in a
multicellular organism.
Proteins are built from a selection of 20 different amino acids. The amino acids are linked
together by peptide bonds to form polypeptide chains, which fold and/or are modified to form the
protein. The sequence of amino acids in a polypeptide is determined by the sequence of mRNA
codons in a strand of mRNA. If the sequence of codons is known, the sequence of amino acids can
be determined from an amino acid table (also known as a codon table, Figure 3.31. A codon table is
a translation table that identifies the amino acids that correspond to the mRNA codons. To find the
amino acid coded for by an mRNA codon, look for the three nitrogenous base letters in the table.
There are 64 possible base triplets (4 × 4 × 4), and three of these are stop codons that signal for
translation to stop.
Second base
U C A G Ala = alanine
Arg = arginine
UUU UCU UAU UGU
Phe Tyr Cys U
Asn = asparagine
UUC UCC UAC UGC
C
U Ser Asp = aspartic acid
UUA UCA UAA Stop UGA Stop A
Leu Cys = cysteine
UUG UCG UAG Stop UGG Trp G
Gln = glutamine
Gln
CUG CCG CAG CGG G Ile = isoleucine
Leu = leucine
AUU ACU AAU AGU U Lys = lysine
Asn Ser
AUC Ile ACC AAC AGC C Met = methionine
A
Thr
AUA ACA AAA A Phe = phenylalanine
AGA
AUG Met/ ACG Lys Arg G
AAG AGG Pro = proline
Start
Ser = serine
GUU GCU GAU GGU U Thr = threonine
Asp
GUC GCC GAC GGC C Trp = tryptophan
G Val Ala Gly
GUA GCA GAA GGA A Tyr = tyrosine
Glu
GUG GCG GAG GGG G Val = valine
FIGURE 3.31 The genetic code is shown by a codon table. The mRNA codons correspond to the 20 amino acids
used to build polypeptides during translation on the ribosomes. Three codons act as stop codons, and (under
certain conditions) the codon AUG initiates protein synthesis.
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The genetic code for keratin, a protein building block for hair, is transcribed and translated by
specialist cells underneath growing hair. The following sequence is part of the mRNA molecule that is
transcribed from the gene for keratin: AUGUCUCGUGAAUUUUCC.
To determine the sequence of amino acids, divide the nucleotides from the gene into sets of three.
AUG UCU CGU GAA UUU UCC
Then use the codon table (Figure 3.31) to translate the code. The first codon (AUG) is a start
codon that codes for an amino acid called methionine. Continuing along the gene, the entire
sequence for this section of the code is:
methionine–serine–arginine–glutamic acid–phenylalanine–serine
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institutions across seven countries sequenced Some of the 26 000 koala genes
the more than 3.4 billion base pairs and more identified in the koala genome project help
than 26 000 genes in the koala genome, explain the koala’s extraordinary ability to
which makes it slightly larger than the human survive almost exclusively on eucalypt leaves,
genome. a diet high in toxins. Researchers found an
You may be wondering how this helps abundance of genes for bitter taste receptors
the plight of the Australian koala? Koala joeys (which would allow koalas to identify the
are born after 35 days of gestation, when they least toxic leaves), as well as genes that code
are the size of a jelly bean. While they are in for proteins that help detoxify the poisonous
their mother’s pouch, they are protected by substances.
antimicrobial peptides in her milk. However,
when they are weaned they no longer have Questions
this protection. They are then susceptible 1 Propose a logical reason why it took
to a bacterial infection called chlamydia. so long for the nucleotides in a koala’s
Sequencing the genome has allowed scientists DNA to be sequenced (i.e. the order of
to characterise the architecture of their nucleotides to be determined)?
immune system and to identify genes that 2 List four changes in the koala’s environment
play a role in resistance and susceptibility to that makes them vulnerable today.
chlamydia. The DNA data can be used to help 3 Explain how our knowledge of the
develop vaccines, manage koala populations sequence of nucleotides (the genome)
and ultimately help with their long-term may be useful for the koala’s long-term
survival. survival.
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YTIVITCA
with DNA, the molecule that is the template Ser
Amino acid
for all the proteins produced by the cell.
Ribosomes, the sites of protein synthesis,
are found in the cytoplasm, outside the
membrane of the nucleus. DNA is unable
to move through the nuclear membrane,
so in order to produce a protein, a message
must be sent from the nuclear DNA to the
ribosome. tRNA
To do this, two processes take place:
1 transcription of the message from the
DNA into an mRNA molecule
2 translation of the message in the mRNA
into a specific amino acid sequence at
the ribosome. U C G
The molecule of mRNA is transcribed
from the template DNA strand using the Anticodon
complementary sequences. However, the FIGURE 3.33 The amino acid serine being carried by a
thymine present in DNA is replaced with tRNA molecule
uracil in RNA. The complementary pairs in
RNA are A–U and G–C.
Translation of the mRNA message occurs at ribosomes, where the sequence of nitrogenous bases
in the mRNA is read in groups of three called codons. Each tRNA molecule contains an anticodon
that is complementary to the codon of the mRNA, and each tRNA binds a specific amino acid.
The tRNA molecules bring their amino acids to the ribosome, where the amino acids are bonded
together, forming a long chain in a specific sequence according to the sequence of the mRNA being
translated.
Aim
To simulate the production of a protein from a sequence of DNA
You will need
• A3 paper
• Coloured pencils
What to do
The sequence of nucleotides that will be used in this activity codes for the enzyme lysozyme.
ATGACCCATGCGTTAGGC
Refer to the genetic code in Figure 3.31 (page 74), the sequence of nucleotides in mRNA that codes
for each of the specific amino acids needed in the synthesis of proteins in nearly all organisms.
1 Divide a piece of A3 paper into six sections.
2 In the first section of the A3 paper, draw a nucleus containing the DNA template for the
complementary strand, using the sequence provided above.
3 In the second section of the A3 paper, show the process of transcription of the template DNA into
mRNA.
4 In the third section of the A3 paper, show the movement of mRNA out of the nucleus.
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5 In the fourth section of the A3 paper, show the process of translation of the message.
6 In the fifth section of the A3 paper, describe in words, the process of protein synthesis that you
have just illustrated in diagrams.
What did you discover?
1 Describe in your own words the processes of transcription and translation. Include an explanation
of where in the cell each process takes place and which other molecules are involved in each
process. Explain why the cell needs each process for sustaining life.
2 Describe how the hydrogen bonds are re-joined between complementary DNA nucleotides during
transcription.
3 State the sequence of the nucleotides in the transcribed mRNA sequence of lysozyme.
4 DNA is transcribed to make mRNA, but not all transcribed DNA contains codes for a protein.
These non-coding sections get broken down to make nucleotides for re-use in the nucleus. What
is the name for these sections?
5 State the anticodon sequence for the lysozyme protein. Explain the importance of anticodons in
these processes.
6 State the final amino acid sequence coded for by the length of DNA you are working with.
7 Explain the role of uracil in the process of transcription.
Strawberries have eight sets of chromosomes, making them octoploid (along with pansies, dahlias and
sugar cane). Strawberries are a very effective model for DNA extraction, because their juice provides a
pink solution in which, when treated, the white strands of DNA can be clearly observed.
Aim
To use restriction enzymes to cut DNA into fragments of varying length
Time requirement
30 mins
Materials
• 3 strawberries
• 1 resealable plastic storage bag
• 10 mL DNA extraction buffer
• 5 mL protease enzyme
• 1 inoculation loop
• Test tube
• 2 plastic pipettes
• 1.5 mL centrifuge tube
• Filter paper
• Glass funnel
• 5 mL ice-cold 95% ethanol
• Personal protective equipment, such as lab coats, safety glasses, gloves
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Risks
WHAT ARE THE RISKS IN THIS INVESTIGATION? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
Ethanol is highly flammable. Store and use away from ignition sources. Do not heat in a
container over an open flame; use a water bath that is spark proof.
Protease enzyme may cause skin irritation. Wear appropriate personal protective equipment at all times,
including eye protection and gloves. Wash skin immediately if
contact does occur.
Disposable gloves may pose an allergy risk. Use a type of glove that has no allergy risk and is suitable for the
chemicals being used.
Strawberries may pose an allergy risk. Never allow any food to be eaten in class. Check whether anyone
has a known allergy.
Procedure
1 Place three strawberries in a plastic storage bag and re-seal.
2 Squeeze the strawberries in the bag with your fingers until it they are lightly crushed.
3 Open the storage bag and add 10 mL of the DNA extraction buffer.
4 Re-seal the bag and crush the contents again, using your hands to mix the ingredients. Continue
until a thick juice is produced.
5 Using a plastic pipette, add 5 mL of protease enzyme and hand mix through for one minute.
6 Filter the strawberry juice into a test tube. To do this, place filter paper in a glass funnel over the
test tube. Pour the strawberry juice into the filter paper. A clear, pulp-free juice will filter through
into the test tube.
7 Remove the filtering apparatus and slowly pour approximately 5 mL of cold ethanol or 70–90%
isopropyl alcohol into the test tube to cover the strawberry juice solution. Do not agitate the
solution. The ethanol should sit separately on top of the strawberry solution.
8 The cell walls will break down and white strands of strawberry DNA will become visible in the ethanol
layer as the DNA is extracted from within the nuclei. The strands will look like very fine spider webs.
9 Use an inoculation loop to ‘spool’ strands of DNA and observe them more closely. Alternatively,
hold the test tube at eye level and use a pipette to draw up the DNA strands in the top layer of the
fluid.
10 Transfer the DNA strands to a centrifuge tube for further examination.
Results
Describe what you see.
Discussion
1 What roles did the detergent, protease enzyme, ethanol and salt have in the process of DNA
extraction? Many of the foods we consume contain DNA. Explain why ingesting DNA from other
plants and organisms does not cause us harm or alter our DNA.
2 What is the function of DNA?
3 Where is DNA located within a cell?
4 Draw a diagram of DNA. Include five pairs of nucleotide bases and label the hydrogen bonds
between these bases.
5 Explain why the ability to remove DNA from cells is important to scientists.
6 Why does DNA go up towards the surface when the ethanol is added?
7 Summarise your findings and include a flow chart detailing the steps taken to release DNA from
the strawberry cells.
Taking it further
Perform another DNA extraction using alternative plants, such as banana, kiwifruit and wheatgerm.
Following the same procedure, compare the results of the DNA extraction between the various plant
samples.
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CHAPTER 3 SUMMARY
Chapter 3 • Rosalind Franklin, James Watson, Francis the newly formed molecule is new and the
Activity sheet
Crick and Maurice Wilkins are credited with other is from the original strand.
the discovery of the structure of DNA in 1953. • The enzymes helicase, polymerase and
• DNA is bound to proteins, forming ligase facilitate DNA replication.
linear chromosomes in the nucleus of • All of the DNA in the cell of an organism
eukaryotes, but unbound and circular in the is referred to as its genome or genetic code,
mitochondria and chloroplasts. and the nucleotides are grouped into threes
• DNA also exists in an unbound, circular (triplets).
form in the nucleoid region of the cytosol of • DNA includes coding and non-coding
prokaryotes. sections. Coding DNA contains instructions
• DNA is composed of four different types for the production of a protein.
of nucleotides; each nucleotide has a • Protein synthesis involves transcription
deoxyribose sugar, a phosphate group and a of a gene into messenger RNA (mRNA) in
nitrogenous base. the nucleus, and translation of the mRNA
• The two strands of a DNA double helix are code into an amino acid sequence at the
linked by weak hydrogen bonds between ribosome.
the complementary bases: adenine (A) pairs • A chain of amino acids is called a
with thymine (T), and cytosine (C) pairs polypeptide. At the conclusion of protein
with guanine (G). synthesis, a polypeptide will fold or be
• Like DNA, RNA is composed of nucleotides; modified to become an active protein.
however, in RNA each nucleotide has a ribose • Protein structure determines function, and
sugar, and it contains uracil (U) instead of can be described as primary, secondary,
thymine (T). tertiary or quaternary.
• The sugar–phosphate backbone of the • Proteins are essential for an organism’s
nucleotides is arranged in a 5' to 3' direction. survival. Two of the main protein types
• DNA replicates by a semi-conservative are structural proteins (e.g. collagen) and
mechanism, whereby one of the strands in enzymes (e.g. lipase).
CHAPTER 3 GLOSSARY
5' to 3' The direction of synthesis on a e.g. transcription machinery includes RNA
nucleotide strand polymerase and binding factors or proteins; the
Amino acid An organic compound that is a translation machine is the ribosome
building block within a polypeptide or protein Chromosome A structure composed of DNA
Amino acid table See codon table and protein that contains linear arrays of genes
carrying genetic information; prokaryotes
Anticodon A set of three consecutive
nucleotides that is part of a tRNA molecule generally have one circular chromosome,
and is complementary to a codon; the three whereas eukaryotes have a number of linear
nucleotides consist of any of the four bases chromosomes
adenine, uracil, guanine or cytosine Coding DNA The sections of DNA that code
Apoptosis A programmed series of events that for a protein; they contain instructions that
leads to cell death (as a result of the dismantling determine the order of the codons in the mRNA,
of the internal contents of the cell by various which in turn determines the order of the amino
enzymes, including caspases) acids in a polypeptide or protein
Cellular machinery ‘Biological machines’ that Codon A set of three consecutive nucleotides
work to manufacture a biological molecule; found in a DNA or an mRNA molecule; it
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carries codes for a specific amino acid; the three DNA; two linear strands that run opposite to
nucleotides consist of any of the four bases each other and twist together
adenine, thymine, guanine and cytosine in the Enzyme A reusable, biological catalyst that
case of DNA, or adenine, uracil, guanine and lowers the activation energy of a chemical
cytosine in the case of mRNA reaction, making it proceed faster; it is a protein
Codon table (amino acid table) A translation that is sensitive to factors such as temperature
table for determining the amino acid coded for and pH
by an mRNA codon; the three nitrogenous base Gene A unit of heredity that transmits
letters can be looked up in the table to find the information from one generation to the
name of the specified amino acid next; a segment of DNA that codes for a
Complementary base pairing The phenomenon polypeptide
whereby guanine always hydrogen bonds Genetic code The term used for the way that
with cytosine and adenine always hydrogen the four nitrogenous bases of DNA (adenine,
bonds with thymine; guanine and cytosine thymine, guanine and cytosine) are ordered and
share three hydrogen bonds, and adenine contain information to direct the production of
and thymine share two hydrogen bonds; the specific proteins
complementary pairing enables the helical
Genome All of the genetic material contained
structure of DNA to form
in an organism or a cell; it includes the sequence
DNA (deoxyribonucleic acid) The information- of the DNA in the chromosomes within the
containing molecule present in all living things nucleus, mitochondria and chloroplasts
that contains the instructions, written in a
Genome sequence The sequence of
chemical code, for the production of proteins by
consecutive DNA ‘letters’ spanning all the
the cell; the information it contains is sufficient
chromosomes of a cell from start to finish
for the making and maintaining the organism; in
addition, DNA is the genetic material that passes Genomics The study of the genome – how
this information on to the next generation genes interact with one another, the environment
and the resultant proteins produced; knowledge
DNA helicase An enzyme that helps the two
of an organism’s entire DNA sequence
strands of the DNA double helix unwind and
separate Heredity The study of inheritance, the genetic
transmission of characteristics from one
DNA ligase An enzyme used to catalyse the
generation to another
formation of a bond between two pieces of DNA
Lagging strand The DNA strand that
DNA polymerase A member of a class of
is synthesised discontinuously in small
enzymes found in all living things, that
fragments, called Okazaki fragments, in a
synthesises new strands of DNA based
5' to 3' direction
on a template strand and according to
complementary base-pair rules; DNA Leading strand The DNA strand that is
polymerases are important tools in synthesised continuously in a 5' to 3' direction
biotechnology because they are capable of Mature mRNA mRNA that has been processed
making exact copies of fragments of DNA, after transcription; non-coding introns have
enabling efficient and accurate amplification of been removed and the remaining exons joined
DNA templates mRNA (messenger RNA) The RNA molecule
DNA replication The process a DNA molecule that carries the information from a gene to a
undergoes to make a complete and identical ribosome for translation into a polypeptide; in
copy of itself, readying a cell for cell division; eukaryotes it carries the message from the DNA
it is a semi-conservative process, and the two in the nucleus out through a nuclear pore to a
daughter molecules contain exact copies of the ribosome in the cytoplasm
genetic material in the parent molecule Nitrogenous base A structural component
Double helix The structure formed by double- of the nucleotides that make up DNA or
stranded molecules of nucleic acids such as RNA
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Non-coding DNA All of the DNA sequences Promoter A relatively short nucleotide
within a genome that are not found within sequence in the DNA of a gene that attaches
mRNA-coding exons; examples include introns, RNA polymerase to the start of the strand to
promoters and enhancers of genes; they have no begin synthesis of RNA during transcription
known function Protein A type of essential biological
Non-template/sense/coding strand The coding macromolecule; the structure of each protein is
strand is also known as the sense strand; this vital to its function; proteins are made of one or
strand has the same code as the mRNA strand, more folded and modified polypeptides
except uracil replaces thymine; it is not read
Protein synthesis The process whereby cells
during transcription produce proteins from instructions encoded in
Nuclear pore A small opening in the nuclear genes found in the coding section of the cell’s
membrane through which relatively small DNA; the process can be divided into two major
single-stranded molecules such as mRNA steps: transcription and translation
can fit
Replication fork The junction between the
Nucleoid The region within a prokaryotic cell unwound single strands of DNA and the intact
that contains the genetic material double helix during DNA replication
Nucleotide The basic building block of
Ribosome An organelle found in prokaryotes
nucleic acids (DNA and RNA); nucleotides are
and eukaryotes; it facilitates the interaction
linked together by phosphodiester bonds; each
of mRNA and tRNA in transporting and
nucleotide is made up of a five-carbon sugar, a
connecting specific sequences of amino acids into
phosphate group and a nitrogenous base polypeptides (translation); it is mostly composed
Okazaki fragment A short fragment of DNA of rRNA and can be found attached to endoplasmic
synthesised during DNA replication; multiple reticulum or alone in the cytosol of a cell
fragments are joined together to make the
RNA (ribonucleic acid) A molecule consisting
lagging strand during replication
of a single strand of nucleotides; it plays an
Organelle A specialised part of a cell that has essential role in protein synthesis (as messenger
its own specific function; a ‘little organ’ RNA or transfer RNA) and as a structural
Peptide bond A covalent bond that links amino component of ribosomes
acids in a polypeptide
Semi-conservative replication The production
Phosphodiester bond A covalent bond that of two new DNA double-helix molecules,
links a 3' carbon in one sugar to a 5' carbon in each consisting of one parental strand and one
another sugar in DNA and RNA; it consists of a daughter strand
phosphate group, its covalent ester bond with
Sequencing The process of determining the
the 3' carbon and its covalent ester bond with the
order of nucleotides in a strand of DNA
5' carbon; this bond connects nucleotides, which
form the backbone of a DNA or RNA chain Template/antisense/non-coding strand The
strand of DNA that is read by a polymerase
Plasmid A small, circular piece of DNA,
found in bacteria, that is able to replicate enzyme in order to attach the complementary
independently of the cell’s chromosome; base pairs
engineered plasmids may carry antibiotic- Trait An inheritable characteristic; phenotype
resistance markers Transcription The synthesis of mRNA in which
Polypeptide A string of amino acids, joined by the sequence of nucleotides is complementary
peptide bonds to the sequence in the stored DNA code, except
Pre-mRNA The strand of precursor mRNA that that in RNA, uracil replaces thymine
is first produced after transcription of a gene; it Translation The synthesis of a polypeptide
contains introns and exons (from non-coding using the information in mRNA; the RNA
and coding DNA, respectively); it is processed nucleotide code is translated into an amino acid
to become mature mRNA sequence
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Triplet A set of three consecutive tRNA (transfer RNA) An RNA molecule that
nucleotides in DNA; the three nucleotides contains an anticodon (complementary to
may consist of any of the four possible an mRNA codon); it carries an amino acid
nitrogenous bases: adenine, thymine, guanine (specified by the codon) to a ribosome during
or cytosine protein synthesis
Understanding
4 Define enzyme, and differentiate between the enzymes used in DNA replication and those used
in protein synthesis.
5 Explain how accumulated information led to our current knowledge of DNA structure.
6 Describe how DNA may contain coding and non-coding DNA.
7 Explain why each of the following statements is incorrect and rewrite it as a correct statement.
aOne strand of the DNA double-helix ladder is maternal and the other strand is paternal.
bDifferent organisms have different types of DNA, so they are very different from one
another.
8 Describe the effect of a protein’s structure on its function.
Applying
9 State two similarities and two differences between transcription and DNA replication.
10 Explain how nucleotides join together to form a polynucleotide chain.
11 Differentiate between pre-mRNA and mature mRNA.
12 Explain how the weak hydrogen bonding between nucleotides (complementary base pairing) in
a DNA molecule allows semi-conservative DNA replication to occur.
13 Four amino acids are linked together in a very short section of a collagen protein.
Glycine–Proline–Proline–Alanine
Use the amino acid table (Figure 3.31, page 74) to determine the mRNA and DNA genetic code
for this short section of the protein.
Analysing
14 Write the full names of DNA and RNA and record their structural differences in a table.
15 Scientists from the Australian-led Koala Genome Consortium have sequenced the koala
genome. Analysis of the data reveals there are more than 26 000 genes on the 16 chromosomes.
a Name the nucleotide that would be present in approximately the same number as the
adenine nucleotides sequenced.
b Explain whether you would expect the sequence of DNA to be exactly the same in all
members of the koala species.
c Estimate how many chromosomes a baby koala would get from its mother.
d State a koala’s diploid number and its haploid number.
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Evaluating
16 ‘DNA is self-replicating.’ Discuss whether DNA needs anything else in order to replicate itself.
17 DNA polymerase synthesises DNA in a 5' to 3' direction. Does this mean DNA polymerase
moves in the same direction as helicase on the leading and lagging strands?
Creating
18 Create a poster describing DNA structure.
19 Make a clear set of instructions for a cell to make a protein.
Reflecting
20 Watson and Crick used the contributions of scientists before them as a basis for their
hypothetical model of DNA. Explain how your own understanding of DNA structure developed
through your accumulation of knowledge.
strands at the same time. These strands are 10 Describe the structure of DNA and the
synthesised: main steps in DNA replication in a cell.
A in the same direction (10 marks)
B in opposite directions [Q36a 2016 SCSA]
C by RNA polymerase
D by DNA helicase.
[Q18 2018 SCSA]
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4
VARIATION AND CHAPTER 4 CONTENT
MUTATION By the end of this chapter, you will have covered the
following material.
STARTER QUESTIONS
1 After a protein is made from a gene, how does this relate to
an observable trait?
2 Can you explain how genes and the environment interact? Is
there evidence for this?
3 Mutations can cause great harm in organisms, even death.
How can they possibly be beneficial?
4 Are mutations the only source of variation in a population?
SCIENCE UNDERSTANDING
» the phenotypic expression of genes depends on the
interaction of genes and the environment
» mutations in genes and chromosomes can result from
errors in DNA replication or cell division, or from damage by
physical or chemical factors in the environment
» variations in the genotype of offspring arise as a result of the
processes of meiosis, including crossing over and random
assortment of chromosomes, and fertilisation, as well as a
result of mutations
ATAR Biology Syllabus, Government of Western Australia,
School Curriculum and Standards Authority
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odranoeloreupma/moc.kcotSi
multicellular organism, each of its cells has
the same DNA and therefore the same genes.
However, multicellular organisms have
differentiated cells that perform specialised
functions. Differentiated cells only have a small
number of genes activated; for example, muscle FIGURE 4.1 Genetic variation can be observed in the
cells only have those genes turned on that phenotype of little penguins found on Penguin Island,
control muscle factors. Western Australia.
A bird with vivid splashes of yellow, lilac and green hops onto a branch and tips her black-
topped head from side to side. She is a Gouldian finch (Erythrura gouldiae). The Gouldian finch
is a native inhabitant of the tropical grasslands of northern Australia, as well as a popular
aviary bird. There are three distinctive forms distinguishable by head colour: red, black, and
yellow-orange (Figure 4.2). They were once found across northern Australia in their millions,
but now are distributed sparsely in small flocks in the Kimberley and Northern Territory.
The colour variation is associated with a suite of other differences in the birds. For example,
the red-headed birds tend to be the most aggressive and frequently establish themselves at the
top of the pecking order. By contrast, black-headed birds tend to be more inquisitive and are more
likely to explore novel features in their environment. There are physiological differences, too.
The red-headed birds are comparatively sensitive
to starvation if food becomes scarce, and during
breeding they respond by reducing the number of
eggs they lay. Under the same conditions, however,
nujeemesar ianiV/moc.kcotsrettuhS
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to maturity. Around 60% of the sons and less than 20% of the daughters from such a pairing
survive.
The Gouldian finch offers insights into the nature of variation. Variations in many features
are observed between members of the same species.This is termed intraspecific variation. The
form that any particular feature takes in an individual organism is described as a phenotype.
Phenotypic variations can be classified according to whether they relate to the organism’s
appearance, chemical make-up or function.
What is the cause of the variation observed between individual birds? In essentially
every case, the phenotype is shaped by the presence or absence of specific proteins and the
activity of those proteins. For example, whether a bird’s head feathers are yellow, black or
red depends on the presence of specific enzymes that generate the pigments that colour the
feathers. A bird’s response to starvation is dependent upon the types and activities of the
hormones and metabolic enzymes it has to sustain it during the period of an altered diet. As
proteins are the products of genes, it is a straightforward conclusion that each phenotype
has an underlying genetic basis.
Recall that diploid (2n) cells have two copies of every gene, each copy residing on one of a
pair of homologous chromosomes. However, each copy of a particular gene is not necessarily
identical. There are often small differences in the DNA sequence of the gene from one copy
to another. These different versions of the same gene are called alleles. Essentially, all of the
body cells of an individual Gouldian finch carry the same chromosomes. Each cell therefore
possesses two alleles for any particular gene, and the two alleles may be the same or they may
be different. If a single gene determines the colour of the head feathers, it is the combination of
alleles the bird has (the genotype) that determines whether that colour will be yellow or black
or red (the phenotype).
The colour of the head feathers, the position occupied in the social hierarchy, the response
to environmental challenges, mate selection and many other features are, largely, an outward
expression of the alleles each bird possesses. The Gouldian finch also demonstrates, however,
that variation is not entirely explained by the alleles each individual has. The size a bird grows
to and the physiological state of the animal are influenced by the availability of food. Breeding
behaviour and outcomes are influenced by the availability of potential mates. To a greater or
lesser extent, the organism’s environment also plays a part.
Questions
1 State the colour variation you can observe in the finches in Figure 4.2.
2 Describe the main genetic source of the observed colour variation.
3 The literature describes other phenotypic variants, such as size, that are affected by
the environment. Choose one and describe how the environment influences the phenotype.
Variation
Variation can be observed among siblings in a family, within a population of a species and between
populations of a species. In this chapter, we explore the mechanisms that drive variation. Three
main mechanisms will be discussed: environmental factors, mutation and sexual reproduction
processes. Environmental factors may influence genotypic and phenotypic diversity. Mutation and
sexual reproduction processes may increase genetic diversity. Genetic factors such as dominance,
recessiveness, codominance and other allele systems also influence phenotype, and these will be
discussed in Chapter 5.
A phenotype is an observable trait produced by the actions of one or more gene-encoded
proteins. The phenotype is influenced by the genotype and the effects of the environment. The
genotype is the genetic composition of an organism for a particular trait. It is the set of alleles that an
organism has for a particular trait. An allele is a form of a gene. Different alleles code for the same trait
but result in different versions of the trait.
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Sexual
Mutations
reproduction
Genotype Environment
Phenotype
FIGURE 4.3 Phenotype is influenced by three mechanisms: mutations, sexual reproduction and environment.
Variation also exists between different species; for example, in penguins. Since penguins live
at varying latitudes, and feathers account for nearly 85% of a bird’s insulation, it should follow
that different species would have different feathering patterns. All penguins maintain a body
temperature of around 38°C, but they live in temperatures that range from 32°C on Penguin Island
to –60°C on the sea ice of Antarctica. Banded penguins, such as Humboldt and African penguins,
have featherless patches on their faces and feet to which they divert blood for cooling when they
are overheating. In contrast, the Adélie penguin, one of two Antarctic species, has complete feather
coverage up to the base of its beak.
Key concept
The interaction between genes and the environment leads to variation in observable traits (the
phenotype) of individuals.
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oknehcjerdnA aniraM/moc.kcotsrettuhS
conducive to blue flowers. The pH does
not change the genome (the total DNA
content of the individual organism) because
the genotype does not change. It is the
interaction of the environment with either
the gene or the protein it codes for that
determines the sex in turtles and the flower
colour in hydrangeas. FIGURE 4.4 Soil pH can affect flower colour in hydrangeas.
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soyuC oaJ/moc.kcotsrettuhS
FIGURE 4.5 Temperature affects sex determination in sea turtles.
Questions
1 Explain the cause of the abnormal male-to-female ratios in the green sea turtles?
2 Describe the impact this may have on green sea turtles over the long term.
3 Evaluate the method used in this case study to re-establish a more natural sex ratio. Can you
design a better method?
Internal environmental factors include the action of hormones. For example, the release of
gonadotrophin-releasing hormone (GnRH) triggers the start of puberty in humans. Some hormones
are driving forces for growth, and low levels can result in small birth weights and slow development.
A group of veterinary drugs called ‘hormonal growth promotants’ (HGPs) mimic cattle growth
hormones and are used in Australia to increase muscle growth and meat yield.
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Key concept
Internal and external environmental factors can influence phenotype. Internal environmental
factors include hormones, which are chemical messengers. External environmental factors
include temperature and access to nutrients. Epigenetics can also influence phenotype by
controlling gene expression.
A mutation
occurs
Normal cell
FIGURE 4.6 A mutation in a somatic cell affects only the cell in which it occurs and its daughter cells.
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Mutations that occur in germline cells affect sex cells called gametes, and they have the
potential to be inherited (passed on to the next generation) and be incorporated into every cell
of the offspring (Figure 4.7). Often, the germline mutation results in developmental abnormalities
that cause the affected embryo or foetus to be spontaneously aborted. If carried through to birth,
the germline mutation may result in congenital disorders in the offspring, with varying degrees
of severity. Occasionally, a gene mutation changes or enhances the function of the protein that
it codes for. If circumstances suit, it can enhance the survival of the organism. If the mutation is
consistently passed on from one generation to the next, a new allele becomes established in the
population. Such mutations in germline cells may contribute to the species’ gene pool and can
influence whole populations and their evolution.
Meiosis
Normal cell
FIGURE 4.7 Mutations in germline cells affect all body cells of the individual organism that inherits them.
Recessive mutations that lead to a loss of function can be masked if a normal copy of the gene
is present; for the mutant phenotype to occur, both recessive alleles must contain the mutation.
Dominant mutations lead to a mutant phenotype even in the presence of a normal copy of the
gene. The phenotypes associated with dominant mutations may represent either a loss or a gain of
function.
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Mutation studies
The DNA repair mechanisms are usually highly effective, so mutations are comparatively rare.
Mutation rates vary, however, from one species to another. Low mutation rates made it difficult for
geneticists to investigate mutations until the discovery in 1927 by an American biologist, H. J. Muller,
that the mutation rate in the fruit fly (Drosophila melanogaster) can be greatly accelerated by
irradiation with X-rays. Since then, it has been found that other environmental mutagens speed up
the mutation rate. The discovery of mutagens made it easier to study the cause and transmission
of mutations. Bacteria and plants are used in most experiments, although scientists also perform
experiments on animal cells using tissue culture techniques.
From these studies, three main ideas have emerged.
First, mutations arise spontaneously and are not directed by the environment. Environmental
influences can greatly affect the mutation rate, but they cannot induce a particular mutation to occur.
Second, mutations are persistent. They tend to be transmitted through many cell divisions
without further change, although there is always the possibility that another mutation may occur,
either producing a new feature or a return to the original condition.
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Third, the majority of mutations confer disadvantages on the organisms that inherit them. The
premature death of organisms with harmful mutations (before reproductive age) prevents harmful
mutations accumulating in populations. The occurrence of a useful mutation is an extremely rare
event.
TTAA
AATT
TTAA
AATT
TTAA
AATT
Repeat
sequences
TTAA
AATT
TTAA
AATT
TTAA
TTAA
Deletion Insertion
FIGURE 4.9 When homologous chromosomes misalign during meiosis, unequal crossing over may occur. The
result is the deletion of a DNA sequence in one chromosome, and the insertion of a DNA sequence in the other
chromosome.
Larger-scale mutations can occur during anaphase in mitosis and during anaphase I or
anaphase II in meiosis when homologous chromosomes or sister chromatids do not separate at the
centromere. These larger chromosomal mutations will be discussed later in the chapter.
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Key concept
Mutations in DNA can cause permanent changes in genes and chromosomes, and can lead to
variation within species. Mutations can arise spontaneously during DNA replication. Insertion
and deletion mutations can arise during crossing over during meiosis.
Physical mutagens
Physical mutagens include various types of high-energy radiation that cause DNA damage (Table
4.1). One example is ultraviolet light (UV light), a natural component of sunlight. Public awareness
campaigns have drawn attention to the risks of excessive exposure to UV light, such as increased risk
of skin cancer. Physical mutagens often affect the nitrogenous bases of DNA, causing distortions in
the double helix. UV light, for example, fuses adjacent thymines or cytosines in the DNA sequence.
Ionising radiation, such as X-ray irradiation, causes the loss of adenine and guanine bases, although
the DNA backbone remains intact, creating gaps in the double helix. These aberrations disrupt
complementary base pairing. Ultimately, incorrect bases may be inserted in their place during DNA
replication.
Physical mutagens frequently also cause double-strand breaks, which are essentially
complete breaks in the chromosomes (Figure 4.10). Sometimes the broken ends leave single-
stranded overhangs that are complementary to one another. This enables them to bind to one
another and facilitates repair of the broken sequences. Other times the double-strand break
has no overhangs, or the DNA at the fragment ends is damaged so that these ends no longer
match. In such cases, mistakes can occur during repair, and the consequences may be especially
hazardous to the cell. Broken ends can be rejoined inappropriately to the wrong fragments of DNA.
Intervening segments of broken DNA can be lost. These kinds of anomalies result in chromosomal
rearrangements. An accumulation of double-strand breaks that occurs upon intense exposure to
physical mutagens is often lethal to the cell. Apoptosis of the cell in this situation helps to guard
against cancer formation.
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a b c
A G G G C T T C T A A A G A G G G C T T C A G G G C T T
T C C C G A A G A T T T C T C C C G T C C C G A A
T A A A G C T A A A G
A A G A T T T C G A T T T C
FIGURE 4.10 Compare a a single-stranded break in DNA with b and c double-stranded breaks. The double-
stranded break in c is the most difficult of the three for the cell to repair.
Chemical mutagens
The mechanisms by which chemical mutagens exert their effects vary (Table 4.2); however, a
common outcome is the substitution of one nucleotide for another. Mustard gas was introduced in
World War I as a chemical warfare agent, and was also found to be mutagenic during World War II
experiments. Sulfur mustard is a powerful irritant and blistering agent that damages the skin, eyes and
respiratory (breathing) tract. Sulfur mustard damages DNA, especially in the bone marrow. It can be
absorbed through the skin or inhaled.
Some chemical mutagens, such as 5-bromouracil, act directly as a substituting base. The
5-bromouracil resembles thymine and can become incorporated in place of it during replication.
However, unlike thymine, the incorporated 5-bromouracil can form hydrogen bonds with either
adenine or guanine. The ambiguous pairing affects DNA replication during subsequent cell divisions,
leading to a C–G pair being swapped for the original T–A pair.
Biological agents
Genetic mutations sometimes arise because of the action of invasive pathogens, such as bacteria and
viruses. Occasionally, the DNA of these pathogens becomes permanently integrated into the host
cell’s DNA, causing mutations in subsequent daughter cells (as in the case of Tasmanian devil facial
tumour disease, see page 45).
A number of viruses are also capable of horizontal gene transfer. Notable among them is the human
papillomavirus (HPV), which infects epithelial cells of human skin and mucosal membranes.
a b
Key concept
Environmental factors that cause mutations are called mutagens. Mutagens can be physical,
chemical or biological.
Question set 4.5
REMEMBERING APPLYING
1 Complete the following table: 5 A unique segment of DNA consisting of
MUTAGEN EXAMPLE EFFECT
2907 nucleotide pairs first appeared in the
genome of the wild fruit fly (Drosophila
Physical
melanogaster) in the mid-20th century.
Chemical Since then, it has spread throughout
Biological
wild populations and increased in copy
number within individual flies. Discuss
2 Define double-strand break. what might account for these changes
3 Explain the difference between a physical in the fruit fly DNA over the last half
and a chemical mutagen. century.
UNDERSTANDING
4 Explain how bacteria of the genus
Agrobacterium causes crown gall disease
in plants.
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Differences between sequences of just one nucelotide are also called single nucleotide
polymorphisms (SNPs, often pronounced as ‘snips’). If the SNP occurs in a gene, the mutated gene
sequence can be transcribed and translated into a protein that is the same as that encoded by the
original form of the gene, or it may be altered. When the protein is altered, the mutation may have a
subtle or a dramatic effect on its structure and function.
A synonymous mutation, also referred to as a silent mutation, occurs when the substituted base
results in a codon (also known as a triplet) that codes for the same amino acid as the original codon.
For example, AGA and AGG both specify the addition of an arginine amino acid in a polypeptide chain
(Figure 4.12). The protein encoded by the mutated gene is therefore identical to that encoded by the
original gene. Synonymous mutations
are possible because there is a level of
redundancy in the genetic code. Recall
that the genetic code consists of 64
codons that code for 20 amino acids
and the instructions to start and stop
translation. Therefore, any individual FIGURE 4.12 Synonymous mutation
amino acid can be encoded by more than
one codon.
A missense mutation arises when
a SNP changes the amino acid. For
example, substitution in an AGA codon
to generate an AGC codon results in
a serine amino acid being added to
the polypeptide instead of the original FIGURE 4.13 Missense mutation
arginine (Figure 4.13).
A nonsense mutation occurs when a
SNP creates a new stop codon within the
original gene sequence (Figure 4.14). This
leads to early termination of translation
of the transcribed gene sequence. As the
remaining sequence downstream of the
new stop codon is not translated, the
result is the production of an incomplete
polypeptide. FIGURE 4.14 Nonsense mutation
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Key concept
Point mutations can cause changes in a DNA sequence by either (i) substitution of a nucleotide
(SNP) or (ii) insertion or deletion of nucleotides (indels). Substitutions can be classified as
synonymous, missense or nonsense mutations. Insertion and deletion mutations are classified
as frameshift mutations.
Neutral mutations
In the case of synonymous mutations, the protein product is unchanged compared with the original,
so the organism’s survival is unaffected by the change. This is said to be a neutral mutation. Missense
substitutions are sometimes also neutral mutations, provided that the original amino acid is swapped
with another that has similar properties. For example, in the ABCA1 gene, which codes for a protein
involved in cholesterol transport, a missense substitution in a single GAA codon creates a GAC codon
and causes one amino acid (glutamic acid), to be swapped for another (aspartic acid). Both amino
acids are negatively charged, however, and reside on the surface of the protein, where they interact
with the surrounding water, so the properties and function of the protein remain essentially the same.
Deleterious mutations
A living organism can be compared with a complex product of engineering, such as an aeroplane, in
which the components are so intricately integrated that an indiscriminate change to any component
can harm the overall operation of the aircraft and make it unfit to fly. Similarly, random mutations may
disrupt the function of the encoded protein, undermining the organism’s overall ability to carry out its
basic processes and survive. Such mutations are referred to as deleterious mutations. The majority of
mutations are deleterious.
Nonsense mutations are typically deleterious, because they result in the production of an
incomplete protein that is non-functional. However, these deleterious mutations may persist if the
individual who carries them also has a copy of the normal allele that encodes the functional version
of the protein. The deleterious mutation is thus masked within the phenotype of the organism. If
the organism is unfortunate enough to have only non-functional alleles for a particular gene, the
condition usually results in the death of the organism before it has the opportunity to reproduce and
pass the alleles on to any offspring.
Beneficial mutations
Occasionally, gene mutations produce a new allele that benefits the survival of the organism. The
type of beneficial mutation can vary: it could be a missense mutation that changes the function of
the original protein, or it could be a nonsense mutation that eliminates a protein that may have been
harmful to the organism in some circumstances.
The human immunodeficiency virus (HIV) causes acquired immunodeficiency syndrome (AIDS).
Without treatment, AIDS is fatal in essentially all cases. A few individuals have been exposed to the
virus but have proved to be resistant to infection. These individuals have a nonsense mutation that
results in the elimination of one of the surface proteins required by HIV to enter cells. This deletion
confers resistance to HIV infection.
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Key concept
Mutations can be categorised as neutral, beneficial or deleterious, depending on the effect they
have on the survival of the individual.
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CHAPTER 4 | Variation and mutation 101
3 Describe the effect of the following enzyme that detoxifies the antibiotic
mutations on a coded protein: ampicillin.
a synonymous mutation c A nonsense mutation in the human
b missense mutation SURF1 gene encodes a protein crucial
c nonsense mutation for formation of a key metabolic
d frameshift mutation. enzyme.
UNDERSTANDING d A synonymous mutation in the codon
for an amino acid occurs at the active
4 Classify the following mutations as site of bovine salivary amylase.
neutral, deleterious or beneficial to an e Various mutations in a gene for the
organism’s chances of survival. enzyme alcohol dehydrogenase result
a An indel in the human in different versions of the functional
hexosaminidase A gene results in enzyme.
improper neural development. f A mutation that extends expression of
b A mutation in the beta-lactamase a human lactase gene enables lactose
gene of the bacterium Escherichia digestion to continue into adulthood.
coli generates a new version of the
Chromosome mutations
Genetic variations can also occur because of wholesale changes to the chromosomes. Alterations to
chromosomes differ from single point mutations because they can affect many genes simultaneously.
Some of the variations that occur with chromosomes, such as chromosome number, are quite natural
in certain situations and are therefore integral to the functioning and continuity of the species. Others
arise because of anomalies that occur during the formation of the gametes.
Chromosome alterations can be observed and analysed by examination of a prepared microscope
slide of stained cells photographed in the process of nuclear division. This reveals a jumbled cluster of
chromosomes that differ in size, shape and banding. Photographic images of chromosomes can be
rearranged into matched and ordered pairs to create a karyotype, the standard format used to display
and analyse chromosomes (Figure 2.3, page 28). Chromosomes are ordered by length, from largest to
smallest, and they have characteristic banding patterns. Species are characterised by having a particular
number of chromosomes in each cell.
state.
Gametes
Monoploidy n+1 n+1 n–1 n–1 n+1 n–1 n n
In many colonial insects such as ants, Number of chromosomes
bees and wasps, the males of the species Non-disjunction of homologous Non-disjunction of sister
chromosomes in meiosis I chromatids in meiosis II
are monoploid (1n) (Figure 4.18). By
contrast, the females, including the FIGURE 4.17 Chromosome non-disjunction and its effects on
queen, are diploid. The males do not gametes
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rerheL/moc.kcotsrettuhS
event that will activate them. In these
insects, the queen produces eggs by
meiosis, whereas the males produce
sperm by mitosis. Fertilisation results in
diploid female offspring. The males are
FIGURE 4.18 Bees maintain their colony structure with diploid
instead produced by parthenogenesis,
females and monoploid males.
a process in which an entire organism
is regenerated from a single egg cell,
without the need for fertilisation.
Many fungi and algae are also monoploid, and there are examples of monoploid fish, amphibians
and reptiles. Monoploidy seems economical because only one set of chromosomes is required, so
why are diploid organisms so much more common? The advantage for diploid organisms is that
any defective alleles that arise can be compensated for by a functional allele on the corresponding
chromosome. In monoploid organisms, a defective allele is the only allele available for a particular
gene, and the consequences are likely to be deleterious.
Polyploidy
Sometimes the cell divisions that give rise to haploid gametes fail altogether, so that half the gametes
contain two copies of each chromosome (diploid, 2n) and the rest have none. If a diploid gamete
fuses with a normal haploid gamete, the resulting individual is triploid (3 n): it has three of each
type of chromosome. If two diploid gametes fuse, a tetraploid (4 n) individual will be produced. It is
therefore possible for an organism to acquire one or more complete extra sets of chromosomes, a
phenomenon called polyploidy.
Polyploidy is particularly common in
flowering plants, ferns and green algae;
approximately half of all flowering plant
species are polyploid. Polyploidy also
occurs in fungi and in some fish and
amphibian species. There are advantageous
commercial applications of polyploidy in
gnroH uaM/moc.kcotsrettuhS
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Aneuploidy
Aneuploidy is the condition in which there is an addition or loss of one chromosome (or a few
chromosomes) from a cell (i.e. 2n + 1 or 2n – 1). Tasmanian devil populations have suffered from a Tasmanian devils and
facial cancer that is infectious. The Tasmanian devil facial tumour cells have been karyotyped and aneuploidy
Read about aneuploidy
compared with a normal devil’s karyotype. Significant aneuploidy (one or more extra or missing in Tasmanian devils.
chromosomes) was evident. Reproductive failure by miscarriage is common, and it has been found
that many miscarried embryos are aneuploids. To understand how this comes about, consider the
process of meiosis. Normally in meiosis, identical chromosomes come together and then segregate
into separate cells, so that the gametes finish up with only one of each pair of chromosomes.
Occasionally, however, the two identical chromosomes do not separate, but go into the same cell.
This phenomenon is known as non-disjunction. Generally, non-disjunction only takes place with one
pair of homologous chromosomes, while the rest behave normally. It can occur during either the first
or second meiotic division. Non-disjunction results in the formation of two types of gametes in equal
proportions, but one type has two copies of a particular chromosome and the other type has none
(Figure 4.20).
Parent cell
Meiosis I
Homologous
chromosomes
fail to segregate
Meiosis II
Gametes Gametes
FIGURE 4.20 In non-disjunction, the chromosomes fail to segregate, so half the gametes contain two
chromosomes of a pair (bivalent) each, and the other half contain no chromosomes at all.
The fusion of a gamete containing both homologous chromosomes with a normal gamete
containing one of the chromosomes produces a zygote with three such chromosomes; the
normal pair plus an extra one. This condition is called trisomy. Fusion of a gamete with none of the
homologous chromosomes with a normal gamete gives rise to an individual with only one of this
particular type of chromosome in each cell. This condition is called monosomy.
Non-disjunction can cause various chromosome abnormalities in humans. For example, Turner
syndrome is an example of monosomy in the sex chromosomes. Foetuses with 22 normal pairs of
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autosomes and a single Y chromosome never survive to birth. However, children may be born with 22
normal pairs of autosomes and a single X chromosome. Such individuals have the genetic constitution
X0. They are females and occur with an incidence of approximately 4 in 10 000 live-born girls. Most of
the phenotypic effects of Turner syndrome are minor, but the person is infertile. Individuals are usually
shorter than normal and have a characteristic webbed neck. Oestrogen replacement therapy can allow
normal pubertal development, and growth can be stimulated with growth hormone.
Approximately two in every thousand men have a trisomy in sex chromsomes (XXY), which is
known as Klinefelter syndrome. This may result either from the fusion of a Y sperm with an XX egg or
from the fusion of an XY sperm with an X egg. Although XXY individuals are phenotypically men, they
have very small genitals and are infertile. In addition, they may develop breasts, although testosterone
therapy at puberty can reduce this effect.
Down syndrome is a trisomy caused by the presence of an extra copy (i.e. a total of three copies)
of chromosome 21 (one of the smallest chromosomes) in every cell. Children with Down syndrome
vary in their symptoms, but most show moderately to severely delayed development, characteristic
almond-shaped eyes, a round face, shortened body parts, loose joints, and weak muscles and
muscle reflexes. About 40% of children with Down syndrome develop heart defects, and they are
more susceptible to infections, both of which can cause their lives to be shorter. They are usually
affectionate, cheerful people, often deriving great pleasure from music and dancing. Down syndrome
is an example of autosomal trisomy, because a non-sex chromosome is added (Figure 4.21). It is the
most common autosomal trisomy in humans.
FIGURE 4.21 False-colour karyotype from a female with Down syndrome. The syndrome is the result of there
being three copies of chromosome number 21. This condition is also known as trisomy 21.
Key concept
Chromosome mutations relate to entire chromosomes. Mutations that change the number of
chromosomes lead to polyploidy and aneuploidy.
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CHAPTER 4 | Variation and mutation 105
a Deletion b Inversion
A A A
A A
B B B
B A B Middle
C C C
C B C piece of
Break Break
D C D F chromosome
D
E G E E falls out,
E
F H F F D rotates
Break Break
G G I G G through 180°
H H H G and then
H H
I I I I rejoins.
I
D
E Middle piece
F of chromosome
falls out.
c Translocation d Duplication
A A
B B A
C A A B
Break C
D B B C
C D
E C A piece of D
E
F chromosome F E
1 breaks off G F
Chromosome 1 and joins H G
D H
D chromosome 2. I
E I
E Chromosomes
F
F 1 and 2 are not
homologous. F An extra length
W
G of chromosome is
X W H added on.
Y X I
Z Y
Z
Chromosome 2
FIGURE 4.22 Abnormalities caused by chromosomal mutations may arise by a deletion, b inversion, c translocation or d duplication.
Deletions
A chromosome may undergo double-strand breaks at two positions, and the section in between
may drop out, removing all its genes with it. If the two ends then re-join, a shorter chromosome
results with a segment missing. This is called a chromosome deletion (Figure 4.22a). As it leads to
an absence of certain genes, it can have a profound effect on the development of an organism. All
but the shortest deletions are usually fatal, and the few organisms that survive usually suffer from
adverse effects.
Williams syndrome is an example of a condition that arises because of a deletion event that
affects about 1 in 10 000 people. Patients are characterised by certain physical (Figure 4.23)
and temperamental features, including an unusually cheerful and affectionate disposition, and
an exaggerated predilection for music and dance. The syndrome is associated with an unusual
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Inversions
Another kind of chromosomal rearrangement
occurs if a chromosome breaks in two
places and the segment in the middle rotates
through 180° before being re-joined within
the chromosome, reversing the normal FIGURE 4.23 A person with Williams syndrome is
sequence of genes (Figure 4.22b). This is characterised by a facial appearance with a low nasal
called an inversion. The effects of inversions ridge.
are usually less dramatic than other types of
chromosomal changes, because genes have been neither gained nor lost, and the genes within the
inverted segment can still function normally. The inversion may, however, disrupt a gene in which it
occurs or cause two different genes to become fused together. Also, if the chromosomes do not align
properly for meiosis, the affected individual may have reduced fertility.
Translocations
Sometimes a section of one chromosome breaks off and reattaches to another chromosome. This is
known as a translocation (Figure 4.22c). An example of a translocation in humans is when a segment
The devil is in the of chromosome 8 ends up within chromosome 14, or vice versa. Normal control over the genes in
details that segment is lost, often resulting in a form of cancer. In addition to aneuploidy, a Tasmanian devil
Read about Tasmanian facial tumour cell karyotype shows translocation of chromosome 5.
devil facial tumour and
translocation Duplications
A duplication occurs when an extra copy is made of a section of a chromosome and inserted either
into the same chromosome or into another chromosome (Figure 4.22d). Gene sequences can be
replicated several times, sometimes thousands of times. Like other chromosomal abnormalities
that change the number of copies of particular genes, duplications of chromosomes are frequently
harmful. However, on occasions they may be advantageous. The various genes that control
the different haemoglobins produced in human red blood cells are thought to have arisen by
duplications. Changes to chromosome structure such as inversion, deletion, translocation and
duplication of chromosome segments are another cause of genetic variation.
Key concept
Structural mutations to chromosomes include deletions, inversions, translocations,
duplications and frameshift mutations.
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TABLE 4.3 Major classes of mutations, their types and their effects on DNA
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Crossing over
Crossing over is the swapping of alleles that occurs in meiosis during prophase I only. During the
formation of egg and sperm cells in meiosis, paired maternal and paternal homologous chromosomes
align so that corresponding DNA sequences from the paired chromosomes are able to cross over one
another.
Crossing over is important for genetic Non-sister chromatids
Prophase I held together during
variation, because it allows the exchange of of meiosis synapsis
alleles between the maternal and paternal Pair of
homologous chromosomes (non-sister homologs
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During anaphase I, the randomly lined up maternal and paternal homologous chromosomes
move to opposite poles of the cell. This random separation of a pair of homologous chromosomes
is described as the Law of Random Segregation. Each gamete ends up with a random selection of
Independent
maternal and paternal chromosomes. The chromosomes have segregated (separated) randomly into assortment
the four gametes (Figure 4.25). Study independent
assortment by watching
Possibility 1 Possibility 2 the animation.
A A a a A A a a
Metaphase II
B B b b b b B B
A A a a A A a a
Gametes
B B b b b b B B
FIGURE 4.25 Independent assortment and random assortment lead to different combinations of chromosomes
in gametes.
Random fertilisation
Fertilisation is the union of haploid male and female gametes during sexual reproduction to produce a
diploid zygote. The random union of gametes is known as random fertilisation. Random fertilisation
can lead to variation. Fertilisation brings together chromosomes from two different parents, creating
new combinations of alleles in the offspring. When a female gamete is made during meiosis, it receives
50% of the mother’s genetic information. The same is true for a male gamete. Due to independent
assortment and random distribution of the chromosomes when the cells split during meiosis, each
gamete has a different combination of chromosomes from that of other gametes. Therefore, each
gamete has a unique set of alleles. Fertilisation promotes variation because a male gamete can fertilise
any of the female gametes, resulting in a unique combination of the maternal and paternal genes. An
additional source of variation in the possible gamete combinations is the random selection of a mate.
The offspring produced in sexual reproduction are genetically different to one another and to their
parents. Sexual reproduction results in variation within a population because it involves the mixing of
genetic information.
Fertilisation can occur internally (as in humans) or externally (as in the majority of corals).
Gametes contain recombinations of genetic material, and the different gamete combinations possible
during fertilisation increases variation.
Key concept
Sexual reproduction contributes to variation. Crossing over and independent assortment occur
during meiosis to produce variety in gametes, and a random selection of these gametes will be
randomly fertilised. The result of fertilisation is an individual with a different genotype to that
of its parents.
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a b Stigma Anther c
Filament Stamen
Style
ECNEICS FO EYE/yrarbiL otohP ecneicS
Pistil
owdA/moc.kcotsrettuhS
Ovary
Ovule Sepal Petal
Receptacle
FIGURE 4.26 Fusion of male and female gametes occurs in sexually reproducing species. a A coloured scanning electron micrograph
of a human sperm and egg. b Pollen contains the male gametes of a flowering plant and is found on the stamen, or male structure, of
a flowering plant. Ovules contain the female gametes of a plant and are found in the pistil, or female structure, of the plant. The pollen
travels to the stigma (i.e. ‘pollination’ occurs), then fertilisation takes place in the ovule. Variation is enhanced in plants if the flower does
not self-pollinate. c Coral at Ningaloo Reef, WA, sexually reproduce 7–10 days after the full moon in March. The coral polyps spawn – that
is, they release eggs and sperm into the water – at the same time. The eggs and sperm randomly fertilise to form larvae known as planulae.
molecular, genetic and computational techniques to study the epigenome, including next-
generation sequencing technologies to generate whole-genome high-resolution maps of
the epigenome and associated molecular processes. Professor Ryan Lister hopes to develop
molecular tools for editing the epigenome.
Questions
1 What is an epigenome?
2 What is DNA methylation and why is it important?
3 ‘Research aims to elucidate the mechanistic underpinnings of how the epigenome is
established and dynamically modified, and how it affects the cellular readout of the
underlying genetic information, and to develop molecular tools for editing the epigenome.’
What does this mean in terms of treatment of genetic diseases?
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CHAPTER 4 INVESTIGATION
Developed by Southern Biological
NOITAGITSEVNI
Background
We classify the broad spectrum of electromagnetic radiation from the sun into segments according
to the effects we experience. For example, the warm sensation of sunshine on our skin is caused by
invisible infrared radiation with wavelengths ranging from 700 nm to 1 000 000 nm (1 mm). Visible
light is comprised of wavelengths of between 400 nm (violet) and 700 nm (red). Radiation with a
wavelength shorter than 400 nm but longer than 10 nm is classified as ultraviolet (UV) radiation.
Radiation with a wavelength shorter than 10 nm is classified as X-rays.
Some exposure to UV radiation is necessary for humans to produce vitamin D, but a careful
balance is required, because X-rays and UV radiation are destructive of many biological molecules,
including DNA. Fortunately, Earth’s atmosphere acts as a protective screen and filters out almost all
the sun’s radiation that has wavelengths shorter than 290 nm. Nevertheless, the narrow UV band
from 290 nm to 400 nm that can penetrate the atmosphere and reach Earth’s surface is capable of
causing photochemical damage to DNA that can lead to skin cancer, so it is important to avoid over-
exposure. As a defence against UV exposure, most organisms that are subject to the sun’s rays have
evolved to incorporate some level of DNA repair in their cellular mechanisms. This confers a limited
amount of inherent UV resistance.
Aim
To determine how UV radiation can be destructive of many biological molecules.
Time requirement
55 minutes
Materials
• UV-sensitive yeast starter plate • 2 sterile culture tubes
• Wild-type yeast starter plate • Ethanol or bleach
• 8 sterile swabs • Bunsen burner
• 8 YED agar plates • Adhesive tape
• 4 plastic pipettes • Permanent marker
• Sterile water • PPE: lab coats, safety glasses, disposable
• 2 sterlie inoculation loops gloves
Risks
WHAT ARE THE RISKS IN THIS INVESTIGATION? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
While lab strains are usually harmless, fungi may cause Wear lab coats, safety glasses and gloves; wash hands
disease, so assume them to be pathogenic. thoroughly at end of activity.
Decontaminate benches before and after activity. Flood
spills with bleach.
Micro-organisms will grow on the agar plates. Do not open plates once they are securely taped.
Dispose of plates appropriately after autoclaving.
Disposable gloves may pose an allergy risk. Use a type of glove that has no allergy risk and is suitable
to the chemicals being used.
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Key
UV = UV-sensitive yeast (mutated strain)
WT = Wild-type yeast
Number = Time plate will be exposed to sunlight
2 Use a plastic pipette to place 1 mL of sterile water into a sterile culture tube.
3 Use a sterile inoculation loop to carefully scrape a single colony of the UV-sensitive yeast from the
starter plate.
4 Select a large colony (>4 mm in diameter), or if the colonies are small, scrape up two (or even
three) onto the loop.
5 Place the loop in to the sterile tube and spin/swirl it to transfer the yeast into the sterile water.
6 Visually check that the cell mass has transferred from the loop into the water.
7 Immediately, use a 1 mL plastic pipette to pump the liquid to distribute and suspend the yeast
cells in the water. Avoid introducing air bubbles or splashing the liquid up the sides of the tube.
When you have finished, hold the tube up to the light to check that there are no visible lumps or
particles in the water.
8 Dip a sterile swab into the yeast suspension and, as you withdraw it, press it against the sides of
the tube to squeeze out excess water. It should come out moist but not dripping.
9 Using an aseptic technique, swab the surface of a YED agar plate in three directions to inoculate
for a lawn culture.
10 Immediately cover the plate to shield it from light, and allow it to rest (right-way up) for a period
of at least 15 minutes and up to 1 hour. This allows the moisture from the swab to be absorbed by
the agar.
11 Repeat steps 8–10 for the remaining three UV-sensitive yeast plates. Then repeat this procedure
for the four plates using the wild-type yeast.
Procedure – exposure to sunlight
1 State your hypothesis for this experiment.
2 After the post-inoculation resting period, expose one inoculated plate from each strain to direct
sunlight for 5, 10, 15 and 20 minutes, respectively.
3 Immediately after exposure, incubate the plates in darkness for 48 hours at 30°C or 4 days at
room temperature.
4 For best results, follow these guidelines:
• Keep the plate shielded from light until the last moment.
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• Use adhesive tape to attach the lid of the petri dish to the base, but do not allow the tape to
extend onto the surface of the lid where it would absorb UV light and shield the yeast from
exposure.
• Orientate the plate so the lid is pointing directly at the sun. Aim to minimise the size of the
shadow. If the angle between the sun’s rays and the lid is small, most of the UV light will be
reflected and the effectiveness of the exposure will be reduced.
• Schedule the investigation at a time of year when you can be sure of bright, sunny conditions.
• After the incubation period, observe and compare the level of coverage between the plates.
Results
Copy and complete the table below with the results of your experiment. Use the key below to indicate
the level of coverage of the yeast on each agar plate.
Key
+++ High coverage
++ Medium coverage
+ Low coverage
– No coverage
1 Compare the results of your UV-sensitive yeast sample with those of the wild-type yeast sample.
What differences do you observe?
2 What conclusions can you draw from this data?
3 Draw a graph of your results.
Discussion
1 What is your independent variable?
2 What is the range of your independent variable?
3 What is your dependent variable?
4 What are your control variables and how did you control them?
5 What type of mutation does the UV-sensitive yeast display?
6 Compare your results with those of others in your class. Were the results consistent?
7 Did your experiment support or refute your hypothesis, or were your results inconclusive?
8 Based on your findings, how does UV light impact the two different yeast strains? Do they differ?
Explain why, if they do.
Taking it further
To protect our skin from harmful UV rays, we apply different sunscreens with different sun protection
factor (SPF) values. Do these values have any merit, and are commercially produced screens any better
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WS
CHAPTER 4 SUMMARY
Chapter 4 • Phenotype is affected by the genotype of the • Mutations can be classified as point
Activity sheet
individual and the environment in which (including single nucleotide polymorphism,
the individual lives. Variation in DNA, SNP) or chromosome (large-scale change)
genes and chromosomes causes variation mutations.
between individuals and species. • Point mutations include substitutions
• Environmental factors include internal (e.g. (synonymous, missense, nonsense)
hormones), external (e.g. temperature) and and additions or deletions (frameshift
epigenetic factors that affect gene expression mutations) and can be neutral, harmful or
without changing the DNA sequence. beneficial to the survival of the organism.
• Mutations are permanent changes to a DNA • Chromosome mutations include variations
sequence. Mutations can occur in somatic in the number of chromosomes (polyploidy
cells where they are not passed on to the and aneuploidy) and variations in the
next generation) and in germline cells structure of chromosomes (deletions,
(through which they can be passed on to the inversions, translocations, duplications and
next generation). frameshift mutations).
• Mutations can be caused by errors during • Sexual reproduction produces variation
DNA replication (spontaneous mutations); in offspring through crossing over of
errors during cell division (crossing over); homologous chromosomes, independent
or the action of physical, chemical or assortment and random segregation, and the
biological mutagens. fertilisation of random gametes.
CHAPTER 4 GLOSSARY
Allele One of various versions of the same Cloning vector In cloning, the vector is the
gene (at the same locus) distinguished by DNA molecule that is used to carry the cloned
small differences in the DNA sequence piece of DNA
Aneuploidy Describes a genome that Codon A set of three consecutive nucleotides
varies from the conventional genome found in a DNA or an mRNA molecule; it carries
through the loss or addition of one or a few a code for a specific amino acid
chromosomes Crossing over An event during meiosis, in
Apoptosis A programmed series of events that which homologous chromosomes (non-sister
leads to cell death as a result of the dismantling chromatids) exchange alleles (genetic segments)
of the internal contents of the cell by various with one another
enzymes, including caspases Deleterious mutation A mutation that
Behaviour Responses and reactions of an decreases an organism’s chances of survival
organism in particular situations and reproduction
Beneficial mutation A mutation that increases Deletion mutation A mutation in which one
an organism’s chances of survival and or more nucleotide pairs have been lost from a
reproduction segment of DNA
Chiasma The point of contact between Diploid (2n) Describes a cell or organism that
two (non-sister) chromatids belonging to a has a genome that contains two copies of each
set of maternal and paternal homologous chromosome, represented by 2n
chromosomes where crossing over may Double-strand break A mutation involving
occur breaks in the sugar–phosphate backbones of both
Chromatin The complex of proteins and DNA DNA strands at the same nucleotide pair, resulting
found in eukaryotic non-dividing cells in the complete breakage of a chromosome
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Fertilisation The union of haploid male and Insertion mutation A mutation in which one
female gametes during sexual reproduction to or more nucleotide pairs have been added to a
produce a diploid zygote; the random union of segment of DNA
gametes is known as random fertilisation Intraspecific variation Differences between
Frameshift mutation A mutation that changes individuals of the same species
the reading frame used in translation, during Karyotype A display that presents the number
polypeptide synthesis and appearance of the chromosomes of an
Gamete A sex cell; it can be a male or organism or cell as observed at metaphase
female sex cell and has a haploid number of
Meiosis A type of cellular division in sexually
chromosomes reproducing organisms that involves two rounds
Gene A unit of heredity that transmits of cell division, but only one round of DNA
information from one generation to the next; a replication; during meiosis, the chromosome
segment of DNA that codes for a polypeptide number of a cell is halved
Genetic code The term used for the way that Missense mutation A gene mutation that
the four nitrogenous bases of DNA (adenine, results in one amino acid being replaced by
thymine, guanine and cytosine) are ordered and another amino acid in the encoded protein
contain information to direct the creation of
Monoploid (1n) Describes a cell or organism
specific proteins
that has a functional genome consisting of one
Genome All of the genetic material contained copy of each chromosome, represented by 1n
in an organism or a cell; it includes the
Monosomy The condition in which somatic
chromosomes within the nucleus and the DNA
cells of an organism are missing one copy of a
in mitochondria and chloroplasts
particular chromosome
Genotype The specific combination of alleles
for each gene locus that belongs to an individual Mutagen An agent capable of inducing
mutations
or cell
Mutant A cell or organism that bears a mutation
Germline cell The cell line in eukaryotic
organisms from which the gametes are derived Mutation A permanent change in the DNA
sequence of a gene; a source of new alleles
Haploid (n) Describes a cell or organism that
has a genome that contains one copy of each in a population’s gene pool; the process of
chromosome; represented by n generating a mutation
Heredity The study of inheritance; the genetic Mutation rate The number of changes per gene
transmission of characteristics from one copy in a population over a period of time
generation to another Neutral mutation A mutation that has no
Homologous chromosome A pair of effect on an organism’s chances of survival and
chromosomes that have the same size and reproduction
shape; they have genes at the same locations; Non-disjunction The failure of sister
one is maternal and one is paternal chromatids in mitosis or homologous
Horizontal gene transfer The process by which chromosomes in meiosis to separate and go to
genetic material from one organism becomes opposite poles
incorporated into the genome of another Nonsense mutation A mutation in which a
organism codon for an amino acid is changed to one
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that codes for a stop codon, terminating lined-up maternal and paternal homologous
translation chromosomes move to opposite poles of the cell,
illustrating the Law of Random Segregation;
Parthenogenesis The production of offspring,
usually from a female gamete without the each gamete ends up with a random selection of
requirement for fertilisation maternal and paternal chromosomes
Phenotype The actual observable form taken Silent mutation See synonymous mutation
by a specific feature in a particular individual, Single nucleotide polymorphism (SNP)
based on their genotype and influenced by A single nucleotide difference that occurs at a
the environment; it can be used in reference given position in the genomes of two or more
to particular traits or characteristics or to the individuals
overall form of an individual Somatic cell A body cell that is not a germ cell
Plasmid A small circular piece of DNA Species A group of similar organisms capable
(found in bacteria) that is able to replicate of breeding and exchanging genes with one
independently of the cell’s chromosomes; another and whose offspring are capable of
engineered plasmids can carry antibiotic- doing the same
resistance markers Spontaneous mutation A mutation occurring
Point mutation A mutation that affects a single in the absence of exposure to mutagens
base-pair within a gene Substitution mutation A mutation in which a
Polyploidy A cell or organism with a genome single nucleotide is swapped for another in the
comprising three or more copies of each original gene sequence
chromosome, represented by 3n, 4n, 5n, 6n etc. Synonymous mutation A mutation in which
Random fertilisation The union of a male the DNA codon for one amino acid becomes
gamete and a female gamete, both haploid, another DNA codon for the same amino acid;
which results in a diploid cell called a zygote; it also referred to as a ‘silent’ mutation
is random because there is no way of knowing Trisomy A condition in which somatic cells
which two gametes, each genetically unique, contain three copies of a particular chromosome
will form the zygote Variation The diversity of genetic and
Random segregation The phenomenon that phenotypic traits within and between
starts during anaphase I, when the randomly populations
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Understanding
2 Figure 4.28 is a representation of segments of chromosomes with genes numbered along their
lengths. Identify the mutation that has occurred in each of these structural rearrangements from
the original for each of a to d.
Original a b c d
1 1 1 1 1
2 2 2 2 2
3 3 3 3 7
8
2
6 6
4
3
3
5
5
4
4
4
6
5
5
6
6
Applying
4 Identical twins, like the French bulldog puppies in Figure 4.29, usually have the same genotype.
yrarbiL erutciP erutaN/otohP kcotS ymalA
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5 What might account for the fact that most forms of aneuploidy are rarely, if ever, observed in
humans?
6 A transposable element consisting of precisely 270 nucleotide pairs lands in the intron of a
functional gene without affecting the splicing sites for the transcribed RNA.
a What kind of genetic mutation does this represent?
b Describe the effect of the extra nucleotides on the protein sequence.
c Would this be likely to be a neutral, beneficial or deleterious mutation?
7 Compare the four human karyotypes i to iv in Figure 4.30.
a Determine which of the four is a normal karyotype and identify the sex of the individual.
b Determine the aberration in each of the other three karyotypes.
c Explain how the three aberrations could have come about.
i
ii
latipsoH sekoorbneddA ,scitenegotyC lacinilC fo tpeD/yrarbiL otohP ecneicS
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iii
8 Copy and complete Table 4.5 using the information provided in Table 4.6. Note that more than
one type of mutation may have the same effect on the protein.
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TABLE 4.6 Properties, names and DNA codons for each of the 20 amino acids
Tryptophan TGG
Analysing
9 List all the codons that could result from a synonymous mutation of GGG. What observation
can you make about which of the three nucleotides in the codon is most prone to being
mutated?
10 An exceptionally large plant with enlarged fruit grows among a natural population. Discuss
what genetic change might have occurred in this individual and describe how you could test it
to find out.
11 ‘X-ray imaging of a newborn child and a fully grown adult are equally risky.’ Consider whether
you agree or disagree with the statement and explain your reasoning.
Evaluating
12 Polycyclic aromatic hydrocarbons are a diverse collection of compounds produced by
combustion, occurring, for example, in cigarette smoke. With reference to effects, mutations,
mutation rates and level of exposure, provide an explanation for the statistical link between
cigarette smoking and the increased incidence of lung cancer.
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13 Imagine a situation in which a child of dark-skinned parents has inherited a mutated form
of a gene that confers light skin pigmentation. Predict whether this mutation would be
neutral, beneficial or deleterious if the individual is located in the Arctic Circle, rather than
in equatorial Africa, and explain your reasoning. Discuss how, if at all, your interpretation of
‘neutral’, ‘beneficial’ and ‘deleterious’ is influenced by the individual’s environment.
Creating
14 Design a poster to show how an addition mutation can lead to a frameshift.
15 Construct a concept map to summarise the factors and processes involved in each of the three
main mechanisms of variation.
Reflecting
16 What are some of the potential mutagens you encounter in your daily life, and how might you
reduce your exposure to some of them?
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4 The mean value of the diversity index in the 8 Describe the effect that UV light has on
five platypus populations is: DNA structure. (4 marks)
A 0.346 [Q35d 2019 SCSA]
B 0.417
9 Explain why mutation is the ultimate
C 0.236
source of genetic variation. (4 marks)
D 0.504.
[Q35e 2019 SCSA]
[Q22 2016 SCSA]
10 A study has shown that barn swallows
5 On the basis of the information in the
living in an area contaminated by
table, which of the following platypus
nuclear radiation have a higher
populations is at the greatest risk of
incidence of abnormalities compared with
extinction due to genetic factors?
those in uncontaminated areas. Provide
A Kangaroo Island (wild)
a plausible explanation for the higher
B Kangaroo Island (sanctuary)
incidence of abnormalities in the barn
C Northwestern Tasmania
swallows that live in the contaminated
D King Island
area. (4 marks)
[Q23 2016 SCSA]
[Q31e 2017 SCSA}
6 Explain the role of fertilisation in sexual
11 Describe the process of meiosis and
reproduction. (4 marks)
explain how this process produces genetic
[Q35b 2019 SCSA]
variation. (10 marks)
7 Outline how crossing over creates genotypic [Q36b 2016 SCSA]
variation. (2 marks)
[Q35c(i) 2019 SCSA]
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5
GENETICS CHAPTER 5 CONTENT
By the end of this chapter, you will have covered the
following material.
STARTER QUESTIONS
1 How did Mendel work out the inheritance of dominant
and recessive traits without knowledge of genes and their
different forms?
2 How are critical thinking skills applied in genetics?
3 Can you predict the mode of inheritance of a disease by
examining a pedigree and using a systematic method?
SCIENCE UNDERSTANDING
» frequencies of genotypes and phenotypes of offspring are
determined by patterns of inheritance, including dominance,
autosomal and sex-linked alleles, multiple alleles and
polygenes
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a b
Widow's peak
oiduts EMOHYAW/moc.kcotsrettuhS
aidemkaerbevaw/moc.kcotsrettuhS
To study patterns of inheritance, we will turn back the clock to examine the innovative
experiments and observations of the Austrian monk, Gregor Mendel. Inheritance is the passing of
traits from parents to offspring. Sexually reproducing organisms have two copies of almost every
gene, one copy from the female parent and one copy
from the male parent. The way genes are inherited can
be studied, because there are patterns that emerge.
Although offspring receive a combination of genetic
material from two parents, certain genes will dominate
in the expression of some traits. During this chapter on
genetics, the principles of heredity and inherited variation
will be investigated.
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Seed shape
Round Wrinkled
Flower colour
Axial Terminal
Purple White
Pod shape
Pod colour
FIGURE 5.3 The pairs of characteristics of pea plants that Mendel studied
Genetics vocabulary
Paternal Maternal
Allele chromosome chromosome
Dominant allele
• A dominant allele is always expressed in the phenontype.
• A dominant allele will mask a recessive allele.
• A dominant allele has the same effect on the phenotype whether it is paired with another
dominant allele or a recessive one.
• A capital letter represents a dominant allele. W w
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Pure breed
• A pair of alleles in a pure breed are identical (it is homozygous).
• The set of alleles in a pure breed are either both dominant or both recessive for a specific trait.
• A pure breed for widow’s peak can be either WW for widow’s peak or ww for straight hairline.
• Pure breeds are used when studying inheritance and can be identified by a test cross.
Homozygous
• Homozygous means possessing two Homologous chromosome pair Homologous chromosome pair
that is homozygous for all alleles that is heterozygous for all alleles
identical alleles of a gene.
• AA is a homozygous dominant A A A a
B B b B
genotype.
• aa is a homozygous recessive C C c C
genotype.
D D
D d
Heterozygous
• Heterozygous means possessing two E E e E
different alleles of a gene.
• Aa is a heterozygous genotype. FIGURE 5.6 Homozygous and heterozygous alleles
Autosomal trait
• An autosomal trait is inherited on an autosome – a X X X Y
chromosome that is not a sex chromosome.
• A gene on an autosome is called autosomal.
Sex-linked trait
• A sex-linked trait is inherited on a sex chromosome (X or Y). A
gene on a sex chromosome is called sex-linked.
• Note: the Y chromosome is short and contains relatively
few genes. Most of them code for sex-related traits. X
female male
chromosomes are longer and contain more genes. They carry
genes for sexual development as well as for certain other traits. FIGURE 5.7 Sex chromosomes
Mendel’s experiments
In one of Mendel’s experiments, he took a pure-breeding tall pea plant and crossed it with a
pure-breeding short pea plant. Pure-breeding plants are ones that, when crossed among themselves,
always give rise to offspring that are like the parents. The way Mendel crossed the plants was to take
pollen grains containing sperm cells from the anthers of one plant and dust them onto the stigma of
another plant, having first removed the anthers of this second plant to ensure that it could not
self-pollinate (Figure 5.9). This is referred to as hand pollination.
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CHAPTER 5 | Genetics 127
Mendel’s conclusions
The first striking fact to notice in Mendel’s results is that in the F1 and F2 generations there are no
medium-sized plants; that is, there are no plants that are intermediate between the tall and the short
parents. From this, we conclude that inheritance of this characteristic is not the result of the two
parents’ features blending together in the offspring. Rather, definite factors, which may or may not
show themselves in the outward appearance of the organism, pass from parents to offspring. That
such factors exist is borne out by the observation that, despite its absence in the F1 generation, the
short form reappears in the F2 generation.
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The second conclusion is drawn from the observation that there were no short plants in the
F1 generation, despite the fact that one of the parent plants was short. Short plants reappeared,
however, in the F2 generation. From this we can conclude that, although the F1 plants are tall, they
must receive a factor for shortness from their short parent, which remains ‘hidden’ in the F1 plants and
does not reveal its presence until the F2 generation.
A third conclusion is that the factor for shortness, which fails to show itself in the F1 generation,
must be masked in some way by the factor for tallness. Only in the absence of this factor will the
factor for shortness show itself in the outward appearance of the plant. In other words, the factor for
tallness is dominant over the factor for shortness. Shortness is described as recessive.
Each generation can be predicted if the parent genotypes are known. The predictions of the
offspring genotypes and phenotypes can be represented by Punnett squares.
Key concept
A phenotype describes the observable characteristics of an individual. Mendel was able to study
the principles of genetics through careful observation of the phenotypes of pea plants and
using selective breeding techniques. He found dominant traits masked recessive traits.
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5 After the Punnett square is complete, determine the genotype and phenotype ratios. The ratios
can be displayed as whole numbers, fractions or percentages.
Genotype ratio: 4 Tt OR ⁴/₄ = 1 Tt (simplify fractions) OR 100% Tt
Phenotype ratio: 4 tall OR ⁴/₄ = 1 tall OR 100% tall
The F2 generation can be represented in the same way. Cross
Key: Parent cross = Tt × Tt
Alleles T t
T = tall (dominant allele)
t = short (recessive allele) T TT Tt
t Tt tt Punnett square
calculator
Genotype ratio: 1TT : 2 Tt :1tt OR ¼ TT : ½ Tt : ¼ tt OR 25% TT : 50% Tt : 25% tt
Phenotype ratio: 3 tall : 1 short OR ¾ tall : ¼ short OR 75% tall : 25% short
Always include a genotype and phenotype key and ratios (even when not instructed to).
Key concept
A Punnett square is a visual representation that can be used to study and predict patterns of
genetic inheritance.
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CHAPTER 5 | Genetics 131
FIGURE 5.13 Combinations of alleles on homologous FIGURE 5.14 The segregation of alleles in inheritance corresponds to the
chromosomes segregation of homologous chromosomes in meiosis.
Key concept
Inheritance of alleles of a single autosomal gene can be analysed using a monohybrid cross.
If the P generation is pure-breeding, the proportion of dominant to recessive alleles in the
F2 generation is typically 3:1.
A monohybrid cross involves fusion of gametes from two monohybrids (parents with genotypes
consisting of one dominant and one recessive allele) that differ in only one characteristic. Only one
gene is investigated. Recall that a monohybrid is an organism that is heterozygous with respect to a
single gene. Monohybrids are the offspring from a cross between parents who are both homozygous
but have different alleles from each other. Mendel performed crosses with pure-breeding pea plants,
which produced monohybrids heterozygous for the gene of interest. This was the F1 generation.
When he crossed two organisms of the F1 generation, he was crossing two monohybrids. The
offspring of the monohybrid cross, known as the F2 generation, gave rise to a 3:1 ratio of the
dominant and recessive phenotypes. Mendel’s cross between the offspring of the tall and short
pea plants is an example of a monohybrid cross, using a parental generation with the genotypes
(phenotypes in brackets) of TT (tall) and tt (short), and obtaining an F1 generation of Tt (tall). The
segregation of the alleles into the gametes can be explained in terms of meiosis, as illustrated in
Figure 5.15.
When a monohybrid cross is presented to you in a question, a Punnett square can be used to
predict the genotypes and phenotypes of the offspring, and in some cases to infer the genotypes
and phenotypes of the parents. This technique can help plant or animal breeders develop varieties
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Homozygous Homozygous
dominant parent recessive parent
T t
T t
Chromosomes duplicated
before meiosis
Meiosis I
T T t tt
T T t
T T Meiosis II t t
T T t t
T TT T t t t t
Gametes Gametes
Fertilisation produces
heterozygous offspring
T
t
FIGURE 5.15 The segregation of chromosomes in a monohybrid cross: two homozygous parents with different
phenotypes can only produce heterozygous offspring.
that have desirable traits. To solve genetics problems, you will need to apply your understanding
and use critical thinking. Critical thinking involves reasoning with information to arrive at the best
possible solution. It involves using your knowledge and understanding in a systematic way to solve
problems and provide structured reasoning for your conclusions.
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ALLOCATION
a If the green pea pod plant is heterozygous Key: 1 mark
but still green, then the green allele is Alleles
being expressed and is therefore the G = green pod
dominant allele. The dominant allele is g = yellow pod
represented by a capital letter. Cross
Parent cross = Gg × gg
If the alleles are not defined, you will need
to allocate an appropriate letter after you
deduce which trait is dominant.
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Purple flowers × white All purple 705 purple, 224 3.15:1 3:1
flowers white
Green pods × yellow pods All green 428 green, 152
yellow
Yellow peas × green peas All yellow 6022 yellow, 2001
green
Round peas × wrinkled All round 5474 round, 1850
peas wrinkled
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D. melanogaster has a large number of variants or forms. Most individuals have long wings,
but some have small or ‘vestigial’ wings (Figure 5.16). The long-winged condition (V) is dominant
to vestigial wing (v). Accordingly, if a pure-breeding long-winged fly (VV) is mated with a vestigial-
winged fly (vv), the F1 individuals are all heterozygous at this locus (Vv) and have long wings. If two of
these F1 flies mate with each other, a mixture of long-winged and vestigial-winged flies are produced
in a ratio of approximately 3:1 (Figure 5.17).
a b
FIGURE 5.17 Monohybrid cross showing inheritance of wing length in fruit flies
This is expected for a monohybrid cross. But how can we decide whether a given F2 long-winged
fly is homozygous dominant (VV) or heterozygous (Vv)? The simplest way to solve this problem is
to cross it with a vestigial-winged fly. We know that a vestigial-winged fly must be vv (homozygous
recessive); it cannot be anything else. If the long-winged fly whose genotype we wish to determine is
VV, then crossing it with a vestigial-winged fly will give nothing but long-winged flies. If, however, the
unknown fly has the genotype Vv, then the cross will give a mixture of long- and vestigial-winged flies
in approximately equal numbers. This is summarised in Figure 5.18 (page 136).
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1 1
— —
Gametes All V All v 2 V 2 v All v
F1
1
—
1
— 2 vestigial
2 long wing wing
Vv vv
All long wing
Vv
FIGURE 5.18 A test cross to determine whether a fruit fly is homozygous or heterozygous for long wings
lawgruBJW/moc.kcotSi
for breeding purposes, they could breed the pet
with a guinea pig who was homozygous recessive
white.
When an organism displaying a dominant
phenotype is crossed with an organism that is FIGURE 5.19 A test cross can help determine the
homozygous recessive for the condition, there are genotype of a pet guinea pig.
two possible outcomes. Either 100% or 50% of the
offspring will present the dominant phenotype. Below are the two possible crosses, given the black
phenotype could have arisen from the homozygous or heterozygous set of alleles. Compare the
results.
PUNNETT SQUARE IF THE BLACK GUINEA PIG’S PUNNETT SQUARE IF THE BLACK GUINEA PIG’S
GENOTYPE IS BB GENOTYPE IS Bb
B B B b
b Bb Bb b Bb bb
b Bb Bb b Bb bb
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CHAPTER 5 | Genetics 137
A conclusion about the genotype can be drawn after analysing the offspring phenotype ratios. If
any offspring appear white, a breeder can be certain the unknown genotype was heterozygous (Bb). If
the offspring are all black, the breeder can conclude the unknown genotype is homozygous (BB).
PHENOTYPE GENOTYPE
Blood type A IAIA or IAi
Blood type B IBIB or IBi
Blood type AB IAIB
Blood type O ii
The fact that there are more than two alleles responsible for determining blood group makes no
difference to their transmission, which takes place in a normal Mendelian fashion. Thus, a child whose
parents are both blood group O must be blood group O. Consider the offspring of a man who is
blood group AB and a woman who is heterozygous blood group B. A Punnett square can still be used
to determine the possible genotype and phenotype ratios.
Key:
Alleles
IA = Group A IA IB
IB = Group B
IB IA IB IB IB
i = Group 0
Cross i IA i IB i
Parent cross = I I × I i
A B B
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noitalupop fo egatnecreP
40
blood group. This produces discontinuous variation,
35
because only one set of alleles for one gene determines
30
the phenotype. Discontinuous variation is a set of discrete 25
phenotypic categories controlled by a single gene and its 20
set of alleles. A human is either blood group A or B or AB 15
or O, because these are the discrete categories coded for 10
5
by one set of alleles for one gene. When characteristics
0
are controlled by a single gene, the phenotypes fall into A B AB O
Discrete variation in a population can be represented FIGURE 5.20 Blood groups in a population,
on a bar graph. showing discontinuous variation
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a b
9 : 3 : 3 : 1
Figure 5.23 (page 140) shows how the alleles were transmitted in this dihybrid cross. T represents
the allele for tallness, t for shortness, P for purple flowers and p for white flowers. Mendel always
started his experiments with pure-breeding plants, so the parent plants were homozygous for both
genes. The genotype of the tall plant with the purple flowers was, therefore, TTPP, and that of the
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short plant with white flowers DIHYBRID CROSS: FLOWER COLOUR AND STEM LENGTH
was ttpp. From Mendel’s earlier Key for alleles: TT and Tt = tall; tt = short; PP and Pp = purple; pp = white
work, we know that the gametes Parental generation
white plants. The observed 9:3:3:1 Punnett square Possible gametes (same for both parents)
ratio can be accounted for if all the TP Tp tP tp
possible combinations occur with TP TTPP TTPp TtPP TtPp
equal likelihood.
Tp TTPp TTpp TtPp Ttpp
The basic structure of a dihybrid
tP TtPP TtPp ttPP ttPp
cross Punnett square is a 4 × 4 grid
for possible offspring, with the four tp TtPp Ttpp ttPp ttpp
cross. 4 × TtPp
1 × TTpp
Key concept
3 tall, white flowers
2 × Ttpp
Segregation Segregation
Gametes 1 TP 1 Tp 1 1 1 TP 1 Tp 1 1
4 4 4
tP 4
tp 4 4 4
tP 4
tp
Male gametes
1 1 1 1
4
TP 4 Tp 4 tP tp
4
1 1 1 1
1 16 16 16 16
4
TP TTPP TTPp TtPP TtPp
Tall purple Tall purple Tall purple Tall purple
1 1 1 1
1 16 16 16 16
Tp
setemag elameF
1 1 1 1
16 16 16 16
1
4 tP TtPP TtPp ttPP ttPp
Tall purple Tall purple Short purple Short purple
1 1 1 1
16 16 16 16
1
4 tp TtPp Ttpp ttPp ttpp
Tall purple Tall white Short purple Short white
F2 9
Tall purple 3 3 Short purple 1
16 16 Tall white 16 16 Short white
FIGURE 5.24 Dihybrid cross of a pure-breeding tall purple-flowering pea plant with a pure-breeding short
white-flowering pea plant: how to derive the possible combinations of alleles for each gamete.
proportions of each phenotype. eyes are crossed with pure-breeding fruit flies with straight wings
and purple eyes.
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b The F1 cross is between heterozygous fruit flies. The F1 cross = CcRr × CcRr:
The alleles for each trait (Cc and Rr) assort independently of CR Cr cR cr
one another, so four equally likely combinations of alleles CR
are present in the gametes of the F1 generation Cr
A Punnett square is used to determine the possible cR
genotype and phenotype ratios of the F2 generation. cr
c As with the monohybrid cross, each square is filled with the The possible F2 generation of offspring is filled in.
product of the combining female and male gametes. CR Cr cR cr
This simulates fusion of the male and female gametes, CR CCRR CCRr CcRR CcRr
giving all the possible allele combinations. Cr CCRr CCrr CcRr Ccrr
The 16 offspring represent the possible zygotes formed by cR CcRR CcRr ccRR ccRr
different combinations of gametes. cr CcRr Ccrr ccRr ccrr
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d Nine of the 16 squares show offspring with at least one To determine the ratio of phenotypes, it is helpful to code
C and at least one R allele, and these offspring will have the different categories.
both dominant phenotypes, curly wings and red eyes. Key:
Three of the 16 squares show offspring with at least one Blue = curly wings and red eyes
C allele for curly wing shape and two rr alleles for purple Orange = curly wings and purple eyes
eye colour. Green = straight wings and red eyes
Three of the 16 squares show offspring with two cc alleles Yellow = straight wings and purple eyes
for straight wings and at least one R allele for red eyes.
Just one of the 16 squares shows offspring with the CR Cr cR cr
genotype ccrr for both recessive phenotypes: straight wings
and purple eyes.
CR CCRR CCRr CcRR CcRr
Therefore the phenotypic ratio is 9:3:3:1.
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Northern
Southern
Western
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Currently, the GRDC funds research programs at the University of Western Australia, such
as chickpea crop resilience.
Adapted from The science of crossing and crops - Grains Research and Development Corporation
Questions
1 List the environmental factors that affect grain production in WA.
2 Recall the relationship between genotype and phenotype.
3 Explain how a scientist may find out which allele is dominant or recessive in wheat plants.
4 Farmers choose specific wheat varieties to breed. Justify this decision.
Continuous variation in a group of individuals can be shown using a histogram (Figure 5.29).
Discontinuous variation occurs when only one gene is involved. It results in a small number of
discrete phenotypes, such as pea plants with either purple flowers or white flowers, but no colours
other than these.
a b
0.3
0
Skin tone
FIGURE 5.29 Continuous variation in skin tone is due to the additive effects of at least three melanin-producing
genes, represented here as A, B and C. The alleles a, b and c do not produce melanin. a Punnett square of
genotypes and b histogram showing the probability of each phenotype in the offspring of AaBbCc parents.
Key concept
An organism’s phenotype is influenced by the alleles in its genotype. The inheritance of alleles
can be either single-gene inheritance (two or more alleles at a single locus) or polygenic
inheritance (multiple alleles at multiple loci, each contributing to the phenotype).
TABLE 5.3 Comparing continuous and discontinuous variation
Incomplete dominance
Incomplete dominance occurs when two different alleles
are present, but neither allele is completely dominant.
Both alleles contribute to the phenotype, but only partially.
A third intermediary phenotype is observed. If a pure-
breeding red snapdragon plant is crossed with a pure-
breeding white snapdragon plant, as shown in Figure 5.31,
the F1 offspring all have pink flowers. When these F1 pink
snapdragons are crossed, the F2 offspring have flowers
in the ratio of 1 red : 2 pink : 1 white. This is known as
incomplete dominance or partial dominance, because
P Pink × Pink
CR CW CR CW
Gametes CR CW CR CW
F1
FIGURE 5.31 The result of crossing snapdragons with pink flowers among themselves is a phenotypic ratio of
approximately 1 red : 2 pink : 1 white.
Codominance
Codominance occurs when two alleles are completely dominant. Both alleles are expressed
and observed in the phenotype. In humans, blood group AB is a joint phenotype. The alleles that
contribute to the trait are IA and IB . Both alleles are completely dominant and completely expressed.
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The study of certain coat colours in horses and cattle also reveals this type of dominance relationship.
Both alleles in the genotype are fully expressed in the heterozygote. Such traits are said to be
codominant. In shorthorn cattle, alleles for coat colour are inherited in this way, and the two alleles
are expressed as red coat (CR ) and white coat (CW ). This is similar to the incomplete dominance shown
in snapdragon flowers, but in this case, the offspring of the pure-breeding red and white parents have
roan coats (CW CR), which are a mixture of red and white hair. The codominant inheritance of coat
colour in shorthorn cattle is illustrated in Figure 5.32. An outline of the differences between the types
of dominance relationships is provided in Table 5.4.
P White bull × Red cow
CWCW CRCR
FIGURE 5.32 In shorthorn cattle, codominant inheritance causes a roan coat colour in the offspring of
pure-breeding red and white parents.
Key concept
The alleles in the genotype of an individual can be classified as homozygous or heterozygous.
The interaction between alleles can be expressed as phenotypes that are dominant, recessive,
incompletely dominant or codominant.
TABLE 5.4 Three types of dominance
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FIGURE 5.34 Incomplete dominance (white, red and pink flower colours)
TABLE 5.5 Differences between the types of dominance relationships in terms of genotype and phenotype
YCARETIL CIFITNEICS
Scientists study the inheritance factors that affect sheep breeding. If the right sheep genes
are selected, flocks will display beneficial phenotypes based on those selected genotypes. The
Australian Sheep Breeding Values (ASBVs) help sheep breeders select sheep with the most
desirable traits for breeding. ASBVs are based on precise genetic analysis and can be used to
improve flock genetics. Only rams and ewes found to have the advantageous alleles are bred.
This can result in permanent genetic changes in a population of sheep.
Desirable genetic changes in a flock result in improved phenotypes for traits such as body
weight, fleece weight, growth rate, disease resistance and diameter of the wool fibre. Farmers
can then sell sheep and sheep products at a higher price, leading to economic growth. This has
been the case in WA.
The slower, less accurate method of selective breeding or artificial selection (the
breeding of plants and animals to produce desirable traits in successive generations) uses a
hypothesis-based approach. This approach involves the assumption that selected sheep that
display specific phenotypes always carry the genes that code for that trait. Another assumption
is that all of the offspring will have the trait. However, several genes may be required for
the production of a particular trait, and not all of them will be passed to all of the offspring.
Additionally, linked genes are inherited together more frequently because they are located
near one another on the same chromosome, leading to further uncertainty. More modern
techniques involve biotechnology. Using a map of the sheep genome and DNA profiles of
individual sheep has led to faster and more accurate selective breeding programs. However,
this technology is in its infancy.
Variants in phenotypes are affected by genetics and the environment. Scientists are
trying to develop better technology in order to more accurately match the cause (genotype
and environment) and effect (phenotype) for a particular trait. Currently, technology cannot
tell farmers which specific alleles cause which changes to a phenotype. For polygenic traits,
this will be the sum effect of all the genes affecting a particular trait. For some traits, this
means studying thousands of genes for just one trait.
Source: Western Australian Agriculture Authority,
Department of Primary Industries and Regional Development
Questions
1 Scientists studying the effects of specific genes on a trait try to keep other variables
consistent, such as feeding levels. Can you think of other environmental factors that should
be kept constant to enable results to
be valid (e.g. age and sex)?
2 List sheep products that are used in
Australia.
3 Describe the breeding objectives a
sheep farmer might have.
4 Once breeding objectives are decided
01paT/moc.kcotsrettuhS
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Analysis
In the pedigree illustrated in Figure 5.38, we see that two unaffected parents in the F1 generation had
Pedigree analysis 1: an affected son. At least one of the parents would need to have had the allele causing the condition
How to solve a genetic to pass it on to the son. If the allele was dominant, the F1
pedigree No. 1
Andrew Douch uses a parent would have been affected. As the parents are carriers, I
hypothesis strategy to rather than being affected by the condition, the allele must
solve pedigree problems.
be recessive.
If the mode of inheritance was X-linked and recessive,
II
the P generation female parent would have the genotype
XrXr. Her sons would have to be affected, because they
would have received their one and only X chromosome from
her, and she only had the allele with the condition to pass III
on to them. This rules out the chance of it being X-linked
and confirms that the mode of inheritance is autosomal FIGURE 5.38 Pedigree for an autosomal
recessive. recessive condition
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Key concept
A pedigree is another type of visual representation that can be used to study and predict
patterns of genetic inheritance.
Sex-linked inheritance
A pair of sex chromosomes is present in sexually reproducing organisms. In humans, females carry XX
sex chromosomes and males carry XY sex chromosomes. Human sex is determined by the presence or
absence of a Y chromosome. If a Y chromosome is present along with the X chromosome, the embryo
develops into a male. If a Y is absent, the embryo develops into a female.
Genes carried on the sex chromosomes show inheritance patterns that can be described as sex-
linked. Sex-linked inheritance can be detected from phenotypes that segregate differently between
males and females. It is not possible to be certain about sex linkage from a pedigree chart, because
autosomal traits could produce the same pattern of inheritance. At
times, signs that a trait is not X-linked will become evident.
X-linked inheritance can be eliminated as a possibility if a Locus
father passes a trait to his son. Fathers cannot pass X-linked traits
to their sons because their X chromosomes are passed to their
daughters. They only pass their Y chromosomes to their sons.
Conversely, mothers pass their X chromosomes to their sons as
well as their daughters, making it possible for X-linked traits to pass
from mother to sons or daughters. As males contain only a single X
chromosome, the chance of X-linked inheritance of disease is higher
in males than in females. This is because the dominant or recessive Y
allele on the single X chromosome will always be expressed: there is
no other allele present (see Figure 5.40). If the allele locus was on an
autosome, there would be a homologous chromosome with a paired
X
allele that could affect expression.
The locus (location) of a particular gene found on the FIGURE 5.40 An allele on the X
X chromosome does not correspond to any locus on the Y chromosome has no corresponding
chromosome; hence, it is an X-linked gene. allele on the Y chromosome.
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There are several sex-linked disorders in humans and other animals. In the same way they
are used for studying autosomal traits, Punnett squares can be used to help predict genotype and
phenotype ratios for sex-linked inheritance. The allele symbols are different and need to be carefully
adhered to. The letters X and Y are used in the Punnett square to indicate sex-linked inheritance
is being studied. Other superscripted letters are used to show whether the allele is dominant
or recessive. For example, Duchenne muscular dystrophy is a condition that causes muscles to
progressively weaken. Individuals with this disease often die during their teens or early 20s. Muscular
dystrophy is caused by a recessively inherited mutation to a gene that codes for the protein
dystrophin. The recessive allele Xd for this gene is located on the X chromosome. Possible genotypes
and phenotypes for Duchenne’s muscular dystrophy are listed in Table 5.6. To determine genotype
and phenotype ratios, Punnett squares can be used. For example, if an unaffected female carrier
married an unaffected male, can you work out the probability of their offspring being an affected male
or an affected female? A Punnett square will help work out the probability.
TABLE 5.6 Possible phenotypes and genotypes for Duchenne muscular dystrophy
Phenotype ratios: 1 unaffected female : 1 unaffected female carrier : 1 unaffected male : 1 affected
male
There is a 50% chance of having a son. The probability of a son having the condition is 50%, so
the probability of having a son with the condition is 50% × 50% = 25%.
Diseases caused by mutated genes located on the X chromosome can be inherited in either a
dominant or recessive manner.
Analyse the pedigree in Figure 5.41 to help you further understand X-linked inheritance patterns.
Because her
father is affected,
the daughter will receive
his X chromosome
with the X-linked recessive
trait and be a carrier.
noitareneG sciteneG :ecruoS
Y-linked patterns
If a trait is carried on the Y chromosome, it is said to be Y-linked. Only males are affected. Y-linked
traits are rare because the Y chromosome is short and has a limited number of genes, most of which
code for male sexual development. ‘Maleness’ in humans is determined to a large extent by the SRY
gene carried on the Y chromosome. Other Y-linked genes are relevant to testis development and
sperm production. By definition, inheritance of genes that appear on the Y chromosome is along the
male line, from father to son.
Key concept
The inheritance of genes that are found on the X chromosome can be X-linked recessive or
X-linked dominant, and show different patterns for males and females. X-linked recessive
phenotypes are more common in males because they only have one X chromosome and will be
affected regardless of whether the allele is dominant or recessive. Y-linked phenotypes are only
seen in males because they are the only sex to carry a Y chromosome.
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The allele cannot be recessive as two affected The allele cannot be dominant as two unaffected
parents could not have an unaffected offspring. parents could not have an affected offspring.
The parents MUST be heterozygous. The parents MUST be heterozygous.
FIGURE 5.43 Not all modes of inheritance can be determined from a pedigree.
Yes No
Dominant Recessive
Yes No Yes No
No
Are all daughters of an
affected male affected?
Yes
X-dominant
FIGURE 5.44 Using a dichotomous key to determine likely mode of inheritance from a pedigree
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Remember: when you answer mode of inheritance questions, you may not always be able
to confirm the mode of inheritance. You can make predictions based on the evidence and using
visual representations such as Punnett squares and pedigrees; however, you cannot confirm these
predictions without conducting genetic tests (e.g. using biotechnology, see Chapter 6).
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7 The pedigree below shows the inheritance of freckles in a family. The allele for freckles (F)
is dominant to the allele for no freckles (f). What is the genotype of individuals I2 and II4?
I
1 2
II
1 2 3 4 5 6
III
1 2 3 4 5 6
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YTIVITCA
To be able to distinguish continuous data from discontinuous data
You will need
Metre ruler or tape measure
What you will do
Record the heights of all students in your class or cohort, either in one communal table on the white
board or in a table projected onto a screen. A minimum sample size should be around 20 students.
Studying your results
Group the data in a frequency table.
HEIGHT (CM) FREQUENCY
150–<155
155–<160
160–<165
165–<170
170–<175
175–<180
180–<185
185–<190
Analysis of results
1 Draw a histogram of the results or use Word or Excel to create a chart.
2 Evaluate the reliability of your data in relation to how repeatable the results are and how
representative your data are for the human population.
3 Your chart (graph) should look like a bell curve. Explain why that would be.
4 Calculate the mean and median.
5 Differentiate between a bar graph and a histogram.
6 You may like to collect a discontinuous data set by surveying whether the students in your class
have attached or detached earlobes.
7 Tabulate the discontinuous data then construct a bar graph.
8 Explain how the results indicate that human height is caused by polygenes and not just multiple
alleles of one gene.
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Barley (Hordeum vulgare L.) was one of the first cultivated grains. A member of the grass family, barley is
now grown in over 100 countries. Barley has 14 chromosomes and self-pollinates asexually to reproduce.
A single gene with two alternative alleles controls pigmentation in barley. The dominant allele results
in a phenotype with green pigmentation. The other allele produces no pigmentation, and when
homozygous, it results in a white (or albino) recessive phenotype. In the heterozygote, the dominant
expression of green pigment masks any expression of the allele coding for no pigment (albino).
Aim
To perform a monohybrid cross and predict phenotypic ratios
Time requirement
20 minutes
Materials
• 25 seeds of genetically selected barley
• Filter paper
• Disposable plastic Petri dish
• Plastic pipette
• Forceps
• Scissors
• PPE: lab coats, safety glasses, gloves
Risks
WHAT ARE THE RISKS IN THIS INVESTIGATION? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
Some people may be allergic to particular seeds. Do not eat seeds. Be aware of any known allergies.
Procedure
1 Place a piece of filter paper into the bottom half of a Petri dish. Trim the paper as necessary so it
lies flat.
2 Soak the filter paper with tap water using a pipette. Remove or drain any excess water that is not
absorbed by the paper.
3 Sprinkle the seeds evenly over the moistened paper in the Petri dish. Using your forceps, ensure
the seeds are evenly spread out (approximately 1 cm apart).
4 Place the Petri dish with seeds on a bench with sufficient access to sunlight, keeping them at
room temperature.
5 Rehydrate the seeds twice a day using a pipette to prevent them from drying out. This process of
twice daily rehydration should continue until the barley seedlings reach 2 cm in height, which will
take approximately 1 week.
6 Propose a hypothesis about the phenotypic ratio you would expect to see using a Punnett square
(monohybrid cross), where ‘ A’ represents pigment produced (green, dominant) and ‘ a’ represents
no pigment produced (white, recessive albino).
A a
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Results
1 Record your individual and class data in the table below:
TOTAL NUMBER OF NUMBER OF SEEDLINGS OF EACH COLOUR
SEEDLINGS GREEN ALBINO
Individual data
Class data
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WS
CHAPTER 5 SUMMARY
Chapter 5 • The genotype of an organism is the resulting genotypes and phenotypes and
Activity sheet
combination of alleles it has for a particular their proportions.
gene or multiple genes. • Observed phenotypic ratios for any cross
• For any gene, an individual may have two may vary from those predicted by a Punnett
alleles that are identical (homozygous) or square. This is due to:
different (heterozygous). • random assortment of alleles on
• For single-gene inheritance, the presence chromosomes during meiosis
or absence of certain alleles determines • the fertilisation of random gametes.
an organism’s phenotype. Phenotypes • A test cross can be used to determine the
may be described as dominant, recessive, genotype of an individual displaying the
codominant or incomplete. dominant phenotype. It involves crossing
• In a monohybrid cross between two pure- the individual with a homozygous recessive
breeding (homozygous) parents: mate and analysing the offspring.
• the F1 offspring are all heterozygous and • Discontinuous variation is displayed by
show the dominant phenotype phenotypes that are governed by a single
• in a subsequent cross between gene. Continuous variation is shown for
F1 individuals, the F2 offspring are phenotypes that are governed by polygenic
predicted to show dominant and inheritance.
recessive phenotypes in the ratio of 3:1. • Sex-linked inheritance is suggested when
• In a dihybrid cross between two parents there is an unequal phenotypic ratio between
pure-breeding for two independently males and females, although this does not
assorting characteristics: confirm it.
• the F1 offspring are heterozygous for • X-linked recessive phenotypes are more
both traits and show both dominant common in males than in females. An
phenotypes affected daughter must have an affected
• in a subsequent cross between father.
F1 individuals, the F2 offspring are • X-linked dominant phenotypes are observed
predicted to show four combinations in all affected females and males.
of phenotypes, dominant–dominant : • A pedigree is a helpful representation of
dominant–recessive : recessive– inheritance; however, it cannot confirm the
dominant : recessive–recessive in the mode of inheritance.
ratio of 9:3:3:1. • Y-linked phenotypes are exclusively male
• Punnett squares are a convenient way because the allele is only present on a Y
to represent crosses, and to predict the chromosome.
CHAPTER 5 GLOSSARY
Allele One of various versions of the same Autosomal trait A trait coded for by a gene
gene (at the same locus) distinguished by small on an autosome, a chromosome that is not a
differences in its DNA sequence sex chromosome; a gene of this kind is called
Artificial selection The breeding of plants autosomal
and animals to produce desirable traits in Carrier In reference to a genetic disease, a
successive generations; also known as selective carrier is a healthy, heterozygous organism
breeding carrying an allele for a recessive phenotype;
Autosomal inheritance The passing on of a the organism may transmit the recessive
trait through a gene located on an autosome, a allele and its associated phenotype to its
chromosome that is not a sex chromosome offspring
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Discontinuous variation Variation in a Multiple alleles The term given when three or
characteristic that shows two or just a few more alleles of a gene exist among members of a
clearly distinct phenotypes population
First filial generation (F1) The first generation of Parental generation (P) Two individuals or
offspring produced from a cross between two lines that represent the start of a breeding
parents (P) experiment; their offspring are the F1 generation
Gene A set of instructions that specifies the Partial dominance See incomplete dominance
structure of a protein Phenotype The actual form taken by a specific
feature in a particular individual, based on their
Genetics The study of the mechanisms and
patterns of inheritance associated with the genotype and influenced by the environment;
transmission of coded chemical instructions it can be used in reference to particular traits
from one generation to the next or characteristics, or to the overall form of an
individual
Genotype The specific combination of alleles
for a particular gene locus belonging to an Polygene A gene whose alleles have a small,
individual or cell additive effect on a phenotype; many polygenes
together contribute to continuous variation in a
Heredity The study of inheritance; the genetic phenotype
transmission of characteristics from one
generation to the next Polygenic inheritance Transmission between
generations of characteristics that are controlled
Heterozygous A genotype with two different by polygenes (see polygenes)
alleles for a single gene locus
Punnett square A Punnett square is a table that
Homozygous A genotype with two identical displays all the possible offspring genotypes
alleles for a single gene locus given the parent alleles that can pair up at
Incomplete dominance The state in fertilisation; it can be used to determine
which a heterozygous individual has a the likelihood of producing offspring with
phenotype that is intermediate between those of particular genotypes and phenotypes from
the corresponding homozygous individuals known parental genotypes, and sometimes
to deduce parental genotypes given offspring
Independent assortment Random orientation
of maternal and paternal homologous genotype and phenotype percentages
chromosomes at the equator during metaphase Pure-breeding A line of organisms that always
I, resulting in random combinations of alleles in produce offspring with the same phenotype
the gametes at the conclusion of meiosis when crossed with one another
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Understanding
3 Explain what ‘pure-breeding’ means. Why was it important for Mendel to use pure-breeding
plants in his experiments?
4 Explain why siblings are not identical, even though they inherit their chromosomes from the
same parents.
5 Explain why none of the offspring of a tall pea plant and a short pea plant are of intermediate
height.
6 Distinguish between the effects of random assortment of alleles and linked alleles on
phenotype, and explain what accounts for these differences.
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Applying
7 Two grey rats are mated. Half the offspring are grey, one-quarter are white and one-quarter are
black.
a Assign the alleles for coat colour.
b Describe the genotypes of the parents and the offspring.
c What kind of dominance is this?
8 There are four possible phenotypes for ABO blood groups in humans: A, B, AB and O. The
most common of these, O, is the recessive phenotype. The phenotypes are determined by three
alleles, of which IA and IB are codominant and i is recessive to both.
a Write each possible genotype and the corresponding phenotype.
b If a woman is heterozygous with blood type A and a man is heterozygous with blood type
B, predict their children’s possible blood type(s) and the probability of each. Support your
conclusions with a Punnett square.
9 Some fruit flies carry an X-linked recessive gene for white eye colour, over which the red-eyed
phenotype is dominant. Predict the proportion of red-eyed and white-eyed offspring and their
gender resulting from a cross between an F1 female and an F1 male. Use a Punnett square to
support your prediction.
10 In mice, coat colour is determined by an autosomal gene, and pink coat colour is dominant
to brown. Dwarfism is caused by an X-linked recessive allele. If a brown female dwarf mouse
mates with a pure-breeding pink male of normal size, what will the phenotypic ratios in each
gender be in the F1 and F2 generations?
11 In cherry tomatoes, a tall vine is dominant to a dwarf vine, round fruit is dominant to pear-
shaped fruit, and red fruit is dominant to yellow fruit. If you crossed a pure-breeding tall,
round-fruited, red-fruited plant with a short, pear-shaped-fruited, yellow-fruited plant,
what would you expect to be the appearance of the F1 generation? Assuming that the genes
controlling these three characteristics are inherited independently, what are the possible
combinations of genes in the gametes of the F1 generation?
Analysing
12 The snapdragon (Antirrhinummajus) can show a condition called ‘aurea’, in which the leaves
appear a golden colour instead of green. A pair of aurea snapdragons with golden leaves was
crossed and they produced 101 offspring: 67 with golden leaves and 34 with green leaves. Draw
a Punnett square for the cross and use the data to explain how the ratio seen in the F2 offspring
could have arisen.
13 A test cross of fruit flies with curly wings and red eyes produces offspring with red eyes, half of
which have curly wings, and half, straight wings. Identify the genotype of the original red-eyed
fruit fly with curly wings and provide evidence to support your conclusion.
14 A male pure-breeding fruit fly with a standard brown body is crossed with a female pure-
breeding fruit fly with a yellow body. All of the male offspring have yellow bodies, whereas all
of the female offspring have brown bodies.
a Explain where the gene is located.
b Predict the proportions of the phenotypes in the offspring produced by crossing the F1 fruit
flies.
Evaluating
15 Discuss the benefits and limitations of studying Mendelian inheritance patterns in humans.
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Creating
16 Would you consider most phenotypes to be caused by a single gene or polygenic? Discuss the
observations you would cite in support of your point of view.
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6 Albinism is an inherited trait that results generation were crossed with one another to
in a lack of colour in the eyes and fur of produce a second generation (the F2 generation).
mammals, including guinea pigs. Non-
7 On the basis of the above information, what
albino guinea pigs have coloured fur.
seed phenotypes would be present in the
a A non-albino male and a non-albino
F2 generation and in what proportions
female guinea pig were crossed and
would they occur? Show your workings.
produced a litter containing some albino
Use S1 to indicate the allele that produces
and some non-albino offspring.
smooth seed and S2 to indicate the allele
b Both male and female albino offspring
that produces wrinkled seed. (5 marks)
were produced in the cross described in
[Q31c 2016 SCSA]
part a. On this basis, explain in words
why albinism cannot be a sex-linked 8 The vinegar fly, Drosophila melanogaster,
trait in guinea pigs. (4 marks) has an XY system of sex determination like
c i What is the probability of obtaining humans. White eyes, due to the eyes lacking
an albino offspring from the cross pigment, is determined by a gene on the
described in part a? (1 mark) X chromosome. The allele that causes
ii Draw a Punnett square to show white eyes is recessive to the allele for
how you obtained your answer normal (pigmented) eyes. List all possible
in part c i. Indicate clearly the genotypes for the white eyes gene for the
genotypes and phenotypes of the following flies. Use ‘ w’ to designate the
offspring. (4 marks) white eyes allele and ‘+’ to indicate the
[Q33a,b 2018 SCSA] allele that produces normal eyes. (4 marks)
1 a male with white eyes
Use the following information to answer
2 a male with normal eyes
questions 7–9.
3 a female with white eyes
In the maize plant, the texture of the seed is 4 a female with normal eyes
either smooth or wrinkled. Seed texture is [Q31d 2016 SCSA]
determined by the alleles at a single gene.
9 Explain what a polygenic trait is. Give a
A plant with wrinkled seeds was crossed
specific example. (3 marks)
with a plant with smooth seeds (the Parental
[Q31e 2016 SCSA]
generation). The parent plant with smooth seeds
was a homozygote for the seed texture gene. 10 Distinguish between a dominant allele and a
All of the offspring of the cross had smooth recessive allele (2 marks)
seeds (the F1 generation). Individuals in the F1 [Q34c(ii) 2015 SCSA]
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6
BIOTECHNOLOGY – CHAPTER 6 CONTENT
By the end of this chapter, you will have covered the
ITS TOOLS AND following material.
SCIENCE UNDERSTANDING
» DNA sequencing enables mapping of species genomes; DNA
profiling identifies the unique genetic makeup of individuals
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Traditional biotechnology
Traditional biotechnology involves purposefully selecting organisms with desirable and useful traits
for breeding and cultivation. The domesticated dairy cows you see in farmers’ fields today bear
little resemblance to the ancient aurochs from which they are descended. And the large, yellow
corn you eat is the domesticated version of a small wild grass called teosinte. In both cases, the
organisms identified as having more desirable phenotypes were selected for producing offspring with
those favourable phenotypes. Modern biotechnology methods also involve purposefully selecting
organisms with desirable and useful traits, but results can sometimes be achieved very quickly.
Selective breeding makes very small changes to phenotypes over many years. The differences we see
in the cows and corn of today have taken thousands of years to produce.
zuhtreN/moc.kcotSi
FIGURE 6.1 The selectively bred domestic dairy cow had a wild ancestor.
/RELLUF REGAR ELLOCIN/yrarbiL otohP ecneicS
NOITADNUOF ECNEICS LANOITAN
FIGURE 6.2 Selectively bred corn: ancient teosinte and modern corn
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Key concept
Both traditional and modern biotechnology methods can be used to improve our lives. Modern
biotechnology builds upon our accumulated knowledge of the structure and functioning of
DNA to develop new varieties of organisms much more quickly than traditional methods.
DNA Ligase
fragment
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To date, almost 4000 different restriction enzymes have been identified. Although each enzyme
recognises a specific sequence of between four and eight nucleotide base pairs (bp) of double-
stranded DNA, multiple enzymes isolated from different organisms can recognise the same sequence.
Restriction enzymes bind to their restriction site and cut the double-stranded DNA at that point. The
cuts may form either overhanging steps, called sticky ends, which leave some nucleotides exposed
(Figure 6.7), or blunt ends (Figure 6.8), in which the cut has occurred at the same position in each
strand of the DNA and there are no overhanging strands.
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FIGURE 6.7 Sticky ends produced by cutting DNA with the restriction enzyme EcoRI
FIGURE 6.8 Blunt ends produced by cutting DNA with the restriction enzyme AluI
TABLE 6.3 Differences between sticky end restriction enzymes and blunt end restriction enzymes
Exposed nucleotides Blunt ends do not have exposed Sticky ends contain an overhanging,
nucleotide bases at each end. The single-stranded sequence of exposed
ends of the remaining DNA and of the nucleotides (known as a recognition site)
removed fragment are blunt. that is ready for complementary base
pairing.
Specificity Non-specific Specific
Advantage Fragments can join with any other blunt Fragments can join efficiently with a
end fragment. desired fragment that is cut with the
same restriction enzyme. They can
produce specific products at a faster rate.
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Foreign DNA
A T
(e.g. human) T A A
T A Cut Sticky A
C G end G
Cut G C C
A T
A T DNA
T A T
segment
T A Cut T Sticky A
cut by C end T A
C G
G C restriction G T G
Cut C
A T enzyme C
G
DNA segment
T inserted into T
T A
A T plasmid and C A
A Cut
A A joined by G G
T Plasmid cut T
T DNA ligase C
G by restriction T
C C
G C enzyme G
Cut A
T T
C A A
G
G A
C G Foreign DNA is joined with bacterial DNA
A C
T
Bacterial plasmid
FIGURE 6.9 DNA ligases are used to join two pieces of DNA (one from a foreign source). Joining works most
effectively when the two pieces of DNA have complementary sticky ends.
Key concept
Biotechnology tools include the use of restriction enzymes (often from bacteria) to cut DNA,
ligases to recombine DNA (using base-pairing rules), and primers to mark the strand of target
DNA that is needed.
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FIGURE 6.10 Primers anneal (attach by base pairing) to the beginning of a target gene.
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amplification
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/scimoneg-tuoba/vog.emoneg.www//:sptth( etutitsnI
cells’ components. It also carries the
)scimoneG-ot-ediuG-feirB-A/steehs-tcaf
function. Chromosome
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OADNAEUD ADARAHCTAHP/moc.kcotsrettuhS
are removed after every use to avoid
contamination.
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Double-stranded DNA
5' 3’
A C T G T C G A
T G A C A G C T
3' 5’
Heat to 95°C.
1 Denaturation DNA strands will separate as hydrogen bonds are broken.
5' 3'
A C T G T C G A
T G A C A G C T
3' 5'
Cool to 50–60°C.
Primers anneal to template DNA strands.
2 Annealing
5' 3'
A C T G T C G A
Reverse primer
A C T G
A G C T
Forward primer
T G A C A G C T
3' 5'
Heat to 72°C.
3 Extension Taq polymerase synthesises new DNA strands.
5' 3'
A C T G T C G A
A G C T Reverse primer
Forward primer A C T G
T G A C A G C T
3' 5'
5' 3'
A C T G T C G A A C T G T C G A
T G A C A G C T T G A C A G C T
3' 5'
ngiseD setnaD/moc.kcotserettuhS
puorGvU/moc.kcotsrettuhS
FIGURE 6.21 A thermal cycler, in which PCR is carried FIGURE 6.22 Thermal cyclers cycle through set
out as an automated process temperatures.
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TABLE 6.5 Summary of the PCR steps after the mixture is added to the thermal cycler
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The gel is placed in a tray filled with buffer solution, and positive and negative electrodes are
attached at each end of the gel. When the electric current runs, the fragments are repelled by
the negative electrode and move towards the positive electrode at the other end. The gel acts
as a large sieve through which the DNA strands move under the influence of the electric current.
Smaller strands can move through the gel matrix faster than the larger strands, which take longer
to migrate through the gel. This method therefore separates DNA strands based on their size.
DNA itself will not be visible in the gel. To view the separated DNA fragments, ethidium
bromide or another fluorescent DNA-binding dye is added to the agarose gel before it sets.
The dye binds to the DNA and fluoresces under UV light at the completion of the investigation,
showing a pattern of bands that can then be photographed. Each band on the gel contains many
thousands of pieces of DNA of the same length. A band is a well-defined line in a lane on a gel.
A lane is a corridor through which DNA passes after it leaves a well. The bands in each lane are
compared with the bands in the standard. DNA fragments of the same length will overlap and be
seen as one band.
FIGURE 6.23 A researcher pipetting genetic material into an agarose gel for electrophoresis
The position of bands on an agarose gel depends on the size of the DNA fragments in each band;
the smaller the fragments, the further they move in a given time. To determine the size of a given
piece of DNA, molecular biologists use a standard set of molecular size markers (the ‘ladder’). These
are pieces of DNA of a known number of base pairs (bp). By comparing the location along the gel
of the DNA sample with that of the known molecular size markers, the size of the separated DNA
fragments can be determined (Figure 6.24, page 182).
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rekram raluceloM
2 elpmaS
1 elpmaS
3 elpmaS
– Electrode Wells where
the DNA is
loaded
500 bp
+ Electrode
bp = base pairs
FIGURE 6.24 A set of molecular markers of known size (a ladder) is run alongside the samples and allows
identification of the size of the DNA fragments migrating through the gel.
snoitcudorpTecnatsbuS/moc.kcotsrettuhS
bromide, which fluoresces under UV light.
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otohp ecneics/moc.kcotsrettuhS
FIGURE 6.27 The current is turned on.
Visualise and Visualise the fragments by shining a UV light on
compare the apparatus and photographing the results.
The bands in each lane can be compared with
the ladder to determine the length of the sample
in bp.
UNDERSTANDING Samples
4 Describe the purpose of gel
electrophoresis. Marker A B C
in sample A. 500 bp
c Are the wells situated near the 400 bp
negative or positive terminal?
300 bp
200 bp
100 bp
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Most genes are present in the same quantity in every body cell – namely, one copy per haploid
cell or two copies per diploid cell. However, only a small percentage of the genome is expressed in
each cell, and the level at which a gene is expressed can vary widely.
Studying which genes are active and which are inactive in various cell types helps scientists to
understand both how these cells function normally and how they are affected when various genes do
not perform properly. In the past, scientists have only been able to conduct these genetic analyses on
a few genes at once. With the development of DNA microarray technology, however, scientists can
now determine the expression of thousands of genes at one time.
Gene probes can be natural nucleotide sequences, or they can be synthesised in the laboratory.
They have a variety of uses, including finding a certain fragment of a gene after a sample has been
separated by gel electrophoresis, identifying the position of a gene on a chromosome, and detecting
an allele of a specific gene associated with a genetic disease.
Gene probing uses a single-stranded DNA molecule complementary to a gene of interest to
identify, isolate or locate that gene on a chromosome.
A microarray consists of thousands of DNA probes arrayed on a single glass microscope slide
or silicon chip (Figure 6.31). Each probe is designed to be complementary to a gene of interest
in the target cell. The mRNA of the target cell is extracted, reverse transcribed into DNA (now
called copy DNA, or cDNA) and labelled with a fluorescent marker. Fluorescently labelled DNA
is then hybridised (allowed to bind) under
stringent conditions to the probes on the
slide. A scanner measures the fluorescence
for each DNA probe on the slide. From this
information, scientists can work out the
activity of the genes in the cell: the stronger
the fluorescence, the more mRNA in the
original sample and therefore the greater the
activity of each of the genes.
Microarray technology can be used to
detect genetic diseases. For example, genes
that are usually turned off in normal cells may
be turned on, leading to uncontrolled cell
division and cancer. Conversely, genes that FIGURE 6.31 A DNA microarray indicating binding
suppress the development of tumours may be of cDNA to the DNA probes in one sample (red
turned off. Microarray technology offers a way fluorescence), in another sample (green) and in both
of diagnosing a cancer at the molecular level. samples (yellow)
Key concept
Biotechnology techniques include PCR to amplify (increase) the amount of DNA, gel
electrophoresis to visualise DNA, and microarrays to detect genes and their expression.
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3 The sequencing DNA primer is annealed to the single-stranded DNA at the 3' end of the original
strand, which provides a starting sequence for synthesis.
4 DNA polymerase extends the new strand by attaching complementary dNTPs in the 5' to 3'
direction.
5 When a dideoxynucleotide that has been coloured with fluorescent dye attaches randomly, the
newly synthesised strand terminates (the ddNTP prevents the formation of a phosphodiester
bond).
6 By performing four separate reactions, four separate sets of chain-terminated fragments are
produced.
7 Following the termination step, heating to denature the partially double-stranded molecules
releases the single-stranded chain termination molecules of the various lengths from their
templates.
8 They can then be separated using gel electrophoresis. The nucleotides, which are differently
coloured, run in separate lanes.
9 As gel electrophoresis proceeds, a laser scans across the bottom of the gel, detecting the
different dyes and revealing the base sequence. The terminated strands line up from smallest to DNA sequencing
interactive and
largest. The various colours enable identification of the nucleotide in each position. animation
10 The sequence of the original region of DNA is then finally deduced by examining the relative View these resources
to further your
positions of the dideoxynucleotide chain termination products in the four lanes of the denaturing understanding of
gel. Sanger sequencing.
Use a
ddTTP ddATP ddGTP ddCTP G A C T G A A G C T
sequencing
machine
DNA sequence
5' 3'
C T G A C T T C G A
T A G C
G A C T G A A G C T
A C T G A A G C T
C T G A A G C T
T G A A G C T
G A A G C T
Separate
A A G C T with a gel
A G C T
G C T
C T
FIGURE 6.32 The Sanger sequencing method. The terminated nucleotides are separated and then lined up to produce a sequence.
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discovered that humans share 60% of their genes with fruit flies, Drosophila melanogaster.
Two-thirds of the genes involved in human cancer have equivalent genes in the fruit fly
genome. The evolutionary links between species, or their genetic relatedness, can also be
determined by comparing genomes. Humans and fruit flies diverged from each other about
990 million years ago (mya), but we only diverged from chimpanzees about 5 mya.
CASE
STUDY
Use of next-generation sequencing to study ecosystem
biodiversity
Professor Michael Bunce is a molecular surroundings, usually their habitat. Michael
biologist at Curtin University in Perth, Bunce’s team extract, amplify (using PCR)
Australia. He uses NGS to analyse and analyse degraded DNA. Using a
environmental DNA (eDNA). eDNA is the DNA combination of DNA barcoding and NGS,
that organisms shed into their immediate samples of DNA that in the past were too
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2.0 Eyeless
6.1 Curly wings
3.0 Sparkling
11.0 Female sterile
13.7 Crossveinless eyes
16.5 Clot eyes
wings
36.1 Miniature
wings 39.3 Daughterless
51.1 Scalloped
wings
54.5 Purple eyes
56.7 Forked
bristles
88.0 Mahogany
eyes
94.5 Smooth
abdomen
100.7 Claret eyes
104.5 Brown eyes
FIGURE 6.35 A genetic map of the chromosomes of the fruit fly, Drosophila melanogaster
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Questions
1 State the conservation status of the burrowing bettong in WA.
2 Describe how workers in the field and workers in the laboratory are helping in the fight to
conserve these animals.
3 How were genetic markers used in this study?
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tsiwT neB/emitsmaerD
copulating with males other than
their partners. It is believed that all
copulations with other males take place
under the cover of darkness, either early FIGURE 6.38 Paternity testing shows that superb
in the morning or late in the evening. fairy-wrens are promiscuous.
Questions
1 What is paternity testing?
2 Describe three different uses of paternity testing.
3 Are there any disadvantages in using paternity testing?
Key concept
DNA sequencing and profiling use the tools and techniques of biotechnology to study a species’
complete genome and identify individuals within a species.
Restriction sites
1 2 3
-
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TABLE 6.7 Summary of the technique used to create a transgenic organism (GMO) using a plasmid
Identify and isolate The use of DNA sequencing or mapping Cutting donor DNA
A-A-T-T-C-A-C-C-
the desired gene may help scientists locate a desired gene.
Extract using To cut the gene of interest out of a Sticky end G-T-G-G-
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Plasmid
Foreign genes
inserted into
the corn cell
genome
GM corn
FIGURE 6.43 Bacterial vectors can deliver the target gene into a host.
Plasmid vectors
Agrobacterium tumefaciens is a bacterium that acts like a vector in nature by transferring genes found
on its plasmids to other organisms. It is commonly used in recombinant DNA technology. Plasmids
can be copied numerous times, regardless of whether the bacterial host is replicating its own DNA,
and every time a plasmid vector is replicated, so is the introduced DNA that it contains. Purified
recombinant plasmids can be inserted into a new organism directly. However, despite showing great
potential, this method is not currently an efficient method of gene delivery, because plasmid DNA is
not very stable in body cells in this form.
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Viral vectors
Viruses infect target cells by injecting their nucleic acid into the host cell. By using recombinant DNA
techniques, it is possible to insert desired genes into viral DNA or RNA, and use the virus to insert this
new gene into the target cells. Viruses can accept large DNA inserts, making it relatively easy for them
to accept foreign genes. As viruses are pathogens, it is also necessary to remove or disable the genes
Mechanism of in the virus that cause disease symptoms. Two types of virus currently being used in this way are the
recombination (genetic adenovirus and the retrovirus (Figure 6.44). The main problem with using viruses as vectors is that
engineering) human immune systems attack viruses, and this may decrease their chance of survival within their
Watch the animation
then answer the new host. Furthermore, viral DNA insertion in the host genome can sometimes disrupt normal gene
questions below. regulation and result in the development of cancer.
a b Human gene
within retrovirus
Key concept
Recombinant DNA technology uses the tools and techniques of biotechnology to create
transgenic organisms (combining foreign DNA with host DNA). Vectors can be used as
transgenic organisms to transfer genes into another organism.
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YTIVITCA
distribution seems to be bimodal, with some families containing 1–3 cygnets, but others containing
up to about 14 cygnets. This has led many to speculate that the larger families are the result of brood
parasitism – a female laying her eggs in the nest of a second female and leaving this second female
to raise her young. This process is quite common in ducks but has not been investigated thus far in
black swans.
One way to determine whether a female is the biological mother of her cygnet is to create a DNA
profile for both the mother and the cygnet and determine whether the cygnet shares half of the
mother’s profile.
Aim
To determine, using DNA profiling, whether brood parasitism occurs in black swans and whether this
might explain the larger number of cygnets in some families
You will need
Each student will require a ruler.
What to do
Consider the DNA profile in Figure 6.50 (page 212). The necessary DNA was obtained by capturing
swans, collecting a small blood sample from each, and extracting the DNA. Five STRs have been
identified in black swans (Cam1, Cam2, Cam3, Cam4 and Cam5). Using PCR, these five regions were
amplified in all of the adults and cygnets from eight families of swans. The PCR products were then
separated using agarose gel electrophoresis. Figure 6.50 shows the resulting gel. Each individual has
two alleles for each STR, but sometimes only one band is observed (if the individual has two identical
alleles).
Compare the profile of the mother of each family with the profile of each cygnet in her family and
determine whether the female could have been the biological mother.
Results
Copy the table below and record the results in the second column.
FAMILY BIOLOGICAL CYGNETS PARASITIC CYGNETS
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1 Calculate the proportion of parasitic cygnets in each family and include the results in the third
column.
2 Does there appear to be any difference in the proportion of parasitic cygnets between small and
large families?
Analysis of results
1 Using your results, identify any evidence of brood parasitism in black swans.
2 Calculate the maximum proportion of parasitic cygnets in this sample.
Discussion
1 Explain whether your results support the belief that large black swan families are the result of
brood parasitism.
2 Describe how you could determine whether a cygnet has been fathered by a male other than its
social father.
DNA can mutate spontaneously or after an error is made in DNA replication. Biotechnologists have
developed methods of controlling DNA mutation, intentionally mutating cell DNA to alter how the
cell behaves. In addition, it is possible to transfer DNA from one organism into another. This is called
genetic transformation, and it uses an engineered molecule of DNA to transfer a gene or genes from
one organism to another so that the target organism is capable of producing the protein encoded by
the transforming gene.
Aim
To perform a bacterial transformation using the green fluorescent protein plasmid pGreen
Time requirement
50 minutes
Materials
• Escherichia coli (E.coli) MM294 starter plate
• 10 μL pGreen plasmid
• 2 Luria broth (LB) agar plates
• 2 LB with ampicillin agar plates
• 10 mL LB, sterile
• 10 mL CaCl2, 50 mmol L-1, sterile, ice cold
• 2 transformation tubes, sterile
• 8 plastic pipettes, 1 mL, sterile
• 3 inoculation loops, sterile, disposable
• 4 inoculation spreaders, sterile, disposable
• 2-20 μL variable micropipette
• Sterile tips for 2-20 µL micropipette
• Water bath
• Ice bath
• Fine-point marker pen
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• Stopwatch
• Microtube rack
• Adhesive tape (to seal plates)
• Thermometer
• Incubator
• Ethanol
• PPE: lab coats, safety glasses, disposable glove
Risks
WHAT ARE THE RISKS IN THIS INVESTIGATION? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
Some bacteria may cause disease, so assume them to be Wear lab coats, safety glasses and gloves; wash hands
pathogenic. thoroughly at end of activity.
(Note: E. coli MM294 is a harmless school-safe Decontaminate benches before and after activity. Flood
biological) spills with bleach.
Micro-organisms will grow on the agar plates. Do not open plates once they are securely taped.
Dispose of plates appropriately after autoclaving.
Disinfectants or bleach may leave a corrosive residue. After wiping the bench clean with bleach, ensure the
residue is wiped off; ensure lab coat sleeves are rolled
down and gloves are worn.
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the ‘– plasmid’ transformation tube using a sterile inoculation loop. To dislodge the E. coli cells
from the loop, spin the loop rapidly in the solution. Observe whether the cell mass has transferred
successfully.
4 Immediately pump the liquid in the tube several times to suspend the cell mass in the CaCl2
solution using a sterile plastic pipette. Do not entrain air bubbles in the liquid or allow any liquid
to splash up the sides of the tube. You should see the solution begin to become milky white as the
cell mass is suspended. To check there are no lumps or particles in the tube, hold it up to the light;
then return the tube to the ice.
Procedure – Adding the plasmid
1 The technician or your teacher will
bring the plasmid to your work
station. Transfer 10 μL of plasmid
solution to the transformation
tube labelled ‘+ plasmid’ using a LB LB/AMP
micropipette. Add the plasmid + plasmid + plasmid
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4 Transfer two drops of liquid from the ‘– plasmid’ tube to the ‘LB/Amp – plasmid’ plate using
a sterile plastic pipette. Quickly spread the liquid evenly over the plate surface using a sterile
spreader.
1.5 1.5
LB LB/AMP
1.0 1.0
+ plasmid + plasmid
+ +
0.5 0.5
0.1 0.1
1.5 1.5
LB LB/AMP
1.0 1.0
– plasmid – plasmid
– –
0.5 0.5
0.1 0.1
5 Secure the lid of each petri dish to its base using tape. Leave the plates to rest on the bench
for 5 minutes and then place them in a 33°C incubator for 24–36 hours. You can inspect the
growth after this time. You should see either a bacterial lawn, single colonies, or no growth on
the individual plates. Take the plates into a dark room to observe evidence of fluorescence in the
transformed colonies. (Use of a UV light may enhance the fluorescence.)
6 To count the number of individual colonies, mark each colony with a marker as you count it. Any
plates with cell growth too dense to count as individual colonies can be marked as a ‘lawn’.
Results
1 Record the results of your experiment in a copy of Table 6.8 below.
TABLE 6.8 Bacterial colony results
PLATE RESULT
- Plasmid on LB agar
+ Plasmid on LB agar
Conclusion
Summarise your findings and discuss your results.
Taking it further
Investigate how genetic engineering and bacterial transformation enable the advancement of medical
treatments; for example, in insulin production.
Background
Restriction digestion is the process of cutting DNA molecules into smaller pieces with special
enzymes called restriction endonucleases (or restriction enzymes). These special enzymes recognise
specific sequences in the DNA molecule (e.g. EcoRI GAATTC) wherever that sequence occurs.
Aims
To use restriction enzymes to cut DNA into fragments
To analyse restriction digestion using gel electrophoresis apparatus
Time requirement
55 minutes
Restriction digestion materials
• 8 μL Lambda DNA (1 μg)/ μL
• 20 μL restriction digestion buffer
• 1 μL EcoRI enzyme
• 1 μL HindIII enzyme
• 1 μL BamHI enzyme
• 200 μL sterile nuclease-free water
• 4 sterile 0.5 mL (500 μL) microtubes
• 5–50 μL variable pipette
• 0.5–10 μL variable micropipette
• Microtube rack
• Sterile pipette tips
• Water bath
• Micro-centrifuge (optional)
• PPE: lab coats, safety glasses, disposable gloves
Electrophoresis materials
• 25 μL TBE buffer
• 0.8% agarose gel with 2 μL of Midori green safe stain (for pre-staining technique)
• 50 μL loading dye
• 2–20-μL variable micropipette
• Electrophoresis chamber (blue-gel)
• Power supply 100 V (if using an alternative to blue-gel)
• Blue-light transilluminator (optional)
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Please note: the above measurements are based on using a blue-gel electrophoresis apparatus. If an
alternative electrophoresis chamber is being used, increase the TBE quantities based on chamber size.
Risks
WHAT ARE THE RISKS IN THIS HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
INVESTIGATION?
TBE buffer can cause skin irritation. Wear appropriate personal protective equipment at all times, including
eye protection and gloves. Wash skin immediately if contact does occur.
Disposable gloves may pose allergy risk. Use a type of glove that has no allergy risk and is suitable for the
chemicals being used.
Key
1.5 1.5 1.5 1.5
H = HindIII
1.0 1.0 1.0 1.0 E = EcoRI
H E B C B = BamHI
0.5 0.5 0.5 0.5
C = Control
0.1 0.1 0.1 0.1
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Note: if using a gel electrophoresis chamber that requires an external power supply, carefully
plug the positive and negative electrodes into the gel box without dislodging the gel. The negative
end should be connected to the end closest to the DNA samples. Plug the power source in (set at
100 V), turn it on and let the gel run.
7 After 30 minutes has passed, turn the power supply off and visualise your results either by
turning on the blue light or transferring the gel to a blue-light transilluminator.
(Note: if you are using the post-strain method, the DNA will not be visible until the gel has been
soaked in methylene blue or an equivalent dye for up to 24 hours.)
Results
1 How many cuts did each restriction enzyme make?
2 Measure the distance travelled by the DNA fragments in millimetres and fill in a copy of the table
below.
3 Graph your results for HindIII digest to determine the sizes of the EcoRI digest and or BamHI
digest. [Try graphing the Log (base pairs) vs distance.]
4 Do those fragments add up to the size of Lambda DNA? If not, provide a possible explanation(s) as
to why not.
Analysis of restriction digests of DNA
HindIII EcoRI BamHI
DISTANCE SIZE (BP) DISTANCE CALCULATED SIZE (BP) DISTANCE CALCULATED SIZE (BP)
(mm) (mm) NO. OF BP (mm) NO. OF BP
23 130 21 226 16 841
9 416
6 557
4 361
2 322
2 027
Discussion
1 Why was 1 μL of nuclease-free water added to the microtube labelled ‘C’?
2 Why do we incubate the restriction digests at 37°C?
3 What is the purpose of the dye?
4 What would occur if the gel electrophoresis chamber was filled with distilled water instead of TBE
buffer?
5 Explain why DNA samples must be loaded at the negative end of a gel electrophoresis chamber.
6 What would occur if the electrodes in the electrophoresis chamber were reversed?
Conclusion
Summarise your findings and discuss your results.
Taking it further
Investigate real-world examples of where restriction enzymes are used and how they assist in medical
disease diagnosis.
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CHAPTER 6 SUMMARY WS
• Biotechnology provides ways to improve separate DNA fragments according to size Chapter 6
Activity sheet
our lives and the health of our planet by and to visualise them by using a DNA-
extracting, analysing and manipulating DNA binding dye that fluoresces under UV light.
to make useful products. • Gene probing uses a single-stranded DNA
• DNA biotechnology uses tools such as molecule to identify, isolate or find the
restriction enzymes, plasmids, vectors and position of a gene on a chromosome.
microarrays. Multiple probes form a microarray and help
• DNA biotechnology techniques include scientists measure gene expression.
DNA sequencing, PCR, gel electrophoresis • DNA sequencing allows determination
and recombinant DNA. of the exact nucleotide sequence of DNA
• Restriction enzymes are enzymes isolated fragments. Sequencing can help to identify
from bacteria that cut DNA at specific sites genetic mutations that cause disease, and
known as restriction sites. These sites are also enable gene mapping.
four to eight nucleotides long. Cutting can • DNA profiling is a technique that can be
result in the formation of either sticky ends used to create individual genetic profiles in
or blunt ends. order to differentiate between the DNA of
• DNA ligase is an enzyme used to join two individuals of the same species.
DNA molecules with complementary sticky • Genes can be transferred from one organism
ends or with blunt ends. to another using different vectors, including
• DNA polymerase uses complementary plasmids and viruses, using recombinant
base pairing to synthesise new fragments DNA techniques.
of DNA. • Gene cloning is a process through which a
• Primers use complementary base pairing to large number of copies of a gene of interest
mark a target strand of DNA, showing DNA can be made in bacteria by incorporating the
polymerase where to begin synthesis. gene in a plasmid.
• PCR is a process through which a specific • Transgenic organisms (genetically modified
DNA sequence can be amplified for analysis. organisms) have genes from foreign DNA
• Using gel electrophoresis, it is possible to inserted into their genome.
CHAPTER 6 GLOSSARY
Agarose gel The medium commonly used for Biotechnology The use of living organisms
electrophoresis of proteins and nucleic acids. It and biological systems and processes for human
allows these molecules and an electric current benefit
to flow through it, but also acts as a sieve, Blunt end The end of a DNA fragment that
sorting out the different-sized fragments; shorter is created following cleavage by a restriction
DNA fragments migrate through the gel more enzyme that cuts DNA at the same position on
quickly than longer ones both strands
Annealing In PCR, annealing is the process of Denature In PCR, denaturing is changing
joining separate strands of DNA together as a the molecular structure of a protein or DNA
result of hydrogen bond pairing; it occurs when by applying a high temperature; in DNA, the
the temperature is lowered hydrogen bonds break and the two strands
Band on the gel A well-defined line in a lane separate
on a gel; it contains millions of pieces of DNA of DNA ligase An enzyme used to catalyse the
the same size formation of a bond between two pieces of DNA
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DNA polymerase A member of a class may include short DNA sequences, such as
of enzymes found in all living things, STRs, or they may be whole genes
which synthesises new strands of DNA See
Genetically modified organism (GMO)
based on a template strand and according
transgenic organism
to complementary base-pair rules; DNA
polymerases are important tools in Genome All of the genetic material contained
in an organism or a cell; it includes the
biotechnology because they are capable of
chromosomes within the nucleus and the DNA
making exact copies of fragments of DNA,
in mitochondria and chloroplasts
enabling efficient and accurate amplification of
DNA templates Ladder A standard collection of DNA
DNA profiling A process that is able to fragments of known lengths (molecular size
identify natural variations that exist within markers) used in gel electrophoresis
individual genomes, by using STRs, PCR and Lane A corridor through which DNA passes
gel electrophoresis after it leaves a well
DNA sequencing The process of establishing Linkage mapping Using frequencies of genes
the nucleotide sequence of a piece of DNA that cross over together to determine the relative
Ethidium bromide a chemical that binds to positions of genes on a chromosome in genetic
double-stranded DNA and fluoresces pink mapping
when exposed to ultraviolet light; used Micropipette A tool that dispenses small
to locate DNA in an agarose gel following amounts of samples into PCR tubes or into gel
electrophoresis wells; the volume is adjustable
Gel electrophoresis A technique that separates
Molecular size marker A piece of DNA of
large molecules (either fragments of DNA or known length; a set of molecular size markers
proteins) according to their size and charge, for are run alongside the samples in a gel to
visualisation and identification purposes estimate the size of the DNA fragments in the
Gene cloning The process of using plasmids sample (see ladder)
and bacteria to make numerous identical copies
Next-generation sequencing (NGS) An
of a gene
automatic process that finds the order of
Gene expression The translating of a gene nucleotides in a strand of DNA. The four
into a protein by an organism; the phenotype is nucleotides are labelled with four differently
directly affected by gene expression coloured fluorescent dyes. As electrophoresis
Gene probe A specific short length of single- proceeds, a laser scans across the bottom of
stranded DNA that can bind to a particular gene the gel, detecting the different dyes and thus
of interest the base sequence. A computer can then
Genetic engineering Manipulation of genetic automatically analyse the information from the
material, including altering DNA in an organism gel to read the base sequence.
to suppress or enhance a gene’s activity, or Physical mapping A precise description of a
combining genetic material from different gene’s position on a chromosome; the gene’s
species position is measured and located by the use of
Genetic mapping Identifying and recording base pairs
the relative positions of genes on a chromosome Plasmid A small circular piece of DNA,
using genetic markers, linkage mapping and found in bacteria that is able to replicate
physical mapping independently of the cell’s chromosomes;
Genetic marker A nucleotide sequence that is engineered plasmids can carry antibiotic-
associated with a specific trait; genetic markers resistance markers
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Polymerase chain reaction (PCR) A cyclic between individuals and can be used in DNA
method used to rapidly amplify (replicate) profiling; an STR has a repeat sequence of two
relatively small amounts of DNA into extremely to five bases
large amounts, for further laboratory uses such Sticky end The end of a DNA fragment that is
as gel electrophoresis and DNA profiling created when a restriction enzyme cuts DNA at
Primer A short fragment of single-stranded different positions on each of the two strands
nucleic acid (DNA or RNA); primers can be Thermal cycler A machine used in PCR
made in a laboratory, are about 20 nucleotides that provides tight control over both the
long and are usually labelled with an enzyme, reaction temperature and the duration of
or radioactive or fluorescent dye tag; a each temperature step, ensuring efficient
primer is attracted to a target DNA strand by amplification
complementary base pairing and marks where
Transformation The process by which DNA
elongation/synthesis should start is taken from one organism and inserted into
Recognition site A specific sequence of DNA at another organism, usually of another species, to
which a restriction enzyme will cut obtain a desired characteristic
Recombinant DNA technology Tools and Transgenic organism An organism that has
techniques used to transfer a gene from a cell been modified by incorporating into its genome
of a member of one species to the genome of a a piece of foreign DNA; also called a genetically
different species modified organism (GMO)
Recombinant plasmid A plasmid with foreign Variable nucleotide tandem repeats (VNTRs)
DNA inserted into it Short non-coding regions of DNA that are
repeated many times in the genome of an
Restriction endonuclease (restriction enzyme)
An enzyme that cuts DNA at a specific organism; they are highly variable between
restriction site individuals and can be used in DNA profiling;
VNTRs have a repeat sequence of more than
Restriction enzyme See restriction five bases
endonuclease
Vector In medicine, a vector is an agent that
Restriction fragment A short fragment of DNA transmits pathogens from one host to another;
generated when a restriction enzyme cuts a in genetics, it refers to a vehicle used to transfer
longer DNA sequence DNA sequences from one organism to another
Restriction site A specific nucleotide sequence, Well An indentation in a gel used in a gel
usually 4–8 base pairs long, that is recognised as electrophoresis apparatus. It is made by
a cleaving site for a restriction enzyme inserting a comb into the gel as it sets and is
Short tandem repeat (STR) A short non-coding placed at the negatively charged end of the
region of DNA that is repeated many times in apparatus. DNA samples and a standard are
the genome of an organism; it is highly variable pipetted into a row of wells
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Understanding
4 Predict whether the following cuts made by restriction enzymes will produce sticky or blunt
ends. The arrows show where the cuts occur in the double-stranded DNA.
a b c
TCCGCGGA AGGGCCT GCGGCCGC
AGGCGCCT TCCCGGA CGCCGGCG
Applying
7 Predict the minimum band-sharing percentage in the DNA profiles of a mother and her baby.
8 Look carefully at the gel in Figure 6.47. Based on the figure, match the size of fragments in
lanes 1, 2, 3 and 4 to the sets of measurements presented below.
Power supply Lane 1 Lane 2 Lane 3 Lane 4
Electrode – + Electrode
Buffer
Sample solution
wells
Direction
of movement
Electrophoresis tank
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a How many BamHI and AluI restriction sites are there in the sequence?
b If the sequence is cut by BamHI, how many kinds of fragments of DNA would be produced?
c If the sequence was cut by AluI, how many kinds of fragments of DNA would be produced?
d If the sequence was cut by both BamHI and AluI, how many kinds of fragments would be
produced?
e If the piece of DNA was circular and not linear, how many cuts would have been made by
BamHI to get the number of fragments stated in part b?
11 Looking at the profiles (Figure 6.50, page 212) of the black swan family of eight (family 3,
Figure 6.49), determine whether the male is the biological father of all cygnets.
alafibH/emitsmaerD
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C1 C2 C1 C2 C3 C4 C5 C1 C2 C3 C4 C5 C6 C1 C2
Cam 1
Cam 2
Cam 3
Cam 4
Cam 5
C1 C2 C3 C1 C2 C3 C1 C2 C3 C4 C5 C6 C7 C1 C2
Cam 1
Cam 2
Cam 3
Cam 4
Cam 5
FIGURE 6.50 DNA profile for eight black swan families, which each include a social mother (♀), a social father (♂)
and cygnets (C)
Analysing
12 Identify some of the instances when only a small sample of DNA may be available.
Creating
13 Based on the knowledge you have acquired while studying this chapter, design a way to test
for a mutation resulting in the deletion of a region of 100 nucleotides that does not contain any
restriction sites.
14 Explain how you would use DNA profiling to design a breeding program that minimises
inbreeding of an endangered species.
Reflecting
15 Complete the following sentences
a Before I started studying this topic, I thought biotechnology involved …
b After studying this topic, I think biotechnology involves …
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smaller fragments because they have a B RNA polymerase Degrades RNA molecules
higher negative charge. C Ligase
Joins two DNA molecules
C Smaller fragments move faster than together
larger fragments because it is easier for D
Restriction Synthesises a new strand
them to move through the gel. enzyme of DNA
D Smaller fragments move faster than
5 A breeder kept only albino guinea pigs.
larger fragments because they have a
The breeder put one female and two
lower negative charge.
male guinea pigs in the same enclosure.
[Q8 2019 SCSA] The female had a litter of offspring. The
2 In genetic engineering, plant viruses are breeder wanted to know which of the
sometimes used to introduce a foreign gene male guinea pigs was the father of the
into a plant cell. This is because viruses are: litter. Explain how biotechnology can be
A non-living and therefore easy to store in used to determine the father of the litter.
the laboratory (4 marks)
B non-living and therefore there are no [Q33e 2018 SCSA]
ethical issues with using them in this
6 List the main steps involved in producing a
way
DNA profile for an organism. (4 marks)
C able to invade the cell and produce
a large number of viral particles very 7 A number of people who had visited a
quickly particular dental practice were later found
D able to invade the cell and merge their to be infected with a hepatitis virus. Health
genetic material with that of the cell. authorities suspected that these people had
[Q26 2018 SCSA] contracted the virus through the dental
practice. Explain how DNA profiling could
3 In gene cloning, the main purpose of
be used to determine whether this was the
plasmids is to
case. (4 marks)
A identify the gene for cloning
[Q35c 2016SCSA]
B extract the desired gene from a donor
organism 8 State the role that the following factors play
C produce many copies of the desired in gene cloning. (4 marks)
gene a restriction enzymes
D introduce the desired gene into a b ligase
recipient organism. c plasmid
[Q10 2015 SCSA] d vector
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7
BIOTECHNOLOGY CHAPTER 7 CONTENT
IN AGRICULTURE By the end of this chapter, you will have covered the
following material.
SCIENCE UNDERSTANDING
» recombinant DNA technology and DNA identification
technologies are applied in agriculture and environmental
conservation
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a b
gnidrahtrebor/otohP kcotS ymalA
iroela/moc.kcotsrettuhS
FIGURE 7.1 a A healthy wheat crop; b wheat leaf displaying signs of wheat rust disease
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CHAPTER 7 | Biotechnology in agriculture and environmental conservation 217
.gnihsilbuP ORISC morf noissimrep htiw )8002( .la te lliG morf decudorpeR
committing new land to cultivation.
The wheat genome was sequenced and
published in 2018, and has enabled scientists to
undertake more accurate mapping of desirable
genes, such as disease-resistance genes.
With the reference genome sequence
completed, breeders have new tools for
addressing these challenges at their disposal.
They can rapidly identify genes and regulatory
elements underlying complex agronomic traits
such as yield, grain quality, resistance to fungal
diseases, and tolerance to abiotic stress –
and produce hardier wheat varieties. CSIRO FIGURE 7.2 Approximate locations of mapped leaf
has used PCR and gel electrophoresis to reveal rust–resistance genes on a map of wheat chromosomes
PCR markers that are now assisting farmers in
identifying genes that improve rust resistance.
quality (e.g. taste and tenderness). A side effect and breeding, visit
the Animal Genetics
of selecting genetically superior animals is the and Breeding Unit
increase in genetic relatedness and decreasing website developed by
genetic diversity within the population. More
the University of New
England in New South
information on breeding programs is available Wales.
from the Animal Genetics and Breeding Unit
based at the University of New England in New
South Wales. FIGURE 7.3 Breeding superior pigs to increase productivity
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Key concept
Biotechnology is used in agriculture to improve yield, quality and productivity of crops and
animals. However, this can result in reduced genetic diversity in the population.
been developed, which are proving to be an effective solution for farmers. These include canola,
soybean and sugar beet. There are a few different GM soybeans grown in Australia. The popular
glyphosate-resistant Roundup Ready® soybeans have a gene inserted into them from a bacterium.
Roundup Ready crops are tolerant to the herbicide called Roundup Ready, which contains the active
ingredient glyphosate. Glyphosate inhibits a biochemical pathway in plants, preventing them from
producing essential amino acids and causing them to die.
Roundup is a brand name for the glyphosate herbicide. While Roundup is a great weed killer, its
broad-spectrum effects make it a crop killer, too. A company named Monsanto was the first to make
a GM soybean resistant to glyphosate. In this case, the gene providing resistance to glyphosate was
taken from Agrobacterium.
Herbicide-resistant crops may be more productive and may be more environmentally sustainable,
but their use is questioned by many. It is too soon to be sure of the long-term effects on the
environment and on other organisms.
Protein
Protein
Regular crops/weeds Roundup Ready crop Regular crops/weeds Roundup Ready crop
FIGURE 7.4 Roundup Ready crops are resistant to glyphosate. Regular crops and weeds are inhibited from making essential proteins.
Disease-resistant crops
Stem rust is a disease of wheat in eastern
Australia. It is treated by spraying plants with
fungicides. However, the pathogens that cause
stem rust can develop resistance to fungicides,
and new strains of the stem rust frequently
appear. CSIRO has developed a method of
cnI sciP ngiseD/otohP kcotS ymalA
causing damage estimated at greater than $2 billion each year. Normally, regular spraying of
insecticide has been used to eradicate this pest. However, it has been discovered that the soil
bacterium Bacillus thuringiensis (Bt bacteria) produces a range of proteins that are toxic to some
insects. Genes that make proteins toxic to the bollworm are taken from this bacterium and inserted
into cotton plants, and when expressed, the GM cotton produces the same toxin. The use of
genetically engineered cotton reduces the use of insecticides, cutting farming costs. Unfortunately,
resistant strains have evolved in various insects.
In providing farmers of GM cotton with alternative weed and pest management options, GM
cotton could help reduce the environmental impacts that previous management of non-GM cotton
crops has caused. Since 2011, WA farmers have been authorised to grow GM cotton commercially,
and currently more than 99% of cotton grown in Australia is GM cotton.
Key concept
Recombinant DNA is used in agriculture to improve yield, quality and productivity. Further
research needs to be done to assess the efficacy of transgenic organisms in improving nutrition.
an organism. Monsanto Australia gained approval to grow, sell and use drought-tolerant GM corn
in Australia in 2010. This new variety of corn was genetically modified to tolerate cultivation under
water-limited conditions. The corn line also contains a commonly used marker gene encoding
antibiotic resistance. The drought-tolerance trait is conferred by expression of a single bacterial
gene, cspB, from the bacterium Bacillus subtilis, which encodes cold shock protein B. Cold
shock proteins are widely found in bacteria and facilitate adaptation to suboptimal temperatures
by preserving protein synthesis. Similar proteins are found in plants and enable them to tolerate
various abiotic stresses.
In the Southwest of WA, salt-affected agricultural land currently exceeds one million hectares.
This is increasing with time, along with the simultaneous rise of the water table. The implications for
WA’s agricultural industry are substantial – it results in reductions in fertile land, crop yield and quality,
and millions of dollars of lost revenue.
Scientists such as Professor Edward Barrett-Lennard and his team successfully trialled GM wheat
and barley tolerant to high saline conditions in 2013–16. Two genes were introduced into the wheat
plant to create a transgenic organism; an OAT gene from a common plant species A thaliana and
the cyanamide hydratase (CAH) gene derived from the soil fungus Myrothecium verrucaria. The OAT
gene codes for an enzyme that assists growth in elevated salt conditions. The CAH gene codes for an
enzyme that is used as a marker to assist in the selection of the GM plants in the laboratory.
One method of introducing the genes into the wheat genomes for transformation is via
microprojectile bombardment. Gold particles carrying the genes on linear fragments were shot into
wheat embryos using a helium pressure gun. The embryos with the transformed genomes were
selected in the presence of cyanamide (a toxin) using the CAH marker gene.
The professor and his team performed trials in high saline areas abiding by strict criteria to reduce
the risk of potential hazards. They showed that the gene responsible for the tolerance was of low
potential risk as an allergen because the protein products, which are different in structure to known
allergens, are found in food that humans already eat safely. The potential for a transfer of the foreign
genes into non-target organisms was evaluated. Wheat is predominantly self-pollinating (95%).
Although the approximated 5% chance of cross pollination exists, the risks during the trials were
removed because it can only cross pollinate with species of the same genus. Due to geographical
isolation, there were no closely related species close enough for a transfer.
The GM wheat was subjected to different levels of salinity and compared to the non-GM wheat
control group. The GM wheat results were conclusive – where non-GM wheat growth was inhibited
by salt levels, GM wheat survived and grew successfully. The future of this line of wheat is uncertain
without further funding and support.
norihC yhtoroD/moc.kcotsrettuhS
strAeralF/moc.kcotsrettuhS
FIGURE 7.8 Dryland salinity causes huge reductions in crop yield. FIGURE 7.9 GM wheat can grow in higher salt areas.
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Gill B. S., Huang L., Kuraparthy V., Raupp W. J., Wilson D. L., Friebe B. (2008) Alien genetic resources
for wheat leaf rust resistance, cytogenetic transfer, and molecular analysis. Australian Journal of
Agricultural Research 59, 197–205. https://doi.org/10.1071/AR07315
FIGURE 7.10 The CSIRO research team, left to right, front row to back row: Dr Surinder Singh, Mr Lijun Tian;
Dr Qing Liu, Dr Yoko Kennedy; Dr Srinivas Belide, Dr Pushkar Shrestha, Ms Anne Mackenzie and
Dr James Petrie
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environment and which avoids loss of fitness as a result of inbreeding. When the environment
changes, a population rich in variation will have many alleles present, making it likely that some will
suit the new environmental factor. Nature selects those traits that give a survival advantage, through
the process known as natural selection. For natural selection to occur there needs to be variation.
Preserving high levels of inheritable variation helps to retain a population’s current reproductive fitness
and also to maintain its evolutionary potential (its capacity to adapt to environmental change over the
long term). An important role of conservation is the protection of viable gene pools.
Biogeography
To maximise the number of species secured in an ecosystem, there needs to be active protection
and restoration of native habitats, mitigation of threats and management of risks to environments.
Before an action plan is made, there also needs to be an understanding of the biogeography of the
ecosystem.
Biogeography is the study of the distributions of animal and plant species and how those
distributions relate to the environment, to the origins of the species and to the changes that have
occurred over time. It reveals the spatial organisation of biological diversity. An understanding of the
spatial arrangement of each species (the distribution of its population) is vital. The geographical size of
an ecosystem, the habitats it contains, and the changes it has undergone over seasonal to geologic time
scales all have an impact on its biodiversity. We need to know that nature reserves are large enough
and that they have biotic and abiotic factors that are suitable for maintaining a viable gene pool of each
individual species. Biogeographical regions have characteristics, such as temperature, elevation, soil
types and typical species of plants and animals. If the distribution of a species changes over time, this
can help scientists decide whether or not an area needs active protection, restoration or management.
As the climate of a particular area changes, so does its ecology. Modern biogeography often
employs the use of Geographic Information Systems (GISs) to understand the factors affecting the
distribution of organisms, and to predict future trends in those distributions. Biogeographical studies
of invasive species can show how they are dispersing, their likely eventual distribution, and how they
might affect the biotic and abiotic factors in the environment, for example, by causing a decline in
the population numbers and genetic diversity of other species. Geoscience Australia and CSIRO
are working together to generate high-resolution mapping of seabed environments and terrestrial
vegetation to better understand the distribution of habitats, which is key to the support of threatened
species.
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Reproductive behaviour
Reproductive behaviour is behaviour related to the production and care of offspring, including the
establishment of mating systems, courtship, sexual behaviour, fertilisation and raising of young. For
animals to reproduce successfully, they must have a favourable situation, often they must undertake
particular behaviours leading to the union of male and female gametes, and they must help with the
survival and development of the young.
For each species, there is a complex set of behavioural adaptations that coordinate the timing
and pattern of reproductive activity. Reproductive behaviour tends to be relatively stereotyped within
a species, but diverse among different species, especially if they are distantly related. Reproduction
produces viable, fertile offspring that, in turn, will reproduce and thus perpetuate the species.
Reproductive behaviour needs to be considered when planning conservation strategies to prevent
inbreeding and loss of advantageous alleles, gene pool diversity, and reproductive fitness.
Population dynamics
Population dynamics is the study of the number, gender, age and relatedness of individuals in a
population. Population size is directly affected by the number of births, deaths, immigrations and
emigrations. All of these changes can cause a shift in dynamics. But there are many other factors that
can affect dynamics, and most of them are complex in their effects.
If a disturbance (such as a bushfire) affects dispersal, then dispersal can become the factor that
triggers a major change in population dynamics. Other density-independent factors (such as an
infectious disease or tree logging) can cause major changes in population dynamics.
If habitat size and health changes, this can lead to limitations of resources such as food and
shelter. These are density-dependent factors that can cause increased competition and predation in a
population.
Population growth, density, urbanisation and migration (immigration and emigration) are factors
to be considered in population dynamics. A small population usually has a small gene pool. Small
populations therefore have a higher risk of losing genetic diversity (especially due to genetic drift), and
population size is a key consideration when planning conservation strategies.
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Studies have also been carried out to determine the genetic diversity of the gene pool of
populations of elephants and cheetahs. These studies will provide information about, and be used to
help preserve, the genetic diversity that exists in their populations and thus improve their chances of
long-term survival. DNA was extracted from material in their droppings (scats). A major advantage of
collecting faecal DNA is that it does not require capturing the animal. This avoids stress to the animal
and danger to the researcher.
F F M M F
300 bp
200 bp
100 bp
M F X F M
sahretzsE izuS rehpargotohP/serutciP nedniM
300 bp
200 bp
100 bp
X F F M M
300 bp
200 bp
100 bp
FIGURE 7.14 Tasmania Zoo's precinct is home to a very
FIGURE 7.13 DNA profiling of Tasmanian devils using successful breeding program for Tasmanian devils.
DNA from non-invasive sources: tissues a, hair b and The biosecure breeding pens are referred to as 'Devil's
scat c. heaven'.
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Biotechnology has been used to reconstruct more accurate pedigrees to improve the
effectiveness of the Tasmanian devil breeding program on Maria Island, a small island just off the
coast of Tasmania.
In this study, a multiplex PCR-based assay was used to determine the sex of individual Tasmanian
devils. The assay used a new species-specific primer set that amplified a fragment of the SRY gene and
an autosomal micro-satellite marker as an internal positive control. Sex could be found out using DNA
obtained from tissue, hair samples or scats (faeces). This use of biotechnology represents an important
step towards effective monitoring and management of Tasmanian devils.
A disease-free population was released onto Maria Island in 2012 and monitored. The Maria
Island devils are an insurance population (a population brought in from the wild as a safeguard
against the species’ extinction) in case the disease makes the devils extinct on the main island
of Tasmania. DNA analysis showed inbreeding on Maria Island had reduced the genetic diversity
to 77%. Computer modelling showed that introducing eight new individuals every 3 years would
maintain the Maria Island population above 95% gene diversity for the next 40 years. The Tasmanian
devil insurance population breeding program provides a good example of the many ways genetics
can inform conservation of a species.
a b c
zsydjelK zsamoT /moc.kcotsrettuhS
FIGURE 7.15 Khapra beetle: one of the world's most destructive pests of grains such as wheat: a adult; b multiple life stages; c larvae
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In recent years, a devastating disease of pigs known as African swine fever (ASF) has been
spreading globally. There has been a number of outbreaks worldwide, which has increased the risk of
the disease entering Australia. There is no vaccine. Pigs can become infected by eating contaminated
food, by direct contact with other infected pigs, or from contaminated soil or farm equipment. The
disease has a high death rate. The most likely way ASF could enter Australia is through infected pork
products that are then fed to pigs. Pork products that have been seized at international airports or
mail centres are sent to a laboratory for testing. Testing in 2019 found nearly half the products seized
contained ASF virus fragments, up from just 11% in 2018. One way to test for ASF is to use a PCR
technique. To prevent the entry and spread into Australia, diagnostic laboratories must have rapid and
accurate procedures for specific ASF virus detection, such as PCR.
With the spread of ASF into new countries, a sampling and testing program for ASF in goods
surrendered or seized from passengers, or found in mail parcels, was introduced in late 2018. This
will help monitor the risk of ASF entering Australia through food products. Using genetic technology,
samples can be readily tested for evidence of ASF, and other viruses such as foot and mouth disease
(FMD).
The CSIRO Australian Animal Health Laboratory (AAHL) tested samples of pork products
(taken from airline passengers and from mail centres) for ASF virus in late 2018, early 2019 and
again in September 2019. In the first two periods, the samples were collected in Melbourne and
Sydney and in the latter period in Melbourne, Sydney, Perth and Brisbane.
In late 2018, 6 out of 152 samples contained ASF virus fragments. Over the second period, in
early February 2019, 40 out of 283 samples contained ASF virus fragments and 2 products tested
positive for FMD virus fragments. In September 2019, 202 out of 418 samples tested positive for
ASF virus fragments and 3 products tested positive for FMD virus fragments.
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NOITACILPPA
studying their DNA and creating a genetic profile for each individual koala, researchers found
that the genetic diversity within the Kangaroo Island population was low. With little to no
variation between members of the population, they are vulnerable to a rapid population crash.
58tsactuo/moc.kcotSi
Read about the
chlamydia-safe
haven for koalas.
FIGURE 7.17 The koala population on Kangaroo Island only has a low level of genetic diversity as it originated
from the introduction of a small number of koalas from Victoria.
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Key concept
Biotechnology tools and techniques used in conservation include restriction enzymes, PCR,
recombinant DNA, DNA profiling and pedigree analysis.
The seriousness of potential gene flow into non-target crops became obvious when a GMO
farmer was accused of contaminating a non-GM farmer’s crops, causing the subsequent loss of his
farm's organic certification.
The WA farmer’s case (Marsh v Baxter) came before the Supreme Court in 2014. Mr Marsh had
farmed organic non-GM cereal crops from 2004 and canola from 2000. Adjacent to Mr Marsh’s
farm was Mr Baxter’s farm, on which GM canola seed was grown. Two hundred and forty-five canola
swathes (a row of cut grain) containing GM seeds, blew onto Mr Marsh’s farm, which led his organic
certifier, the National Association for Sustainable Agriculture Australia (NASAA), to decertify 70% of his
land in 2010.
Although his land was recertified in 2013, Mr Marsh had suffered economic loss. He took Mr Baxter
to court, but lost at trial and again on appeal. It was difficult to demonstrate that the GM material
actually came from Mr Baxter’s farm, and it was found that Mr Baxter had not acted negligently and
could not be held responsible. Additionally, Mr Marsh was not farming canola or any other genetically
compatible species at the time. (Therefore, there could not have been transfer of genes.) Although
Mr Marsh did not win the case, it did bring to light further ethical issues surrounding GMOs.
Using GMOs may have adverse effects on genetic diversity and on the environment: there may be
effects on non-target organisms, more rapid evolution of pesticide-resistant species, and the possibility
of gene flow from crop species to weed species, resulting in the emergence of superweeds.
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Key concept
Emergence of superweeds
What about the spread of modified genes into the surrounding environment? This depends on how
the plant is pollinated. Plants such as cotton are usually wind pollinated. This could lead to the
spread of modified plants to other nearby crops belonging to farmers who may not want to use
this type of crop because of the unknown long-term effects or its poor acceptance among some
consumers.
Gene flow may occur from transgenic crop plants to other species via wind or contaminated
tools. This means the introduced gene may be transferred. The introduced gene may have been
selected for herbicide resistance, pest resistance or drought resistance. The newly modified species
may be transformed to start expressing the gene, assisting it to increase its growth rate and become a
pest/weed. Farmers may be unable to control the growth of such a weed. This type of weed is known
as a superweed.
Canola is typically alternated on a 2-yearly cycle with a cereal crop such as wheat. Multiple-
resistant oil seed rape appears as a weed in the following year’s crop, especially around field margins
where seeds spilled during harvest can gather. A Canadian study found that these plants contained
resistance genes from up to three GM varieties – so-called gene stacking. Farmers were then forced
to resort to a different and much more persistent herbicide, 2,4-D, to control them.
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FOR AGAINST
Biotechnology is natural; genetic engineering has Biotechnology is not natural; selective breeding only
existed for years; for example, farmers breed specific involves individuals from the same species, whereas
cattle to achieve the desired traits. Biotechnology is biotechnology can mean transferring genes across
simply an extension of this process. species, which rarely happens naturally.
Modifying plants and animals and releasing them into the environment raises the possibility of
them affecting organisms in ecosystems. Table 7.2 presents some of the arguments for and against
the use of biotechnology in terms of its environmental effects.
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Proteins are being produced for use by humans, using other animals or bacteria, and plant crops
are produced that have a higher yield. Fruit such as bananas and tomatoes are being modified so that
they don’t bruise on the way to market or ripen too quickly. With these advancements come another
set of issues for people who are going to eat the GMOs (Table 7.3).
TABLE 7.3 Arguments for and against genetically engineering foods with respect to public health
With the increased use of biotechnology, governments of the world have an obligation to keep
the public informed about issues that are important to them. Many issues have emerged from the use
of genetic engineering. Advisory committees have been set up worldwide for the purpose of alerting
the authorities to any risk factors and to ensure guidelines are consistent worldwide.
In the US’ Farm Belt, superweeds such as pigweed that are immune to what had previously
been the most effective weedkiller, Roundup, are taking over prime crop fields. This has caused
large farming businesses to use greater amounds of very harsh older herbicides.
Monsanto, the company that makes Roundup also sells seeds for plants that are not
affected by Roundup, including corn and cotton. This means that farmers can spray these crops
without worrying about it harming them. These `Roundup-ready ’ crops now account for 80%
of all the corn grown in the US.
Roundup proved so effective that many of the older herbicides that damaged both weeds
and crops ceased to be used. But these new superweeds that are proving resistant to Roundup
have seen chemical companies start to increase production on the older herbicides to try to
wipe out the superweeds.
In addition, the chemical companies are creating new crop varieties that are resistant
to the old herbicides. This will mean that farmers can spray the herbicides on to their crops
without worry, rather than be very careful about where they spray the herbicide.
Questions
1 Glyphosate is the active ingredient of Roundup. Research and explain why Monsanto
initially chose to engineer crops that are resistant to glyphosate rather than to another
chemical.
2 Evaluate the return to older, more powerful herbicides as a long-term solution to this
problem.
3 Suggest how pigweed may have acquired glyphosate resistance.
4 Given the information provided above, discuss the benefits of herbicide-resistant
crops to farmers and how this balances with the benefits to the company that produces
them.
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Cloning
Cloning is the process of making an identical copy of an original. In biology, it is used in two contexts.
First, there is cloning a gene, which involves using recombinant technology: a gene is extracted from
one organism and then inserted into a bacterium, where it is reproduced many times for various uses
and further study.
Second, there is biological cloning, which involves cloning an entire organism: reproductive
cloning. Cloning can make it possible for cattle or sheep with desirable characteristics, such as high
milk production or fine wool growth, to be produced more rapidly than through the normal cycles of
reproduction and selection. It is achieved by embryo splitting or by nuclear transfer.
Embryo splitting
In embryo splitting, egg cells are removed from the donor female and fertilised in vitro (i.e. in tissue
culture) by sperm from the male. After the zygote has divided, the coat around the two cells that
promotes cell division is removed and the two cells are separated. Each cell is then given an artificial
coating that promotes cell division. Embryos that have just begun to differentiate, called blastocysts,
are implanted into surrogate mothers. The individuals are genetically identical; they are like identical
twins but are carried by different surrogate mothers.
Nuclear transfer
The process of cloning by nuclear transfer came to prominence when Dolly the sheep was cloned
in 1996. Nuclear transfer involves removing mature donor somatic cells from a mature animal and
a recipient egg cell from another mature animal of the same species (Figure 7.19 on page 238).
The donor cells are cultured in a nutrient medium before being inactivated, and the nucleus of the
recipient egg cell is removed.
The intact nucleus from a donor cell is fused with the hollow egg from the recipient cow by
an electrical impulse. The new single-celled embryo is cultured for about a week, then cell division
is activated and the developing blastocyst is surgically implanted into the surrogate mother. The
offspring is genetically identical to the nucleus donor.
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Recipient egg
Donor cow from ovary
Donor cells
are cultured
New single-celled
embryo, containing
the DNA of the
Laboratory culture for donor cow only
1 week
Embryo is transferred to
surrogate or frozen for later use
Embryo is transferred
to surrogate cow for
gestation
FIGURE 7.19 Using nuclear transfer to clone a cow from a donor cow
Cloning using nuclear transfer has not been without controversy. The success rate of live births is
low, and many of the offspring suffer from severe deformities. For these reasons alone, the scientific
world is almost universally opposed to experimenting with reproductive cloning of humans.
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Key concept
New DNA technologies, such as cloning and stem cell research, provide hope for solving the
current issues with DNA technology as well as hope regarding future applications.
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CHAPTER 7 ACTIVITY
7.1 Speciation and conservation: the eastern barred bandicoot
The eastern barred bandicoot
YTIVITCA
Hamilton
DNA: 23% variation within
population Eastern barred bandicoot
Mitochondrial DNA: 0%
variation within the population
Between populations
Between species
DNA: 44.8% variation
Mitochondrial DNA:
Mitochondrial DNA:
2% variation
2.3% variation
Tasmania
DNA: 21.8% variation within
population Long-nosed bandicoot
Mitochondrial DNA: 1.1–1.7%
variation within the population
FIGURE 7.22 DNA variability in different populations of eastern barred bandicoots. A 2% variation is the average
difference between subspecies of a mammal species.
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variable nucleotide tandem repeats (VNTRs). The average percentage difference in the VNTRs within
the populations around Hamilton was found to be about 23%, and for those in Tasmania it was 21.8%.
The average percentage difference between the Hamilton and Tasmanian populations was 44.8%.
Further testing was done using mitochondrial DNA (mtDNA) restriction fragment length
polymorphism (RFLP) analysis. This revealed a 0% nucleotide variation within the Tasmanian
populations and a 1.1–1.7% variation within the Victorian populations. The percentage variation
between the Victorian and Tasmanian populations was 2.3%. A variation of 2% is the average
difference between subspecies of a mammal species.
There was no doubt that the two populations had diverged to some extent, due to geographical
isolation (see ‘Divergent evolution’, page 276). The two populations are now considered separate
subspecies. This is vital to how the conservation of these two populations of eastern barred
bandicoots can be managed.
Biologists currently use a variety of species concepts, all of which are based on the theory
of evolution. The biological species concept defines a species as a reproductive community of
populations that occupies a specific niche in nature. The identification of species often uses data from
genetic analysis, and DNA fingerprinting is often used to determine which groups are related – that
is, share a gene pool – and which aren’t. A species defined according to this concept would be the
smallest group of organisms that share a common ancestor not shared by any other organism.
The Australian Government, through the Department of Sustainability, Environment, Water,
Population and Communities, has now listed two subspecies of P. gunnii. The following is an excerpt
from the listing for the eastern barred bandicoot.
Scientific name: Perameles gunnii unnamed subspecies
Common name: eastern barred bandicoot (mainland)
The genetic diversity, as measured by the variable number of tandem repeat markers and
mitochondrial DNA restriction fragment length polymorphisms, among specimens from
Hamilton, Victoria was greater than that found in widespread populations of the Tasmanian
subspecies (Perameles gunnii gunnii). The justification for considering the mainland form to be
distinct is based in part on morphological comparisons of island and mainland forms, and that
mtDNA data indicated separation of 270 000–620 000 years ago.
A long-term captive breeding program, followed by a collaborative genetic rescue program,
was undertaken, because the genetic variation within the mainland subspecies was found to have
been depleted, threatening their long-term persistence. Male bandicoots from genetically diverse
Tasmanian populations were brought across to breed with Victorian females at the Mount Rothwell
Conservation and Research Centre. The program was successful and the scientists involved
celebrated a 200% increase in genetic variation in that population. A successful captive breeding
program commenced in 1991 has now established a population at Mt Rothwell. Other releases at
Hamilton, Churchill Island and Phillip Island are looking promising.
Aim
To investigate speciation in the eastern barred bandicoot and relate this to conservation approaches
Questions
Coming to the
1 Which species definition could be used to justify classifying the two populations as separate genetic rescue of
subspecies? our endangered
2 How might the recognition of two separate subspecies by the Australian Government help in marsupials
Learn more about
re-establishing the eastern barred bandicoot in mainland Victoria? genetic rescue at
3 In your opinion, could losing the mainland subspecies of the eastern barred bandicoot affect the this site.
long-term survival of the species as a whole? Explain.
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WS
CHAPTER 7 SUMMARY
Chapter 7 • DNA identification technologies are applied for example, the introduction of GM
Activity sheet
in agriculture to identify genes in crops and micro-organisms to polluted areas for the
animals that offer increased yield, quality biodegradation of pollutants.
and productivity. • Conservation breeding programs require
• DNA identification technologies are careful planning and should consider the
applied in environmental conservation following factors:
to maintain genetic diversity. Specific • biogeography
applications are: • reproductive behaviour
• monitoring of endangered species • population dynamics.
• assessing gene pools for breeding • Using transgenic organisms may have
programs adverse effects on genetic diversity and on
• quarantine. the environment, including:
• Recombinant DNA technology is being • effects on non-target organisms
applied in agriculture as genes that increase • more rapid evolution of pesticide-
yield can be identified, extracted and resistant species
inserted into crops. • the possibility of gene flow resulting in
• Transgenic organisms have been engineered superweeds
for: • reduced genetic variation.
• resistance to pests and diseases • Australia has strict laws governing the
• faster growth rate commercialisation of GMOs; however,
• greater product quality and yield the protection of non-GMO crop farming
• tolerance to adverse environmental remains an issue.
conditions. • Emerging technologies are being further
• Recombinant DNA technology is being developed, including cloning and stem cell
applied in environmental conservation: research.
CHAPTER 7 GLOSSARY
Adverse conditions Factors in the environment those distributions have changed over geologic
detrimental to the survival or growth of an time
organism
Bioremediation Consumption and breakdown
Agriculture The science and management of environmental pollutants by deliberately
of growing crops and livestock, including introduced or naturally occurring micro-
cultivation of the soil or other medium organisms; the process is used to treat
Beta-carotene (β-carotene) A plant pigment contaminated water and soil
that can be converted to vitamin A after
Captive breeding program (conservation breeding
consumption
program) A breeding program that aims to
Biodegradation The breakdown of an organic maintain or increase genetic variation in a
substance by micro-organisms (such as bacteria population of an endangered species in order to
or fungi) through decomposition avoid extinction
Bioengineering The combination of biology Climate change The current climate change
and engineering tools to create a usable product, occurring on Earth encompasses increasing
such as a transgenic organism global average air and ocean temperatures,
Biogeography The study of the distributions of rising global sea levels, long-term sustained
living things over a geographical area and how widespread reduction in snow and ice cover,
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Understanding
3 Some critics of GMOs are concerned about potential cross-pollination of GMOs with organic
crops, because pollen, a male gamete, can be carried by the wind to neighbouring fields.
Cross-pollination does occur naturally in the wild and produces hybrid plants. For
cross-pollination of a GMO to succeed with another species, the species needs to be
similar. Explain what this means.
4 PCR can be applied both in identification and in recombinant biotechnology processes.
Describe its role in both.
Analysing
5 One concern raised about GM crops is that some traits may be ‘too advantageous’. Explain why
this may be a concern.
The following relates to Questions 6 and 7. GM salmon (AquAdvantage salmon ®) have been bred
to reach market weight in half the time taken by their non-GM form. Many people are concerned
about what would happen if they escaped into the wild. Some believe that engineered salmon
would grow at a faster rate than non-GM salmon in a natural environment, which is what occurs
in a hatchery environment. The results of one study, performed in a similar transgenic salmon, are
summarised in the graph in Figure 7.23.
350
300
250
)sertemillim( htgneL
200
150
100
50
0
Non-GM GM Non-GM GM
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CHAPTER 7 | Biotechnology in agriculture and environmental conservation 245
7 Select the correct word in the following conclusion and rewrite the statement.
It was shown that the increase in the growth rate of the GM fish compared with the wild fish in
the simulated natural habitat was greater/less than that observed in the hatchery tank.
Evaluating
8 Describe the potential impact escaped GM fish might have on non-GM fish.
9 Describe three potential benefits of GMOs.
10 Discuss three possible harmful effects of genetic modification.
11 State the purpose of a captive breeding program.
12 Describe the role of DNA profiling in a captive breeding program.
13 Due to habitat loss and bushfires, koala distribution has become fragmented. Isolation of
populations has led to inbreeding. Explain the impact of inbreeding on a population.
14 State four ways in which agriculture has been improved through the use of biotechnology.
Reflecting
15 Discuss the potential benefits of the application of biotechnology in biology.
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4 On the basis of the information in the 8 Discuss why populations with reduced
table, which of the following platypus genetic diversity face an increased risk of
populations is at the greatest risk of extinction and how biotechnology can be
extinction due to genetic factors? used to reduce this risk. (10 marks)
A Kangaroo Island (wild) [Q37b 2018 SCSA]
B Kangaroo Island (sanctuary)
9 Chymosin is an enzyme produced by
C north-western Tasmania
nursing calves to assist with the digestion
D King Island
of milk. Humans also use chymosin to
[Q23 2016 SCSA]
make cheese. Traditionally, chymosin
5 Agrobacterium is commonly used in the for cheesemaking was obtained from the
production of transgenic plants (its capacity stomach of calves that had been killed
to cause disease is deactivated first). for their meat. It is now obtained from
Outline the role that Agrobacterium plays genetically modified micro-organisms.
in the production of transgenic plants and Describe the advantages of obtaining
explain why it is well suited to this role. chymosin for cheesemaking in this way.
(4 marks) (4 marks)
[Q34e 2019 SCSA] [Q36a 2017 SCSA]
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8
EVIDENCE FOR CHAPTER 8 CONTENT
THE THEORY OF By the end of this chapter, you will have covered the
following material.
SCIENCE UNDERSTANDING
» life has existed on Earth for approximately 3.5 billion years
and has changed and diversified over time
» evidence for the theory of evolution includes
– comparative genomics (molecular evidence)
– the fossil record
– comparative anatomy and embryology
» evolutionary relationships between groups can be
represented using phylogenetic trees
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a b
namreJ naJ/moc.kcotsrettuhS
c d
)ne.deed/0.2/as-yb/sesnecil/gro.snommocevitaerc//:sptth(
0.2 AS YB-CC 43sicnarFdivaD/snommoC aidemikiW
FIGURE 8.1 The diversity of life in WA: a Mitchell’s diurnal cockroach; b peacock spider; c ground shield bug;
d Dawson’s burrowing bee
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CHAPTER 8 | Evidence for the theory of evolution 249
The word ’evolve’ means to develop gradually. It is important to note that the development of an
individual organism is not considered evolution. Individual organisms do not evolve. The changes in
populations that are considered evolutionary are those that are inheritable via the genetic material
that is passed on from one generation to the next. If there are enough changes in the gene pool of
a population, a new species may arise. Evolution may be slight or substantial; it embraces everything
from slight changes in the proportions of different forms of a gene within a population, such as the
alleles that determine the different human blood types, to the alterations that occurred on the path
from the earliest organisms to dinosaurs and humans.
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the branches mark points at which new species arise – evolutionary events that occurred when
populations became so different from other populations of the same species that they could no longer
interbreed. This important concept is the basis of phylogeny. Phylogeny seeks to reconstruct the
evolutionary history of any given group of organisms, studying the similarities and differences between
them. Evolutionary biologists are still wondering, though, how life first started. How did the inanimate
transform into the animate?
Key concept
Evolution is gradual: organisms with small and favourable genetic changes survive more often
due to natural selection; these changes are passed to the next generation and accumulate over
a long time.
The detailed history of the evolution of today’s many life forms is complex, and our path in
coming to understand those details has involved a great many hypotheses, investigations and
analyses. The contemporary view of evolution, the modern evolutionary synthesis, has come
from more than 150 years of research and observation. There are currently five main sources of
evidence for the theory of evolution: biogeography (long term studies on life on earth) comparative
genomics (genetics), the fossil record (palaeontology), comparative embryology (developmental
biology) and comparative anatomy.
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TABLE 8.1 Geologic timeline and key events in the history of life on Earth
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CHAPTER 8 | Evidence for the theory of evolution 253
living in the oceans. Cyanobacteria were able to use carbon dioxide and water to produce organic
compounds and oxygen, much like plants do. It is likely that increased levels of oxygen in the
atmosphere enabled the growth, evolution and diversification of eukaryotes, which relied on
oxygen for respiration.
Biogeography
Biogeography is the study of the distribution of organisms and ecosystems across the world and
through geologic time. The fauna and flora of Australia owe their uniqueness to the isolation of the
landmass. However, Australia and other landmasses in the southern hemisphere share many plant and
animal groups. By looking at the pattern of these distributions today, and that of the fossils, we are
able to reconstruct its evolutionary history.
Many genera of Indian plants are similar to those of the monsoonal environments of northern
Australia. Some Malaysian rainforest genera occur in the rainforests of tropical eastern Australia.
Southern beech trees, Nothofagus, are found as both living and fossil specimens in mainland
Australia, Tasmania, Papua New Guinea, New Caledonia, New Zealand, Antarctica and South America
(Figure 8.2). The mountains and dry valleys of Antarctica have fossils of Glossopteris seed ferns
(embedded in rocks and coal seams) that are the same as those found in coal deposits in India, South
America, South Africa and Australia. The far-flung distribution of these groups provides evidence that
these countries were once connected as Gondwana.
FIGURE 8.2 The red-shaded areas show where southern beech trees, Nothofagus, are found as both living and fossil specimens in
Australia, Papua New Guinea, New Caledonia, New Zealand and South America.
Key concept
Evolution of new species arises gradually and has been influenced by geographical changes
over time.
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Comparative genomics
Comparative genomics is a field of biological research in which researchers use a variety of tools to
compare the genome sequences of different species. The more similar in sequence the genes and
genomes of two species are, the more closely related those species are in their evolutionary history,
Comparative genomics because less time has passed in which mutation and other genetic changes have accumulated. By
Read more about
comparative genomics determining the evolutionary relationships between species from the similarities and differences in
here. their DNA, scientists can better understand how the appearance, behaviour and biology of living
things have changed over time. Features shared by very different kinds of animals, such as humans
and fish, can be encoded by identical genes sequences that have been conserved in both of them.
Such sequences indicate that they share a common ancestor, even though, over time, they have
diverged from one another.
On the other hand, when genomes of closely related species such as humans and chimpanzees
have been studied, certain sequences have been shown to differ, and the nucleotide differences can
be measured.
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Scientists don’t always agree about the best way to measure genetic relatedness. Sometimes
particular genes are compared. Sometimes repeated intron sequences (e.g. short tandem repeats)
are compared. Sometimes all of the differences between the DNA sequences in the genome are
compared. For example, the chimpanzee and human genomes have been compared, revealing
a very close evolutionary relationship. The difference between their genomes is about 4%. The
relatively few genes that differ in the genomes of closely related species are likely to be the genes
that cause the observed differences between them and that make them unique. Additionally, by
comparing the genomes of different species, scientists can gain information about the rate of
change in genes. They have found certain genes have been changing (evolving) faster in humans
than in chimpanzees.
In the past, DNA–DNA hybridisation methods have been widely used to analyse the
relatedness of pairs of species, but they can be unreliable when comparing closely related species.
In DNA–DNA hybridisation, DNA is extracted from two organisms, purified and cut into fragments.
It is unwound and the hydrogen bonds joining the two sugar–phosphate backbones are
broken. The resulting single strands of DNA from the two organisms are mixed. Some of the
double-stranded DNA that forms contains DNA from each of the two species and is known as
hybrid DNA. Some lengths of DNA will not pair up because the bases do not match (i.e. they
are not complementary).
The double-stranded molecules are then heated. Greater similarity in the hybridised sequences
means there will be more complementary bonds – the hybrid strands will bind together more strongly
and be more resistant to separating when heated. The resistance to separating can be measured to
work out evolutionary relatedness. The differences are detected as percentage hybridisation. More
matching indicates the two organisms are more closely related.
Analysis of gene similarities has disproved some evolutionary trees that were based on structural
(morphological) characteristics. For example, comprehensive analysis of the genes of wading birds,
through both DNA–DNA hybridisation and DNA sequencing, has shown that the closest living relative
of the flamingo is not a long-legged, graceful wading bird, as previously thought, but the squat grebe
(Figure 8.3). The diving, piscivorous grebes have in the past been grouped with loons. Long-legged,
long-necked flamingos have over the years been grouped variously with storks, waterfowl and stilts.
Multiple DNA studies have confirmed, however, that flamingos and grebes are more closely related to
each other than to the other groups of waterbirds.
a b
nesnnaJ nairB/otohP kcotS ymalA
ave_mup/moc.kcotSi
FIGURE 8.3 Evolutionary relationships can be supported by DNA evidence, such as the genetic links between the
a pink flamingo and the b horned grebe.
Through analysing variation in DNA or RNA sequences, scientists can obtain a measure of
the difference between organisms and trace evolutionary relationships. Ribosomal RNA (rRNA) is
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species the code is very similar and there are relatively fewer differences: 3' 5' 3' 5'
G A G A
it is a highly conserved code. Subtle phenotypic differences between G–C C–G
G*U G*U
species are due to mutations in genes and the resultant differences in
U*G U*G
the sequences of bases. Over evolutionary time, organisms very slowly C–G A–U
C–G C–G
accumulate changes in the sequences of the genes that encode the G–C C–G
ribosome. Any large, rapid change is unlikely to persist, because the C–G C–G
C–G C–G
functioning of the ribosomes is so critical for all aspects of life and A G U U
G C C
reproduction in an organism. The rRNA of two microbes that have
been sequenced and compared is shown in Figure 8.4, illustrating the FIGURE 8.4 Small differences in
subtleness of the changes. rRNA base sequences between
two microbes
Tardigrada Arthropoda
Annelida
Nematoda
Echinodermata
Mollusca
Tunicata
Bryozoa
Brachiopoda Vertebrata
Platyhelminthes
Cnidaria
Porifera
Ancestral PAX-like gene
evolved here
FIGURE 8.5 Comparative genomics has found shared eye-building genes across all animals with eyes. From
these data, we can draw a phylogenetic tree.
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Molecular homologies such as these also have application in building branching phylogenetic
trees, a technique of molecular phylogeny. In the example of the eye-building PAX6 gene, it is
possible to conclude that as descendent lineages evolved, the gene was modified in a variety of ways
in different lineages, giving rise to the diversity of eye-building genes seen in modern animals.
Phylogenetic trees
Evolutionary relationships between groups can be represented using phylogenetic trees. These diagrams
show how organisms are related to each other, but the tree is hypothetical, not a certain fact. A
phylogenetic tree can be built using physical information like body shape, bone structure, or behaviour,
or it can be built from molecular information, like genetic sequences. Any DNA, RNA or protein sequence
can be used to generate a phylogenetic tree; however, DNA sequences are most commonly used in
generating trees today. The pattern of branching in a phylogenetic tree reflects how species or other
groups evolved from a series of common ancestors. The more closely related species have a more
recent common ancestor. The more distantly related species have a distant common ancestor.
TERM DEFINITION
Species A species (or sometimes another taxon, such as a group of similar species) is found at each tip
of a phylogenetic tree. It is a group of organisms or populations that can only interbreed among
themselves to produce viable, fertile offspring.
Tip A tip is found at the end of a branch, where a species/taxon name is found. If the species/taxon is still
living (not extinct), the name is aligned with the other species’ names.
Node Each point where two branches split is called a node. A node represents a common ancestor shared by
at least two species. A node is the most recent common ancestor of all species on those branches.
Root If you go all the way down to the bottom of the phylogenetic tree, the last node is called the root.
This is the common ancestor of all the species in the tree.
Field guide:
Branch A branch is a line drawn in the phylogenetic tree. At the end of the branch is the tip, where you find a Squarish-corner tree
species/taxon. The length of a branch can represent the divergence time. View the transition from
one style to another;
Taxon A taxon (plural taxa) is a named group of organisms, such as beetles or reptiles. different styles can
Clade A clade is a group of organisms that includes all the descendants of a common ancestor and that be used to show the
ancestor.
same evolutionary
relationships.
Note: every species to the right of the root would have diverged from a single common ancestor at the root.
Tip
Species A
Node Clade
Species B
Species C
Species D
Clade
Species E
Root
Node
Species F
Branch Taxon
Differences between legless lizards and snakes include the facts that legless lizards lack venom
glands, they cannot constrict prey and they have a fleshy tongue rather than a forked tongue.
Morphological (physical) traits help us describe species, but they do not define them. Snakes and
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legless lizards do have structural differences, but they also seem morphologically similar due to the
absence of legs. However, DNA sequencing indicates that legless lizards and snakes evolved from
different lineages of legged lizards. This is an example of convergent evolution, which is discussed
later in this chapter.
a b
LN.LAATIGIDOTOHP /MOC.KCOTSRETTUHS
SHTIFFIRG NEK/MOC.KCOTSRETTUHS
FIGURE 8.7 a Legless lizard; b snake. Snakes diverged from their common ancestor a relatively long time before legless lizards.
To build your own phylogenetic tree, to show relative evolutionary relatedness (how recently
two species shared a common ancestor), you need to know about either morphological differences
or genetic differences. Use the guidelines in Worked example 8.1 to practise constructing your own
phylogenetic tree.
Jellyfish No No No No
Salmon Yes No No No
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5 Continue until all the species have diverged. Jellyfish Salmon Salamander Koala Mouse
0 mya
Remember the tree is a set of hypotheses, and
Placenta
when you are unsure about which species to
Hair
diverge next, opt for the simplest explanation
Limbs Time
(parsimony).
Jaws
6 Draw an arrow alongside the tree to indicate the How to draw a
direction of time from the past to the present. phylogenetic tree
Time is usually measured in mya, zero being at Watch the video and
the tips of the branches. FIGURE 8.10 The tree is a set of hypotheses. draw along with the
host.
Mutation rate
In the absence of external influences, such as ionising radiation and chemical mutagens, a baseline
rate of mutation occurs naturally in DNA. If mutations cause a change in the structure or function
of the proteins that are encoded by the DNA, they may affect whether those proteins are passed to
the next generation, and they will become either more or less common in subsequent generations.
In many cases, mutations arise in non-coding regions, or may change a codon to one that encodes
the same amino acid as before, resulting in a neutral mutation. The frequency of new mutations in a
single gene or organism over time is fairly constant within a species and is called the mutation rate.
When comparing the genomes of two species, the mutation rate can be used as a molecular clock
to estimate at what point in time those species diverged from a common ancestor. For humans, the
mutation rate is estimated to be approximately 10–8 (changed nucleotides) per nucleotide base pair
per generation.
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or conserved, while other traits around it may evolve. Two distantly related species may share very
similar protein sequences for proteins whose function is much the same in those species, such as the
histone proteins.
Mutations that arise over time may alter a protein’s function, usually making it less suited to its
function. If a point mutation results in the loss of an amino acid that is essential for the protein’s
function, the mutation may not be preserved. Protein sequences can be compared across species,
and conserved amino acids can be identified. This is another line of enquiry when working out the
evolutionary relationships between different species.
Occasionally, mutations may arise that change an encoded amino acid to one with a very similar
charge and shape. Thus, the protein is still essentially conserved, as the substituted amino acid will
allow the protein to have the same function.
Proteins consist of long chains of amino acids, and each protein differs in the number, type and
sequence of its amino acids. The number of amino acid differences in the same protein in different
species is used to determine the relationship between species. A small number of differences
indicates a recent divergence from a common ancestor. A large number of differences indicates
a more distant evolutionary relationship. For example, the differences in sequence of the 146
amino acids that make up the blood protein haemoglobin are an indicator of the closeness of the
relationships between certain primates, as shown in Table 8.3. These comparisons indicate that
chimps and gorillas are the nearest living relatives to humans.
TABLE 8.3 Differences in the amino acid sequence of haemoglobin between humans and other primates
Key concept
Comparative genomics utilises biotechnology to study the genome of a species and to compare
the genomes of different species. Relationships between species can be displayed using
phylogenetic trees.
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5 Legless lizards and snakes are both legless; however, legless lizards are more closely related
to other species of lizards than they are to snakes. Use the image below to answer the
following questions.
Geckos
No limbs
Ancestral lizard Snakes
(with limbs)
Iguanas
Monitor
lizard
No limbs
Legless
lizard
a Name the animal that is most closely related to the legless lizard.
b Which animals are in the same clade as geckos?
c Draw the same phylogenetic tree, representing the same evolutionary relationships,
using a different style of tree.
CREATING
6 Construct a phylogenetic tree for the plant species found in the table below. You do not
have to use all of the features listed.
VASCULAR TISSUE SEEDS CONES SPORES TRUE FLOWERS
(XYLEM AND ROOTS AND FRUITS
PHLOEM)
Bryophyta – – – Yes – –
(e.g. mosses)
Filicinophyta Yes – – Yes Yes –
(e.g. ferns)
Coniferophyta Yes Yes Yes – Yes –
(e.g. pine trees)
Angiospermophyta Yes Yes – – Yes Yes
(e.g. roses)
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snemelClecraM/moc.kcotsrettuhS
from fossils. Only a very small percentage of
organisms leave fossilised remains. Many fossils
are destroyed by natural processes such as
weathering and erosion. Even so, fossils show
that there has been a clear change over time
from simple to very complex organisms, which is
evidence for evolution. FIGURE 8.12 An immaculately preserved fossil of
the extinct fish Ceratoichthys: a rare example of a
complete fossilised skeleton
Fossilisation
The process of fossilisation requires very specific, and rare, conditions. The remains of the
vast majority of long-extinct animals may never be found because they have been destroyed.
Consequently, the fossil record is incomplete and biased toward organisms that lend themselves
more easily to fossilisation. To become a fossil, organic matter needs to quickly be deposited and
covered in sediments, creating an environment that lacks oxygen, preventing decomposition. Plant
and animal remains can be preserved if they are covered in waterborne mud, sand or clay, depriving
the remains of oxygen, as can happen in the beds of lakes and rivers or in calcium-rich sea beds. In
many fossils, minerals from the sediments have replaced the natural bone or shell material, making
the remains harder and more likely to fossilise. This type of fossilisation is called mineralisation.
Fossils can form when organisms are covered with sedimentary material, such as mud, silt or
sand, generally carried by rivers and streams and deposited. These materials are consolidated to form
sedimentary rock. This overlying sedimentary material protects organic matter from scavengers and
also slows its decay long enough for it to fossilise. The resulting fossils generally only contain the hard
parts of organisms (which are slow to decay), but on rare occasions they can include more delicate
tissue such as feathers. Fossils of this type are not found in volcanic rocks, because molten lava
solidifies at about 1000°C, which is hot enough to burn any organic material; however, they can be
found in sedimentary layers of eroded volcanic ash. Metamorphic rock does not usually bear fossils,
because the pressure and heat of metamorphism generally (although not always) destroys any trace
of fossils.
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Thin tissue, such as leaves and muscle, is sometimes preserved as films or impressions left in the
rock. Fossils are also formed when soft material, such as volcanic ash, fills an impression, or when
minerals later form in a pocket in sedimentary rock left by a decomposed organism, which can result
in fossils composed of opal. A 3.8-million-year-old set of footprints from a family of early humans,
including children, has been preserved in this way in the Afar Triangle region of Africa. Dinosaur
footprints can also be found in sandstone and mudstone.
There are several other ways a fossil can form. It can form as a result of freezing and subsequent
dehydration. Plants are also quite commonly fossilised. The original plant material may be partly
dissolved and some tissue replaced with dissolved salts, which petrify the material (i.e. replace it
with rock). Entire tree trunks have been preserved by petrification in fossilised forests in Arizona and
Antarctica. Fossilisation can tell us a great deal about past life and how it differs from what we see in Fossil ‘platypus’ jaw
found
the world today. But in order for this to make any sense, we need to calculate the age of the fossils. Read about an ancient
This can be done using dating techniques. Australian monotreme
NOITACILPPA
South Wales. At more than 100 million years old, this is one of Australia’s most ancient mammal
fossils. It is a small jaw with three teeth beautifully preserved in translucent opal. The tiny
details of the root and nerve canals can all be seen.
Principle of superposition
Fossils found in rocks lower down in the earth are older than fossils found closer to the surface
(unless folding has occurred). The principle of superposition is fundamental to the interpretation of
Earth’s history, because at any one location it indicates the relative ages of the rock layers and the
fossils within them. The basic principle is that the oldest rock layer is found at the bottom of the rock,
with each consecutive layer above being relatively younger.
Youngest
Youngest Youngest
Oldest Oldest
Oldest
Youngest Youngest
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Because fossils can be dated, the sequence of changes from the very earliest life to the present
can be observed. The layers of rock in an area being surveyed form a profile. Each layer of rock in a
profile is known as a stratum (plural strata). The type of rock is often sedimentary but can be volcanic
The principle of
superposition in origin. Volcanic ash or volcanic rock that has been eroded is sometimes compacted to form a special
Examine the cliffs and type of sedimentary rock that can be dated using radiometric dating. Strata are arranged in the order
work out which layers
were youngest and in which they were deposited, with the oldest layers being at the bottom unless they have shifted due
which were oldest. to geological processes. Knowing the date of one layer can help position a strata in geologic history.
Dating fossils according to the strata in which they are found is a relative dating method. It only enables
palaeontologists to determine whether one fossil is older or younger than another fossil in a different
stratum. Absolute dating tells the actual age of a fossil. Nearly all absolute dating methods utilise
radioactive elements that occur naturally in the minerals or organic matter found in the fossil. Dating is
discussed in more detail on page 266.
FIGURE 8.14 A reconstructed model of the bird-like FIGURE 8.15 Cast of Archaeopteryx
dinosaur Archaeopteryx, an example of a transitional lithographica. The presence of feathers can
form between unfeathered dinosaurs and modern birds be seen clearly in the fossilised specimen.
The evolution of the horse is a good example of how the fossil record can be used as evidence
for evolution. Fossils reveal how changes in ancestral species led to the modern horse. Our
understanding of the evolution of horse feet is derived from a scattered sampling of horse fossils from
within the multibranched horse evolutionary tree. These fossil organisms represent branches on the
tree and not a direct line of descent leading to modern horses. However, Figure 8.16 clearly shows
the transitional stages whereby the four-toed foot of Hyracotherium, otherwise known as Eohippus,
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Parahippus
Miohippus
gave rise to the single-toed foot of Equus. The transitional forms predicted by evolution were actually
found to have existed.
Scientists have long hypothesised about the changes in horse species over time that are evident
from the fossil record. The first horses were small, agile herbivores, well suited to the dense forest
and soft terrain of their environment. Their multi-toed appendages distributed their body weight,
preventing them from sinking too much into the soft ground, and their small size enabled them to
duck and weave around closely positioned trees.
Horse anatomy and size changed as the environment changed. A cooler, dryer climate resulted
in fewer trees and more grasslands, and the ground became harder. Anatomical changes in emerging
species of horses included a reduced number of ‘toes’, which allowed them to manoeuvre efficiently
and escape predators (to whom they were now more visible) and ‘cheek-teeth’ (molars), which
enabled them to chew the tough grass that had become their food. Evolution continued, partly due
to the mechanism of natural selection. Larger horses with better-developed molars had a survival
advantage. The selective pressures of the environment meant that those horses would have been
more likely to survive and pass their well-developed molars and fewer, shorter toes on to offspring.
Traits that give individuals in a population a better chance of surviving selective pressures make them
fitter than other individuals, so they are more likely to pass their alleles to the next generation.
Equus, a genus including zebras, donkeys, modern domestic horses and relatively recent fossil
horses, has a taller body, longer legs and longer, squarer teeth than earlier horses. The changes
depicted in Figure 8.16 occurred over an extended period of time – around 55 million years.
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There is always bias in the fossil record. Given the specific requirements for fossilisation and thus
the limited nature of the remains that can be fossilised, there will always be chapters missing from
the story. Even with this bias in the fossil record, it is possible to observe many examples of gradual
change over time in organisms as their shape or size transitioned from one form to another. In other
cases, no such gradual transition is evident – the changes seem sudden and inexplicable and the
fossil record gives the impression of a burst of evolutionary speed because of what appears to be a
gap. Such apparent gaps may be explained by aspects of two theories about evolutionary patterns:
gradualism and punctuated equilibrium.
Gradualism
The concept of gradualism assumes that evolution occurs as a steady, slow divergence of lineages
(ancestral tree branches) at an even pace. Gradualism states that apparently sudden bursts of
evolution implied by the fossil record are not a real indication of an evolutionary history, but an
illusion of the fossil record. Evolution only appears as a burst because of the absence of sediments
containing fossils that document such a transition, or perhaps a change in conditions that made
fossilisation impossible. Even if a small section of potentially fossil-bearing sediments were absent,
this may account for fossils missing from millions of years in the fossil record. Were this section of
strata still present, gradualism proposes, the fossils within it would show a divergence pattern that was
slow, even and steady, in other words, gradual.
Punctuated equilibrium
In contrast to gradualism, the theory of punctuated equilibrium states that the apparent bursts of
evolution are not an illusion, but real. It states that species remain fairly stable for long periods of time,
but may swiftly change to a new species, for example, in response to rapid changes in the species’
environment. Like gradualism, punctuated equilibrium accepts the existence of transitional forms
between species, but over such brief periods that they were not preserved as fossils. Punctuated
equilibrium proposes that there have been successive periods of stasis, each followed by a period of
rapid change in a subset of the population.
Both gradualism and punctuated equilibrium are compatible with the theory of natural selection,
and there appear to be examples of both in the fossil record. Whether there is relatively sudden or
more gradual evolution could be expected to be related to whether change in the environment was
sudden or gradual.
Key concept
Transitional forms exhibit common traits found in both the ancestral form and the more
modern species. They give us evidence for evolution of major groups, documenting change over
time on a broad scale.
The law of
superposition Comparative dating
Read about the law of Comparative dating (also called relative dating) is used to determine the age of a rock, or a fossil
superposition and watch
the animation that contained in the rock, relative to other rocks or fossils found nearby. This approach to dating relies on
explains it. our understanding of how sedimentary rock is formed (see page 262).
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Sedimentary rock is composed of sediment: weathered material from the Earth’s surface (such
as gravels, silts, sands and muds) that have been transported by water and deposited in river beds,
flood plains and sea floors. Sediment transport and deposition is an ongoing process; it has been
continuously occurring on Earth for billions of years and can still be observed today. Over time, these
deposited sediments form defined layers that consolidate into sequences of sedimentary rock. As
discussed earlier, these sequenced layers are called strata, and a section showing successive layers
of sedimentary deposition is called a stratification. Strata are deposited in a time sequence, with
the oldest on the bottom and the youngest on the top, assuming natural processes like tectonic
movement haven’t twisted or inverted the layers. Palaeontologists assign relative ages to fossils based
on the strata in which they are found. While this technique can’t give an age in years, the sequence of
the fossils can be deduced.
Absolute dating
Absolute dating refers to any technique that assigns a numerical age in years to a fossil or rock.
There are three main types of absolute dating: radiometric dating, electron spin resonance and
luminescence. Unlike comparative dating, which is based on assumptions about the sequence of strata
(layers of rock), absolute dating is based on physical or chemical properties of materials in the rock.
Radiometric dating
The most common method of absolute dating is radiometric dating, which uses the known rates
of decay of naturally occurring radioactive isotopes present in a rock or fossil. The various isotopes
of an element have the same atomic number (the same number of protons) but a different atomic
mass (different numbers of neutrons). For example, carbon has three natural isotopes: carbon-12,
carbon-13 and carbon-14. Carbon-12 (12 C) has 6 protons and 6 neutrons in each nucleus, and
carbon-14 (14 C) has 6 protons and 8 neutrons. Some isotopes have an unstable nucleus that emits
energy in the form of radioactivity (alpha, beta or gamma rays) at a measurable rate. The half-life of an
isotope is the time taken for half of the radioactive nuclei in an initial sample to decay.
Carbon-14 is a radioactive isotope that breaks down at a known rate to produce nitrogen-14
(14N) (Figure 8.17). This measurable rate of decay is the basis of carbon dating.
50
fo
p
en
ra
ti
so 25% parent isotope
to
pe
a to
25 ms 12.5% parent isotope
( ca
r bo
n- 1
4)
0
0 1 2 3
Number of half-lives of carbon-14 elapsed
Using the half-life of carbon-14 (5730 years), we can determine the age of the sample: in other
words, the time taken for the original amount to decay to the present amount. The percentage of
carbon-14 remaining compared with that of atmospheric carbon-14 can be converted into calendar
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years. However, data from tree rings show that the amount of carbon-14 in the atmosphere can
change with time. For this reason, the time calculated from carbon dating is usually expressed as
± x years.
The older the object, the greater the margin of error. Carbon dating is thought to be accurate for
samples up to about 12 000 years old. After this time, it is difficult to measure the level of carbon-14
accurately; instead, other radioisotopes, such as potassium-40 (which decays into argon), are used
(Table 8.4).
TABLE 8.4 Half-life and product of decay of some elements used in radiometric dating
Carbon-14 dating is not always used on fossils for two main reasons: (i) in most cases fossils
have been mineralised and the organic (carbon-containing) tissue has been chemically altered or
replaced, and (ii) the process of fossilisation generally takes longer to occur than the maximum age of
accuracy for carbon-14. However, by determining the various radioactive isotopes present in a sample
containing a fossil, an age in years can be estimated for the sample and the fossil.
Key concept
While not complete, the fossil record provides evidence of evolution in transitional fossil forms.
Applying the law of superposition (comparative dating) and using absolute dating techniques
contribute to our understanding of the fossil record.
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Embryology
Embryology is the study of the anatomy of embryos and how they develop over time until the adult
stage. Comparative embryology is used to establish evolutionary relationships and common ancestry
on the basis of the similarities and differences in anatomy and development between embryos of
different species. It is thought that the longer embryos remain structurally similar during development,
the more closely related they are. For example, all members of the phylum Chordata have, at some
stage of their development, a dorsal notochord (a solid tissue running along the back), pharyngeal
slits (which turn into gill slits in fish), a dorsal nerve cord and a tail that extends past the anus. The
embryos of the different vertebrates are very similar and show features that are not present in
adults. This suggests that these vertebrates evolved from a common aquatic ancestor, such as the
crossopterygian fish (Figure 8.19, page 270).
Sea squirts are the most unlikely members of this phylum – the adults look more like marine
invertebrates than the other vertebrates to which they are more closely related (Figure 8.18a). Sea
squirt larvae, however, have the requisite characteristics for classification as being closely related to
vertebrates, including a notochord (Figure 8.18b). Adult vertebrates have lost the notochord and it has
been replaced with vertebrae.
a Inhalent opening b
(mouth)
Exhalent
opening Pharyngeal
slit
Dorsal nerve
Test
Mouth tube
(hard ‘skin’)
Notochord Post-anal tail
Atrial
Perforated
cavity
pharynx
Anus
Heart
Intestine
Stomach
Gonad Pharynx
Segmental muscle
Atrium Intestine blocks (myotomes)
FIGURE 8.18 a The adult sea squirt shows few characteristics of chordates; b the free-swimming larva of the sea
squirt, however, shows the characteristic features of chordates, revealing an evolutionary connection.
Key concept
Comparative embryology is the study of the similarities and differences between embryos of
different taxa in order to establish evolutionary relationships.
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FIGURE 8.19 Similarities between chordate embryos suggest a common aquatic ancestor.
Lizard
Frog
Bird
Humerus
Humerus
Humerus
Ulna Radius
Ulna Radius
Ulna Radius
1 Carpal Carpal
Carpal
2 1
1
3
2
4 3
5 3
5 4
2
Humerus
Humerus Ulna
Radius
Carpal
Humerus
Humerus 1
Ulna
Radius
Radius
Ulna
Carpal
Ulna
Radius 5
Carpal
5
4 1
1
4
2
Carpal
5 2
4 3 Bat
1 3
3
Human
2 2
5
3 Whale
4
Cat
FIGURE 8.20 The principle of homologous structures is illustrated by the adaptive radiation of the forelimb of a selection of vertebrates.
In each group it shows the basic pentadactyl pattern, but it has been modified for different uses.
structures in buds, and others as defensive spines or fleshy water stores. The plants in Figure 8.21
(page 272) demonstrate features that have been derived from the same basic structure, but now
have different forms that serve different functions. In other examples, homologous structures can share
the same function. The environment can influence the form and the use of homologous structures.
Homologous structures can be used to infer phylogenetic (i.e. evolutionary) relationships,
because only organisms with a common ancestor are likely to have structures with the same basic
arrangement.
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a bb
gnotapmajaynap/moc.kcotsrettuhS
rtijnawK/moc.kcotsrettuhS
FIGURE 8.21 Homologous structures derived from leaves: a the spines of a cactus; and b the bracts of Heliconia
Analogous structures
Analogous structures are features of organisms that have the same function but a different basic
structures that evolved independently. The eyes of octopuses and vertebrates are remarkably similar,
even down to fine points of detail, and an observer could conclude that they are homologous
structures (Figure 8.22, page 274). However, in the vertebrate eye, the nerve fibres lie in front of the
sensory cells of the retina, whereas in the octopus eye they lie behind them. Because of this, the
vertebrate eye has a blind spot where the optic nerve emerges from it, whereas the octopus eye lacks
a blind spot. The developmental process is different, which indicates that they are the products of two
distinct lines of evolution. Bat and insect wings are another example of analogous structures.
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YCARETIL CIFITNEICS
Giant prehistoric ‘terror birds’ looked so fierce that many palaeontologists assumed they
were terrifying predators, but new research finds that the supposed carnivores were probably
herbivores.
The terror bird, aka Gastornis, grew to nearly 1.5 metres tall. It lived between 55 and 40 mya
in what is now Europe and possessed a huge, sharp beak.
‘The terror bird was thought to have used its huge beak to grab and break the neck of its
prey, which is supported by biomechanical modelling of its bite force,’ says Professor Thomas
Tütken from the University of Bonn, who led the research.
‘It lived after the dinosaurs became extinct and at a time when mammals were at an early
stage of evolution and relatively small; thus, the terror bird was thought to have been a top
predator at that time on land.’
Wrong, according to the latest findings, presented by Tütken and his team at the
Goldschmidt conference in Florence this week.
An early clue came by way of footprints likely left behind by an American cousin of
Gastornis. The footprints do not show imprints of sharp claws, which would have been expected
as tools to grapple prey. Today’s raptors, for example, sport such sharp claws.
Another clue is more obvious – the bird’s hefty size and build. Can you imagine Sesame
Street’s Big Bird (with a big beak) running swiftly after prey? All of that bulk would not make
for a very swift hunter. Some researchers theorised that terror birds ambushed prey, but even
that seems pretty far-fetched.
To further explore the possibilities, Tütken and colleagues took a geochemical approach.
They analysed the fossilised bones of the birds, focusing on calcium isotope composition.
Isotopes are atoms of the same element with different numbers of neutrons.
In prior experiments, the scientists determined that the calcium isotopic composition
becomes ‘lighter’ as it passes through the food chain. They tested the method first with
herbivorous and carnivorous dinosaurs – including top predator T. rex – as well as mammals
living today. For this latest study, they applied the method to terror bird bones housed at the
Geiseltal collection at Martin Luther University in Halle.
They discovered that the calcium isotope compositions of terror bird bones are similar to
those of herbivorous mammals and dinosaurs, and not to carnivorous ones.
‘Tooth enamel preserves original geochemical signatures much better than bone, but since
Gastornis didn’t have any teeth, we’ve had to work with their bones to do our calcium isotope
assay,’ Tütken explains.
As for many scientific puzzles, the case isn’t completely closed just yet.
‘Because calcium is a major proportion of bone – around 40% by weight – its composition
is unlikely to have been affected much by fossilisation,’ he says.
‘However, we want to be absolutely confident in our findings by analysing known
herbivores and carnivores using fossilised bone from the same site and the same time period.
This will give us an appropriate reference frame for the terror bird values.’
Even if the food was just plant based, it had to have been large and tough, given the
impressive beaks the birds evolved.
Viegas, J. (2013) ‘‘Terror bird’ was scary-looking vegetarian’, Discovery News online, 29 August 2013.
Questions
1 Suggest why it had been assumed that Gastornis was a predator, and what evidence may
have pointed away from this before the so-called ‘geochemical approach’.
2 Outline the reason for Tütken’s caution in applying this geochemical analysis to fossil birds.
3 Suggest an alternative reason for the apparent absence of raptor-like toe claws on
Gastornis .
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a b
segamiretipuJ/moc.sotohP
FIGURE 8.22 a Octopus eyes and b human eyes are solutions to the same problem with similar adaptations, even
though octopuses and humans are not closely related. An important control gene for building eyes, however,
belonged to a very ancient common ancestor.
Key concept
Comparative anatomy involves comparing the morphological features of different species.
Morphological features include homologous structures (same structure but different
functions), vestigial homologous structures (same structure but no longer used) and analogous
structures (same function but different structures).
CASE
STUDY
Dr Erich Fitzgerald and the evolution of baleen whales
Dr Erich Fitzgerald is Senior Curator of internationally has been a huge benefit to
Vertebrate Palaeontology at Museum palaeontology; it means we are forced to
Victoria. Erich researches the evolutionary access a wider range of data in order to get
history of marine mammals. To undertake an accurate evolutionary picture of what
his research, he uses a combination of field we are looking at. Computers can deal
work and interpretation of the fossils and with large data sets of measurements and
animal remains that are housed in museums characteristics and identify patterns that
around the world. Erich seeks to answer could easily be otherwise overlooked; as such,
questions on what drives the evolution and computers are as important to palaeontology
extinction of marine mammals. as a hammer and chisel.’
His research would not be possible Erich’s research has unveiled unexpected
without advances in information technology, results. ‘For a long time, there was a gap in
such as computational phylogenetic analysis. our knowledge of the relationships between
‘To get to the bottom of the evolutionary the toothed ancestors of modern whales –
history of organisms, you need to place Archaeocetes – and living baleen whales.
them in an evolutionary context. To do How on earth does such a specialised feeding
that, we subject fossils and living species structure like baleen evolve? For some time,
to phylogenetic analysis, computationally there was the idea that Archaeocetes probably
estimating the evolutionary “tree”’ based closed their jaw and used their teeth like a
on large data sets of characteristics across sieve, like some seals do today.’
large numbers of taxa. We then use different Extensive data sets, including
programs to interrogate that tree for other measurements from the skulls, teeth and
patterns to test our hypothesis. other bones of fossil and contemporary
‘Using computers as a way of capturing animals, allow for the use of computational
data, imagery, 3D and CT scanners and phylogenetics, showing some surprising
communication between researchers results. ‘Our research points to a complex
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story of “false starts” and “experiments” in 2 Using the example of baleen whales
evolution. It shows whales didn’t have an and their diet, assess and discuss
intermediate stage using both teeth and whether the evolutionary ‘false starts’ WA Museum
WA Museum was
baleen; the evidence suggests the transition and ‘experiments’ that the fossil record closed for four years
between teeth and baleen happened a shows are examples of divergent until November 2020.
different way. The question is now how did evolution . It boasts a merger of
culture and science.
this happen; that’s what I’m trying to solve. 3 Prior to the advent of computer-assisted It promises to be
Understanding the evolution of organisms phylogenetic analysis, estimating somewhere to visit to
is vital. In order to gain any understanding evolutionary relationships of vertebrates see extinct species such
as dinosaurs and newly
of the dynamics of biodiversity, you have was based largely on bone and tooth discovered species.
to understand how it has occurred over the morphology, or shape. Phylogenetic
time scales over which it has evolved.’ analysis now incorporates other elements
in order to develop phylogenetic trees.
Questions Explain how computational technology
1 Account for how our view of current has made the identification of possible
biodiversity is biased if we ignore relationships of fossils and living animals
evolutionary history and the fossil more efficient and rigorous than was
record. previously possible.
esizerT luaP/xipsweN
FIGURE 8.23 Erich Fitzgerald and the fossil skull of the ancestral toothed whale Janjucetus hunderi
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Divergent evolution
Divergence is a pattern of evolution in which differences between groups of organisms accumulate
to a critical point that leads to speciation, the development of a new species. This pattern is usually
the result of the dispersal of a single species to different environments; that is, groups from the same
species become isolated from one another. The isolation stops the gene flow between these separated
populations. The populations may have been separated by physical barriers such as mountains or rivers,
or by other factors such as changes in reproductive timing.
A group of organisms that has a recent common ancestor may have evolved different adaptations
in response to a range of environmental pressures. Homologous structures indicate that there has
been divergent evolution, because new species have the same fundamental structural plan, but the
structures may perform a different function.
Adaptive radiation
As members of the population develop adaptations, by natural selection favouring certain mutations
over successive generations, they may diverge enough to become new species. This process is
referred to as adaptive radiation.
For example, koalas (tree-dwelling herbivores), Tasmanian devils (ground-dwelling carnivores) and
marsupial moles (dune-burrowing insectivores) are related because they have a common marsupial
ancestor (Figure 8.24). However, they show quite different dentition (teeth) that enables them to
consume different diets.
Koalas possess complex molar teeth (suited to chewing eucalyptus leaves) and blades on each
tooth (which help cut the leaves).
Tasmanian devils have four pairs of upper incisors and three pairs of lower incisors that are long
and sharp, suited to tearing meat and crushing bones.
The teeth of marsupial moles are unusual. They are degenerate and bear no resemblance to koala
or Tasmanian devil teeth. The premolar is the largest of the anterior teeth. The incisors and canines
vary in size, but are little more than conical projections, suitable for their insectivorous diet.
a b
c
ediwdlrowstohstoh/kcotsknihT
FIGURE 8.24 Examples of the divergent evolution of marsupials: a koalas, b Tasmanian devils and c marsupial moles evolved from a
common ancestor that probably lived during the Eocene epoch.
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Adaptive radiation occurs particularly when environmental changes trigger the availability of new
resources and environmental niches. A clear example of this can be found in Australia’s fossil record,
which indicates that during the Middle Miocene epoch (approximately 15 mya), dense tropical forests
covered central Australia where the Simpson Desert is now. Forests, lakes and permanent rivers
provided a lush habitat for marsupials, such as giant koala-like possums, shrewish insectivores and
sheep-sized browsers. Flamingos, crocodiles, turtles and dolphins flourished in the waterways. The
range of habitats allowed an extensive radiation of animal species, which adapted to the available
resources and are, therefore, an example of adaptive radiation.
Slowly, the tropical centre of Australia began to dry out during the Pliocene epoch (approximately
5 mya). This brought an end to the tropical climate, which meant that the tropical forests gave way to
broad grasslands. As the tropical forests retreated from central Australia, the animals they once supported
were forced to compete for diminishing resources and became vulnerable to extinction. The large
browsing mammals called diprotodontids (Figure 8.25) and a variety of possums were unable to survive
the reduction in trees and the subsequent limited food availability.
The remnants of the tropical forests and their inhabitants are now confined to Papua New Guinea
and pockets of northern Queensland. The grasslands that replaced the forests provided new habitats
that allowed for adaptive radiation of other Australian mammals: the kangaroos and wallabies.
Didelphimorphia
Monodelphis
Didelphis
Metachirus
Paucituberculata
Rhyncholestes
Caenolestes
Microbiotheria
Dromiciops
Dasyuromorphia
Phascogale
Dasyurus
Sminthopsis
Myrmecobius
Euaustralidelphia
Peramelemorphia
Macrotis
Perameles
Isoodon
8002 noitaroproC latsoP nailartsuA © relsurT reteP :tsitrA
Diprotodontia
Tarsipes
Pseudocheirus
Trichosurus
Macropus
Potorous
Vombatus
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Convergent evolution
Convergent evolution is a pattern that occurs when unrelated organisms evolve similar adaptations
in response to their environment. An example of convergent evolution is provided by anteaters. Many
animals eat ants and white ants (or termites), and they have developed similar structures, even though
they are not closely related.
Modern anteaters include echidnas (which are monotremes), numbats (which are marsupials)
and pangolins (which are placentals) (Figure 8.27). All of these species have an elongated snout that
functions as a smelling and digging device, a long, extendible tongue that can extract ants from
crevices, and powerful claws that are used for digging up ant and termite nests.
The different species of ant-eating mammals have a common ancestor, but not a recent one;
they belong to different orders. They have developed ant-eating adaptations independently and
coincidentally, rather than it being a legacy from their common ancestor. The first mammal-like
animal probably emerged in the Triassic period, around 208 mya.
a b
topm/otohpkcotSi
c
FIGURE 8.27 Ant-eating mammals show convergent evolution in their ant-eating structures: a echidnas (monotremes);
b numbats (marsupials); c pangolins (placentals).
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Key concept
Divergent evolution is when populations of a species differentiate to become separate species
(e.g. different marsupial species). Adaptive radiation is an example of divergent evolution, and
homologous structures provide evidence for this.
Convergent evolution occurs when species that are not closely related independently
develop similar adaptations to their environment (e.g dolphins and sharks). Analogous
structures provide evidence for convergent evolution.
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can be obtained by studying the animals and plants of the past as seen in the fossil record.
Fossilisation is a rare occurrence and requires precisely the right conditions for it to occur.
But how do fossils form and how much information can they reveal to us about organisms that
lived in the past?
Aim
To investigate how fossils are formed and what they can reveal about organisms that lived in the
past
You will need
• 4 fossil samples (e.g. fossilised coral, fossil footprint, trilobite, ammonite, shark’s tooth,
leaf fossil)
• Reference material with information on fossils
• A hand lens (one per group)
What to do
1 For each of the fossils that you have been given, complete as many observations as possible and
record them. Your observations should include the following:
• Sketch of fossil
• Name of organism
• Phylum or classification
• Location or habitat where fossil was found
• Type of rock in which fossil was found.
2 Examine the individual fossil specimens carefully and attempt to classify them into the phylum (or
class or order if possible) to which they belong.
3 Using a hand lens, examine the rock surrounding the fossil specimen and try to identify the type
of material it is. Check to see if the information provided with the fossils gives you any insight
into what the material might be.
4 Sketch the fossil specimen and note which parts have been preserved and which have not.
What did you discover?
1 Deduce and explain how each of the fossils has been preserved. Compare the material the
fossil is made of with the original living tissue. Explain how the two are different and how the
composition of the fossil may have come about.
2 Compare the fossilised specimens with similar species that exist today, and identify which
parts have been preserved and which parts have disappeared. Explain why this would be the
case.
3 Explain how much information scientists can gain about an animal from a single fossilised
tooth. Investigate this topic on the Internet, using the example of Carcharodon megalodon (an
extinct shark) as the focus of your research. Find out why this particular example of animal
reconstruction has a controversial history.
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NOITAGITSEVNI
this seemed to suggest that the structures had developed from a common ancestral form. Is this
explanation of the similarities in structures as obvious as he suggested?
Aim
To investigate homologous structures in the pentadactyl limb of various vertebrates
You will need
Four examples of vertebrate pentadactyl limb. These could be actual skeletons, models, photographs
or illustrations of the limbs (e.g. frog, bird, dolphin, dog, cat).
Forelimb (arm) Hindlimb (leg)
Elbow Knee
Metacarpals Metatarsals
Phalanges Phalanges Foot
Hand
Digits (fingers) 1 Digits (toes)
5
2 3 4
What to do
For each of the samples that you have been given, complete as many observations as possible and note
them in your results.
1 Carefully examine the forelimbs and hind limbs of the generalised pentadactyl limb (Figure 8.28)
and of each specimen, and draw a quick sketch of each in your results section. Make a table and
record the number of bones that make up each section of the forelimbs and another table for the
hindlimbs. Include the hand/foot area, wrist/ankle area, forearm/shin area, and the upper arm/
thigh area.
2 Describe any other differences that you may have observed for each specimen when it was
compared to the generalised diagram of a pentadactyl limb.
Results
Your results should include:
• Name of organism
• Sketch of forelimb
• Sketch of hindlimb
• Summary table of counts
• Descriptions of differences
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Discussion
1 Analyse how the numbers of bones in each area of your specimens compares with those of the
generalised pentadactyl limb.
2 Other than bone numbers, explain what other differences you find in the limb structures
compared with the generalised pentadactyl limb.
3 Suggest and explain reasons for the differences noted for each particular animal.
4 Suggest what advantages these differences might offer to the species concerned.
5 Identify the basic similarities in the different limbs and explain why these might be found in so
many different species, even though they may occupy a variety of different habitats.
Discussion
Write a summary of your analysis. What is your conclusion?
Taking it further
Use the Internet to examine the limb structures of other animals to see how they compare with the
ones you have examined in this activity. Are you able to see how closely animals are related to one
another by their similarities?
In this investigation, you will analyse various hominid/primate skulls. This is an excellent opportunity
to explore various anatomical adaptations that have diverged in hominids over the course of their
evolution.
Time requirement
45 minutes
Materials
• Pan troglodytes (chimpanzee) (Modern)
• Gorilla gorilla (gorilla) (Modern)
• Homo sapiens (human) (Modern)
• Homo neanderthalensis (Neanderthal human) (120 000–30 000 years ago)
• Homo erectus (upright human) (2.0 mya)
• Australopithecus boisei (2.3–1.2 mya)
• Australopithecus afarensis (‘Lucy’) (4.0 mya)
• Tape measure (in millimetres)
Risks
WHAT ARE THE RISKS IN THIS INVESTIGATION? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
Skulls may have sharp edges. Handle with care and do not run fingers over skull teeth.
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2 Examine above the orbital and determine whether a supraorbital (brow ridge) is present. If so, see
whether the brow ridge is continuous or divided in the middle.
3 Measure the width of the braincase at the widest point. Make all measurements in millimetres.
4 Look for evidence of a sagittal crest running lengthwise along the midline of the top of the skull.
Identify whether it is prominent, present or absent.
5 Measure the distance between the front teeth and the front ridge of the foramen magnum.
6 Examine behind the ear of the skull and determine whether the mastoid process is fairly flat or
noticeably protruding.
7 Draw up a copy of Table 8.5 and record the results of your observations in it.
Procedure – Examining the facial structure
1 Position the skull so that it is facing you. Examine the nasal bones. Identify whether they are flat
or protruding.
2 Measure the maximum breadth (width) of the nasal opening.
3 Measure the maximum height of the nasal opening.
4 Starting at the outside of the upper back molars, measure the width of the maxilla (the upper jaw).
5 The bizygomatic breadth is the width of the face from the widest part of one zygomatic arch
(cheek bone) to the widest part of the other zygomatic arch. Measure this distance.
6 Draw up a copy of Table 8.6 and record the results of your observations in it.
Procedure – Examining the dentition (teeth)
1 Examine the dental arcade (the shape made by the rows of teeth in the upper jaw). Observe the
teeth towards the back and identify whether the teeth on each side of the jaw are parallel or
diverging.
2 Reposition the skull so that you are viewing it from the side. Examine the incisors and identify
whether they are vertical or angled forward.
3 Measure the width of the incisors on the left side of the jaw and then measure that of the incisors
on the right side of the jaw. Add the width of all incisors together to get the combined width.
4 Examine the maxilla (upper jaw) and mandible (lower jaw) together. Identify whether the canine
teeth project above or below the chewing surfaces of the other teeth.
5 See if you can identify the canine diastema (gap on the medial side of the canine – i.e. on the side
nearer the middle of the body).
6 Measure from the back of the last molar to the front of the first premolar on the left side of the
jaw. This will give you a measurement for the chewing surface of the teeth.
7 Draw up a copy of Table 8.7 and record the results of your observations in it.
Results
TABLE 8.5 Examining the braincase
SAGITTAL FORAMEN
SPECIMEN FOREHEAD BROW RIDGE BRAINCASE MASTOID
CREST MAGNUM
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Based on the data you have collected, draw a sketch of one characteristic (e.g. presence of brow ridge)
for each specimen, with the sketches arranged in order from great apes to modern humans, so that
you can see any trends over evolutionary time.
Discussion
1 The canine teeth have drastically reduced in size from great apes to modern humans. Explain why
this might be.
2 Explain why the face has become progressively flatter over the evolution of hominids.
3 Describe how the position of the foramen magnum relates to body posture and locomotion.
4 Certain areas of the braincase enlarged before others in our evolution. Describe how the various
areas have enlarged over the period of our evolution.
5 What traits differentiate modern apes and modern humans?
6 Using your measurements and the facial features you observed as evidence, are modern humans
or modern apes more closely related to extinct hominids?
7 Imagine you found the remains of a skull that only contained the mandible. Would that be enough
evidence to determine whether it belonged to a modern human, an early hominid, or an ape?
Explain your answer.
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CHAPTER 8 SUMMARY WS
• Life has existed on Earth for approximately • Comparative genomics and comparative Chapter 8
Activity sheet
3.5 billion years and has changed over time. biochemistry are possible due to
Some changes in species are rapid and bioinformatics, which is the computer
occur after a period of stasis (punctuated analysis of large volumes of biological data.
equilibrium). Most changes take place over • Evolutionary relationships between groups
long periods of time (gradualism). can be represented using phylogenetic
• Darwin’s theory of evolution by natural trees. Analysis of phylogenetic trees gives
selection replaced Lamarck’s theory of us insight into how closely related species
transmutation of species. are.
• Evidence for evolution comes from five main • The fossil record provides evidence of
areas of study: biogeography, comparative extinct organisms. That change has occurred
genomics, the fossil record, comparative in species and in groups of species over long
embryology and comparative anatomy. periods of time is evidenced by fossils, as
• The positions of landmasses are in constant well as by the progression of simple to more
change. Geologic and fossil evidence tell complex organisms in the fossil record.
us that 200 mya a single supercontinent – • Comparative dating is used to determine the
Pangaea – existed, which later separated into relative age of a rock or fossil. Absolute (or
smaller landmasses. chronometric) dating provides the actual
• Biogeography is the study of the distribution (approximate) age of a fossil or rock.
of organisms and ecosystems across the • Comparative anatomy is used to establish
world and through geologic time. evolutionary relationships on the basis
• Different organisms share molecular and of structural similarities and differences,
structural homologies. The DNA present including the comparative study of
in all organisms indicates that modern embryos.
life descended from a single population of • Evolution can be classified as convergent
organisms. or divergent. Analogous structures provide
• Comparative genomics provides evidence some evidence for convergent evolution,
for the theory of evolution and helps us map and homologous structures provide some
the degree of species relatedness. evidence for divergent evolution.
CHAPTER 8 GLOSSARY
Absolute dating The process of determining the challenges or new opportunities; it is a type of
age of rocks and the fossils they contain on the divergent evolution
basis of the physical or chemical properties of
Analogous structure Features of organisms
materials in the rock that have the same function but not the same
Adaptation An evolved structural, structure
physiological or behavioural characteristic of an
Ancestor A species from which other species
organism that increases its chances of survival
have evolved
and reproduction in a particular environment
Biogeography The study of the distributions of
Adaptive radiation The process by which
a species rapidly diversifies into many taxa living things over a geographical area and how
those distributions have changed over geologic
with differing adaptations; it can be triggered
time
by many factors, such as the emergence of
reproductive barriers within a population, Bioinformatics The digital storage, retrieval,
changes in the availability of resources, new organisation and analysis of a large volume of
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biological data; bioinformatics has dramatically different from the common ancestor and from
increased the size, accuracy and scope of data one another, giving rise to new species
sets, such as those needed for comparative DNA–DNA hybridisation A method used to
genomics analyse relatedness; similarities in the base-
Clade A group of organisms that includes all pairing of DNA strands are analysed to show
the descendants of a common ancestor and the evolutionary links between organisms
ancestor itself; for example, birds, dinosaurs, Embryology The study of the anatomy of
crocodiles and their common ancestor form a embryos and how they develop over time until
clade the adult stage
Common ancestor An ancestor that is shared Eon A major division of geologic time that is
by different species itself divided into eras
Comparative anatomy The study of the Epoch A division of geologic time (periods)
similarities and differences in structure between that is marked by one or more significant events
different organisms; a larger number of similar
Era A division of geologic time (a subdivision
features indicates a more recent common
of eons) that is itself divided into periods
ancestor
Evolution The process of cumulative, gradual,
Comparative biochemistry Analysis of the
inheritable change in a population of organisms
similarities and differences in the cellular
that occurs over many generations and a
chemistry of different species; it particularly
relatively long time
includes the study of proteins (especially
enzymes) and the DNA that encodes them; the Fossil Preserved remains or traces of an
results enable evolutionary biologists to obtain a organism
measure of the relatedness between species Genomics The study of the genome – how
genes interact with one another and the
Comparative dating The process of determining
the age of rocks and their contained fossils environment, and the resultant proteins
relative to one another, allowing an estimation produced; knowledge of an organism’s entire
of ‘oldest to youngest’, without assigning an DNA sequence
actual age in years Gradualism A theoretical model of evolution
that proposes there has been a steady, slow
Comparative genomics A field of biological
research in which scientists use a variety of divergence of lineages, irrespective of gaps in
tools to compare the genome sequences of the fossil record
different species; the more similar in sequence Homologous structure Feature that has the
the genes and genomes of two species are, the same general structure but different functions in
more closely related those species are different organisms
Conserved Refers to DNA or protein sequences Homology The existence of shared ancestry
that have been preserved by natural selection between a pair of structures or between genes
and are still the same or very similar in different Isotope Atoms of an element that have the
species same number of protons but different numbers
Continental drift The relative movement of of neutrons, and therefore different relative
Earth’s continental landmasses, which appear to atomic masses
drift over Earth’s mantle Molecular homology The identification of
Convergent evolution A process whereby shared biomolecular elements – generally genes
unrelated organisms evolve similar adaptations – used to test the closeness of relationships
in response to a similarity in their environments between organisms; it can demonstrate common
ancestry
Divergent evolution A process whereby related
species evolve new traits over time spent living Molecular phylogeny The study of evolutionary
in different habitats, becoming increasingly relationships using comparative genomics
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Understanding
5 The thylacine (marsupial) and the American gray wolf (placental) evolved independently
of each other in widely separated biogeographic locations, but both animals had a similar
appearance and occupied similar ecological niches. The similarities between the two organisms
are most likely a result of which evolutionary pattern?
6 Birds and bats both have wings, whereas mice and crocodiles don’t. Explain whether this
means that birds and bats are more closely related to one another than they are to mice and
crocodiles.
7 Forty per cent of the world’s species of fruit flies are found on the islands of the Hawaiian
archipelago.
a Propose a reason why the Hawaiian archipelago might provide a suitable habitat for so
many different species of fruit flies.
b Explain how adaptive radiation may have been involved in the evolution of Hawaiian fruit
flies.
8 The sugar glider and the flying squirrel have a similar appearance. Both have a flap of skin
between the forelimbs and hind limbs that enables them to glide from branch to branch. The
flying squirrel is a placental mammal found in the Northern Hemisphere, and the sugar glider is
a marsupial found in Australia.
a Name the process that has resulted in these species having similar features.
b Name and describe the evolutionary pattern that accounts for the similarity of these two
species.
c Suggest how these two animals – one a placental and one a marsupial – would differ in
other ways.
Applying
9 Embryological studies show bird embryos develop a fourth finger and a fifth toe that vanish as
the foetus develops. This vestigial developmental structure is evidence for common descent.
a Explain what this evidence explicitly says about the characteristics of the ancestors of
birds.
b Explain whether you would expect a complete fossil skeleton of a common ancestor
showing this characteristic to have been found.
Analysing
10 New Zealand has no large native land mammals, but has been home to some highly specialised
bird species. Many of these birds have lost the ability to fly: for example, the five species of
Kiwi, which have developed some distinctive features. These features include mammal-like
characteristics, such as a keen sense of smell, bone marrow (which makes bones heavy and
unsuitable for flight) and a pair of functional ovaries in females (most birds have only one
functional ovary), all of which are highly unusual for birds.
a Using the information above, give examples of:
i divergent evolution
ii convergent evolution
iii analogous structures.
b Would molecular homology studies show that the five species are more closely related to
other birds or to mammals?
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Evaluating
11 The hoatzin (Opisthocomus hoazin) is a remarkable bird from South America. It has only one
known fossil ancestor, a 10-million-year-old skull fragment found in Colombia. The age of the
fossil demonstrates that hoatzins were endemic to South America, because the fossil pre-dates
the land bridge between North and South America by 8 million years.
Genetic analysis of the living hoatzin shows it is unique, perhaps because of its extensive
history of geographic isolation, and it has its own suborder. Chicks of the hoatzin show
a characteristic shown in no other living bird: a pair of claws on their wings. A similar
characteristic is seen on the bird-like dinosaur Archaeopteryx, which had three wing claws.
From this data, give an example of each of the following types of evolutionary evidence.
a palaeontology (the fossil record)
b biogeography
c morphology
d genetics
12 The 1861 discovery of the Jurassic-age fossil skeleton of the feathered dinosaurian bird ancestor
Archaeopteryx from Germany was a key moment in the development of Darwinian theory.
The discovery of the pigeon-sized animal was brought to the attention of Charles Darwin, who
commented that ‘hardly any recent discovery shows more forcibly than this how little we as yet
know of the former inhabitants of the world’ (The Origin of Species).
The skeleton of Archaeopteryx clearly shows that it had claws on its forelimbs, well-developed
feathers on its wings (allowing for weak, gliding flight), teeth and a long, bony tail.
a Define transitional form.
b Discuss the limitations of the evidence for the evolutionary relationships between dinosaurs,
Archaeopteryx and birds. Which type of evidence can be used and which types cannot?
Creating
Use the following genetic and morphological data to answer questions 13–15.
Genetic characters
Sequence of portion of chloroplast DNA
Japanese black pine (Pinus thunbergii) T A A T A A A GG AGG - - - - - - GA C T T A TG TC A C
Bhutan white pine (Pinus bhutanica) T A A T A A A GG AGGG A - - - - - - CT T A TG T CGC
Chiapas pine (Pinus chiapensis) T A A T A A A GGA GGG AC T T A GA C T T A TGT C A C
Eastern white pine (Pinus strobus) T A A T A A A GGA GGG AC T T A GA C T T A TGT C A C
Lacebark pine (Pinus bungeana) T A A T A A A GGA GGG AC - TG A - C T T A TGT C A C
Red pine (Pinus resinosa) T A A T A A AGGA GGGA - - - - - - C T T A TGT C A C
Single-leaf pinyon (Pinus monophylla) T A A T A A A G G A G GG A - - - - - - C T T A T G T C A C
Morphological characters
ygolotnoelaP fo muesuM ainrofilaC fo ytisrevinU
13 Construct a phylogenetic tree for the seven pine species, based solely on the morphological
data.
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14 Analyse the genetic sequences for the seven pine species and determine which two are the most
closely related species.
15 Create an argument summarising whether you think comparative genomics or comparative
anatomy (looking at morphological characters) provides more reliable evidence for relatedness,
and why.
Land plants
Vascular plants
Seed plants
Gymnosperms Angiosperms
Cycads
Ferns
~400 mya Ginkgo Conifers
Lycopods
~410 mya Horsetails
~375 mya
~120 mya
Carpel
Flowers
Hornworts
Mosses ~300 mya
Liverworts Seeds
Woody tissue
~420 mya
Cuticle
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4 The phylogenetic tree indicates that: 6 Describe the main features of the forefeet
A seeds evolved after flowers of the various types of horses that have
B woody tissue evolved after xylem and appeared over the past 50 million years.
phloem (4 marks)
C cycads have woody tissue and flowers [Q32c 2018 SCSA]
D cuticle is present in ferns but not in
7 Explain how biologists know about the
mosses.
evolution of the forefeet in horses over the
[Q14 2018 SCSA]
past 50 million years. (4 marks)
5 The phylogenetic tree also indicates that: [Q32d 2018 SCSA]
A angiosperms evolved from mosses and
8 A biologist constructed a phylogenetic tree
ferns
showing the evolutionary relationships
B gymnosperms evolved from
among the Australian species of dung
angiosperms
beetle. Explain how a phylogenetic tree can
C liverworts, hornworts and mosses
represent the evolutionary relationships
evolved from a single related group of
between different species. (4 marks)
plants
D cycads, ginkgos and conifers evolved [Q31e 2019 SCSA]
from a single related group of plants. 9 Indicate the order in which the following
[Q15 2018 SCSA] life forms first evolved: eukaryotic cells,
prokaryotic cells, land plants and marine
The following diagram shows the evolution of
animals. (4 marks)
height and forefeet in modern horses and their
First (oldest):
extinct ancestors over the past 50 million years.
Second:
The digits (‘fingers’) of the forefeet are labelled
Third:
2 to 5. Use the information to answer questions
Fourth:
6 and 7.
[Q34a 2017 SCSA]
3
1.25 m Pliohippus
5
Late Eocene rock
(dates from
35 million years ago)
2 4
3
0.6 m Mesohippus
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9
MECHANISMS OF CHAPTER 9 CONTENT
EVOLUTION AND By the end of this chapter, you will have covered the
following material.
SCIENCE UNDERSTANDING
» mutation is the ultimate source of genetic variation as it
introduces new alleles into a population
» natural selection occurs when selection pressures in the
environment confer a selective advantage on a specific
phenotype to enhance its survival and reproduction; this
results in changes in allele frequency in the gene pool of a
population
» in addition to environmental selection pressures, sexual
selection, mutation, gene flow and genetic drift can
contribute to changes in allele frequency in a population
gene pool
» speciation and macro-evolutionary changes result from an
accumulation of micro-evolutionary changes over time
» selective breeding (artificial selection) through the intentional
reproduction of individuals with desirable characteristics
results in changes in allele frequencies in the gene pools over
time
» differing selection pressures between geographically isolated
populations may lead to allopatric speciation
» populations with reduced genetic diversity face increased risk
of extinction
ATAR Biology Syllabus, Government of Western Australia,
School Curriculum and Standards Authority
nehs xaM/segamI ytteG
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soot presented a new environmental pressure for the moth population. The dark-coloured moths
were better able to evade bird predation than the common white speckled form. Over time, black
moths came to dominate the population.
Since 1950, when clean air legislation was passed in Britain, the situation has been reversing; once
again dark-coloured moths are suffering greater predation on the naturally white tree trunks, and
their presence in the population is less common. Both dark and white forms continue to exist in the
population.
a
a b
b
FIGURE 9.1 The peppered moth, Biston betularia, has a a white speckled typica form and b a dark carbonaria form.
Variation in populations
Variations in populations can be very small, but they are the basis of evolution. As in the
peppered moth example, individuals in any population express a range of different phenotypes. A
population is a group of individuals of the same species that live in the same geographic area and
interbreed to produce fertile offspring. Members of a population have variation in their genotypes
that causes variation in their phenotypes. Variation therefore is based on differences in DNA
sequences, which give rise to different forms of genes (alleles), which in turn result in different
phenotypes.
Evolution relies on genetic variation that is inheritable: it can be passed to the next generation
and under certain circumstances may give an individual an advantage in survival and reproduction,
compared with the rest of the population. In the case of the peppered moth, a mutation in the
genotype produced a dark-coloured form in this population. This dark phenotype conferred a survival
advantage in the changed environment. In a different environment, the same genotypic variation may
give a disadvantage or have no effect at all. Either way, genetic mutation introduces new alleles and,
therefore, additional variation into populations.
Gene pools
Genes are the means of transmitting phenotypes from one generation to another. Many genes can
exist in different forms as alleles, and the characteristics of individuals are determined by the alleles
they inherit. It is this variation in alleles carried by different individuals that leads to most of the
variation in a population. The total collection of alleles within a population is referred to as the gene
pool (see Figure 9.2).
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BB Bb
Bb
BB bb
Bb
Bb bb
bb
Bb
Bb
BB
FIGURE 9.2 The sum of all the alleles found in a population is called the gene pool.
Key concept
Genetic mutations introduce new alleles into populations and are the ultimate source of
variation. The sum total of all alleles present in a population is called the gene pool.
YCARETIL CIFITNEICS
An understanding of evolution and ecology is essential when responding to threats to human
health. For example, the Ebola virus, which has killed more than 11 000 people, has evolved
quickly and is thought to have transferred from bat populations to human populations. Every
transmission of the Ebola virus to a new host represents an opportunity for natural selection
and therefore for evolution of the virus. Some strains have longer chains of transmission, with
more mutations, enabling viruses to discover more fit phenotypes. Phylogenetic analyses
revealed the great extent of evolutionary change that occurred early in the 2014 epidemic in
West Africa, with 73 non-synonymous substitution mutations being found among 78 infected
individuals just from Sierra Leone.
In 2018, an international body formed, known as the International Society for Evolution,
Medicine, and Public Health (ISEMPH). The mission of ISEMPH is ‘to foster communication
among scientists, students, clinicians and public health professionals who want to use
evolutionary insights to improve medical research and practice, and to use studies of human
health and disease to advance evolutionary biology’.
The Tasmanian devil facial tumour disease is another example of ecology and evolution
interacting to play a significant role in the health of a population. Tasmanian devils have been
subject to this infectious and fatal cancer, and the species is under threat of extinction. However,
it has been reported that some Tasmanian devils have developed resistance to the disease.
‘These gene variants would have been around before, but there was no evolutionary
advantage to them being at high frequency,’ says Professor Katherine Belov of the University
of Sydney. ‘Since the arrival of this new disease, the animals without these variants would have
been dying, leading to an increase in the frequency of these protective variants.’
Adapted from Charles L. Nunn, Susan C. Alberts, Craig R. McClain, Steven R. Meshnick, Todd J. Vision, Brian M. Wiegmann,
Allen G. Rodrigo, ‘Linking Evolution, Ecology, and Health’, TriCEM, BioScience, Vol.65, Iss. 8. August 2015, pp 748–749.
Questions
1 Describe an ecological aspect of the Ebola disease.
2 Describe a health aspect of the Ebola disease.
3 Describe an evolutionary aspect of the Ebola disease.
4 Argue that an understanding of all three aspects is crucial in the management of the
disease.
5 Explain how evolution is helping the Tasmanian devil.
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2 Overproduction 3 Selection
Every species tends to Individuals are exposed to a new
produce more individuals selection pressure which selects
than can survive to maturity. some individuals over others to
survive longer and reproduce.
1 Variation 4 Adaptation
The individuals of a Individuals that survive and reproduce
population have many have traits that become more common
characteristics that differ. in the population, the advantageous
allele accumulating over generations.
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Natural selection occurs when selection pressures in the environment confer an advantage
on a specific phenotype and enhance its survival and reproduction; this results in changes in allele
frequencies in the gene pool of a population. Through this process, individuals that have certain
inherited traits are more likely to survive and reproduce at higher rates than other individuals. This
can cause changes in a population’s allele frequencies and therefore is a mechanism for evolution.
Alleles are expressed in phenotypes, also known as traits. If a population possesses variation in
a trait (different alleles for a gene), the population may experience natural selection. An inherited
trait that allows an individual to survive and reproduce is called an adaptation. Depending on
the environmental conditions, a phenotype may confer an advantage or a disadvantage to the
individual, relative to individuals with other phenotypes in the population. If it is an advantage,
then that individual will be more likely to survive and have offspring than individuals with the
other phenotypes, and this will mean that the allele producing the phenotype will have greater
representation in the next generation. If conditions remain the same, the offspring that are carrying
the same allele will also benefit. Over time, the allele will increase in frequency in the population.
Natural selection only acts on the population’s inheritable traits, selecting for beneficial alleles
and thus increasing their frequency in the population, while selecting against deleterious alleles and
thereby decreasing their frequency. Scientists call this process adaptive evolution.
tteZ aroD/moc.kcotsrettuhS
reproduction processes. These processes
include crossing over, independent
assortment, random fertilisation, and
random mating.
FIGURE 9.5 Male seahorse ‘giving birth’ to many offspring. Not all will survive.
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nosI sirhC/moc.kcotsrettuhS
without the advantageous trait. This is an
example of ‘survival of the fittest’. Those
individuals who are more ‘fit’ are better
suited to the environment in which the
population lives.
b
Survival of the
Tasmanian devil
Those who develop
FIGURE 9.7 Thorny devil offspring showing advantageous traits of brown and gold
colouration and large spines
6 Allele frequencies change over generations
Over consecutive generations, the frequency of the advantageous alleles or traits increases. The frequency of the disadvantageous traits
decreases. Over many generations (and usually a relatively long time), an advantageous allele can become fixed; that is, its frequency can
become 100%. In contrast, the disadvantageous allele can become extinct (its frequency can become almost 0%).
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The driving force for adaptive evolutionary change is natural selection. Table 9.2 presents a case
study for a hypothesis about long necks in giraffes being the result of natural selection using the
principles of natural selection. How did giraffes develop such a long neck? If there was an inadequate
supply of food, was this the selective force?
TABLE 9.2 The hypothesis that long necks in giraffes are the result of natural selection
3otohpdliw/moc.kcotsrettuhS
more likely to pass their inheritable, advantageous
allele on to offspring.
6 Change in allele The next generation of giraffes have a higher
frequencies over frequency of advantageous (tall) alleles and a
generations lower frequency of disadvantageous (short)
alleles. Over many generations, the tall allele
FIGURE 9.8 The allele to produce a long-necked
accumulates until the allele becomes fixed and
phenotype suited the environmental pressures.
the disadvantageous short allele becomes extinct.
Key concept
Natural selection occurs when selection pressures in the environment confer an advantage on
a specific phenotype to enhance its survival and reproduction; this results in changes in allele
frequencies in the gene pool of a population. These advantageous traits are passed on to future
generations and accumulate over time, resulting in a change in the gene pool of the population.
Sheep were very generic (had few breeds) and had random traits until about 300 years ago.
Selective breeding has been practised since then to select for the best quality and quantity of meat,
quality of wool, and size of the sheep. Sheep with the best characteristics were allowed to mate and
produce offspring who would also have the favourable traits. Many different varieties of sheep have
now been reared, all with traits that benefit humans.
Cattle, which currently have around 800 different breeds, have changed considerably from
their wild ancestor, the auroch, which is now extinct. Cows have been bred for meat quality, or
the quantity and quality of milk they produced. Jersey cows have been bred for both quantity and
quality of milk. This type of selective breeding can pose problems for cows. Cows with large udders
can be in discomfort due to the weight of the udder when it is full of milk.
The Belgian Blue is a breed of cattle that has been bred for the meat industry through artificial
selection. The Belgian Blue’s unusual physique comes from a naturally occurring ‘double muscling’
mutation. The mutation occurs in the myostatin gene (M), which codes for the protein myostatin
(‘myo’ = muscle, ‘statin’ = stop). Due to the mutation, muscle development is not regulated, resulting
in huge muscles.
a
eelessI cirE/moc.kcotsrettuhS
sknaborue/moc.kcotSi
FIGURE 9.9 a A ‘normal’ cow; b a Belgian Blue cow
Artificial breeding has also been applied to many fruits and vegetables, such as corn, bananas
and watermelons. Farmers and breeders use the practice of selection to cause major changes in the
features of their crops and animals over the course of decades. The changes in allele frequencies
cause evolution. The process is called artificial selection because people (instead of nature) select
which organisms get to reproduce.
The teosinte plant, still found in South America, is the origin of today’s corn plants. Native
Americans practised selective breeding (artificially fertilising, inbreeding and crossbreeding teosinte)
to create a higher yielding and tastier food source. The early corn plants had one cob per plant, on
which there were at the most 4–5 kernels, and they were covered in an outer husk. Today’s corn
has exposed kernels and is significantly larger than the earlier varieties, with more cobs per plant.
Plant breeding has been practised for thousands of years. It is practised worldwide by individuals
such as gardeners and farmers, and by professional plant breeders and researchers. It is conducted
over many generations. International development agencies believe that breeding new crops is
important for ensuring food security by developing new varieties that are higher-yielding, resistant to
pests and diseases, drought-resistant or regionally adapted to different environments and growing
conditions.
One major technique of plant breeding is selection, the process of selectively propagating plants
with desirable characteristics and eliminating or ‘culling’ those with less desirable characteristics.
Another technique is the deliberate interbreeding (crossing) of closely or distantly related
individuals to produce new crop varieties (hybrids) with desirable properties. Plants are crossbred to
introduce traits or alleles from one variety or line into a new genetic background.
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Traits that breeders have tried to incorporate into crop plants include:
• improved quality, such as increased nutrition, improved flavour, seedlessness or greater beauty
• increased yield
• increased tolerance of environmental pressures (salinity, extreme temperature, drought)
• resistance to viruses, fungi and bacteria
• increased tolerance to insect pests
• increased tolerance to herbicides
• longer storage period.
Artificial selection is similar to natural selection in that advantageous traits are passed on and
allele frequencies change and may accumulate over generations. The major difference between
artificial selection and natural selection is that humans choose traits that are advantageous to
humans, whereas in natural selection, an environmental selection pressure selects a trait, and that trait
is beneficial for the survival of the organism.
Artificial selection
Learn more about
artificial selection
here.
Selective breeding
Investigate selective
Wild banana Modern banana
breeding further and
The first bananas may have been cultivated Today’s tastier bananas are hybrids of two
compare selective
7000 years ago in what is now Papua New wild banana varieties, Musa acuminana and
Guinea, and were stocky and hard, with Musa balbisiana.
breeding with
large, tough seeds.
genetic engineering.
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Wild
mustard plant
FIGURE 9.11 The wild mustard plant has evolved into different forms through selective breeding.
The similarities and differences of natural selection and selective breeding can be summarised in
a Venn diagram.
Traits
Occurs naturally inherited from Humans select
without human parents desired traits that
interference benefit humans
Results in change in
Increases species’ allele frequencies in a May not enhance
chance for survival species survival of a species
FIGURE 9.12 Venn diagram of the similarities and differences between natural selection and selective breeding
Table 9.3 compares the advantages of natural selection and artificial selection.
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Sexual selection
Sexual selection is selection by male and female individuals of a population for an inherited trait that
assists in copulation or in the winning of a mate. This type of natural selection is always linked to
mating behaviour in animals. In this form of selection individuals with certain inherited characteristics
or behaviours are more likely than others to obtain mates and pass on their genes.
Sexual selection can produce quite spectacular effects, such as the enormous antlers of a moose,
or the long, showy tail of a male peacock. Over many generations, the frequency of the advantageous
allele increases. Therefore, this process is a mechanism for evolution. It can lead to the fixation of
advantageous alleles and the extinction of disadvantageous alleles. Although sexual selection is a
type of natural selection, the advantageous trait does not necessarily assist the individual to survive its
environmental selection pressure, it only helps it to win a mate.
Special characteristics such as the large tails of peacocks and lyrebirds, or the antlers of moose,
are actually quite costly to the animal that is carrying them, and do not directly give them any extra
survival advantage. In many cases, these attributes can be a threat to their survival. Loud and elaborate
courtship displays attract predators as well as mates, and growing new antlers every year costs
energy. So, what is the evolutionary advantage? One theory suggests that the females are selecting
for a very obvious characteristic that correlates with other beneficial alleles. There have been some
experiments carried out that suggest that this might be the case.
Sexual selection can also produce a phenomenon called sexual dimorphism. This term applies to
species in which males and females have different appearances or size. Males and females of certain
species are often quite different from one another in ways additional to their reproductive organs.
Males are often larger, for example, and display many elaborate colours and adornments, like the
peacock’s tail, whereas females tend to be smaller and duller in decoration. Morphological difference
such as this is termed dimorphism (‘di’ means ‘two’): the two sexes of the same species exhibit two
different forms.
Some examples of sexual selection can be surprising. For example, the Soay (Ovis aries) is a
primitive breed of sheep that lives on the rocky islands off the coast of Scotland. It is well known for
its agility on cliffs and for the large horns carried by many males. Large horn size appears to be a
sexually selected characteristic and provides males with a significant advantage in securing mates.
Variation in this trait appears to be controlled by a single gene. One allele (Ho+) is linked to large horns
and the other allele (Hop ) to smaller horns.
lliGcM divaD/otohP kcotS ymalA
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Biologists have often hypothesised that sexual selection helps females somehow choose
males who possess genes that confer a high level of biological fitness. But in the case of the Soay,
they found that males with large horns actually have lower fitness overall. Rams with small horns
Songs of the lyrebird
have a better chance of surviving the harsh winters, and rams that are heterozygous, carrying
Explore with David
Attenborough the one of each allele, are most successful overall in terms of survival and reproduction. This sexual
repertoire of one bird. selection ensures that the Hop allele survives in the population, even though it renders the rams
less sexually fit.
ABC Catalyst
Watch the video on
sexual selection (starts The multimedia display of the
at the 12-minute mark
and proceeds for lyrebird
8 minutes). The male lyrebird may not have the most
Noisiest mating call spectacular tail in the world, so you might think
A male white bellbird it would not be attractive to females. But the
screams a mating bird’s song display is a different story. The lyrebird
call. The birds further
enhance their courtship is one of the most accomplished mimics in the
DJRgiarC/moc.kcotSi
by extending a black animal kingdom. The males sing complex songs,
wattle, which grows
from their jaws. Watch mimicking animal and bird sounds, and even
it here. mechanical sounds, such as chainsaws. The
males with a greater repertoire achieve better
Mating dances reproductive success. FIGURE 9.14 The male lyrebird displaying its tail
National Geographic
peacock spider mating
dances Key concept
Bird of paradise mating Sexual selection is a form of selection in which individuals with certain inherited
dance characteristics or behaviours are more likely than others to obtain mates and pass on their
National Geographic
male bird of paradise genes. The traits do not usually provide a benefit for survival.
mating dances
Sexual selection
Read more about sexual
Question set 9.3
selection here. REMEMBERING
1 Outline the meaning of the following and give an example of each.
a natural selection
b sexual selection
c artificial selection.
UNDERSTANDING
2 Describe how natural selection contributes to evolutionary change.
3 Identify the role of variation in evolutionary change.
4 All breeds of dogs originated from the wolf. Over time they have been bred for particular
traits pleasing to humans, including friendliness. The cons of this breeding include back
pain for dachshunds and breathing problems in pugs. Name the type of selection involved
in dog breeding and discuss whether variation has increased or decreased in dogs.
5 In 2018, a man caught a sexually transmitted disease called gonorrhoea. He took
antibiotics, but it was the first case of the infection that could not be cured with
the first choice of antibiotics. The main antibiotic treatment – a combination
of azithromycin and ceftriaxone – failed to treat the disease. The World Health
Organization confirmed that this was a world first. The disease is caused by the
bacterium called Neisseria gonorrhoeae, and the infection is spread by unprotected sex.
Of those infected, about one in 10 heterosexual men and more than three-quarters of
women and gay men have no easily recognisable symptoms. Apply the principles of
natural selection to explain why the usual course of antibiotics did not work.
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6 Male widowbirds have extremely long tails. Females prefer the longer tail when selecting a
mate. Females have no outstandingly attractive features: they are inconspicuously mottled
brown and have short tails. Suggest a reasonable explanation for the evolution of long tail
feathers in male widowbirds.
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Bottleneck effect
Sometimes a catastrophic event or a period of adverse conditions drastically reduces the size of
a population. In this scenario, certain alleles may be lost through chance. If some portion of the
population survives the catastrophe, the original population gene pool cannot be recovered. The
expanded population can only
carry the alleles that existed in the
population that survived the event.
Therefore, the gene pool will now
carry an indication of the bottleneck
that occurred long after the population
has recovered. The bottleneck effect
occurs when there is a disaster of
some sort that reduces a population
to a small handful, which rarely
represents the full genetic makeup Parent population Bottleneck Surviving Next generation
(original allele (drastic individuals (change
of the initial population. This leaves frequencies and reduction in in allele
smaller variation among the surviving allele population) frequencies
proportions)
individuals.
The bottleneck effect is an extreme FIGURE 9.16 The bottleneck effect reduces genetic diversity
case of genetic drift as a result of in the population due to changes in the environment.
natural events or catastrophes.
Cheetahs are an endangered species
that have survived a drastic genetic
bottleneck. Facing a declining population,
the surviving parents mated with their own
offspring, and the resulting generations
were left with strikingly low variation in
alleles. One common allele is a mutated
allele with negative effects on fertility.
rublaHBelaD/otohpkcotSi
Typically, a male cheetah’s sperm count is
low, and 70% of the sperm are abnormal.
Other common alleles result in lowered
resistance to disease. Infections that
are seldom life-threatening to other cat
species can be lethal in cheetahs. There FIGURE 9.17 Cheetahs survived a severe bottleneck that
are only around 10 000 cheetahs left in increased the frequency of some unfavourable alleles.
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diversity than the original population, and deleterious recessive alleles may have a higher chance
of coming together than they did in the original population. The founder effect happens when
there is a dramatic decrease in genetic diversity caused by the development of small colonies
of individuals, sourced from the original population, that remain isolated from other colonies.
Only a small subset of the genetic diversity of the source population is likely to be included in the
new population, and the relative frequencies of these alleles may be very different from what they
were before.
The founder effect is an extreme case of genetic drift in a small population that migrates away
from a large parent population, carrying with it an unrepresentative set of alleles.
This effect has been observed Descendants
in human populations when small
groups of particular religious or Sample of original population
ethnic backgrounds have settled
somewhere new and mixed very
Founding
little with other populations. Around
population A
200 people originally formed (a misrepresentative
proportion of alleles)
the Amish community of North
America, and at least one of them
harboured a recessive allele for
Ellis–van Creveld syndrome. This
syndrome, symptoms of which Founding
population B
include dwarfism, polydactyly (extra (a misrepresentative
proportion of alleles)
toes or fingers) and sometimes a
hole in the heart, has been common FIGURE 9.18 The founder effect reduces genetic diversity in a
among Amish people of this region new population due to the reduced number and diversity of the
ever since. founding individuals.
Key concept
Genetic drift is a mechanism of evolution in which allele frequencies of a population change
over generations due to chance. Genetic drift occurs in all populations, but its effects are
strongest in small populations. There is usually a loss of genetic variation over generations. The
founder effect and bottlenecks are extreme examples of genetic drift.
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their frequency. Many plants, for example, send their seeds far and wide, by wind or in the guts of animals;
these seeds may introduce alleles common in the source population to another population in which
they are rare. Gene flow is another mechanism for evolution, because the migration of individuals from
population to population results in changes in the allele frequencies in populations.
aa
AA
AA
AA
aa
aa
aa
aa AA
FIGURE 9.19 Gene flow is the transfer of alleles that results from the migration of individuals between
populations.
Humans are polymorphic for a range of blood groups, including the ABO blood group. Indigenous
Australians have some alleles that are present at frequencies different from those of other populations
in the world. They have largely been isolated for the last 50 000 years, except for some gene flow from
Asia and New Guinea in the northern regions of Australia. Most Indigenous Australians do not possess
the IB allele of the ABO blood group that results in either B or AB type blood. The IB allele occurs at
a frequency of up to 10% in European populations and up to 20% in Asian populations. The overall
frequency of the IB allele is increasing within the Indigenous Australian population due to the migration
of people from Asia and Europe into Australia and the genetic flow between these populations.
Key concept
Gene flow is a mechanism for evolution due to migration. When an individual leaves one
population and joins another population, it brings along its genetic information. When that
individual breeds, its alleles are added to the new population.
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Tree of Life
The Tree of Life project is a collaborative effort of biologists from around the world. It provides up-to-
date information about biodiversity, the characteristics of different organisms and their evolutionary
history (phylogeny).
The Tree of Life
Investigate the
characteristics and
Micro-evolution evolution of various
organisms.
The significant outcome of natural selection pressure is a change in the frequencies of various
alleles within a population, a process called micro-evolution, which is change within a species.
Micro-evolution refers to any small-scale change in the gene pool of a population. Changes in
allele frequencies occur in a population over generations due to the mechanisms of mutation,
natural selection, selective breeding, genetic drift and gene flow. The idea of micro-evolution puts
the spotlight of evolutionary theory firmly on the genetic makeup of populations. We now see a
population as a large pool of alleles that can change over time for a variety of reasons. Regardless of
how this change is occurring, if the gene pool is changing over time, then evolution is occurring. This
means genotype and phenotype frequencies are changing slightly over generations.
Macro-evolution
Major evolutionary changes above the species level are sometimes referred to as macro-evolution.
Speciation and macro-evolutionary changes result from an accumulation of micro-evolutionary
changes over many generations and over a very long time. Small-scale changes occur over one
generation, but when there is a very long time scale (3.5 billion years of life on Earth), the micro-
evolutionary changes accumulate into large changes. Large changes in a gene pool can be significant
enough to lead to the production of a new species. This is known as speciation, as occurred in the
Galápagos’ finches over many generations and considerable time (see next section).
Macro-evolution includes the largest transformations in evolution. Examples are the changes that
led to the evolution of mammals and of angiosperms (flowering plants). Macro-evolutionary patterns
are generally what we see when we look at the large-scale history of life. Speciation is the link
between micro-evolution and macro-evolution. Macro-evolution is the result of a series of speciation
events.
Key concept
Micro-evolution is any change in the allele frequencies in a gene pool of a population over time.
It occurs within species. Speciation is the production of a new species. Macro-evolution is the
result of a series of speciation events.
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9.7 SPECIATION
Speciation: an A species is a group of organisms that can interbreed to produce viable, fertile offspring and cannot
illustrated introduction
Watch the video breed with individuals of another species to produce fertile offspring. This is the biological species
on speciation as an concept – a genetically isolated group with its own gene pool. The morphological species concept
introduction defines a species by its structural features. Individuals of the same species are morphologically similar.
Speciation is the formation of a new species. It is the process of one species splitting into two or
more species.
The Galápagos Islands lie 1000 km west of Ecuador (South America) in the Pacific Ocean. When
Darwin visited them in 1835, during his famous voyage on HMSBeagle, he realised that these islands
were geologically quite young. They were teeming with life, but the animals and plants on the islands
were of recent origin. Many of these appeared to be related to similar species on the South American
mainland, but were also clearly different from them. One of the most famous groups of animals on
the Galápagos Islands are the 15 or so species of giant tortoise, whose closest living relative, the
Chaco tortoise, is found in mainland Argentina. Darwin wondered how they had got to the islands,
and how they had changed into new species. He hypothesised that the tortoises on the islands
originally came from the mainland population, but had changed over time to become better suited to
the environment of the Galápagos.
a b
FIGURE 9.20 a The famous Galápagos tortoises are similar to b the much smaller Chaco tortoise (Geochelone chilensis), found in
South America.
Scientists have hypothesised that there may be more than 8 million different species on Earth, but
this is difficult to estimate accurately, because only around 1.2 million species have been identified
and classified so far. Macro-evolution is a set of processes that attempts to explain how new species
have evolved in such large numbers.
There are three broad processes that work together towards macro-evolution.
1 Natural selection favours phenotypes that make the population better adapted to its environment.
Populations change over time as their gene pools accumulate small changes in response to
natural selection. This is micro-evolution.
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2 Eventually a population accumulates so many changes that a new species can be identified. This
process can lead to speciation, the multiplication of species.
3 Sometimes a rapid series of speciation events leads to the development of a whole collection of new
species, or even genera, families, or higher classification groups. This is referred to as macro-evolution.
Sometimes, the only evidence that a species existed is in the fossil record. When dealing with
fossils only, the morphological species concept can be applied. This concept identifies different
species based on their physical and physiological characteristics, but when used on the fossil record
is limited to what can be observed. For example, red and grey kangaroos are two of Australia’s most
recognised marsupials. Kangaroos are quite well represented in the fossil record. Twenty-five mya,
the ancestors of modern kangaroos lived in rainforests and fed on fruit. Kangaroos of today are
connected to these distant ancestors through an unbroken line of descent.
Key concept
The biological species model defines a species as a reproductively isolated group of
organisms. Species can also be identified through consistent differences in morphological
and physiological traits, as well as genetic differences.
NOITACILPPA
has shed light on the evolution of the kangaroo. Read New fossil discovery confirms
the weblink to find out more about this fossil and the evolution of kangaroo
information it provides for our understanding of kangaroo Study more about the evolution of the
evolution. kangaroo by reading this resource.
Mechanisms of speciation
Speciation occurs when a single population becomes two separate populations that are unable to
interbreed due to changes that produce physical, biological or behavioural barriers. This separation,
termed reproductive isolation, results in the gene pool of the original species being divided.
Selection pressures act on the separated populations to cause micro-evolution, which can begin to
change them in different ways. The accumulation of different phenotypes that match the different
environments following reproductive isolation is known as adaptive radiation. Over time the allele
frequencies of the separated populations may become so different that the individuals are no longer
able to interbreed even if they are reunited, and we come to regard them as two distinct species. This
is divergent evolution: one species has separated (diverged) into two separate species.
For example, small species such as frogs can cover long distances if enough time is available.
Thus, during a period of hundreds of thousands of years, frogs can ‘pond hop’ hundreds of kilometres,
which means that they can colonise new habitats and exploit new breeding sites. It seems that
Victorian frogs colonised Tasmania in this way during the succession of recent ice ages. They did not
evolve into new species until the subpopulations became isolated, in this case by the rising sea waters
of an interglacial period.
a b
FIGURE 9.23 Magicicada, a periodical cicada endemic to the northern United States
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In North America there are several species of periodical cicadas (genus Magicicada), some that hatch
out every 17 years and others that hatch every 13 years. Research has suggested the unusually lengthy
life cycles may act to prevent different populations interbreeding and producing hybrid offspring.
Another example of a pre-reproductive isolating mechanism can be seen in frogs. The mating
calls of frogs may sound very similar to us, but to other frogs they sound vastly different. Frogs usually
reproduce only with members of their own species, so their call acts as a pre-reproductive isolating
mechanism. In many cases, frogs have undergone speciation because their mating calls ensure that
they mate only with frogs with the same call. If populations become isolated, and the call changes
slightly, that can be enough to reproductively isolate the populations (even if they are reconnected) and
prevent gene flow between them till they are genetically different enough not to be able to interbreed
successfully.
Allopatric speciation
In allopatric speciation (from the ancient Greek ‘allos’ = other and ‘patra’ = homeland), gene flow is
disrupted when populations become physically separated through geographical isolation. The populations
diverge. This may be because of different selection pressures acting on the two populations, or it may
be due to other random processes such as genetic drift (see page 305). The isolation may happen on
a very small scale, such as when a river or stream changes course and subdivides a population of small
animals that can’t cross it. On a somewhat larger scale, deserts may expand, cutting off populations that
cannot live under desert conditions. Allopatric speciation is the most common form of speciation. It is
distinguished from reproductive isolation mechanisms because it is not part of the species’ biology. The
divergence of populations into new species is known as divergent evolution.
Physical barriers that can separate a subpopulation from its original population species can
include:
• water, for terrestrial organisms
• land, for aquatic organisms
• mountains.
New physical barriers can arise due, among other things, to:
• continental drift
• rising sea levels
• climate change.
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Islands are home to many examples of allopatric speciation. On the Galápagos Islands, Darwin
noticed a flightless cormorant. This species most likely originated from a small population of ancestral
flying species that reached the islands from the South American mainland. The two populations
would have been physically isolated by the 1000 km of ocean between the islands and the South
American mainland. There would have been no gene flow between the two populations. The islands
were totally free from predators. The reduced predation changed the selection pressures acting on
this cormorant population. There were still selection pressures for efficient movement underwater,
but there was less pressure for efficient flight. This led to a reduction in the size of the wings in the
cormorant population, to a morphology that was well suited to movement under water but which no
longer allowed flight.
The flightless cormorant (Phalacrocorax harrisi) of the Galápagos Islands diverged from flighted
cormorants on the mainland through allopatric speciation. P. harrisi is most closely related to
cormorants such as the neotropic cormorant (P. brasilianus), which is widespread throughout tropical
regions of South and North America (Figure 9.24). Phylogenetic studies have only recently identified
the mainland species (all flighted) to which the Galápagos cormorant is most closely related.
P. harrisi: on the
Galapagos Islands
Galápagos
Islands
South America
The more recent arrival of feral dogs and cats to the islands has once again led to a change
in selection pressures on this animal. There have been dramatic reductions in the cormorant
population, which is not well adapted to the new predation pressures because it cannot fly.
It is now recognised as an endangered species.
Key concept
Most speciation seems to occur as a result of populations becoming physically separated
through geographical isolation, leading to disruption of the gene flow. This process is called
allopatric speciation.
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3 No gene flow
Due to the physical barrier, the two subpopulations
are genetically isolated. There is no migration
between the two subpopulations.
6 Genetic drift
Genetic drift occurs independently in the
subpopulations, causing different alleles to be
passed to offspring randomly.
Range of overlap
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Sympatric speciation
Allopatric speciation seems to have been the main mechanism producing new species throughout
evolutionary history. But sometimes species diverge without any obvious physical or geographical
isolation. Sympatric speciation refers to the evolution of two or more new species from a single
population within the same place.
How can new species arise without physical separation? It might be that groups within a single
population feed on different things, or choose mates based on different characteristics. They may
also choose to mate at different times. Genetic separation may occur due to the various pre-zygotic
and post-zygotic processes introduced on pages 312 and 313, respectively. There are not as many
clear examples of this type of speciation, but a few are quite striking, as in the case of Magicicada
(Figure 9.23, page 312).
An ecologist at the Australian National University, Professor Sarah Legge, argued that the driver of
so much land being burned at once with such intensity was climate change. The extended drought
and high temperatures experienced over much of Australia are unprecedented.
Animals able to escape fires survive, and those who can’t (particularly slow-moving, land-dwelling
animals) perish. This will impact on the evolution of species in Australia. Regeneration and evolution
by natural selection is slow; extinction can be fast. This
means biodiversity is lost.
The National Aeronautics and Space Administration
(NASA) estimated that thousands of koalas have died, possibly
tens of thousands, just on Kangaroo Island alone. Koala
populations that survive the fires are likely to be cut off from
one another, lowering their genetic diversity and threatening
their long-term survival. Sudden reductions in population
size can cause genetic bottlenecks that lead to inbreeding,
which can reduce reproductive fitness and make extinction
more probable. To help the surviving koala populations, many
Key concept
Extinctions have occurred naturally over geologic time. The recent Australian bushfires devastated Animals killed in
populations of native animals, pushing many already endangered species closer to extinction. bushfires
Click on the video series
and watch ‘At least a
Preventing extinction by preserving genetic diversity billion animals killed in
bushfires’.
Populations with reduced diversity face increased risk of extinction, so conservation projects usually
focus on maintaining genetic diversity. When large-scale extinctions occur, not all species are lost.
Some seem to be more at risk than others. Rapid extinction events can lead to greater loss of large
organisms than of small ones. A large distribution area is generally a big advantage, because it may
allow some pockets of habitat to survive. Large population size can also be some protection, because
the population is likely to have a more diverse gene pool and thus a greater variety of alleles and
phenotype options as the pressures from natural selection change.
UNDERSTANDING
3 Why do many scientists believe the 2019/2020 Australian
bushfires were the result of climate change?
4 Why does the Australian Academy of Science recommend
that an increase in global warming must be limited to FIGURE 9.27 A rescued koala injured in the 2019/2020
less than 1.5°C? bushfire on Kangaroo Island, South Australia
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nretseW - snoitcarttA
dna noitavresnoC
Government of WA’s Department
,ytisrevidoiB fo
tnemtrapeD
of Biodiversity, Conservation and
ailartsuA
Attractions, and the Parks and
Wildlife Service. It was launched FIGURE 9.28 WA’s Western Shield recovery program
in 1996 and is now one of the
biggest wildlife conservation programs ever undertaken in Australia. The aim of the project is
to recover native animal populations in the wild, through control of foxes and feral cats, and by
reintroducing native animals to their former habitats.
Western Shield aims to return the balance of native animals in selected areas of WA’s
environment to levels comparable with pre-European colonisation. It has a particular focus on
threatened species.
Western Shield suggests viewing the 53-minute video ‘Before it’s too late: Australia’s Mini
Marsupials’. It tells of the impact of European colonists on the endemic species and on the
Indigenous peoples, and shows people being trained to become wildlife managers.
Australia’s mini The most famous species to have become extinct is the Tasmanian tiger. The video warns
marsupials
Learn about the impact that the woylie, numbat and honey possum are also close to extinction.
of European colonialists. Woylies are an example of a species unable to adapt to the drastic changes in their
environment. The most significant changes to their environment include the introduction
of species such as feral cats, and habitat loss due to land clearing and climate change. Woylie
populations have declined from 225 000 to around 10 000–20 000 in the last 15 years. They
once inhabited more than 60% of mainland Australia, ranging through WA, the Northern
Territory, South Australia, Victoria and New South Wales. Now, they can only be found in small
pockets in WA and on offshore islands in South Australia.
Murdoch University led a study on the genetic diversity loss of woylies, which was
published in 2015. They found, when compared with ancient DNA, that woylies had lost a
significant amount of genetic diversity, and recommended assisted migration (and thus
assisted gene flow) to increase their reproductive fitness.
Honey possums are the only marsupial in
the world that feeds solely on nectar and pollen.
A deadly plant disease known as phytophthora is
partly responsible for the decline in honey possum
numbers. Phytophthora kills the trees on which
the possum feeds.
yrarbiL erutciP erutaN/otohP kcotS ymalA
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CHAPTER 9 | Mechanisms of evolution and speciation 319
Honey possums are only found in south-western Australia. They have a very limited diet –
the sweet nectar from plants such as banksias and bottlebrushes. One adaption they have
developed is a long snout to reach the nectar, and newborn baby honey possums weigh only
about 5 mg.
The spread of the disease phytophthora, caused by Phytophthora cinnamomi (dieback),
throughout southern WA has severely impacted Banksia ilicifolia trees, which are the honey
possums’ primary food source, and the impact has been greater in burnt areas than in unburnt
areas. Professor Bradshaw conducted a study on honey possum recovery after two fires.
Analysis of catch-per-unit-effort and population density of honey possums over the whole 29-
year period of the study showed that numbers had not declined in the long-unburnt southern
area of the study site, despite the spread of dieback and loss of banksia trees. Recovery numbers
were less encouraging in the burnt areas. Given predictions of increasing fire frequencies
due to climate change and the increased use of prescribed burning to protect human life and
property, it is imperative that areas harbouring honey possums be protected from too-frequent
fire if this iconic species is to persist. It is close to extinction.
Department of Biodiversity, Conservation and Attractions - Western Australia
Questions
1 Name a new factor that entered the environment of the woylie with European colonisation.
2 Describe how feral cats and foxes have introduced additional natural selection within
populations of small and medium-sized mammals endemic to WA.
3 Honey possums are an endangered species. Why should we care that they are close to
extinction?
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nest boxes in Leadbeater habitat. Unfortunately, the artificial hollows were not used.
In addition, the research has shown that logging significantly degrades habitat for
Leadbeater’s possum and renders it unsuitable for 150 to 200 years. The science is now
30 years in the making and it’s very strong. The path forward is clear. If we don’t log
strategically, Leadbeater’s possum is going to go extinct.
Questions
1 Outline the main habitat features essential for the survival of the Leadbeater’s possum’s
remaining population.
2 Apply your understanding of selection pressures and describe those that are likely to be
acting on the Leadbeater’s possum.
3 Fossil evidence shows the historical distribution of the Leadbeater’s possum included
an area in New South Wales. Suggest how this species may have evolved and how its
distribution may have become so limited and fragmented.
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CHAPTER 9 INVESTIGATION
Developed by Southern Biological
NOITAGITSEVNI
Background
Natural selection was proposed by Charles Darwin to explain how new species evolve. All types of
living things have small differences between the individuals in the species. If one of those differences
allows the individual to live longer, they will likely have more offspring. As that trait is passed on, the
population starts to look more like the successful individual. Over time, the species changes.
Aim
To explore how hatching viability of Artemia sp. is impacted by different saline level environments.
Time requirement
45 minutes
Materials
• Brine shrimp eggs (cysts)
• 4 Petri dishes
• 0.5%, 1.0% and 2.0% solutions of salt water
• 1 fine brush
• 4 microscope slides
• 4 strips of double-sided tape
• 1 stereo microscope
• 1 permanent marker
• Distilled water
• 1 graduated cylinder
• Light bank or source of light
Risks
WHAT ARE THE RISKS IN THIS INVESTIGATION? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
Brine shrimp may cause an allergic reaction in some Ensure appropriate personal protective equipment is
people. used at all times and be mindful of any known allergies.
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7 Using a microscope, count the number of eggs on the first slide. Copy Table 9.5 and use it to
record your information.
8 Once the eggs have been counted, place this slide into the 0% salt solution Petri dish. Place the
slide with the tape side facing up.
9 Count the eggs on each slide and place them in the respective salt solution. Record the egg count
in Table 9.5.
10 Place the Petri dishes under a light bank and allow them to rest at room temperature for 24 hours.
Procedure – Data collection (days 2 & 3)
11 Using a stereo microscope, examine the contents of each Petri dish.
12 By this stage, you should see some brine shrimp have hatched and are swimming in the salt
solution. Record this information in Table 9.5.
13 Calculate the hatching viability of each dish at 48 hours by dividing the number of shrimp
swimming by the initial number of eggs in the Petri dish. Repeat this process for all 4 Petri dishes
and record the results in Table 9.5. Copy Table 9.6, round up your calculations to the nearest
hundredth, and add your information to the class data in Table 9.6.
14 Calculate the mean. Round your answers to the nearest hundredth and add them to Table 9.6.
Results
TABLE 9.5 Group data for hatching viability of brine shrimp in varying levels of salinity
TABLE 9.6 Class data for hatching viability of brine shrimp in varying levels of salinity
GROUP SALINITY
2% 1% 0.5% 0%
1
2
3
4
5
6
7
8
Mean hatching viability
Draw a graph of your results, ensuring you include all labels and units.
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Discussion
1 Describe two conditions that were controlled in this experiment.
2 Which Petri dish had the highest hatching viability? Which had the lowest? Suggest possible
reasons for these results.
3 Was your hypothesis correct? Why or why not?
4 Based on your individual and class data, is there enough evidence to conclude that environments
of different salinities affect the hatching viability of brine shrimp?
Taking it further
What other conditions may impact the hatching viability of brine shrimp? Design an experiment to
investigate another environmental factor that may impact hatching viability.
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WS
CHAPTER 9 SUMMARY
Chapter 9
Activity sheet • The main mechanisms of evolution are • The founder effect is observed when a new
mutation, natural selection, genetic drift, population is established by a small number
and gene flow (through migration). of individuals, leading to a population with
• New alleles arise through mutations, which limited genetic diversity.
are a key source of variation within a • Gene flow is the movement of genes
population. between different populations.
• Natural selection acts on variation in the • A gradual change in the gene pool of a
phenotype of a population. This variation is population is called micro-evolution.
inheritable. • Speciation and macro-evolutionary changes
• The modern theory of evolution takes into result from an accumulation of micro-
account all that we now understand of how evolutionary changes over time.
our traits are inherited and is called the
• Migration is the movement of individuals
modern synthesis.
of a population into or out of a region.
• A population is a group of individuals Migration can result in gene flow.
of the same species that live in the same
• The formation of new species often involves
geographic area and interbreed, producing
reproductive isolation combined with
fertile offspring. The sum total of all alleles
selection pressures, leading to a disruption
present in a population is called the gene
of the flow of genes.
pool.
• The splitting of a single species into
• Selective breeding (artificial selection) is
multiple new species usually involves
the selection of animals and plants with
physical or geographical isolation. This is
desirable characteristics for breeding,
allopatric speciation.
resulting in changes in allele frequencies in
• Speciation always involves significant
gene pools over time.
changes in the gene pool.
• Sexual selection occurs when individuals
• Major climatic and geological changes have
with certain inherited characteristics are
led to the evolution of multiple new species
more successful than other individuals in
from a single group, a process referred to as
finding mates.
adaptive radiation.
• The bottleneck effect refers to genetic drift
that occurs when there is a significant • Severe changes in climate and other
reduction in population size, resulting in physical conditions have sometimes led to
the extinction of many species, an event
genetic diversity that is non-representative
of the original population’s allele referred to as a mass extinction.
proportions. This can lead to a decrease in • Populations with reduced genetic diversity
the gene pool of a species. face increased risk of extinction.
CHAPTER 9 GLOSSARY
Accumulation The process of alleles or with differing adaptations; it can be triggered
traits gradually becoming more common over by many factors, such as the emergence of
generations reproductive barriers within a population,
changes in the availability of resources, new
Adaptive evolution Changes in a population
of organisms that make that population better challenges or new opportunities; it is a type of
adapted to its environment over time divergent evolution
Adaptive radiation The process by which Allopatric speciation Speciation that occurs
a species rapidly diversifies into many taxa due to physical or geographic isolation
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Artificial selection (selective breeding) The Hybrid offspring Offspring from parents of two
intentional breeding or reproduction by humans different species
of individuals with desirable traits, resulting in Inheritable Capable of being passed on to the
changes in allele frequencies in gene pools over next generation
time; the traits are beneficial to humans
Isolating mechanism A mechanism that
Biological fitness The capacity of an individual prevents organisms from mating or producing
to survive and produce viable, fertile offspring viable offspring
Biological species concept A definition
Macro-evolution The evolution of new groups
of species based on whether members can of organisms comprising many related species
interbreed to produce fertile offspring
through multiple speciation events; includes
Bottleneck effect A random reduction in adaptive radiations
the size of a population, which can lead to
Mass extinction Extinction of many species
a reduction in the gene pool because of the
over a relatively short (geological) period of time
misrepresented allele proportions; it can occur
when a catastrophic event or a period of adverse Micro-evolution Change in the gene pool below
conditions drastically reduces the size of a species level; any small-scale change in the gene
population pool of a population
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Reproductive isolation When a single of breeding and exchanging genes with one
population becomes two separate populations another and whose offspring are capable of
that are unable to interbreed due to physical, doing the same
biological or behavioural barriers Sympatric speciation Speciation that occurs
Selection pressure A factor that influences without physical or geographic isolation
the survival of an individual within a population Theory of evolution States that all organisms
Sexual dimorphism Different morphologies have developed from previous organisms and
(often in shape or size) between males and that all living things have a common ancestor in
females of a species some initial form of primitive life. It also states
Sexual selection A selection process that that all organisms are fundamentally similar
occurs between males or between females in a because their basic chemistry was inherited
population for an inherited trait that assists in from this very first organism.
copulation or the winning of a mate Variable trait A trait that varies in the
Speciation The evolution of one or more new population due to differences in alleles carried
species from an ancestral species. A population by different individuals
is considered a new species when it can no Variation The diversity of genetic and
longer interbreed with the ancestral species. phenotypic traits within and between
Species A group of similar organisms capable populations
Understanding
3 Explain the term ‘bottleneck’ and what effect a bottleneck may have had on the human gene
pool.
4 Draw a diagram to summarise the ways natural selection has occurred among the peppered
moth of Great Britain, as described in this chapter.
5 Provide an example of how an understanding of changing gene pools is important in
understanding evolutionary change.
Applying
6 Apply the definition of micro-evolution to a discussion of whether modern humans are still
evolving.
7 Herbert Spencer used the phrase ‘survival of the fittest’ to describe Darwin’s concept of natural
selection. Outline the ways in which this term could be misleading.
8 In the 2019/2020 bushfire season, many areas of Australian bush were burnt, leaving fragments
of habitat. A group of greater gliders (Figure 9.32) were cut off from the main remnant of their
population due to lost habitat and they could no longer mate with them.
a Assuming there was a sufficient gene pool in the subpopulation for them to survive,
describe how this could lead to speciation.
b Would this be allopatric speciation? Explain.
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Analysing
9 Construct a genetic drift diagram that illustrates
how a trait can become extinct over a few
generations.
10 Identify the key difference between Darwin’s
original conception of adaptive evolution through
natural selection and what is referred to as the
‘modern synthesis of the theory of evolution’.
11 Explain why processes such as genetic drift,
the founder effect and sexual selection are not
regarded as examples of adaptive evolution.
TABLE 9.7 Percentage divergence of nucleotide sequences in a rapidly evolving section of nuclear DNA in four
primate species
a From the DNA data comparison, which primate(s) seem to be most closely related to
humans?
b Of the non-human primates, which seem to be most closely related to one another from
this data?
c From the data, which pair of primates do you think shared the most recent common
ancestor?
d Based on the data, construct a possible phylogenetic tree.
Evaluating
15 The long-billed black-cockatoo (Calyptorhynchusbaudinii) is found in the south-west of WA.
It lives in the tall jarrah–karri forests and eats the seed capsules of eucalypts. Very similar
birds, known as short-billed black-cockatoos, live in the inner wheat belt around Geraldton and
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generally avoid forests. They eat pine seeds as well as hakea and banksia seeds. Initially the
short-billed black-cockatoos were classified as a subspecies. Following further investigation,
over time, the subspecies was reclassified as Calyptorhynchus latirostris, a separate species. Bill
length is described as an adaptation to the different environments that the birds occupy.
a What is meant by the term adaptation?
b What is meant by the term subspecies?
c Using the concepts you have learned in this chapter, outline the steps that might have taken
place for the two subspecies to become two separate species.
Creating
16 Design a diagram that clearly summarises the various mechanisms leading to evolutionary
change. Your table or diagram should indicate which of these changes lead to populations
becoming better adapted to a change in their environment.
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7 Dung beetles are a type of insect and feed Middle Miocene rock
(dates from
on animal faeces. A recent survey identified 15 million years ago) 4
2
over 500 species of dung beetle that are 3
1 m Merychippus
native to Australia.
a Define a species. (2 marks) 5
b Explain how new species of dung beetle Late Eocene rock
(dates from
could evolve by allopatric speciation. 35 million years ago)
4
(5 marks) 2
3
c Most species of dung beetle are 0.6 m Mesohippus
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UNIT 4
SURVIVING IN
A CHANGING
ENVIRONMENT
ecrefiotsaebon/moc.kcotsrettuhS
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10
HOMEOSTASIS AND CHAPTER 10 CONTENT
THERMOREGULATION By the end of this chapter, you will have covered the
following material.
STARTER QUESTIONS
1 Homeostasis is required in order to maintain certain
internal factors within a tolerance range. Can you
identify the parts of an animal’s body that can detect
changes in the internal and external environments?
2 Can you list factors inside a mammal’s body that
require maintenance within a set range for that
mammal to survive?
3 What processes occur inside your body to assist
in maintaining your body temperature at 37°C
when you move from an inside air-conditioned
temperature of 25°C to an outside temperature of
40°C?
SCIENCE UNDERSTANDING
» homeostasis is the process by which the body
maintains a relatively constant internal environment;
it involves a stimulus–response model in which
change in external or internal environmental
conditions is detected and appropriate responses
occur via negative feedback
» changes in an organism’s metabolic activity, in
addition to structural features and changes in
physiological processes and behaviour, enable the
organism to maintain its internal environment within
tolerance limits (temperature, nitrogenous waste,
water, salts, and gases)
» thermoregulatory mechanisms include structural
features, behavioural responses and physiological
mechanisms to control heat exchange and metabolic
activity; animals can be endothermic or ectothermic
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10.1 HOMEOSTASIS
Homeostasis is defined as the processes involved in maintaining a constant internal environment,
within tolerance limits, despite changes in the internal and external environment. Homeostatic
regulation occurs in two stages. Stage one is the detection of a change from the stable state, known
as the stimulus (plural stimuli). Stage two is the response to the stimulus, which can be described as
counteracting the change. Therefore, to understand homeostatic regulation, a stimulus–response
model can be used. The purpose of homeostatic regulation is to maintain internal factors around a set
normal value. When the factors deviate away from the value, homeostatic adaptations will attempt to
bring the factor back to the normal value.
Living organisms carry out a series of chemical reactions in order to continue living. A linked
series of reactions is known as a biochemical pathway. The sum total of these chemical reactions
is called metabolism. The metabolic reactions are controlled by enzymes. Without enzymes, the
Homeostasis Part 1
Watch this video for chemical reactions would proceed too slowly to keep the organism alive. Enzymes are reusable,
an introduction to biological catalysts that lower the activation energy of chemical reactions, enabling them to proceed
homeostasis. faster. They are proteins that are sensitive to factors such as temperature and pH. Enzymes have
Homeostasis Part 2 certain tolerance limits within which they can avoid denaturation and function effectively. When an
Learn more about enzyme is denatured, it changes shape and becomes useless. Protein shape is influenced by salinity,
homeostasis.
pH, temperature and other environmental factors. Homeostatic processes maintain all those factors
within ranges favourable for the operation of enzymes.
Homeostatic regulation is required in all organisms in order to maintain the correct
environment for metabolic reactions. It is a necessity for survival. Just as there are a huge variety
of organisms in our world, there are huge variations in the level of homeostatic regulation
required by different organisms. Some organisms regulate many internal factors in widely varying
environments, while others do little more than contain their internal chemicals as well as they can
in fairly constant environments. Homeostasis (steady state) means the environment inside living
organisms stays the same, regardless of external environmental changes. Organisms have evolved to
be able to achieve this when the changes are not too extreme. When the changes are extreme, the
internal environment of an organism may be driven outside tolerance limits, causing illness or death.
For example, on a mountain top, the human body can produce extra red blood cells to keep the
level of oxygen in the body from getting too low, even though the level of oxygen outside is lower
than at sea level. However, at a certain point there’s just not enough oxygen outside and the body
cannot cope.
This chapter explores the stimulus–response model of homeostasis, negative feedback, and
the structural features, behavioural adaptations and physiological processes that help organisms
to maintain a relatively constant internal state – a state of homeostasis – and survive in their
environments.
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Blood travels to
cells via arteries,
arterioles and
capillaries. Interoreceptors within
the cells detect high levels
of carbon dioxide in the
cytosol.
FIGURE 10.1 The exchange of carbon dioxide between blood plasma and interstitial fluid
The external receptors of organisms detect changes in their external environment, interpret
these signals and coordinate a response for survival or development. External receptors can work as
individual receptors or together as a group. They can be distributed evenly over the body (e.g. pain
receptors), located in specialised areas (e.g. taste buds) or concentrated in organs (e.g. the eye).
his body’s ability to maintain heat balance responses to the heat. The conditions in his
became impaired. His judgement overrode the internal environment became intolerable. He
warning signs, and his coordinating systems is fortunate to have survived the experience.
were unable to regulate his physiological
Body overheated to
Brain damaged
42.8°C
Lungs damaged
FIGURE 10.2 Extreme environmental conditions affect homeostasis with life-threatening consequences.
Coordinating a response
In complex animals, there are two systems (the nervous system and the endocrine system) that are
responsible for monitoring changes, transmitting messages and coordinating responses. The nervous
system is fast acting and the endocrine system is relatively slow acting.
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Cerebrum
Brain
Cerebellum
Lumbar
nerves
supplying Peripheral nervous system
legs and
lower back
Spinal
Sacral nerves cord
supplying legs
and genitals
Coccygeal nerves
supplying vestigial
tail
FIGURE 10.3 a Overview of the nervous system; b main divisions of the nervous system
Sensory neurons (in the PNS) transmit messages from the receptor organs to special regions of
the brain (in the CNS) via the spinal cord. When one of the regions of the brain receives a message
about a detected change, it coordinates any response necessary to counteract the change and
sends messages to the effector organs (via the motor neurons in the spinal cord and then the motor
neurons in the PNS).
Afferent and efferent are directional words. Messages sent in an afferent direction travel from the
receptor cells to the CNS along (afferent) sensory neurons. Messages sent in an efferent direction
travel from the CNS to the effector along (efferent) motor neurons.
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Dendrites
Nucleus Dendrites
Axon
Cell body
Cell body Cell body
The axon
of the
Axon interneuron
is branched.
Nerve
impulses Myelin
Myelin sheath
sheath
Nerve impulses
Motor Axon
end-plate terminals
Sense organ
(touch receptor) Muscle
fibre Interconnecting neuron
Sensory neuron Motor neuron (interneuron)
FIGURE 10.4 The generalised structure of sensory, motor and interconnecting neurons. All classes of neurons
can have a variety of shapes.
TABLE 10.2 Examples of vertebrate endocrine glands, the hormones they secrete, and their function
A target tissue may be a long way from the gland that secretes the hormone (Figure 10.5). For
example, antidiuretic hormone (ADH) is secreted by the pituitary gland in the brain but exerts its
effects on the kidneys. It stimulates the reabsorption of water, helping maintain an appropriate water
balance in the body.
The coordination of activities associated with the endocrine system is largely carried out by
the pituitary gland. It is known as the master gland because it produces many hormones that affect
hormone production by other endocrine glands. However, just above the pituitary gland is the
hypothalamus, which controls the functioning of the pituitary gland in regard to water balance. The
hypothalamus detects and coordinates many homeostatic factors.
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Thyroid
(produces thyroxine) Parathyroid glands
FIGURE 10.5 Location of some of the endocrine organs in the human body
Hormones and hormone-like substances occur in other organisms and they are essential to the
regulation of a variety of activities. Female ring doves coo during courtship to stimulate the release
of the hormones that result in egg development. In plants, a light-sensitive hormone called auxin is
responsible for plant growth towards light (phototropism) to maximise their photosynthetic ability.
Key concept
Homeostasis involves a stimulus–response method for maintaining a constant internal
environment. The nervous system and the endocrine system are involved in detecting stimuli
and transmitting a response. Sensory neurons in the PNS carry a message to the CNS, and
motor neurons in the PNS transmit the message to effectors (i.e. muscles and glands). In
the endocrine system, the hypothalamus detects changes and coordinates the response of
hormones, many of which are produced by the pituitary gland.
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Negative feedback
A homeostatic process that responds by changing the direction of a stimulus is a negative feedback
loop. The initial stimulus is deviation of a factor away from normal. A negative feedback loop will
always reduce the stimulus. Many animals are regulators and employ negative feedback loops to
maintain their internal environment. For example, a platypus will regulate its body temperature in the
water to counteract changes in the external environment.
For the platypus to maintain its body temperature, certain mechanisms need to be used to return
the body temperature to normal. Negative feedback is extremely important in homeostasis, because
the response always works to restore the internal environment to a constant set of conditions.
Negative feedback is a mechanism that stabilises internal conditions.
Negative feedback can be modelled using a flow diagram. To understand the flow diagram, the
following terminology is helpful.
TABLE 10.3 Parts of a negative feedback model and the roles they play
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NEGATIVE RECEPTOR
FEEDBACK Cells or tissue that
The factor returns detect(s) the stimulus and
to optimal or normal send(s) a message to the
value coordinating centre
COORDINATING CENTRE
RESPONSE
(MODULATOR)
The action of the
Receives a message from the
effector that
receptor, coordinates a
counteracts the
response and sends a
stimulus
message to the effector
EFFECTOR
A muscle or gland that
receives a message
from the control centre
and carries out a
response
This negative feedback model (loop) is an example of a specific factor that can increase or
decrease in its deviation away from normal, but is regulated using negative feedback mechanisms.
Positive feedback
If a response reinforces the original stimulus, the mechanism is referred to as positive feedback.
This process increases the output of the system, further enhancing the deviation from the optimal
or normal value. Positive feedback is rare but necessary during some developmental processes. For
example, the development of frogs and toads is controlled by the hormone thyroxine. Just before
the tadpole changes (metamorphoses) into an adult frog, negative feedback is changed into positive
feedback. The concentration of thyroxine rises and it triggers metamorphosis. Other examples include
blood clotting (platelets releasing clotting factors, which cause more platelets to aggregate at the site
of injury) and lactation (the feeding child stimulating breast-milk production, which causes further
production that continues until the baby stops feeding).
In terms of homeostasis, positive feedback can be harmful. When human body temperature rises
during a fever, a new and higher set point for temperature can be established, and the person may
suffer from heatstroke. If the resetting of the set point continues upwards, cell function is impaired.
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Body temperature
An increase in heat decreases; blood temperature
above normal activates decreases. The hypothalamus
heat-loss centre in the heat-loss centre shuts down.
hypothalamus.
Modulator coordinates
a response.
(sti
mu
lus
)
Blood cooler than
set point in
Effector: smooth muscle contract, causing hypothalamus
Body temperature blood vessels in skin to contract. Blood in
increases; blood temperature capillaries diverted to deeper tissues.
rises. The hypothalamus Minimises heat loss from skin.
heat-promoting centre
shuts down.
FIGURE 10.7 Negative feedback loop for an increase or decrease in body temperature in mammals
Key concept
Skin structure and Feedback mechanisms are triggered by a receptor detecting a stimulus. The information
function is processed by a modulator, and a message is transmitted to an effector to carry out the
Learn more about skin
structure and function
response. Feedback can be positive (reinforce the stimulus) or negative (reduce the stimulus).
Negative feedback is the main mechanism for maintaining homeostasis.
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FIGURE 10.8 The optimal range for an abiotic factor is the range within which an organism functions best.
Organisms can also function in the zone of physiological stress, but not in the zone of intolerance.
For example, dissolved oxygen in the ocean allows many aquatic animals to survive. Fish, crabs,
oysters and other aquatic animals need sufficient levels of dissolved oxygen in the water. The amount
of dissolved oxygen in an estuary’s water is the major factor that determines the type and abundance
of organisms that can live there. When levels of oxygen are within the tolerance range but outside the
optimal range this is known as the zone of physiological stress. Marine life such as crabs and fish can
survive in zones of physiological stress, but they will be lethargic because their respiration rate will
be lower. Oxygen levels below the tolerance range will not be high enough for a lot of marine life to
survive; this is the zone of intolerance. When air and water temperatures increase or there are high
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levels of decomposition of algal blooms, this can lead to oxygen depletion. Many animals and plants
cannot survive when the dissolved oxygen falls to such low levels.
Homeostatic regulation seeks to maintain levels within the optimal ranges. The optimal range
is the set of values for a factor that enables an organism to function best, in its healthiest state, with
optimal growth and reproduction. The optimal range falls within the tolerance range. If oxygen levels
in an estuary are within the optimal range, fish, crabs and other marine life can potentially respire at
their maximum rates possible, leading to high metabolic, growth and reproductive rates.
Key concept
An organism’s tolerance range is the range of external environmental conditions within which
it can survive and maintain homeostasis. The tolerance range includes the optimal (preferred)
range and the zone of physiological stress (less preferred). Outside this range (in the zone of
intolerance) many animals and plants cannot survive.
Temperature
A small increase in temperature can cause an increase in enzyme (protein) activity. This increases the
metabolic rate, because enzymes are biological catalysts. However, a significant increase (to 40–50°C
in mammals) can cause enzymes to denature, leading to critically slow cell metabolism. Cells can
Homeostasis: blood
sugar and temperature die. When human body temperature reaches 37.7–39.2°C, cognitive skills start to decline. The
Recall the effect of person experiences heat stress, heat exhaustion, and finally heat stroke (if temperature increases to
temperature on enzyme 39.2–39.6°C). At high temperatures, cell membranes become too fluid, allowing some unwanted
activity and therefore on
metabolic activity rate. substances into cells, or wanted substances out of cells. In plants, photosynthesis can slow down
significantly when enzymes denature. This affects plant growth and productivity.
A decrease in temperature below the optimal range can lead to a decrease in enzyme activity,
which results in a decrease in metabolic rate. The action of some other proteins may decrease as
well. For example, uptake of oxygen by the haemoglobin protein can be less effective, leaving animals
feeling sluggish. At low temperatures, cell membranes can become rigid (rather than fluid), slowing
the transport of substances across them.
When there is a decrease in temperature below the tolerance range, mammals can suffer
hypothermia and sometimes even lose limbs. Some animals may survive but cannot reproduce until
temperatures return to within their tolerance range.
Nitrogenous waste
Proteins and nucleic acids are required by organisms for survival. They both contain nitrogen. When
organisms break down proteins and nucleic acids, a highly toxic nitrogenous waste is formed, known
as ammonia. Most terrestrial animals convert this to urea, but urea still needs to be dissolved in water
and excreted because it is moderately toxic. (The nitrogenous waste that is least toxic is uric acid,
which requires very little water for its excretion but is made at an energy cost.) As nitrogenous wastes
increase in concentration, they become more toxic.
An increase in ammonia in the blood can lead to an increase in pH. Enzymes can only function
within a certain pH tolerance range, and they perform at their peak within an optimal pH range. When
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the cellular pH is outside the optimal range, enzyme activity can decrease. When the cellular pH is
outside the tolerance range, the enzymes can denature, resulting in critically slow metabolism.
High levels of nitrogenous waste can also affect the water balance. Cells may lose water to dilute
the waste in an attempt to maintain pH homeostasis.
Water
Water is the universal solvent. It dissolves salts and minerals by breaking salts into ions. For example,
sodium chloride (NaCl) can be dissociated (dissolved and separated) into Na+ and Cl– ions. The ions are
then ready to partake in metabolic processes. Metabolic reactions occur in a solution composed mostly
of water. An increase in water content (and a decrease in ion concentration) leads to a decrease in the
collision rates of the reactants involved in the biochemical pathways, slowing metabolism. Too much
water results in an inability to regulate the concentration of solutes such as salts.
The movement of water across a semipermeable membrane from an area of high concentration
of water (low concentration of solute) to an area of low concentration of water (high concentration
of solute) is called osmosis. An increase in water content to above the tolerance range will lead to a
hypotonic (lower than normal solute concentration) solution surrounding the cells in the blood and
in the tissues. Water will then move into the cells down a concentration gradient in order to reach
equilibrium. If too much water enters the cells, animal cells can swell and burst (cell lysis), and plant
cells can swell. If cells swell, the resulting solute concentration can be too low, leading to a decrease
in collisions of reacting particles, slowing the rates of reactions. Thus, if the concentration inside cells
becomes too dilute, there are insufficient interactions between enzymes and substrates.
Too little water inside cells also results in an inability to regulate the concentration of solutes such as
salts. A hypertonic (higher than normal solute concentration) solution surrounding cells in the blood and
in the tissues may lead to water moving out of the cells by osmosis. This leads to dehydration. Cells can
shrink and plant cells can undergo plasmolysis. Plasmolysis is the term used when the cell membrane
of a plant cell has pulled away from the cell wall due to water moving out of the cell. In an environment
that has a water content below the tolerance range, ions are unable to move to their reaction sites at a
fast enough rate, slowing the metabolic rate. The cells are then unable to regulate the concentrations of
solutes (leading to an increase in osmotic pressure). Toxic waste cannot be excreted effectively, leading
to an increase in pH, which affects enzyme activity. In animals, blood plasma is 90% water. It transports
nutrients to cells and waste products away from cells. A decrease in water content can slow the rate of
transportation. When cells are surrounded by fluid of the same water concentration, the surrounding
solution is described as isotonic and there is no net movement of water.
Salts
Salts dissociate (dissolve and break apart) into ions. Ions such as sodium (Na+) and calcium (Ca+) are
required to be in concentrations within a fairly narrow range for normal activity of muscles, neurons
(nerve cells) and other body cells. If the salt concentration increases on the outside of cells, water
may be transported out of the cells by osmosis. This leads to cell shrinkage and dehydration. Salts are
needed at optimal levels in order to regulate water balance.
Calcium, for example, triggers muscles to contract. Low calcium levels in the blood can lead to
cramping in the legs and back. Low blood sodium levels affect water balance, blood pressure and the
nervous system. If the Na+ concentration drops too low outside cells, water moves into the cells, the
cells swell with too much water, and this can lead to weakness, fatigue and confusion.
Gases
Living cells need a continuous supply of oxygen in order to carry out respiration for energy production.
Carbon dioxide is a waste product of respiration. It readily dissolves in water, forming carbonic acid
–
(H2CO3), and then further dissociates to form hydrogen ions (H+) and bicarbonate ions (HCO3). High
levels of carbon dioxide can lead to a high concentration of H+ ions in solution, which lowers the
pH of the blood, making it more acidic. pH is a measure of how acidic or alkaline (basic) an aqueous
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solution is. It is also a measure of the hydrogen ion concentration. Solutions with a pH of 7 are neutral.
If the pH is above 7 the solution is alkaline, and if the pH is below 7 the solution is acidic. In the case of
mammals, the blood pH lowers when the carbon dioxide level is high. The excess carbon dioxide needs
to be removed as quickly as possible, because this lowering of pH affects homeostasis and can reduce
enzyme activity rate or even denature enzymes. If the carbon dioxide level gets too low, it leads to a
lower ventilation (breathing) rate in animals and a lower rate of photosynthesis in plants.
It can also be toxic when oxygen increases above the tolerance range in animals. The gas can
diffuse straight into cells. A high level of oxygen can cause cell damage, nausea, dizziness and
breathing problems. If, on the other hand, the oxygen gets too low, this leads to a reduction in the
respiration rate and thus the rate of ATP (energy) production.
TABLE 10.4 Summary of potential effects on organisms when internal factors deviate away from their tolerance ranges
concentration and
Pepsin
become more toxic.
2 An increase in
ammonia (a base)
in the blood can
lead to an increase
1 2 3 4 5 6 7 8 9 10
in the pH of body
Acidic pH Basic
fluids.
Different enzymes work best at different pHs. If the
3 Enzyme activity can pH changes too far from this optimum, the bonds holding
decrease; enzymes the enzyme together weaken, changing the shape of the
active site so the enzyme becomes denatured.
will denature if the
pH gets too high. FIGURE 10.10 Summary of potential effects of pH outside the pH
4 High levels of tolerance range
nitrogenous waste
can affect water
balance. Cells may
lose water to dilute
the waste, affecting
water homeostasis.
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+ + + +– – – – + + + + + +
FIGURE 10.12 Salts are needed at optimal levels for the normal activity
of neurons.
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redimsoK kyrtaP/moc.kcotsrettuhS
and can reduce (breathing) rate in
enzyme activity animals and a lower
rate or denature photosynthesis rate in
enzymes. plants.
3 When the O2 level
increases above the
tolerance range in
animals, this can FIGURE 10.13 Low blood oxygen levels can cause French bulldogs to
be toxic. It can develop blue gums (due to their short nose and narrow nostrils).
cause cell damage,
nausea, dizziness
and breathing
problems.
Physiological processes
Physiological processes are the functional processes performed by organisms. Cells, tissues and
organs perform functions to help maintain homeostasis. Physiological processes maintain a balanced
internal environment through monitoring and adjusting as conditions change. The physiological
processes involve the three main parts of a negative feedback system – receptor, control centre and
effector.
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As muscles contract and release more rapidly, the demand for oxygen and glucose increases.
These two reactants are substrates for cellular respiration and supply cells with energy. Carbon
dioxide is a by-product of this catabolic reaction, along with heat. As activity increases, the carbon
dioxide levels and internal temperature rise. Physiological mechanisms are in place to minimise these
changes. One way to reduce carbon dioxide concentration is by increasing the breathing rate. This
mechanism passes more blood through the lungs, releasing the carbon dioxide into the external
environment. The blood is also oxygenated faster, which maintains cellular respiration throughout the
activity.
The changed internal temperature is detected by thermoreceptors in the hypothalamus, which
signals to the sweat glands to become active, removing excess body heat.
FIGURE 10.14 The desert spadefoot has moist, FIGURE 10.15 A desert spadefoot emerges from its
delicate skin but lives in the desert. burrow underground.
Key concept
Homeostatic adaptations that work to maintain tolerance limits can be physiological,
structural or behavioural.
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10.4 THERMOREGULATION
Thermoregulatory mechanisms also include structural features, behavioural responses and
physiological adaptations to control heat exchange and metabolic activity. Animals and plants must
control heat exchange and metabolic activity in order to survive. Life is found over a broad range of
temperatures in the biosphere of Earth, which can vary from –75°C to above 50°C. However, most
individual species can only survive within a relatively narrow range of temperature, and many cannot
exist in habitats that have greatly varying temperatures. Their structural, behavioural and physiological
adaptations help them to maintain their temperature within this narrow range. Within their tolerance
range, each species has an optimal temperature range at which it functions best. Thermoregulation is
critical for survival, because most biochemical and physiological processes are temperature sensitive.
For every 10°C increase in temperature, most enzyme-mediated reaction rates decrease by 50–65%.
Some mechanisms that plants use to control heat exchange and metabolic activity are listed in
Table 10.5.
FIGURE 10.16 The Australian snow gum (Eucalyptus pauciflora) FIGURE 10.17 The pink spike hakea (Hakea coriaceae)
Its thick, leathery, waxy leaves reduce heat loss by providing Its narrow, vertical leaves minimise the amount of direct sunlight
insulation against the cold climate. hitting them and thus minimise heat absorption during hot desert
days.
(The leaves also increase the hakea’s resistance to cold
temperatures and frosts, which deserts can experience at night.)
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Different animals have different optimal internal temperatures. These are the temperatures at
which their enzymes work efficiently. In mammals, if internal temperatures rise much above the set
point, the enzymes denature, metabolic processes fail and the individual suffers from hyperthermia.
Conversely, if body temperatures fall, enzyme function slows significantly and the individual suffers
from hypothermia. Organisms use a variety of thermoregulatory processes to maintain homeostatic
internal body temperatures.
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TABLE 10.6 Comparing the costs and benefits of endothermic and ectothermic thermoregulation
ENDOTHERMS ECTOTHERMS
Cost To maintain a stable internal temperature, they Body temperature is dependent on the external
may have a higher metabolic rate. environment.
They need to spend more energy to maintain a These animals are limited to living in
higher metabolic rate. environments with less extreme temperatures.
This results in higher food requirements and They cannot tolerate very high or very low
more time spent finding food. external temperatures.
Benefit Body temperature is independent of external Their heat source is mainly the environment, so
temperature. there are lower energy requirements for these
This enables endotherms to live in more extreme animals.
environments. Therefore, they need to consume less food.
They can be active at night (when some They can spend less time hunting for food.
ectotherms are not) or more often during the day They can tolerate larger fluctuations in their
and in cold weather. internal body temperature compared with
Being more active may reduce the chance of endotherms.
predation.
Key concept
Animals can be described as endothermic or ectothermic. Endotherms are able to generate
their own heat to maintain their internal temperature. Ectotherms cannot maintain their own
internal temperature and rely on external sources for gaining and losing heat.
Heat transfer
Heat transfer depends on the temperature gradient between the internal and external environments.
When there is a balance between heat gain and heat loss, the organism is said to be in heat balance,
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a Sun b
36°C 36°C
Convection
(wind) Reflection
60°C 20°C
Conduction Conduction and
Conduction from ground to ground radiation to ground
FIGURE 10.19 Heat transfer for a lizard a during the day and b temperature loss at night
Thermoregulation in plants
It is not only animals that can regulate their body temperature. There are some plants that regulate
their body temperature. The lotus, Nelumbo nucifera, found in the Northern Territory, is able to
warm up and regulate its temperature. A bud starts heating up until it reaches approximately 32°C.
Its petals start to open, then its temperature will remain constant for 2–4 days, despite fluctuating
external temperatures. Just as would happen in a mammal, in the cool of night the plant increases its
metabolic heat production, and in the heat of the day evaporative cooling comes into play.
Key concept
Thermoregulation is essential for an organism’s survival. Heat energy can be lost or gained in
the following four ways: conduction, convection, evaporation and radiation.
Structural features
Structural features such as dolphin flukes and elephant ears can help cool endotherms when needed.
Each half of a dolphin’s tail is known as a fluke. When the dolphin is hot, there is increased blood
circulation in the tail. The flukes contain many blood vessels just under the skin and so are said to be
highly vascularised. They are also very thin, so have a high surface-area-to-volume ratio. The heat
energy travels via the blood from the core
of the body to the tail, where it is released
to the cool water by conduction from the
blood vessels.
In lieu of sweat glands, elephants, Key adaptation –
the largest of Earth’s terrestrial animals, cooling ears
rely on other physical and behavioural Read about how
elephants have
adaptations to keep their massive bodies adaptations to keep cool
from overheating. When their surroundings
Behavioural responses
To reduce heat gain, dingoes, birds and rock wallabies normally shelter from high temperatures
and reduce their activity, only emerging to feed in the relative cool of dusk and dawn. Avoiding
strong sunlight, such as by resting in the shade, reduces heat gain via radiation from the sun and via
conduction from hot objects such as rocks.
A number of species of wallabies and kangaroos lick their wrists where the blood vessels form a
dense network close to the surface. Even though this means loss of precious water, the evaporation
has a cooling effect. The water on the surface of the skin draws heat energy from the body for the
change of state from liquid water to vapour. The vapour diffuses into the surrounding air. This is called
evaporative cooling.
Other animals such as pigs and hippopotamuses roll in the mud to cool themselves down. As the
water in the mud evaporates from their skin, it carries away heat in the same way that sweat does in
humans.
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a b
eiruoF sirhC/moc.kcotsrettuhS
FIGURE 10.22 The behaviour of a red kangaroos and b dingoes helps them thermoregulate in the heat of Australia.
c The burrow is a refuge for meerkats because it stays within a narrower temperature range than the air outside, and
it is suited to their tolerance range.
Crocodiles are ectotherms that shelter in cool vegetation lining river banks or submerge
themselves in the water. They also open their mouths, enabling evaporation from internal surfaces.
During cool seasons, they bask in the sunshine to get hot enough to digest their meals.
Echidnas are excellent diggers. Their backward-facing hind legs are unique physical features
that push the dirt out of the way. In the burrow, echidnas are protected from harsh weather
and can reduce heat gain from the sun’s radiation. The cool burrow also enables heat loss via
conduction.
Meerkats use burrows for thermoregulation. During the day, when the temperature becomes
too hot to continue foraging, they return to the burrow for the shade and cool that it offers. The
burrow also assists them at night, when outside temperatures fall below the optimal range, because
the temperature in the burrow does not drop as low as the temperature on the surface.
When the daytime heat gets to be too much, elephants enjoy submerging their bodies in water,
as well as showering, which entails sucking water in with their versatile, muscular trunks and then
spraying themselves. In addition to helping elephants rid their thick skin of parasites, bathing is
also an effective way for these enormous animals to reduce their body temperature. Heat from
their bodies is transferred to the cooler water via conduction. Thanks to their moisture-retaining
wrinkled skin, the cooling effect of a bath or shower continues even after the elephant has left the
water.
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Physiological adaptations
Many endotherms, such as the red kangaroo, have a number of physiological adaptations for losing
heat. When the temperature in the surroundings increases, several physiological responses occur.
Nerve impulses stimulate the muscles of certain blood vessel walls to relax, causing the arterioles to
dilate (vasodilation). This means the blood vessels close to the surface of the skin widen, which allows
an increase in blood flow close to the skin’s surface, and heat to escape from the blood through the
skin via radiation and convection. Vasodilation is a mechanism for cooling the body and counteracts
any increase in internal body temperature above the optimal range. A negative feedback model can
be drawn to represent the mechanism at work (Figure 10.23).
STIMULUS
Increase in external
environmental
temperature above
optimal range
NEGATIVE RECEPTOR
FEEDBACK Thermoreceptor cells in the
Internal temperature returns skin detect the change in
to normal or optimal value. external temperature and
The mechanism counteracts send a message to the
the stimulus. control centre.
EFFECTOR
Smooth muscle cells
within the wall of the
blood vessels relax,
widening the arterioles.
FIGURE 10.23 Negative feedback loop for a physiological response to increased external environmental
temperature
Organisms also use sweating in the heat – their sweat glands open to release water and salt onto
the skin, which evaporates and cools the skin. The evaporated water carries away the heat energy
from the body and lowers the internal temperature. This is evaporative cooling. Horses and primates
(e.g. humans and monkeys) have large numbers of sweat glands. Other mammals such as kangaroos,
pigs, hippopotamuses, dogs and cats do not have many sweat glands and need to employ other
mechanisms for temperature control. Many animals, such as dogs, pant to keep cool. Panting expels
hot air and brings in cooler air, which then helps moisture in the mouth to evaporate quickly, reducing
body temperature.
Another response used by endotherms is a decrease in the metabolic rate, which reduces the
amount of heat generated within the body. Finally, the muscles attached to hair follicles can be relaxed
to flatten the hairs and decrease the layer of air acting as an insulator. This is known as pilorelaxation.
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Solar radiation
Sweating
Radiation and
convection
Conduction
Internal
convection
Muscle
contraction
Metabolism
Breathing
Ground radiation
Solar reflection
CASE
STUDY
Bilby burrows – important for thermoregulation and hugely
important to the ecology of the surrounding habitat
One of Australia’s most iconic marsupials regions in WA, Queensland and the Northern
is the greater bilby (Macrotis lagotis). Its Territory.
Fun facts about bilbies
signature long ears and soft grey fur make Currently, the greater bilby’s conservation
Watch this footage of the bilby highly recognisable. The greater status is rated as vulnerable to extinction.
bilbies. Their burrows bilby once occupied around 80% of Australia’s Several conservation strategies have saved the
are vital for temperature terrestrial arid environment. After decades species from the same peril as the lesser bilby,
regulation.
of habitat loss and predation by introduced presumed extinct. However, Stuart Dawson,
species such as cats and foxes, bilbies are a bilby researcher at Murdoch University,
now only found in a small number of desert suggests conservation strategies need to
nosirroM geR/devreser sthgir llA .epacsuA
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CHAPTER 10 | Homeostasis and thermoregulation 357
be strengthened to match the important of other animals (mammals, birds and reptiles)
role that bilbies play in its ecosystem. The entering and exiting the burrows.
bilby’s deep, twisting type burrows serve as a The inference was made that the Bilby conservation
breeding program
thermoregulatory sanctuary for over 40 other animals were using the burrows to A successful
species, such as reptiles. When an animal is stay cool. Bilbies provide an important conservation program
absorbing too much heat, it can enter the ecosystem service, because their burrows is happening at
Currumbin Wildlife
burrow to avoid some of the heat gain that provide a facility for thermoregulation. If Sanctuary.
would occur outside. bilby population numbers decrease, the University of
Bilbies build their burrow-shelters to prediction is that there will be a negative Melbourne
reduce heat gain from the radiating sun and impact on other animal species that rely on See how scientists from
to increase heat loss by conduction directly to the cool burrows. Melbourne University
have teamed up with
the cool rock inside the burrow. Temperatures
in their outback habitat in WA regularly reach Questions Indigenous rangers
to protect the greater
40°C. Bilbies have other thermoregulatory 1 Describe the role of a bilby burrow in bilby.
mechanisms that act in conjunction with their thermoregulation.
burrowing, such as their ear structure. Bilbies 2 Describe the role of a bilby burrow in the
have long, thin, highly vascularised ears that ecology of a habitat.
help radiate excess heat. 3 Explain how the bilby’s ears can help its
Scientists have observed bilby burrows by thermoregulation.
using cameras with motion sensors. A study 4 Stuart Dawson would like more funding,
conducted in northern WA collected footage research and conservation for bilbies.
over a period of 3 years and recorded hundreds Construct an argument for his cause.
Structural features
The feathers of mutton-birds and the fur of polar bears aid thermoregulation by trapping an
insulating layer of air close to the skin. Insulation reduces the heat flow between an animal’s body
and its environment. Insulation is found on the surface, in thick fur and feathers, and beneath the
surface of the skin, in thick layers of fat (blubber) formed by adipose tissue. Most land mammals and
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birds respond to a decrease in external temperature by raising their fur or feathers. This is called
piloerection, and the process is a physiological mechanism made possible by the structural feature
of the thick layer of fur. This traps a thick layer of air, which creates effective insulation, reducing
Homeostasis: blood
sugar and temperature heat loss to the cooler environment. A polar bear generates heat via metabolic processes to keep
Complete this its internal body temperature stable. Instead of losing this heat to the surroundings via radiation and
interactive to observe
the changes in conduction, it remains warm because it is so well insulated by its thick
Artery Vein
skin structure and fur that heat loss is practically nil. The emperor penguin is well insulated
function at different by several layers of scale-like feathers, and it takes a strong wind to
temperatures. 30°C 29°C
ruffle them. Although they don’t have feathers under their feet, emperor
penguins are able to stand on ice for long periods (Figure 10.27). For
details of an adaptation that allows this, see Figure 10.28. 25°C 24°C
20°C 19°C
15°C 14°C
10°C 9°C
Variation throughout the year in fur thickness of animals such as French bulldogs and horses is
another adaptation that can assist with thermoregulation in challenging environmental conditions.
When temperatures cool, frilled-neck lizards turn darker. Dark colours increase heat absorption
from the sun via radiation.
Aquatic birds and mammals can be subjected to very cold environments. Heat loss via conduction
from the extremities to the aquatic environment is a problem. Fortunately, they have a very effective
system of keeping their extremities warm – countercurrent heat exchange. Countercurrent heat
exchange is the exchange of heat between two fluids flowing in opposite directions in vessels that are
in close proximity (located close enough for interaction). Heat in the blood travelling in the arteries to
the foot or fin warms the blood returning to the body in the adjacent veins. The outgoing blood to the
extremity is cooled in the process, but not enough to affect cellular activities. Since the temperature
gradient between the extremity and the surroundings is reduced, heat loss is minimised (Figure 10.28).
A temperature gradient is produced when two objects in close proximity have different temperatures.
The difference in heat energy between the two objects causes heat to travel in one direction, from the
hotter object to the cooler object. The countercurrent strategy traps heat in the body core, reducing
heat loss in the extremities. Extremities are limbs (arms or legs) that extend away from the core of the
body. They contain the outermost regions of an animal’s circulatory system and include the hands
and feet. They are relatively susceptible to heat loss due to their high surface-area-to-volume ratio.
To understand countercurrent heat exchange, it is necessary to apply your knowledge of the
circulatory system. Arteries carry warm blood away from the heart at the core of the body to the
extremities. Veins carry cooler blood back to the core from the extremities. Arteries and veins are
located adjacent to each other, close enough for heat to be transferred by conduction and radiation.
In addition, arteries and veins carry blood that flows in opposite directions, which means there is
always a high temperature gradient between them. The ‘counter’ flow of the blood leads to heat
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being exchanged all the way along the length of the exchanger (adjacent artery and vein), increasing
the efficiency of the system to a higher rate than if the blood was flowing in the same direction. The
result is maximum heat transfer and minimum heat loss to the environment. This structural adaptation
can also be found in the flipper of a dolphin.
The shape and size of an organism can help to maintain homeostasis and internal temperature.
Large, round animals have a lower surface-area-to-volume ratio than small, thin animals. Adaptations
that reduce the surface-area-to-volume ratio reduce heat loss, because there is less surface area
per unit volume for heat to transfer through. For example, some bird species in Tasmania tend to
be larger than their counterparts on the warmer mainland. The larger size means less surface area
is exposed per unit volume, resulting in reduced heat transfer via convection or radiation to the air.
Having comparatively small extremities such as ears and legs can reduce the rate of heat loss. The
ears and limbs of Arctic foxes are more rounded and smaller than those of their relatives elsewhere
(Figure 10.29).
a b c
kaidruB rymydoloV/moc.kcotsrettuhS
FIGURE 10.29 Ear shape and size differ between a the Arctic fox and its relatives, b the red fox and c the gray fox.
The Australian alpine grasshopper adult male will change the colour of its body surface to help
regulate its body temperature in different seasons. At temperatures above 25°C the colour is a bright,
greenish blue to reduce heat gain by radiation, and at temperatures below 15°C it is a dull, black
colour to increase heat gain from the sun’s radiation.
Behavioural responses
Animals can reduce heat loss by minimising the amount of surface area exposed to the surroundings.
For example, by huddling together, penguins reduce the group’s overall surface-area-to-volume
ratio. (They move around within the huddle to prevent any individual from being exposed to the harsh
environment for an extended period of time.) Animals can also maximise their heat gain through their Frogs and geckos
Investigate WA frogs’
behaviour. The freshwater crocodile will choose to bask in the sun when it is cold, to gain heat from and geckos’ behaviour
the sun via radiation. Additionally, if it is lying on a hot rock, heat will be absorbed by the body via and the adaptations
conduction from the rock. When the blue-tongue lizard basks in the sun on a hot rock, it will lie flat to they have developed
by watching this video
expose more of its body’s surface area to the sun and to the rock, maximising the rate of heat transfer on the WA museum
via radiation from the sun and conduction from the hot rock. website.
Physiological adaptations
Nerve impulses can stimulate the smooth muscle of blood vessel walls to contract, causing the
arterioles to constrict (vasoconstriction). This makes the blood vessels close to the surface of the
skin narrow (decrease in diameter), which results in a decrease in blood flow close to the skin’s
surface and reduces the amount of heat escaping from the blood through the skin via radiation and
convection. Vasoconstriction is a mechanism for reducing heat loss and it counteracts any decrease
in internal body temperature below the optimal range. A negative feedback model can be drawn to
represent the mechanism at work (Figure 10.30). Vasoconstriction reduces blood flow in peripheral
blood vessels, forcing blood towards the core and the vital organs found there, conserving heat.
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STIMULUS
Decrease in external
environmental temperature
below optimal range
NEGATIVE RECEPTOR
FEEDBACK Thermoreceptor cells in the
Internal temperature returns skin detect the change in
to normal or optimal value. external temperature and
The mechanism counteracts send a message to the
the stimulus. coordinating centre.
COORDINATING CENTRE
RESPONSE (MODULATOR)
Vasoconstriction – reduced The hypothalamus receives a
blood flow in the vessels message from the receptor,
close to the surface of the coordinates a response and
skin – reduces heat loss via sends a message to the
radiation. effector.
EFFECTOR
Smooth muscle cells within
the walls of the blood vessels
contract, reducing the
diameter of the arterioles.
FIGURE 10.30 Negative feedback model for a physiological response to a decrease in external temperature
Metabolic heat production can be used to regulate body temperature. Many animals, especially
mammals, use metabolic waste heat as a heat source. When muscles are contracted, most of the
energy from the ATP used in muscle actions is wasted energy that translates into heat. Endotherms
can vary heat production to suit varying external temperatures.
Shivering is a reflex action activated in many mammals during extremely cold conditions. The
high rate of contraction and relaxation of muscles generates heat that can be used to regulate the
internal body temperature during the cold period.
Sometimes behaviours and physical features are inadequate for stabilising temperature. At a
particular external temperature set point, the metabolic rate of an animal begins to rise, increasing
heat output. The external temperature at which the metabolic rate begins to rise is the lower critical
temperature, which varies according to species (Figure 10.31). The increase in metabolic activity
requires a supply of energy, which for some animals proves difficult if food is scarce.
Upper critical
temperature
etar cilobateM
Lower critical
temperature
Basal
metabolic
rate
10 20 30 40
Environmental temperature (°C)
FIGURE 10.31 The effect of environmental temperature on the metabolic rate of a generalised mammal
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In very cold conditions, the increase in metabolic rate may be insufficient to maintain body
temperature within tolerance limits. A major adaptation that enables animals to save energy, when
food is scarce and temperatures are very cold (or very hot), is torpor. Torpor is a physiological state of
decreased metabolic rate and physical activity.
Many Australian birds and small mammals exhibit a daily torpor. For example, some native bats
are active at night for feeding and go into a state of torpor during the day. Torpor reduces energy and
water costs for the animal. Another animal that exhibits torpor is the hummingbird, whose internal
body temperature can drop significantly during torpor, reducing energy expenditure on metabolic
heat production. Other animals in very cold conditions may hibernate, spending a longer period in
torpor. During hibernation, the metabolic rate falls to a level that just sustains life; the set point is
lowered considerably – an excellent mechanism for conserving energy (Figure 10.32). The upper
critical temperature is the external temperature at which the body’s cooling mechanisms fail.
Body temperature 30
)etar cilobatem lasab
80 20
10
60 0
40
Metabolic rate
20
7
0
0 6 12 18 0 6 12
Weeks
Hours Time Hours
FIGURE 10.32 Metabolic rate and body temperature of a ground squirrel before, during and after hibernation
Another kind of seasonal dormancy is aestivation (long-term torpor). This describes what some
animals do in very dry conditions, but not necessarily in summer. The garden snail retreats into its
shell and seals itself off; some earthworms coil into balls wrapped in mucus that dries out. Lungfish
burrow in mud that hardens, and there they remain until the next rainy season, some months later.
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Key concept
Animals and plants have developed adaptations in order to survive in different temperatures.
In hot temperatures, thermoregulatory adaptations aim to increase heat loss and reduce heat
gain. In cold environments, they aim to reduce heat loss and increase heat gain. The adaptions
involved can be behavioural, structural or physiological.
environment?
A large number of species currently face extinction. Scientists assert that climate change
is a major factor producing this trend. Climate change refers to a significant change in the
global climate, as observed in the average and variability of such features as temperature and
precipitation, which lasts for a long time, typically decades or longer. Increases in average
global temperature as a result of climate change are linked to sea level rises and increasingly
extreme weather conditions. These changes are impacting biotic and abiotic factors that enable
organisms to survive. Some species are predicted to be more at risk from these changes than
others.
Cockroaches are a group of
organisms that have an outstanding
track record for surviving extreme
conditions. They have already survived
physiological. Just how much capacity extinction event in history thus far.
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Questions
1 From the data in Table 10.8, list some symptoms experienced by humans when internal
body temperature exceeds normal by 2°C.
2 Using your knowledge of enzymes explain some of the symptoms.
3 Name an animal that can survive extreme changes in environmental conditions.
4 Explain why your named animal has a higher chance of survival than the rock wallaby.
CHAPTER 10 ACTIVITY
10.1 Water balance in animals
Aim
YTIVITCA
0 50
Sucrose concentration in surroundings (mmol L-1)
FIGURE 10.34 The relationship between the time between vacuole contractions and the concentration of sucrose
in the surrounding solution
Analysis of results
1 When a Paramecium lives in its normal freshwater environment, it is subjected to a continuous
influx of water. Explain why.
2 Describe what happens to the time between vacuole contractions as the concentration of the
surrounding sucrose solution increases.
3 How would the rate of water expulsion from Paramecium change as the osmotic pressure of the
surroundings increased (solutes became more concentrated)?
4 How could you tell when Paramecium was in an isotonic solution?
5 Using information from the experiment, explain how the contractile vacuoles in Paramecium
enable the cell to maintain a steady internal solute concentration.
6 Would this process of osmoregulation continue if the energy supply of the cell was cut off?
Explain.
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CHAPTER 10 SUMMARY WS
• Homeostasis is the maintenance of a functions best; outside this range is the zone Chapter 10
relatively stable internal environment of physiological stress, within which it can Activity sheet
within a small tolerance range, despite survive. Outside that range, in the zone of
changes in the external environment. intolerance, it cannot survive.
• Multicellular organisms contain receptors • Adaptations allow organisms to maintain
that are highly specialised for receiving homeostasis within their tolerance limits.
signals from the external and internal They include physiological processes,
environments. structural adaptations and behavioural
• The nervous system provides a fast response functions.
to stimuli transmitted via sensory neurons • The main factors regulated within
in the PNS to the CNS and back via motor the tolerance limits are temperature,
neurons in the PNS to effectors (muscles nitrogenous waste, water, salts and gases.
and glands). • Thermoregulation is essential for
• The endocrine system provides a relatively preventing hyperthermia and hypothermia.
slower, long-lasting response involving the Vertebrates have physiological
release of hormones. It is mainly controlled mechanisms, structural features and
by the pituitary gland. behavioural strategies that aid the
• The nervous and endocrine systems react to regulation of core body temperature.
changes in stimuli and respond to them (the • Organisms can be classified as endotherms
stimulus–response model). or ectotherms.
• Negative feedback counteracts a change in • Heat energy can be transferred in four ways:
a stimulus to maintain internal pH, water conduction, convection, evaporation and
and solute concentrations within narrow radiation.
limits. • Mechanisms for thermoregulation in a hot
• Positive feedback reinforces a change in environment include sweating, vasodilation,
a stimulus and is seen in developmental panting, large round body shape, and
processes. Positive feedback can be harmful increased breathing rate for further
to homeostasis. evaporative cooling.
• Organisms must keep inorganic and organic • Mechanisms for thermoregulation in a cold
materials, pressure and temperature within environment include shivering, adjusting
narrow limits for survival. These limits are to a higher metabolic rate, vasoconstriction,
known as tolerance limits. Each organism countercurrent heat exchange, torpor and
has an optimal range within which it piloerection.
CHAPTER 10 GLOSSARY
Adaptation An evolved structural, Axon The extension from a neuron cell body
physiological or behavioural characteristic of an along which an electrical impulse can travel
organism that increases its chances of survival towards a target cell
and reproduction in a particular environment Behavioural adaptation An adaptation that relates
Aestivation Long-term torpor; dormancy that to how an organism acts in response to a stimulus
occurs in some animals during periods of Catabolic reaction A chemical (metabolic)
drought; reduced metabolic rate reaction whereby bonds in molecules are
Ammonia The direct product of the breakdown broken, releasing energy
of protein or nucleic acids; it is extremely toxic Chemoreceptor A sensory cell or organ that
and highly soluble in water detects chemical stimuli
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Close proximity Located close enough for Evaporation The process in which liquid water
interaction changes to water vapour through heating
Conduction The transfer of heat energy from a Evaporative cooling A mechanism of heat
relatively hot object to a relatively cool object by transfer from an organism to its surroundings.
direct contact Water on the surface of the skin draws heat
Convection The transfer of heat by means of energy from the body for the change of state from
rising currents of warm air or water liquid water to vapour. The vapour diffuses into
the surrounding air, taking heat away from the
Coordinating centre (modulator) A tissue or
body and cooling the body down
organ that receives messages from receptors (via
sensory neurons) and coordinates a response, Extremities The ends of limbs (arms or legs)
then sends the information to an effector via that extend away from the core of the body;
motor neurons; usually the hypothalamus extremities contain the outermost points of an
animal’s circulatory system and can include feet
Countercurrent heat exchange The exchange
of heat between two fluids flowing in opposite and hands
directions in vessels that are in close proximity Feedback mechanism A mechanism in which
Ectotherm An animal whose body temperature the output or response affects the input or
is determined by the external environment. stimulus
Ectotherms rely on structures and behaviours Hibernate A period of dormancy over a long
for thermoregulation. Ectotherms may obtain period of cold conditions
heat from the sun or from objects in their
Homeostasis The processes involved in
surroundings, which means their body maintaining a constant internal environment,
temperature fluctuates with that of the external within tolerance limits, despite changes in the
environment internal and external environment
Effector A muscle or gland that receives a
Hyperthermia A state in which an organism’s
message from the control centre that a change
internal temperature rises above the upper
in a stimulus has occurred, then carries out a
tolerance limit
response
Hypertonic At a higher concentration than
Endocrine system The bodily system responsible
another solution. When a cell is surrounded by
for the production and secretion of hormones,
a hypertonic solution, water moves out of the
which are released into the bloodstream to act on
cell via osmosis to dilute the surroundings, so
specific target cells and organs
the cell shrinks
Endotherm An animal that uses metabolic
processes to generate its own heat to maintain Hypothalamus A small region of the brain that
plays a major role in detecting and coordinating
its internal temperature within the tolerance
the response to a change in e.g. temperature or
range. Endotherms also have a range of
water content in the blood
adaptations that serve as mechanisms for
controlling heat gain or loss. Within tolerance Hypothermia A state in which an organism’s
limits, animals such as birds and mammals internal temperature drops below the lower
can maintain a stable internal temperature tolerance limit
independent of external temperature Hypotonic At a lower concentration than
fluctuations another solution. When a cell is surrounded
Enzyme A reusable, biological catalyst that by a hypotonic solution, water moves into the
lowers the activation energy of chemical cell via osmosis to dilute the cell, so the cell
reactions, making them proceed faster; it is swells. (Animal cells, which have no cell wall,
a protein that is sensitive to factors such as sometimes burst.)
temperature and pH Insulation Any structure that reduces the
Estuary A transitional region in which fresh heat flow between an animal’s body and its
water from a river meets salt water from the sea environment, including thick fur or feathers,
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and beneath the surface of the skin, thick layers Panting A method of cooling through
of fat (blubber) formed by adipose tissue evaporation of water from internal body surfaces
via exhalation
Interconnecting neuron Located in the central
nervous system, a nerve cell that transfers pH A measure of how acidic or alkaline (basic)
signals from sensory neurons to motor neurons an aqueous solution is. It is a measure of the
hydrogen ion concentration. Solutions with
Interstitial fluid The fluid that lies in the spaces
between cells; also known as tissue fluid a pH of 7 are neutral. If the pH is above 7, the
solution is alkaline; if the pH is below 7 the
Isotonic At the same concentration as another
solution is acidic.
solution. If a cell and its surrounding solution
are isotonic, there is no net movement of water Photoreceptor A sensory cell or organ that
between them and the cell maintains a constant detects light signals
volume Phototropism A plant’s hormonal response to
Mechanoreceptor A sensory cell or organ that light, whereby auxin accumulates on the darker
responds to mechanical stimuli side of the plant to stimulate cell elongation,
bending the plant towards the light to increase
Metabolism The sum of all the chemical
its ability to photosynthesise
reactions occurring within an organism to
maintain life; it includes reactions enabling Physiological process A functional process
an organism’s growth, homeostasis and that is performed by organisms to maintain
reproduction life
Motor neuron A nerve that transmits impulses Physiological stress Stress caused when an
from the central nervous system to an effector organism experiences conditions outside its
optimal range
Myelin sheath The fatty layer surrounding
and insulating the axons of many neurons; it Piloerection A physiological mechanism
increases the speed at which electrical impulses made possible by the structural feature of
travel along the nerve cell a layer of fur; the muscles attached to hair
follicles contract, so that the hairs stand
Negative feedback When a change in a
variable (stimulus) occurs, it is a response that up, trapping a layer of air that can provide
counteracts the change and returns the variable insulation, reducing heat loss to a cooler
back to its normal (optimal) value external environment
Nervous system The network of nerve cells and Pilorelaxation A physiological mechanism
fibres that transmits nerve impulses to provide involving muscles attached to hair follicles
communication between parts of the body relaxing to flatten hairs and decrease the layer
of air acting as an insulator. This enables more
Nitrogenous waste The nitrogen-containing
heat loss and cools the body
metabolic waste products of the breakdown of
proteins and nucleic acids. Initially, ammonia Pituitary gland Coordinates the endocrine
(which is highly toxic) is formed. Many animals system activities; it is the master endocrine
convert ammonia into a less toxic form – either gland because it produces hormones that affect
urea or uric acid the production of other hormones
Optimal range The narrower range, within Plasmolysis The state of a plant cell in which
an organism’s tolerance range for a particular the cell membrane has pulled away from the
factor, at which the organism functions best cell wall due to water moving out of the cell
Osmotic pressure The force of pressure that Positive feedback When a change in a variable
results when there is a difference in solute (stimulus) occurs, it is a response that amplifies
concentration across a membrane (further increases) the change
Pain receptor A sensory cell or organ that Radiation The transfer of heat from a hot object
detects pain signals by infrared waves
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Receptor A cell or tissue that detects a Sweating A process in which sweat glands
stimulus (change in the environment); the open to release water and salt onto the skin; the
receptor may be internal or external sweat then evaporates and cools the skin
Response The action of the effector that Temperature gradient Produced when two
counteracts or amplifies the stimulus; the objects in close proximity have different
change made by the effector temperatures due to different amounts of heat
energy; this causes heat to travel from the hotter
Sensory neuron A nerve that transmits nerve
object to the colder object
impulses from a receptor towards the central
nervous system Thermoreceptor A sensory cell or organ that
detects heat or cold
Set point The optimal value for an internal
variable such as temperature or Ca 2+ Tolerance range The range of a factor within
concentration which an organism can function and reproduce;
if factors go outside of this range, it may be fatal
Shivering A reflex action activated in many for the organism
mammals during extreme cold conditions,
Torpor A physiological state of decreased
in which a high rate of contraction and
metabolic rate and physical activity
relaxation of muscles generates heat that
can be used to regulate the internal body Urea A nitrogenous waste formed from the
temperature breakdown of proteins and nucleic acids
(nitrogen-containing compounds); it is a less
Solvent A substance in which another
toxic form than ammonia, but the conversion
substance (known as a solute) dissolves
from ammonia to urea requires energy; it is
Stimulus (plural stimuli) A change in one of moderately soluble in water
the internal or external environmental factors;
Uric acid A nitrogenous waste formed from
it can be detected by a receptor and involves a the breakdown of proteins and nucleic acids
deviation from the normal or optimal value (nitrogen-containing compounds); it is the least
Stimulus–response model The two stages of toxic form, but the conversion from ammonia
homeostatic regulation. The stimulus (stage one) to uric acid requires a large amount of energy;
is the detection of a change from the stable state; it is in the form of a semi-solid paste and is
stage two is the response to the stimulus, which insoluble in water
can be described as counteracting the change Vasoconstriction A physiological mechanism
(negative feedback) or amplifying the change in which blood vessels contract to reduce blood
(positive feedback). A stimulus–response model flow and therefore heat loss from the surface of
can be used for homeostasis the body
Structural features Physical features that Vasodilation Dilation (widening) of blood
usually have a function; they include cellular vessels, particularly arterioles
structure and the size and shape of an organism
Zone of intolerance The zone that is outside the
Substrate A substance on which an organism tolerance range for survival
acts Zone of physiological stress The zone that
Surface-area-to-volume ratio The ratio of the is outside the optimal range, but inside the
surface area of a structure or organism to its tolerance range; it is not optimal, but within it
internal volume survival is possible
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Understanding
3 Explain why some ectotherms bask in the sun.
4 When a cold reptile lies on a warm rock, it spreads its whole body out. Explain the purpose of
this behaviour.
5 Draw a table to summarise examples of the structural, physiological and behavioural
adaptations a mammal can use to regulate temperature.
6 Referring to Figure 10.29 (page 359), account for the differences shown in the size and shape of
the ears of different species of fox.
7 Kangaroos do not sweat when they rest. Instead, they breathe at a higher rate. Explain how
breathing may assist in lowering a kangaroo’s body temperature.
Applying
8 Homeostasis maintains the constant internal environment necessary for survival. One factor it
regulates is blood calcium concentration. Name another salt that is under homeostatic control
and explain why it must be regulated.
9 What strategies do animals employ if they are unable to meet their energy needs?
10 Name an animal that lives in conditions of either extreme cold or extreme heat. Draw a concept
map to summarise the structural, physiological and behavioural
adaptations it has available to regulate its temperature. Artery Vein
11 Explain the significance of receptors failing.
30°C 29°C
Analysing
12 Figure 10.35 shows a mechanism known as countercurrent heat 25°C 24°C
exchange. Copy and annotate the diagram to show the principles
of countercurrent heat exchange. 20°C 19°C
13 Figure 10.36 shows the relationship between the environmental
temperature and the metabolic rate of various animals. The basal 15°C 14°C
metabolic rate for each animal is given a value of 100%. Any
increase in metabolic rate is in relation to this value. 10°C 9°C
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Arctic Tropical
400
M
m iN
ar
m
na thg
Lem
om aR
uH
ye noo tolS
Pola min W ea Co os
kn cc
Gro ati Juet
r be und g sel
h
300 ar p squ ng
up
etar cilobateM
)desidradnats(
irre le
l ra
t
200 Eskim
o dog
pup
White fo
x
Basal 100
metabolic
rate Observed Extrapolated
0
–60 –50 –40 –30 –20 –10 0 10 20 30 40
FIGURE 10.36 The relationship between environmental temperature and metabolic rate
Evaluating
14 The removal of waste products from the interstitial fluid is essential in maintaining optimal
metabolic function. Explain this statement.
Creating
15 Design a new species of ectotherm suited to living in a hot environment. Describe its structural
and behavioural adaptations for thermoregulation.
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6 A lizard lying on a rock that is warmer than 9 Rabbits have the ability to control the
the body of the lizard will: amount of blood flow to their ears. Explain
A lose heat to the rock by convection how this can help them to thermoregulate.
B lose heat to the rock by conduction (4 marks)
C gain heat from the rock by convection [Q35d 2017 SCSA]
D gain heat from the rock by conduction.
10 Compare the methods that endotherms and
[Q20 2018 SCSA]
ectotherms use to regulate their internal
7 a Outline the role of the effector in body temperature and discuss the costs
homeostasis. (2 marks) and benefits of endothermy to individuals.
b Outline the role of the receptor in (10 marks)
homeostasis. (2 marks) [Q38 2019 SCSA]
c State the defining feature of a negative 11 The Arctic fox (Figure 10.29a, page 359)
feedback loop. (1 mark) lives in the Arctic tundra, which is one of
[Q33a 2019 SCSA] the coldest environments on Earth. Discuss
8 A stimulus–response model consists of one structural feature and one physiological
several parts, which are represented by process that enables mammals living in
the boxes in the diagram below. The part cold environments to maintain a constant
represented by box (v) has been labelled. core body temperature. Identify clearly in
Complete the diagram by placing the correct your answer which is the structural feature
labels for the different parts of the model in and which is the physiological process. (10
boxes (i) to (iv). (4 marks) marks)
[Q31a 2018 SCSA]. [Q38a 2018 SCSA]
(i)
12 Describe in general terms how an organism
maintains its internal environment within
its tolerance limits. (10 marks)
[Q38 2017 SCSA]
(ii)
(iii)
(iv)
(v)
Response
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11
REGULATION OF CHAPTER 11 CONTENT
By the end of this chapter, you will have covered the
WATER, SALTS following material.
SCIENCE UNDERSTANDING
» the type of nitrogenous waste produced by different
vertebrate groups can be related to the availability of water in
the environment
» animals have a variety of behavioural, physiological and
structural adaptations to maintain water and salt balance in
terrestrial and aquatic environments
» to maintain water balance and allow for gas exchange,
xerophytes and halophytes have a variety of structural and
physiological adaptations
ATAR Biology Syllabus, Government of Western Australia,
School Curriculum and Standards Authority
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CHAPTER 11 | Regulation of water, salts and gases 373
Key concept
Osmoregulation refers to the gain and loss of water and the concentration of solutes. Osmosis is the
passive movement of water across a membrane. Solutions can be isotonic (of equal concentration,
water movement is equal or net zero), hypertonic (more concentrated outside the membrane, water
moves out) or hypotonic (less concentrated outside the membrane, water moves in).
The kidneys
Kidneys are essential organs involved in maintaining a constant internal environment. They play an
important role in osmoregulation. Their osmoregulatory function includes:
1 removal of nitrogenous wastes
Formation of urine
This website contains an 2 regulation of water concentration in the blood
animated tutorial and 3 maintaining ion levels in the blood.
quiz summarising the
structures and function The cortex and medulla make up two of the main layers in a kidney and are composed of
of the kidney. individual filtering units known as nephrons, which filter the blood in order to regulate chemical
concentrations and produce urine. At one end of each nephron, in the cortex (outer layer) of the
kidney, are cup-shaped structures called Bowman’s capsules. Each one surrounds a group of
capillaries called a glomerulus. Blood travels from the renal arteries into the glomerulus of each
nephron. At the glomerulus, plasma is forced out through the walls of the glomerulus, then in
through the outer layers of the Bowman’s capsule to its interior, being filtered in the process. After
entering the capsule, the filtered fluid (filtrate) flows along the proximal convoluted tubule to the
loop of Henle, and then to the distal convoluted tubule and the collecting ducts, finally flowing into
the ureter. Each of the various components of the nephrons are selectively permeable to different
molecules, and enable the complex regulation of water and ion concentrations in the body. Renal
arteries carry blood to the kidney and renal veins carry blood away from the kidney. The glomerulus
is the site in the nephron where fluid and solutes are filtered out of the blood to form a glomerular
filtrate. The process is called filtration. The proximal and distal tubules, the loop of Henle, and
the collecting ducts are sites for the reabsorption of water and ions. Reabsorption is the process
of water, ions and other substances in the filtrate being absorbed back into the blood. Together,
filtration and reabsorption in the mammalian nephron regulate body fluid concentrations.
Proximal Distal
tubule tubule
Glomerulus
Renal
Renal
artery
pelvis
Collecting duct
Renal
vein Renal Bowman’s
artery capsule
Ureter
Renal
medulla Renal
Renal vein
cortex
Loop of Henle
To ureter
FIGURE 11.1 Structures of the human kidney and nephron substances that are reabsorbed (blue represents
water; grey represents salts and other substances)
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—NH2
Amino groups
Most aquatic animals, Mammals, most adult amphibians, Birds, insects, many
including many fishes and sharks, some bony fish; reptiles, land snails;
juvenile amphibians; need to conserve water need to conserve water
can afford to lose water
O
H
NH2 C
N
HN C
O C C O
NH2 C C
N
NH3 C N
H
H
Ammonia Urea Uric acid
(most toxic) (less toxic) (least toxic)
FIGURE 11.2 Three types of nitrogenous wastes and where they occur, which relates to water availability in the
organism’s environment
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Freshwater fish produce abundant amounts of dilute urine containing ammonia. It is excreted
quickly and continuously. On the other hand, marine fish and terrestrial (land) mammals must quickly
convert the ammonia to a less toxic substance, urea. It is then released as concentrated urine,
reducing water loss from the body. Other organisms, such as reptiles and birds, produce uric acid,
which is the least toxic form of nitrogenous waste and contains very little water.
Natural selection has resulted in organisms that excrete the type and amount of nitrogenous
waste that works best for the availability of water in the environment in which they evolved. Evidence
of this is seen in turtles. Terrestrial turtles excrete mainly uric acid, in contrast to aquatic turtles, which
excrete both urea and ammonia. In many frog species, the tadpoles excrete nitrogenous waste as
ammonia, whereas the adult frogs excrete urea. This is because tadpoles live in water and are able to
dilute the highly toxic ammonia. A high volume of water output is essential in order to prevent death
from ammonia toxicity in the tadpoles. Adult frogs live on land and are usually able to access smaller
amounts of water than tadpoles. With less available water, adult frogs excrete urea. This has the added
benefit of saving the frog water, but it takes energy to convert ammonia to urea.
This is not observed in aquatic mammals. Even though whales and dolphins live in an
environment with copious amounts of water for diluting ammonia, they evolved from terrestrial
mammals, and features such as urinary systems were inherited from their ancestors. Consequently,
whales and dolphins excrete urea in their urine.
Ammonia Fish Ammonia is highly soluble. In some Very high None to low
Juvenile amphibians invertebrates it can dissolve in water and Requires dilution with (breakdown of proteins
pass directly through body surfaces. water and nucleic acids
Aquatic reptiles
An environment high in water directly produces
Highly soluble
is required, such as in aquatic ammonia)
environments, to dilute the ammonia.
Urea Mammals Moderate water solubility Very low (100 000 times High (ammonia is
Most adult Terrestrial environments with a low less toxic than ammonia) converted to urea in the
amphibians water content and marine environments Can be stored in high liver)
Key concept
Excretion removes nitrogenous waste products from animals in different concentrations,
depending on where the animals live. Aquatic animals continuously excrete dilute urine
containing ammonia. In animals that need to conserve water, ammonia is converted to a less
toxic form (urea or uric acid) for storage, and the nitrogenous waste is more concentrated to
reduce water loss.
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FIGURE 11.3 Urine concentration varies between animals, depending on their environment.
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Cortex
Thick segment
Descending
of ascending
limb of loop
limb
of Henle
Filtrate NaCl
H2O (water) Outer H2O NaCl
Salts (NaCl etc.) medulla
Urea
Thin Collecting
Glucose
segment of duct
Amino acids
ascending
Some drugs
limb Urea
NaCl H2O
Active transport
Passive transport Inner
medulla
FIGURE 11.4 Water is conserved in the mammalian kidney by reabsorption in the descending portion of the
loop of Henle. The longer the loop of Henle, the more water is reabsorbed and the more concentrated
the urine.
Key concept
The hypothalamus detects low water content in the blood and signals the pituitary gland to
release ADH. Increased ADH increases water reabsorption by the kidneys, which decreases
water loss by urination.
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STIMULUS
Decrease in the blood water
content below optimal range
NEGATIVE RECEPTOR
FEEDBACK Osmoreceptor cells in the
The blood water content hypothalamus detect the
returns to the normal or change in the blood water
optimal value. The response content and send a message
counteracts the stimulus. to the coordinating centre.
COORDINATING CENTRE
RESPONSE (MODULATOR)
An increase in the blood The hypothalamus receives a
water content, a lower volume message from the receptor,
of urine and a higher urine coordinates a response and
concentration sends a message to the
effector. (The thirst centre is
also activated.)
EFFECTOR
The pituitary gland releases
ADH, which travels through
the blood to the kidney
nephrons, increasing the Negative feedback for
permeability of the collecting water content
duct wall, which increases
water reabsorption.
Read and use the
interactive tool to learn
about ADH and control
FIGURE 11.5 Negative feedback loop for low water volume (low hydration) of water balance.
Osmoregulators
Structural features, as well as behavioural and physiological responses, aid in thermoregulation. In
hot environments, dingoes pant, losing water vapour from the tongue, the air passages and the lining
of the mouth. Other animals have high densities of sweat pores in certain areas, which are exposed
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as the body temperature rises. These are effective cooling adaptations, but also involve water loss by
evaporation. Fortunately, a physiological thirst response is experienced as the concentration of blood
solutes increases, and animals respond by drinking water. Thermoregulation and osmoregulation
are intricately bound to each other, and for many terrestrial organisms, a water supply is not always
available. Animals living in dry areas have a range of structural, physiological and behavioural
adaptations for maintaining their water balance.
a b
refieK yhtaC/kcotsknihT
neeuqcmsj/kcotsknihT
FIGURE 11.6 The scales of reptiles and feathers of birds contain keratin, and this reduces water loss.
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a b
Gain of water Excretion Osmotic water Uptake of Uptake of salt Osmotic water
and salt ions of salt ions loss through gills water and some ions by gills gain through
from food from gills and other parts of ions in food gills and other
body surface parts of body
surface
FIGURE 11.8 Solving the problem of water balance in a marine bony fish and b freshwater bony fish
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TABLE 11.2 Problems and adaptations of freshwater and marine bony fish
Osmoconformers
eloC nodnarB/yrarbiL erutciP erutaN
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such as sharks and rays are also osmoconformers. They are able to concentrate urea in their bodies
to maintain a high solute concentration, thus matching the ocean’s high concentration of solutes.
Some fish, such as sturgeon, have the capacity to conform to salt water and fresh water and can live
in water with variable salinity, such as in estuaries.
Key concept
Animals can be described as osmoregulators or osmoconformers. Osmoregulators regulate their
internal osmotic concentration to be less than or higher than their environment. Osmoconformers
conform to the osmotic concentration of their environment; that is, their internal osmotic
concentration matches that of their environment. Osmoconformers are isotonic.
Salt balance
Salts are needed for the proper functioning of muscles, nerves and bones. The salts are usually
dissolved in water. Animals need to regulate the salt lost in sweating, which is an essential process
for cooling the body. Salts can be replaced through the diet, and they can also be reabsorbed via the
nephrons. Excess salts need to be excreted via the excretory system. Animals such as the albatross have
evolved a way to drink seawater, which is too salty for most birds and land animals. To get rid of excess
salt from the water and food they ingest, albatrosses have salt glands just behind their eye sockets. The
glands excrete a highly concentrated salt solution that drains out through the tip of the beak.
Salt pumps
adjust solutes.
Plasma membrane has
solute pumps
Salt and adjusts sugars and
Water and solutes
water proteins in cell to control
are obtained in food.
water movement.
Water diffuses Water and
in and out solutes are lost
across gills. in urine
Land
Key
Water Water
Solutes Solutes
Relatively large Relatively small
movement movement
FIGURE 11.11 Water is gained and lost differently by organisms in water and on land.
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FIGURE 11.12 Negative feedback loops for high and low water content in blood
Plants have very specialised mechanisms for water and salt regulation. For example, they
use stomata (singular stoma) and their accompanying guard cells (on the lower side of their
leaves) to regulate water loss. The stomata can open and close in response to the concentration
of the solutes in their guard cells.
Most mammals have a highly developed excretory system to help regulate water and salts.
They use their nervous and hormonal communication systems to regulate urine output volume
and concentration. Some mammals, like koalas, rarely drink water. Instead they can extract
water from the food they eat (eucalyptus leaves). During very dry times, droughts and bushfires,
they will be seen drinking water.
Questions
1 List the types of animals that need to conserve water.
2 List the types of animals that need to dispose of water.
3 Compare the mechanisms for water and salt regulation of a fish with those of a human.
4 Write a sequential summary of the negative feedback loops that operate when a human’s
water content is too high or too low.
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stem of a vascular plant are the transport tissues, xylem and phloem. The xylem carries water and the
phloem carries the products of photosynthesis, such as glucose. The stem is attached to leaves. The
leaves consist of layers of specialised tissue and are the site where the majority of water loss occurs in
a plant (through transpiration).
Water transport and water loss happen simultaneously in vascular plants. Water is pulled from
the roots through the xylem to the leaves due to the set of forces known as the transpiration
pull. These forces include the forces of cohesion and adhesion. Cohesion is the attractive force
that occurs between water molecules. As water evaporates from the leaves, columns of water are
drawn up through the xylem vessels. Adhesion is the attractive force operating between water
molecules and the inner walls of the xylem vessels.
The combined forces of cohesion and adhesion create capillary action. Capillary action is
defined as the movement of water within the spaces of a porous material due to the forces of
adhesion and cohesion. As water continues to move up the column and is drawn from the root
hairs (by the xylem and the water molecules it contains), this sets up a concentration gradient
between the inside and outside of the root hairs, enabling water to move in by osmosis. In
addition, active transport of salt ions into the roots can cause osmotic water movement into the
root hairs, balancing the salt concentration inside and outside the root hairs. This movement of
water into the root hairs causes root pressure, a force that pushes the water upwards.
Together, the forces of cohesion, adhesion and root pressure produce a continuous flow of
water from the roots to the leaves via the xylem. This continuous flow of water is known as the
transpiration stream.
The strongest force, the cohesive force, causes a pull force in the xylem, because water at the top
of the column, at the leaf, evaporates due to a process called transpiration (Figure 11.13). Transpiration
is the evaporative loss of water (in the form of water vapour) from plants, usually through small pores
called stomata found on the surface of a plant, mostly on the underside of leaves. The evaporation
and diffusion out of the stomata occurs because of the concentration gradient of water vapour
between the inside and outside of the leaf. Water vapour moves down the concentration gradient,
from an area of high water content to an area of relatively low water content. The transport of water
through the plant results in water loss.
FIGURE 11.13 Evidence of transpiration is shown in the results of this experiment. A plastic bag was wrapped
around some leaves on a plant. Water vapour from transpiring leaves can be seen on the plastic bag.
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CHAPTER 11 | Regulation of water, salts and gases 387
Cuticle
Upper
epidermis
Palisade
mesophyll
Xylem
Vascular
bundle
Phloem
Spongy
mesophyll
CO2 O2 Transpiration quiz
Try this transpiration
Lower quiz to find out whether
epidermis you have learned
enough facts.
Stoma Guard cells
FIGURE 11.14 Leaf cross-section. The stomata release oxygen and take up carbon dioxide but also lose water.
A stoma opens when the guard cells are turgid A stoma closes when the guard cells are
due to absorbing water via osmosis flaccid due to losing water via osmosis
(usually during the day). (usually during the night).
Nucleus Nucleus
Chloroplast Chloroplast
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TABLE 11.3 Factors that can increase the rate of transpiration in plants
Light An increase in sunlight leads to an increase in transpiration due to warming the leaf and
stimulating the opening of the stomata (active transport of ions into the guard cells can
cause water to be absorbed via osmosis because of a concentration gradient in the ions
in solution); once the stomata are open, transpiration can start.
Humidity A decrease in humidity leads to a higher water vapour concentration gradient between
the air at the surface of the leaf and the air outside the leaf. This increases diffusion of
water vapour out of the leaf and evaporation from the leaf surface, which leads to an
increase in water loss from the plant (transpiration).
Wind An increase in wind leads to an increase in the rate of evaporation, which leads to an
increase in the rate of transpiration, because humid air near the stomata is being carried
away, increasing the water vapour concentration gradient between the air at the surface
of the leaf and the air outside the leaf.
Temperature An increase in temperature (due to heat energy being received from the sun) increases
the evaporation rate from the surface of the leaf, because of an increase in the
water vapour concentration gradient between the air at the surface of the leaf and
the air outside the leaf. This leads to an increased rate of water loss from the plant
(transpiration rate).
Key concept
The mechanisms of osmoregulation in plants are transport and transpiration. Transport
describes the movement of water and minerals in the xylem up the stem to the leaves, and
solutes in the phloem. Transpiration stream describes the pull of water from the roots to the
leaves due to cohesion, adhesion and root pressure. Transpiration is the loss of water from the
leaves.
CASE While a PhD research student at the surviving in the salt lakes of inland Australia.
STUDY University of Western Australia in 2016, The environment is described as highly
Louis Moir-Barnetson conducted a study on stressful due to the high salinity, extremely
different halophyte (salt-tolerant) species arid conditions and flash floods. The study
was conducted because little is known about
the ecology and physiology of the salt lake
plants. Their adaptations are key to their
survival in this extreme environment, and
their survival is vital for the ecology of the
salt lake. Halophytes seem to have abilities
ailartsuA nretseW fo ytisrevinU eleihT .R.K
FIGURE 11.16 Highly specialised plants can survive in extreme conditions; for example, the halophyte
Tecticornia medusa (samphire) is able to tolerate the highly saline, extremely arid conditions of inland salt
lakes.
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that other plants (and animals) do not. The succulent tissues. When salt is moved into a
ability to filter salt from salt water is of vacuole, its toxic effects are removed from
particular interest to scientists, because it is the rest of the cytoplasm. Importantly, the
predicted that fresh water will become less limiting effects of salt in the cytoplasm
common in the future. disappear and nutrient uptake increases.
Louis also conducted a comparison Samphires accumulate salt in the older parts
study of three different halophytes and of the stem, which then fall off, removing the
found that in altered, increasingly saline salt from the plant.
conditions, shoot and root growth remained
the same, but that when subjected to low Questions
saline conditions, one suffered more stress 1 Explain why studies of halophytes may
than the other two. Samphire was one of benefit humans in the future.
two species that he described as superior 2 Predict some of the impacts that
competitors. removing halophytes from the salt lakes
Common mechanisms of halophytes for of inland Australia would have on the
surviving in environments where there are ecology there.
high concentrations of salt are accumulation 3 Describe the halophyte samphire and
and storage of salt in either vacuoles or state some of its unique adaptations.
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the guard cells by osmosis, their turgor increases and they expand. Due to the relatively inelastic
inner walls of guard cells, they bend and draw away from each other, so the pore opens. If the
guard cells lose water, the opposite happens and the pore closes. The guard cells lower their
water potential to draw in water from the surrounding epidermal cells by actively accumulating
potassium (K+) ions. This requires energy in the form of ATP, which is supplied by the chloroplasts
in the guard cells.
Plants require oxygen for respiration and carbon dioxide for photosynthesis. Respiration
occurs throughout the day and night, providing the plant with a supply of energy. Photosynthesis
can only occur during sunlight hours, so it stops at night. During the day, photosynthesis can
occur 10 or even 20 times faster than respiration (depending on the light intensity), and the
stomata must stay open so that the plant has enough carbon dioxide, most of which diffuses in
from the atmosphere. Simultaneously, oxygen, a product of photosynthesis, diffuses out through
the stomata. The rate at which oxygen is produced in photosynthesis is much higher than the
rate it is needed in respiration. This explains why oxygen is released, even though oxygen is
needed for respiration. How can plants that live in dry environments regulate water balance when
they need to open their stomata for gas exchange (which also allows evaporative loss of water
via transpiration)? Xerophytes have developed specialised features to solve this dilemma.
Upper
epidermis
Palisade
mesophyll
Spongy
mesophyll
Lower
epidermis CO2 enters
Guard cell
O2 exits
Stoma
Xerophytes
Xerophytes live at the dry extreme of the moisture continuum. Deserts, but also aerial rainforest
niches and frozen arctic tundra, experience conditions in which evaporation exceeds precipitation for
all or part of the growing season. Xerophytes specialise in water conservation, allowing them to thrive
in these conditions. Xerophytes are plants adapted to live in arid environments. They have developed
specialised features that minimise water loss, while allowing for gas exchange. An environment is
classified as arid if it has a severe lack of available water that hinders the growth of most plant and
animal life. ‘Xero’ is the Greek word for dry; hence the term xerophyte. Xerophytes may live in very hot
places, such as the desert, where water is limited, or in areas of frozen land with no flowing water.
The problem with living in an arid environment is that water moves passively along a
concentration gradient out of the plant and into the dry environment. The rate of water loss by
evaporation due to transpiration is very high. It is high because there is a relatively high concentration
gradient between the inside and outside of the leaf. Water vapour evaporates and diffuses more
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quickly in an arid environment compared with in a non-arid environment. Plant cells can become
flaccid, and plants can wilt, dry out and die when their water content falls below the plant’s tolerance
range. Water is a requirement for photosynthesis, it is a medium for metabolic processes (chemical
reactions), it is required for evaporative cooling, and it is needed for soil nutrients to dissolve into and
be absorbed by a plant.
Xerophytes have a range of structural and physiological adaptations that enable them to survive in
an arid environment:
• Reduction in leaf surface area. Leaves may be reduced to spines, or be long and narrow, reducing
the area for transpiration, and there may be a reduced number of stomata. In addition, the smaller
leaf surface area means less exposure to the drying effects of the wind, reducing evaporation and
reducing water loss. For example, some cacti have developed their leaves into thin spines without
stomata to inhibit water loss, while the porcupine (spinifex) grass has rolled leaves that create
pockets of very humid air
• Sunken stomata, which prevent water loss by increasing the relative humidity near each stoma,
decreasing the concentration gradient and reducing evaporation and diffusion. This creates a
micro-climate
• Deep roots to reach water sources underground, such as the water table, which increase water
uptake, preventing dehydration of the plant
• Rolled leaves, with the stomata inside and the inner surface covered in hairs. The rolled leaf and
hairs both serve to trap moist air, thus reducing the concentration gradient of the water vapour,
the diffusion rate of water vapour out of the leaf, the evaporation rate and the transpiration rate,
creating a humid micro-climate and reducing water loss
• Thick, waxy leaf cuticle that is impermeable to water, preventing evaporation and water loss.
The cuticle is also shiny and can reflect light, reducing the amount of light absorbed that could
transform into heat and increase the transpiration rate. The reduction in light absorption leads to
a reduction in the stimuli that open the stomata, further reducing water loss
• Stomata opening at night (reverse stomatal rhythm). This assists in reducing water loss,
because the stomata are closed during the hottest part of the day, reducing transpiration
and evaporation. Carbon dioxide uptake is then at night, and it is stored for use in
photosynthesis, which occurs in the daytime
• Shallow, spreading roots to collect the occasional rainfall, and to increase water uptake and
reduce the risk of dehydration of the plant.
• Storage of water in succulent tissues. Plants store water in fleshy stems or leaves (instead of it
being transpired out of the plant) for use during dry periods. This reduces water loss during hot,
dry periods.
These structural and physiological adaptations can be further classified into the following
categories: adaptations to increase water gain (spreading shallow roots or long tap-roots that
reach the water table), adaptations that limit water loss (leaf, stomatal, metabolic adaptation) and
adaptations for water storage.
Halophytes
Halophytes are plants that live in environments of high soil salinity, that is, soil with a high salt
concentration – places such as salt marshes and the mud flats of estuaries. The amount of salt-
affected land is increasing around Australia, and scientists study salt-tolerant plants to help in
agriculture, bioremediation and conservation.
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Water does not move into a plant if the plant’s solute concentration is lower than the
concentration outside. Water will move out of the plant, via osmosis, passively along a concentration
gradient. Halophytes lose water, because the high salt concentration in the surrounding soils will
draw water from plant tissue via osmosis. The effects of living in an environment with high salinity are
multilayered. Plant growth can be reduced, germination can be hindered, and plants can struggle with
a water deficit as water is drawn out of them, which slows the rate of photosynthesis and productivity;
high levels of salt ions can also lead to toxicity and cell death. Because the salt concentration in the
soil exceeds that in the root hairs, unless the plant is specially adapted the water moves from the root
hairs into the soil by osmosis until the two solutions
are isotonic. Plants can become dehydrated if they
do not possess suitable adaptations.
In order to combat the effects of osmosis and
reduce water loss, halophytes are salt accumulators
and/or salt excluders. Salt accumulators gather
and store excess salt in their salt glands or in their
central vacuoles. Salt excluders remove salt by
ultrafiltration through cell membranes and the
endodermis. These complex plants are able to
accumulate and compartmentalise ions, enabling
them to continue to accumulate essential nutrients
in the presence of high sodium concentrations, and
limiting the entry of salt ions into the transpiration
FIGURE 11.19 The desert holly saltbush accumulates salt in its leaves, which can be dropped in order for the
plant to survive.
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• Vacuoles in root cells store salt, which increases the salt concentration of the roots so it is greater
than that in the soil. This allows water movement into the roots. Storing salt in vacuoles, rather
than in the cytoplasm, stops it from interfering with cell functioning.
• Accumulation of salt in older leaves, salt bladders (modified epidermal hairs) or bark, which can
later be discarded. This reduces the amount of salt in the plant.
• Secretion of salt by special salt glands on leaves, stems and roots. This also reduces the amount
of salt in the plant.
• Succulence, the development of water storage structures in the leaves and other parts of the
plant, dilutes the salt content of the cells (as well as giving the plant a water source in drier
periods).
Examples of halophytes are mangrove grass and mangrove trees (Figure 11.20). Mangroves
are characterised by their aerial root systems, called pneumatophores, which aid in respiration.
The muddy, oxygen-poor soils that characterise mangrove areas do not hold enough oxygen for
these trees to effectively respire. Pneumatophores help the mangrove plant gain enough oxygen
for respiration. They are most common in the Kimberley and Pilbara regions, Exmouth, and Shark
Bay. There are also some small and isolated communities at the Abrolhos Islands in the state’s
mid-west and in the Leschenault Inlet, Bunbury, in the south-west. The diversity of mangroves
diminishes markedly from north to south, and only one species is found at Shark Bay and further
south.
Salt glands in the surface
layers of leaves secrete salt
(salt excretors).
FIGURE 11.20 Mangroves have evolved methods of dealing with concentrations of salt that would kill or inhibit the
growth of most other plants.
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XEROPHYTES
TYPE OF ADAPTATION HOW IT WORKS EXAMPLE
ADAPTATION
Structural Thick, waxy cuticle Impermeable to water, preventing
evaporation and water loss. Stops
)ne.deed/0.2/yb/sesnecil
FIGURE 11.21 The Australian succulent Gunniopsis
quadrifida (Sturts pigface)
Small leaf surface Fewer stomata, leading to reduced Conifer needles, cactus spines
area water loss. Less surface area for
evaporation. Smaller surface area of
leaf is exposed to the drying effects
of the wind, reducing evaporation
and reducing water loss.
Sunken stomata Stomata in sunken pits within
Rolled leaves with rolled leaves prevent water loss
stomata on the by increasing the relative humidity
inside in the vicinity of each stoma,
decreasing the concentration
gradient and reducing evaporation
and diffusion. Creates a micro-
climate. /gro.snommocevitaerc//:sptth( 0.2 YB CC eleihT niveK/aidemikiW
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HALOPHYTES
TYPE OF ADAPTATION HOW IT WORKS EXAMPLE
ADAPTATION
Structural Aerial root Aid in respiration. The muddy,
systems called oxygen-poor soils that characterise
pneumatophores these areas do not hold enough
oxygen for these trees to
effectively respire. Oxygen diffuses
into the spongy tissue of the
pneumatophores. They grow
otomisas/moc.kcotsrettuhS
upwards out of the water or mud to
reach the air.
Filtration structures Prevent salt from entering
in roots their roots. Mangroves have an
ultrafiltration system that can filter
approximately 90% of sodium ions FIGURE 11.23 Mangroves
from the surrounding salt water.
The three layers of the filtration
system surrounding the roots trap
sodium ions but allow water to
pass through as it is pulled into the
xylem.
Salt glands Salt is directed to plant surfaces,
where salt glands secrete salt to
reduce the salt content in the plant
Physiological Concentrates Stores salt in the vacuoles of the
and stores salts in fleshy stem segments or ‘beads’,
vacuoles which can have salt concentrations
of 30–45%. The salt in the beads
becomes highly concentrated, and
they shrivel, die then drop off. This
allows the rest of the plant to remain
healthy.w
otomisas/moc.kcotsrettuhS
Key concept
Plants have structural and physiological adaptations to help them survive in different
environments. Xerophytes are plants that can tolerate extremely dry environments.
Halophytes are plants that can tolerate high soil salinity.
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3
8
10
9
4
CO2 O2
6 7
UNDERSTANDING
4 Draw a table to summarise two structural adaptations of xerophytes for reducing water
loss and two structural features of halophytes for salt regulation.
CREATING
5 Draw a diagram of a mangrove tree and add notes explaining the various structural and
physiological features it has for water, salt, oxygen and carbon dioxide regulation.
accumulating the excess water in little bubbles in their cytoplasm. These contractile vacuoles
swell to bursting point, and the surplus water is expelled from the cell surface as the vesicular
membrane suddenly contracts.
can then be populated with stem cells under conditions mimicking those in the body. The end
result is a functioning bioengineered kidney that can be transplanted into the stem cell donor.
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CHAPTER 11 INVESTIGATION
How are animals adapted to withstand cold or heat? 11.1
NOITAGITSEVNI
Background
Mammalian body temperatures vary little. What are some of the adaptations that help mammals
maintain a fairly constant body temperature and keep warm in cold climates?
Aim
To model and investigate heat loss from an exposed surface
Materials
• 4 test tubes
• 4 thermometers
• 4 beakers
• Funnel
• Measuring cylinders
• Cotton wool (or some other insulating material)
• Cardboard cylinder (such as from a toilet roll)
• Timer
• Fan
• Spray bottle of warm water
Risks
WHAT ARE THE RISKS IN DOING THIS EXPERIMENT? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
Hot water can burn. Use a funnel and fill test tubes carefully.
A B C
FIGURE 11.26 Experimental set-up to investigate the effect of insulation on heat loss
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12 3 4
Results
Observations are to be recorded in tables and then graphed.
Analysis of results
1 Which test tube in Part A was the most effective at reducing heat loss? Suggest what makes this
set-up most effective at reducing heat loss.
2 Which test tube in Part B was the most effective at increasing heat loss?
Discussion
1 What structural feature of mammals is the cotton wool simulating?
2 How can an insulating layer of air be achieved in mammals?
3 How can the results from test tube B be used to explain the observation that a cat looks larger on
colder days?
4 Based on the results, suggest why an individual feels cooler on a hot windy day compared with on
a hot still day.
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5 Using the observations collected in this experiment, explain why panting in dogs is an effective
way of losing body heat.
6 Why are animals like frogs at greater risk of perishing on a hot windy day? Use the experimental
results to support your answer.
Taking it further
1 Which part of the experiment modelled the role of perspiration in maintaining body temperature?
2 Were any experimental controls used in Part A and Part B of this experiment? If so, explain what
these were and discuss their importance.
3 Draw a diagram of a negative feedback model, using the examples of thermoregulation
investigated in this experiment. Are all components of a feedback model completely demonstrated
in this experimental set-up? Explain your answer.
4 When the body temperature in mammals starts to drop, a number of things happen. Describe
some of these physiological and behavioural responses. Are any of these responses being modelled
in this experimental set-up? Explain.
5 When the body temperature in mammals starts to increase, different physiological and
behavioural responses occur. Describe these responses. Are any of these responses being
modelled in this experimental set-up? Explain.
Extension
1 Devise a procedure for testing the effects of shivering on heat regulation. Use a procedure similar
to the one in this experiment.
2 Explain why a person shivers during a fever, even though their body temperature is above 37°C.
3 Why would a small mammal shiver more than a large mammal on a cold day?
4 A small mammal was found to eat more than its body weight in food in a 24-hour period. A larger
mammal ate less than its body weight in food in the same time period. Explain why.
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CHAPTER 11 SUMMARY
Chapter 11 • Water is essential to life and is known as the • Kidneys play a major role in osmoregulation
Activity sheet
universal solvent. It plays a major role in the and in vertebrates have adaptations for the
dissociation (dissolving and separation) of removal of nitrogenous waste.
salts into their ions for metabolic activity. • Nephrons filter the blood by filtration
• When a solution outside a cell is compared and reabsorption. The Bowman’s capsule
with one inside, it can be isotonic (equal surrounds the glomerulus, which is
concentration, equal water movement), the site of filtration. The proximal and
hypertonic (more concentrated outside the distal tubules, the loop of Henle, and
membrane, water moves out) or hypotonic the collecting ducts are the sites of
(more concentrated inside the membrane, reabsorption.
water moves in).
• The hypothalamus and pituitary gland
• Organisms can have a number of structural regulate reabsorption by increasing
features or behavioural and physiological or decreasing the production of
responses that enable them to maintain ADH. Increased ADH increases water
water balance (osmoregulation). reabsorption, which decreases water loss
• There are three types of nitrogenous waste: through urination.
ammonia, urea and uric acid.
• Animals have a variety of behavioural,
• The type of nitrogenous waste produced by
physiological and structural adaptations for
animals is related to the amount of water in
osmoregulation or osmoconformation.
their environment. However, all mammals
excrete urea (even aquatic mammals such as • To maintain water balance and allow for
whales), due to shared evolutionary history. gas exchange, some plants have developed
specialised structural and physiological
• Ammonia is highly soluble in water and is
adaptations.
highly toxic.
• Urea is moderately soluble in water. It is • Xerophytes are plants that are adapted to
moderately toxic, but much less toxic than survive in arid environments.
ammonia. • Halophytes are plants that are adapted
• Uric acid is insoluble in water and almost to survive in environments with high
non-toxic. salinity.
CHAPTER 11 GLOSSARY
Adhesion The attractive force between water Bowman’s capsule A cup-shaped structure
molecules and the inner walls of a vessel found at one end of each nephron, in the cortex
(e.g. the xylem vessels) of the kidney; it surrounds a group of capillaries
Ammonia The direct product of the breakdown called a glomerulus
of protein or nucleic acids; it is extremely toxic Capillary action The movement of water within
and highly soluble in water the spaces of a porous material or a narrow tube
Antidiuretic hormone (ADH) A hormone that due to the forces of adhesion and cohesion
regulates the level of water reabsorption in the Cohesion The attractive force between water
collecting duct of a kidney’s nephron molecules
Arid Describes an environment characterised Coordinating centre (modulator) A tissue or
by a severe lack of available water that hinders organ that receives messages from receptors
the growth of most plant and animal life (via sensory neurons) and coordinates a
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response, then sends the information to an by a hypotonic solution, water moves into
effector via motor neurons; it is usually the the cell via osmosis to dilute the cell, so the
hypothalamus cell swells. (Animal cells, which have no cell
wall, sometimes burst.)
Estuary A transitional region in which fresh
water from a river meets salt water from the sea Isotonic At the same concentration as another
Excretion The removal of nitrogenous waste; solution. If a cell and its surrounding solution
in mammals, the nitrogenous waste urea is are isotonic, there is no net movement of water
removed in a mixture known as urine between them and the cell maintains a constant
volume
Filtrate The mixture that is filtered out of the
blood and enters the capsule; it flows along the Metabolism The sum of all the chemical
proximal tubule to the loop of Henle and then to reactions occurring within an organism to
the distal tubule and the collecting ducts, from maintain life; it includes reactions enabling
where it flows into the ureter an organism’s growth, homeostasis and
reproduction
Filtration A process that starts in the
glomerulus, where fluid and solutes are filtered Modulator (See coordinating centre)
out of the blood to form a glomerular filtrate Nephron The basic structural and functional
Glomerulus A group of capillaries surrounded unit of the kidney that filters the blood in order
by a Bowman’s capsule within a nephron; blood to regulate chemical concentrations, produce
is filtered from the glomerulus and through the urine and eliminate nitrogenous waste
surrounding Bowman’s capsule Nitrogenous waste The nitrogen-containing
Guard cells A pair of cells that surround a metabolic waste products of the breakdown of
stoma, which opens or closes depending on proteins and nucleic acids. Initially, ammonia
environmental conditions, giving the plant some (which is highly toxic) is formed. Many animals
control over water loss. When they are turgid convert ammonia into a less toxic form – either
the stomata open, and when they are flaccid the urea or uric acid
stomata close Osmoconformer An organism in which the
Halophyte A plant adapted to live in internal solute concentration changes with
environments with high soil salinity (i.e. a high the concentration of solutes in the external
salt concentration), such as salt marshes and the environment
mud flats of estuaries Osmoreceptor A receptor cell that detects
Hormone A chemical messenger secreted changes in blood water content (osmotic
directly into the bloodstream, other body fluids, pressure)
or adjacent tissues, where it moves to its target Osmoregulation The active regulation of an
cells organism’s water content; it maintains the
Hypertonic At a higher concentration than fluid balance (water gain and loss) and the
another solution. When a cell is surrounded by concentration of electrolytes (salts in solution)
a hypertonic solution, water moves out of the to keep internal fluids from becoming too
cell via osmosis to dilute the surroundings, so diluted or too concentrated
the cell shrinks Osmoregulator An organism that has
Hypothalamus A small region of the brain that specialised mechanisms for regulating
plays a major role in detecting and coordinating internal water and solute concentrations,
the response to a change in e.g. temperature or despite concentration changes in the external
water content in the blood environment
Hypotonic At a lower concentration than Osmosis The passive diffusion of water across
another solution. When a cell is surrounded a membrane in response to a concentration
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CHAPTER 11 | Regulation of water, salts and gases 403
5 State a mechanism that mammals use when responding to a decrease in the water content of
blood.
6 Draw and annotate a diagram to show the operation of a sunken stoma in a xerophyte plant.
Understanding
7 Explain what would happen to the water balance of a marine fish if it were placed in fresh
water.
8 Name an animal that lives in the Australian desert, and describe one physiological adaptation it
uses for water balance.
9 Figure 11.28 shows three different nephron structures, with varying loop of Henle length.
Justifying your choice, indicate which of these nephrons would be found in:
a a terrestrial mammal
b a freshwater fish
c a reptile.
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Applying
11 Define metabolic activity and discuss how the ability to slow metabolic rate can assist some
animals in maintaining water balance in an arid environment.
Analysing
12 Table 11.5 shows the filtrate volume in the various parts of a nephron.
If the measurement in the Bowman’s capsule was assumed to be 100% of the filtrate, calculate
the percentage of the filtrate that is retained as the final urine.
13 Outline the reason why the volume of filtrate becomes less as it flows through the nephron (see
Table 11.5).
Evaluating
14 Some scientists have shown an interest in incorporating halophyte adaptations in future crops.
Apply your knowledge of these adaptations to decide whether it is worth funding research into
this area.
Creating
15 Draw three diagrams showing the three types of solutions (hypertonic, hypotonic and isotonic)
surrounding red blood cells (animal cells). Show the direction of water movement for each cell.
Reflecting
16 Recall the different adaptations employed by plants and animals for water balance. Decide
whether plants or animals have a better set of adaptations and what the criteria would be
for your decision? Would you prefer to be a plant or an animal living in an arid or saline
environment? Explain your answer.
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D Desert mammals excrete uric acid 6 List four structures seen in the cross-section
and other mammals excrete urea. of a xerophyte’s leaf that would assist the
[Q9 2019 SCSA] plant to conserve water. (4 marks)
[Q33c 2019 SCSA]
3 Freshwater bony fish mainly:
A gain salts by active transport through 7 The root systems of xerophytes often
the skin include spreading roots just beneath the soil
B gain salts by active transport through surface. Outline two advantages of these
the gills surface roots for xerophytes. (4 marks)
C lose salts by osmosis through the skin [Q33d 2019 SCSA]
D lose salts by osmosis through the gills.
8 Vertebrates produce three main types of
[Q25 2019 SCSA]
nitrogenous waste.
4 A biologist conducted an experiment to test [Q31b, c, d, e 2018 SCSA]
the ability of four species of small mammal
a Copy and complete the table to indicate
to produce concentrated urine during
the type of nitrogenous waste excreted
periods of water shortage. The biologist
by each animal. (4 marks)
measured the concentration of salt in the
urine and blood in dehydrated individuals
ANIMAL TYPE OF NITROGENOUS WASTE
of each species. The results were expressed
Desert rat
as the ratio of the concentration of salt
Bony fish
in the urine to the concentration of salt
Insect-eating
in the blood (U:B ratio) and are given in
bird
Table 11.6.
River dolphin
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12
INFECTIOUS CHAPTER 12 CONTENT
By the end of this chapter, you will have covered the following
DISEASES material.
STARTER QUESTIONS
1 What is a pathogen? What effect do pathogens have on
organisms?
2 Are all pathogens the same?
3 What structural features of pathogens cause virulence?
SCIENCE UNDERSTANDING
» infectious disease differs from other disease in that it is
caused by invasion by a pathogen and can be transmitted
from one host to another
» zoonoses, such as influenza, can be transmitted between
vertebrate species
» the major groups of organisms that cause disease are
bacteria, fungi, protists and viruses; each group can be
distinguished by its structural characteristics
» diseases caused by these major pathogen groups include
– tuberculosis, tetanus, crown gall of plants
– chytridiomycosis (amphibian chytrid fungus disease)
– malaria, Phytophthora dieback (jarrah dieback)*
– influenza, Ross River virus, viral diseases of honeybees,
Australian bat lyssavirus
*The Phylum Oomycota containing Phytophthora dieback
has been removed from the Fungi Kingdom and placed in the
Protista Kingdom
ATAR Biology Syllabus, Government of Western Australia,
School Curriculum and Standards Authority
nehs xaM/segamI ytteG
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TABLE 12.1 Ten infectious diseases and the types of pathogens that cause them
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Transmission is the passing of an infectious disease from an infected host to another individual.
Pathogens have a variety of adaptations that enable transmission from host to host in a number of
ways. Infectious diseases, such as TB, are caused by an agent that can be passed from an infected
host to a susceptible (future) host. Diseases that are easily transmitted by close contact with an
infected organism or their secretions (body fluids) are called contagious. A disease can be infectious
but not contagious, as is tetanus.
Zoonotic diseases are infectious diseases that can be transmitted from one vertebrate group
to another. Humans, for example, can be infected with avian (bird) or swine (pig) influenza viruses.
Transmission is primarily through direct contact with infected animals. Direct contact with an infected
host’s saliva, mucus, faeces, blood or urine may happen when handling birds or by being bitten or
scratched. Transmission may also happen through close contact, such as being near an infected bird
when they shake their feathers. The virus may become airborne and be inhaled. Indirect contact may
occur when a susceptible host comes into contact with areas where infected animals live or roam,
where surfaces or objects have been contaminated. Examples of contaminated materials include
chicken coops, pet food dishes and soil.
Due to globalisation, outbreaks of diseases in Hong Kong in 1997 [avian influenza A(H5N1)
virus] and in China in 2003 [severe acute respiratory syndrome coronavirus (SARS-CoV-1)] resulted
in influenza viruses spreading from Asia to Europe and Africa. The COVID-19 pandemic was first
identified in China in 2019 and quickly spread around the world. The virus responsible, SARS-
CoV-2, is a new zoonotic RNA virus. The COVID-19 pandemic is discussed in more detail in
Chapter 14. Zoonotic influenza infection in humans may cause fever, cough or rapid progression
to severe pneumonia. Prevention of zoonotic diseases is recommended and can involve simple
physical strategies such as washing your hands with antimicrobial handwash to remove or kill the
pathogens. The dynamics of zoonotic disease transmission are deeply embedded in the ecology
and evolutionary biology of their hosts. A zoonosis comprises interaction between at least three
Australian bat
lyssavirus species: one pathogen and two host species (an animal species acting as the reservoir of the
Read how Australian infection, and humans).
bat lyssavrius can be Other zoonotic diseases explored in this course are the Australian bat lyssavirus and Ross River
transmitted by bites and
scratches from infected virus disease. Transmission of Ross River virus disease involves a vector (vectors are discussed in
bats. Chapter 11).
Key concept
Infectious diseases are caused by a pathogen and can be passed from one organism to another.
Infectious diseases can be caused by viruses, bacteria, fungi and protists.
There has been a rise in emerging infectious diseases, particularly zoonotic diseases such as
influenza. Factors that are affecting the spread of zoonotic diseases include changes in the
environment, habitat destruction and global movement. The World Health Organization (WHO)
predicted in 2019, prior to the emergence of COVID-19, that the next human pandemic was
likely to be zoonotic.
Questions
1 In what way can changes in the environment or climate affect the spread of infectious
disease?
2 In what way can habitat destruction affect the spread of infectious disease?
3 In what way can an increase in global movement of people and wildlife affect the spread of
infectious disease?
4 Construct an inference about why zoonotic diseases are emerging faster than they did in
previous decades.
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Infection
Incubation period Symptoms of disease Recovery
smotpmys fo ecnaraeppA
Time
FIGURE 12.2 The phases of an infection and appearance of symptoms over time
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Key concept
Transmission of infectious diseases depends on three factors: the infectious agent, the
susceptibility of the host and the mode of transmission.
Viruses
It is a common misconception that you can catch a cold if you go out on cold, wet days. The
common cold is caused by a virus, not by becoming cold. When a virus infects an organism, it
injects its nucleic acid into a host cell. Once inside, the viral nucleic acid takes over the host cell
and directs it to make multiple copies of the viral protein coat and nucleic acid. These are then
assembled into new viruses and are released when the host cell undergoes lysis, or splits open
(during the ‘lytic phase’). This releases many more viral particles, which can infect other cells within
the host. Exposure to cold and wet conditions might lower a person’s resistance to the virus, but it
is not the cause of the disease. All viruses cause some type of disease, because they rely totally on
host cells for their reproduction. A virus is often referred to as an obligate parasite because it cannot
function outside the host cell. This means that, unlike bacteria, viruses cannot be grown and studied
outside live cells. This trait poses limitations on viral research.
Virtually every type of organism on Earth is susceptible to viral infection. Viruses are significant
pathogens of many plants, sometimes resulting in the loss of crops such as potato and apples. Even
bacteria have their own group of viral pathogens, known as bacteriophages (such as in Figure 12.4,
page 411).
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Phospholipid
envelope
(derived from
host cell)
Viral proteins
embedded
in envelope
Core proteins
Nucleus
Influenza virus
Epithelial cell
Each virus is usually limited to infecting a specific host cell or organism. For example, an
adenovirus specifically infects epithelial cells in the upper respiratory tract, causing the common
cold. This is because the virus is able to recognise and bind to receptors that are expressed only
on respiratory tract epithelial cell surfaces. All viruses require host cells to replicate, and therefore
all viruses are pathogenic. The host will experience symptoms when a virus is replicating inside the
host’s cells.
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FIGURE 12.6 Viruses reproducing inside a bacterial (prokaryotic) cell. New viruses are produced within the infected bacterium.
lisarkaruy/moc.kcotsrettuhS
FIGURE 12.7 This person is suffering a rash and joint pain, symptoms of Ross River virus disease. The primary
replication of the virus occurs in skeletal muscle cells before the virus enters the blood. The virus also replicates
in the mosquito vector.
Key concept
The structural features of viruses include that they:
• are non-cellular, not living • reproduce using host cells
• have no membrane-bound organelles • have a protective protein coat called a capsid
• have nucleic acid (DNA or RNA) • are microscopic, 30–300 nanometres.
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Type A or B influenza virus Influenza The virus attacks the respiratory system. Average of 1–4 days
Sudden onset of high fever, cough,
muscle aches and pains, sore throat,
runny nose. These symptoms usually
last for up to 2 weeks.
Ross River virus Ross River virus disease Rash on limbs or trunk for 5–10 days; 1–3 weeks
painful and swollen joints, usually lasting
for months; fever and headache.
There are many different Viral diseases of honeybees CBPV: trembling wings and body, failure Varies
honeybee viruses (e.g. [e.g. chronic bee paralysis to fly, loss of hair
chronic bee paralysis virus virus (CBPV) and deformed DWV: wing deformity but can be
and deformed wing virus) wing virus (DWV)] asymptomatic
Australian bat lyssavirus Australian bat lyssavirus The virus attacks the nervous system: 20 days to 27 months. Only
(ABL) paralysis, delirium, convulsions/muscle three people in Australia have
spasms, death (if treatment is too late) been infected and confirmed to
have died from ABL.
Bacteria
Bacteria are prokaryotic. Bacteria are the most abundant and diverse group of organisms. Only a
relatively small number of bacteria cause disease. There are billions of bacteria living on our skin and
in our bodies that are not pathogenic and are often beneficial. Bacterium is the singular term for
bacteria.
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Plasma
Pilus Plasmid Cell wall Cytoplasm membrane Plasmid
Bacterial
flagellum
Some bacteria possess a flagellum, which helps them to move about. Another adaptation found
only in some species is a slimy bacterial capsule, which may be used to help the bacteria stick to
surfaces, such as teeth or mucous membranes. The capsule is a thick, well-organised layer sitting
outside the cell wall. It usually increases the virulence of a species, as it makes it harder for the body’s
immune system or antibiotics to attack the inner bacterium.
Many bacteria are capable of forming tough, dormant structures called endospores (or just
spores), which are resistant to extreme temperatures, chemicals and drying out. This adaptation helps
bacteria resist unfavourable
conditions and facilitates
dispersal to new hosts.
Some bacteria reproduce
by binary fission (Figure 12.9),
in which one cell splits into two
identical daughter cells. Binary
IRNC/yrarbiL otohP ecneicS
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Others reproduce by budding off spores. These asexual forms of reproduction allow bacteria to
reproduce very rapidly in favourable conditions. Some species can reproduce every 20 minutes. For
such a species, one bacterium could give rise to a colony of 4.7 × 1021 individuals in just 24 hours.
(That is 4 700 000 000 000 000 000 000 bacteria in a single colony!) Mycobacterium tuberculosis,
however, has a much slower reproductive rate, taking 12 hours to divide.
a b
It is difficult to distinguish between the different strains of each shape. A pathogenic bacillus may
look no different from a bacillus involved in cheese production. There is, however, one feature that
can be a useful tool for classifying them. Many strains of bacteria have differences in the structure and
composition of their cell walls, causing them to respond differently to stains and dyes, in particular,
the Gram stain (Figure 12.11, page 416).
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Key concept
The structural features of bacteria include that they:
• are unicellular, prokaryotes
• have no membrane-bound organelles
• have circular DNA and plasmids
• may have flagella for movement
• reproduce via binary fission or budding off spores (endospores)
• are microscopic, 1–10 micrometres in length
• can be spherical, rod-shaped, spiral or vibrio
• vary in their ability to be stained (e.g. Gram stain).
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Mycobacterium Tuberculosis A cough that persists, coughing up of 3–9 weeks from infection to development of a
tuberculosis (TB) sputum or blood, fever/night sweats, significant tuberculin. TB can stay dormant in the
steady loss of weight, fatigue. body for months or years. While TB is dormant, the
These symptoms are observed in sufferers host shows no symptoms. This is called ‘latent TB’.
of active TB disease. The host is not infectious while it is latent.
Agrobacterium Crown gall Galls form on stems, roots, trunks or 8 weeks until galls become visible
tumefaciens of plants branches, which can lead to stunted
growth and wilting (because the gall
formation interferes with water and food
transport).
Initially, galls form on the ‘crown’ of the
plant, which refers to where the main
roots join the stem, just above soil level.
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The disease TB is caused by the bacterium Mycobacterium tuberculosis. TB has affected the
human race for thousands of years and remains one of the leading causes of mortality throughout
the world. When a pathogen enters the respiratory system of a human host, macrophages in the
lung’s alveoli normally ingest and destroy the foreign microbes. Interestingly, some bacteria, such as
Mycobacterium tuberculosis, have acquired the ability to survive, replicate and evade macrophages.
The pathogen contains virulence factors that may increase the severity of the disease, especially if the
host is susceptible (such as someone with a weak immune system). Instead of destroying the bacteria,
the phagocyte provides a location where it can multiply through binary fission. While the bacteria is
multiplying, and destroying host cells, the disease is categorised as active and symptoms develop.
Like the tetanus pathogen, the bacterium Agrobacterium tumefaciens enters its host through
a wound. Unlike the tetanus pathogen, the host of Agrobacterium tumefaciens is a plant . This
bacterium causes crown gall, a disease that involves the induced growth of tumour-like galls around
the stem of plants. When the pathogen enters a wound, it inserts a gene from its plasmid into the
genome of the host cell, causing rapid cell growth and the formation of galls. The galls are malformed
Binary fission
Play the animation to growth that becomes a barrier in the infected host plant’s transport system for water and nutrients,
review binary fission. causing the plant to wilt and have stunted growth.
Fungi
The fungal world includes large organisms, such as mushrooms and toadstools, as well as minute
forms that were only revealed with the invention of the microscope. These microscopic fungi include
unicellular yeasts and moulds. They are plant-like organisms with cell walls, but their cell walls are not
made of cellulose and the cells do not contain chlorophyll.
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mass known as a mycelium. This makes up the body of the fungus. A mycelium can infiltrate the
tissues of the host on which it feeds. Most fungi produce spores, either through sexual or asexual
reproduction. The mature mycelium forms sporangia (singular sporangium), which release spores.
When the spores make contact with a new, moist food source, they may germinate to form a new
mycelium.
Glucans
Nucleus Chitin
10 µm
FIGURE 12.14 Basic structural features of fungi: a optical microscope image of a mycelium film showing a
branched network of microfilaments (hyphae); b schematic representation of a hypha composed of cells
separated by cross walls (septa), all enclosed within a cell wall; c schematic representation of the cell wall, a layer
of chitin that surrounds the cell membrane
Key concept
The structural features of fungi include that they:
• are eukaryotic cell structure with membrane-bound organelles/nucleus
• have a cell wall made of chitin
• are unicellular or multicellular
• can be microscopic or macroscopic
• can be made up of filaments (hyphae)
• can have a body consisting of a mass of hyphae, known as the mycelium.
Some fungi are pathogenic, causing disease in a wide range of organisms, including plants and
animals. As is the case with bacteria, not all fungi cause disease.
Most fungal diseases in animals are external, where they irritate and inflame the skin. A common
example in frogs is chytridiomycosis (amphibian chytrid fungus disease). As a fungus grow on the skin,
it produces spores. Spores are very long lived, an adaptation that improves transmission rates – they
can remain alive for years, germinating when conditions are suitable.
Chytridiomycosis Batrachochytrium Skin gets thickened and hardens. Respiration 2–10 weeks. Death
dendrobatidis becomes difficult because significant gas follows the onset
exchange usually occurs across moist skin of symptoms within
under normal conditions. The amphibian approximately 2–3
can become lethargic. Hind legs extend, and days.
the amphibian becomes sluggish and has no
appetite. These symptoms can lead to death.
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Flagella
Discharge
tube
Zoosporangia
Developing
c zoospores
Rhyzoids
FIGURE 12.15 a Micrograph of the fungus pathogen Batrachochytrium dendrobatidis zoospores (×1400). b Diagram of the pathogen in
its zoosporangia form with zoospores developing inside. c Amphibian displaying signs of chytridiomycosis (amphibian chytrid fungus
disease), the disease caused by the pathogen.
CASE
STUDY
History and ecology of chytridiomycosis
Batrachochytrium dendrobatidis live in water Susceptibility can vary. In some
or soil. They produce spores that are motile in populations, mortality is 100%. The Australian
water, which means they can swim through Government has funded an abatement
water. Individual amphibians contract the project, addressing the impacts of chytrid
disease when their skin comes into contact fungus. The two main goals are:
with water containing spores that have 1 to prevent the spread of the fungus into
travelled from infected amphibians. areas in Australia that are disease free
The chytrid fungus enters the surface 2 to decrease the impact of the pathogen on
layers of the frog’s skin, causing damage populations currently infected.
to the outer keratin layer. When frogs are Questions
disease free, the skin has many functions,
Chytridiomycosis including gas exchange and regulation 1 Explain how susceptibility and mortality
Explore of osmosis and salts. As the skin hardens rates are related.
chytriodiomycosis by
reading through this and thickens, these functions are hindered, 2 Explain why the rate of gas exchange
resource. along with homeostasis of water, salts and decreases as the disease worsens. Describe
gases. the effect on frog cellular respiration.
Protists
Protists are a diverse and mostly unicellular group of eukaryotic organisms. Of the 65 000 known
species of protists, less than 24 species cause diseases in humans, but these few infect hundreds of
millions of people each year. To date, we still do not have effective preventatives against many of
them, and the treatment drugs we have are limited in their effectiveness. Some protists resemble
animal cells, some resemble plant cells, and some resemble fungal cells. A variety of specific, unique
features set them apart.
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Malaria Plasmodium Fever, headache, chills (shaking), sweating and 10–15 days
falciparum is the vomiting.
most deadly. If left untreated and a host is susceptible,
Five species of complications can develop, such as anaemia
Plasmodium (because red blood cells burst) and liver failure. The
cause malaria. complications can cause death.
Phytophthora Phytophthora Areas of the plant appear rotten and may have lesions Depends on susceptibility of plant
dieback cinnamomi (where the pathogen has consumed the cell’s sugars). (affected by age and species). Incubation
(jarrah Wilting occurs, root systems die (dieback), and plant can range from weeks to months. Once
dieback) death follows (usually quickly and completely, not one wilting starts, death follows quickly.
branch at a time).
More than one million Australians visit Bali every year. A protist of interest, Giardia lamblia
(Figure 12.16, page 422), is a relatively common parasite that infects travellers to Bali. This flagellated
protist can cause mild intestinal upsets, such as diarrhoea, but may also have more severe effects in
the young or the elderly. It is often found in the bodies of cattle or wild animals and usually leaves Protists and fungi
their bodies (in the form of a cyst) through the faeces. People become infected if they drink water that View this video on
contains these cysts. In Australia, this has not usually been a problem, because our sewage system is protists and fungi
to reinforce your
well isolated from our drinking water. However, it is a major problem in many developing countries, knowledge of their
where travellers are advised never to drink water that is not bottled or boiled. structures.
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0.4 YB-CC .dtL erutaN regnirpS ,stropeR cfiitneicS
FIGURE 12.16 Scanning electron micrograph of Giardia lamblia (yellow) in the human small intestine. This
flagellated protist contaminates drinking water, causing intestinal upsets.
Key concept
The structural features of protists include that they:
• are relatively small 2–1000 μm
• are eukaryotes, with a membrane-bound nucleus
• are mostly unicellular
• can reproduce sexually and/or asexually
• can exist in different forms during their life cycle, depending on their classification (for
example, spores or zoospores, filaments, hyphae and mycelia)
• can be plant-like, animal-like or fungi-like in their structural or reproductive features.
12.1 Fungi have cell walls. Phytophthora cinnamomi was originally classified as a fungus. It has a cell
wall. It has a life cycle and reproduces in a similar way to a fungus. The pathogen grows fine
NOITACILPPA
YTIVITCA
• Small quantity of rice
• A balance
What to do
1 Weigh out 1 g of rice.
2 Count the grains.
3 Calculate the mass of rice that would provide one million grains.
What did you discover?
Were you surprised by what a million looks like?
NOITAGITSEVNI
bathroom sinks. In this investigation, you will test the degree of contamination of four different fomites,
by swabbing the objects and counting the number of bacterial colonies that grow on agar plates.
Aim
To compare the degree of contamination of four different fomites
Materials
Class requires:
• Incubator set to 25°C
Each group requires:
• 4 nutrient agar plates
• Marking pen
• Unopened box of sterile cotton swabs
• Sticky tape
• Disinfectant solution
Risks
WHAT ARE THE RISKS IN DOING THIS EXPERIMENT? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
Micro-organisms will grow on the agar plates. Do not open plates once they are securely taped.
Dispose of plates appropriately.
Disinfectants may damage clothes and cause skin irritation. Wear gloves and lab coats.
Procedure
Note: to minimise contamination, wipe the bench down with bleach or alcohol before you start.
1 Choose four objects, such as a doorknob, chopping board or coin, that you think may be covered
with bacteria. Write a hypothesis to predict the degree of contamination of your four different
fomites.
2 Sample one of your objects by rubbing a sterile swab tip across its surface.
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3 Open the lid of the agar plate and, starting at the top, gently drag the swab in a zig-zag motion
down and across the agar, taking care not to gouge the surface.
4 Replace the lid quickly, seal the plate with sticky tape and label it with your group’s name and the
name of the object.
5 Repeat steps 2 to 4 using your other fomites.
6 Place plates in an incubator at 25°C for 24–48 hours.
7 Ensure the bench is wiped down with bleach or alcohol and wash your hands thoroughly.
8 Devise a way of scoring the amount of bacterial growth on each plate (e.g. no coverage, partial
coverage, complete coverage etc.).
9 The next day, do not open the plates. Use your scoring system to record the amount of bacterial
growth on each of the plates.
10 Dispose of your plates as instructed by your teacher, ensure the bench is wiped down with bleach
or alcohol, and wash your hands thoroughly.
Results
1 Record your results for each fomite in a suitable table.
Analysis of results
1 Which fomite grew more colonies? Why do you think this was the case?
2 Describe the pattern observed in the size and number of colonies in the streaking on each plate.
Discussion
1 Was there a control in this experiment? Explain why this is, or is not, important.
2 List four factors that you would need to control to make this a fair (valid) test.
3 Identify any possible limitations in the data by considering the sample size and measurement
errors.
4 Write a conclusion, ensuring that you refer back to your hypothesis.
Thinking deeper
It is clear that inanimate objects and the hospital environment can become contaminated with
dangerous pathogens, and that these organisms can persist for long periods of time if not eradicated.
Fomites
Many Gram-negative species, such as Escherichia coli, can survive on inanimate surfaces for months.
More information Mycobacteria, including Mycobacterium, also survive for many months on surfaces. A few others, such
about fomites can as Haemophilus influenzae and Vibrio cholerae, however, persist only for days. Explain how fomites can
be found here. be directly linked to patient infection.
In which areas and on which equipment would you expect most contamination to occur, and how
could you mitigate the spread of pathogens?
Design your own similar investigation into the effectiveness of three different antiseptics/antibiotics/
antimicrobials such as Dettol, honey, tea-tree oil.
Use four Petri dishes. One acts as a control without an antimicrobial.
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CHAPTER 12 SUMMARY
WS
Chapter 12
• Disease is any condition that interferes with contaminated food or water, or disease- Activity sheet
the proper functioning of an organism. specific vectors.
• Infectious diseases are caused by any agent • Specific diseases are characterised by
that can be transmitted from one organism their virulence, incubation period and
to another. recognisable symptoms.
• Pathogens are disease-causing agents. • People differ in their susceptibility to
Cellular pathogens include bacteria, fungi, various diseases.
protists, endoparasites and ectoparasites. • Viruses and certain parasites are host
Viruses and prions are non-cellular specific. Zoonoses can be transmitted
infectious agents that are always pathogenic. between vertebrate species.
• Pathogens have adaptations to ease their • Pathogens have adaptations to facilitate
entry into cells of vectors, intermediate their transmission between hosts.
hosts and the final host. Examples of such adaptations include
• Transmission of disease occurs through long-lasting resistant spores (or similar,
various means, including direct contact, which enable them to remain dormant
close contact and indirect contact. outside a host), use of a vector, and ability
Contact can be with body fluids, the air, to exist in water.
CHAPTER 12 GLOSSARY
Bacteria Microscopic unicellular organisms that Endospore A tough, dormant structure formed
do not have a nuclear membrane or membrane- by many species of bacteria to help them resist
bound organelles – they are prokaryotic unfavourable conditions and disperse to new
Bacterial capsule A slimy layer surrounding hosts
the cell wall of some species of bacteria Filament A thread-like series of tubular
Bacteriophage A virus that invades bacteria cells connected end to end; each cell is
surrounded by a cell wall; each filament is
Binary fission The division of a cell into
a hypha, and multiple filaments are called
two cells without mitosis; a prokaryotic cell
hyphae; a mass of interwoven filaments is
undergoes binary fission to form two identical
called a mycelium
daughter cells; a form of asexual reproduction
Flagellum A whip-like tail, which provides
Body fluid Any liquid that comes from inside
a zoospore and some other motile single cells
the body
with locomotion
Capsid The protective protein coat of a virus
Fungi A diverse kingdom of spore-producing,
Chitin The polysaccharide that is the main eukaryotic organisms; they have a cell wall
component of fungal cell walls and the made of chitin; they do not possess chloroplasts;
exoskeletons of insects and other arthropods they have a complex cell cycle, in which
Communicable Able to be communicated spores can develop into hyphae then grow into
(transmitted) from one organism to another a mycelium; they can be unicellular, but are
Contagious Able to be transferred by direct mostly multicellular
contact Gall A brown, roughened lump of
Endocytosis A process by which material can undifferentiated tissue on the crown of a plant
pass into a cell: the cell membrane folds inwards (where the roots meet the stem on a small plant,
to form a small sac around the incoming material or where a branch meets the trunk of a tree); it
or may extend outwards for larger particles (in looks tumour-like
which case it is termed phagocytosis)
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Toxin A waste product of bacteria and other Virulence A measure of the ability of a
microbes that is poisonous to a host pathogen to cause severe disease within its host
Transmission Transport of a pathogen from Virus A non-cellular pathogenic agent,
an infected host or a reservoir to a susceptible containing either DNA or RNA, that can only
host reproduce inside a living host cell
Unicellular Single-celled Zoonotic disease A disease that animals
Vector In reference to diseases, a vector is an pass to humans; an infection that is naturally
agent that transmits pathogens from one host to transmitted between other vertebrate animals
another; in genetics, it refers to a vehicle used to and humans
transfer DNA sequences from one organism to Zoospore A spore with a flagellum; it is one of
another several forms of a fungal or protistan organism
Understanding
8 Explain why classifying protists is challenging.
9 Which human systems are infected by the tuberculosis and malaria pathogens?
10 Explain why the symptoms of tuberculosis and malaria are so different, based on your answer
to Question 9.
11 Draw an annotated diagram of the process by which bacteria reproduce.
Applying
12 Differentiate between pathogenicity and virulence, and include examples of organisms that
demonstrate these features.
13 Define endocytosis and describe how it is applied in virus replication and in macrophage
phagocytosis of tuberculosis bacteria.
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40 000
30 000
elttac ESB fo rebmuN
20 000
10 000
0
1985 1990 1995
Year
FIGURE 12.17 Number of cattle infected with BSE from 1985 to 1995
a Describe the trend in numbers of BSE-infected cattle in Britain from 1985 to 1995.
b Suggest a reason for the decline in the incidence of BSE since 1992.
c The infectious agent that causes BSE can infect humans, causing Creutzfeldt–Jakob disease.
Does this make Creutzfeldt–Jakob disease zoonotic? Explain your answer.
16 Consider the stages in the replication of a virus. Imagine you are a chemist trying to find
antiviral medicines. Describe two points at which a virus would be susceptible to antiviral
chemical therapies.
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13
SPREAD OF CHAPTER 13 CONTENT
By the end of this chapter, you will have covered the following
PATHOGENS material.
STARTER QUESTIONS
1 Can you give examples of the different ways pathogens can
spread from host to host?
2 Why are some pathogens spread more easily and transmitted
further and faster than others?
3 How are some infectious diseases transmitted by
mosquitoes?
SCIENCE UNDERSTANDING
» the life cycle of a pathogen and its associated diseases,
including the method of invading the host, the impact on
the host, and the mode of transmission (direct or indirect),
determines its success for survival
» the spread of a specific disease involves a range of
interrelated factors, including
– growth of the pathogen population
– density of the host population
– mode of transmission
» transmission and spread of disease are facilitated by regional
and global movement of organisms
» the distribution of mosquito-borne diseases may be affected
by global climatic changes
» many pathogens evolve rapidly in a changing environment
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Infected host
reservoir
Site for
Susceptible host replication of
infectious agent
Some infectious
Mode of diseases have
transmission another
possible reservoir
There are different ways pathogens can enter a host. The susceptible host has various portals
of entry through which the micro-organism can enter. Portals of entry can be mucous membranes,
which are surface membranes that are moistened with slimy, sticky and viscous mucus. Mucous
membranes are found in the human respiratory, gastrointestinal and reproductive tracts. They are
lined with epithelial cells that secrete mucus. Other portals of entry are skin, wounds, eyes and ears.
The outer layer of tissue in a plant or a human is known as the epidermis. It usually provides a
physical barrier to pathogens. As long as it remains unbroken, the tough waterproof skin is an effective
barrier against invaders; however, the external openings of the respiratory, digestive, excretory and
reproductive systems provide ideal entry points into any organism. If the skin is wounded, a pathogen
can penetrate the barrier using the wound as a portal of entry. Examples of pathogens that enter
through wounds include the bacteria Agrobacterium tumefaciens, which causes the formation of a
gall in the crown areas of plants, and Clostridium tetani, which causes tetanus in humans.
Many pathogens enter the host via the same portal that they exit: for example, the pathogen
Mycobacterium tuberculosis, which causes the disease tuberculosis (TB). This bacteria enters and
exits through the respiratory system. The infected host may cough, and the susceptible host may
inhale the airborne droplets containing the pathogen.
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After entry, many pathogens attach to host cells. Some pathogens then multiply in between host
cells or within body fluids, while others, such as viruses and some bacteria, enter the host cells and
replicate there.
The impact on the host can include mild to severe symptoms or signs. Many of these are listed in
chapter 12. Tissue structure and function is usually affected. Tissue damage or abnormal function may
be due to the replication of the pathogen, or toxins produced by the pathogen, and death is a possible
outcome. Symptoms are usually subjective and include the feelings or experiences of a patient, such
as nausea and pain. In contrast, signs of disease are usually objective and measurable and can be
directly observed. Elevated body temperature and breathing rate are considered vital signs of disease.
Key concept
The pathogen life cycle is dependent on having portals of entry and exit to and from a susceptible
host, the ability to replicate, and modes of transmission.
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Direct transmission
Direct contact
Direct contact involves the transmitting of a pathogen through physical touch between the infected
host and a susceptible host via skin or body fluids. Body fluids are any liquids that come from inside
the body, including sweat, tears, vomit, nasal secretions, blood, saliva, sexual fluids and urine.
Close contact
Pathogens can be transmitted via airborne droplets when there is close proximity (usually within
1.5 metres) between infected and susceptible host, particularly by sneezing, singing or coughing.
When an individual coughs or sneezes, small droplets of mucus that may contain pathogens are
ejected, and these can be inhaled by someone close by. A cough, a sneeze or singing can release
millions of microbes into the air in droplets of mucus or saliva that are so small they can remain
airborne for extended periods of time. If a droplet lands on the mucous membranes of a person’s
mouth, nose or eyes, they may catch the disease. Sometimes talking, singing or just breathing out
is enough to allow pathogens to leave the host and become airborne in aerosols. Transmission
by airborne droplets through close proximity is classified as direct, because transmission is by
direct spray over a short distance (before the droplets fall to the ground) from an infected host’s
respiratory system into a susceptible host’s respiratory system. TB and influenza can be spread in
this way.
From a reservoir
Transmission can occur from a reservoir directly to a susceptible host. A reservoir is a living or
non-living site in which a pathogen normally resides and possibly replicates. The pathogen may be
dormant in this site. An example of a non-living reservoir is soil (the reservoir of tetanus bacteria).
In zoonotic diseases, animals act as reservoirs of human disease and transmit the infectious agent to
humans through direct or indirect contact. In some cases, such as ABL, the disease also affects the animal;
in others the animal is asymptomatic. The first step requires the pathogen to exit the body of its current
host. It must then gain transport to a suitable new host, enter their body, establish itself in their tissues and
finally ensure it is once again passed to a new host.
Indirect transmission
Living vectors
A living vector is usually a vertebrate or an arthropod that transmits a pathogen from an infected
host to a susceptible host. Bats and mosquitoes can be vectors. Vectors may be infected, such as
the Anopheles mosquito that transmits Plasmodium. This means the pathogen reproduces inside the
vector. Some vectors are carriers and are not said to be infected, because the pathogen does not
reproduce inside the vector. A vector may also enable a pathogen to penetrate the outer defences
of the potential host in a way that would not be possible unassisted. The varroa mite is a vector for
several bee diseases. It can be infected or be a carrier.
Airborne droplets
Pathogens can be transmitted inside airborne droplets (aerosols) that are sneezed or coughed into the
air and are suspended in air currents for a period of time before being inhaled or landing on a surface
such as a table or tissue (a fomite). Transmission is indirect because it does not occur until later, when
a susceptible host touches the fomite or inhales droplets, or it occurs over a longer distance. These
tiny particles can travel considerable distances in air currents. Crowded indoor environments may
promote the chances of airborne transmission, which explains the increase in respiratory infections
during winter months.
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Influenza, COVID-19
Malaria by mosquitos
Influenza, COVID-19
Soilborne/ Pathogens can swim or be carried through water or wet soil from
waterborne/ an infected host to a susceptible host.
vehicle
Crown gall can enter via a wound
Chytridiomycosis
Phytophthora dieback
Key concept
Transmission of a pathogen can be direct or indirect. Direct transmission requires direct or close
contact between an infected host or reservoir and a susceptible host. Indirect transmission is when
vectors, fomites or airborne, soilborne or waterborne transmission transfers a pathogen from an
infected host or reservoir to a susceptible host.
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NOITACILPPA
important problem in the developed world. Food should be eaten immediately after purchase
or kept hot enough to kill bacteria. If it is to be stored, the food must be cooled very quickly to
prevent the growth of bacteria that could cause food poisoning.
Questions
1 What steps do food manufacturers take to reduce the chances of food poisoning being
caused by their food?
2 Use the weblink or other resources to find out the names of the pathogens that most
commonly cause food poisoning from eating: Foods that cause food
poisoning
a poultry Read this resource to
b beef explore the different
c vegetables. types of contaminated
food.
After the release of new viruses from the epithelial cells, a cough or sneeze may send a spray of
airborne droplets into the air. The droplets may be inhaled by someone in close proximity or (if small
enough) become an aerosol and drift with air currents beyond the 1–2 metres, to be inhaled at a later
time or land on a surface, making it a fomite. Therefore, transmission, although usually direct via close
contact, can be indirect via airborne droplets or fomites.
Deaths caused by influenza or influenza-related illnesses were around 80 in WA during 2019,
which is a significant increase compared with the number in the previous year. The symptoms of
influenza can overlap with those of other illnesses common in winter. Symptoms that are more
common with influenza and which can help distinguish the flu from ordinary colds and coughs
include:
• fever
• severe fatigue
• general aches and pains
• cough
• vomiting and diarrhoea (in children).
Droplet b
a Influenza virus
Influenza virus structure
Nucleic acid
Portal of entry (RNA)
Lipid envelope
Aerosol Capsid
Portal of exit
Fomite
Shared spaces
Influenza virus replication
Distance
FIGURE 13.3 Influenza life cycle: a influenza virus portal of entry, modes of transmission, and portal of exit; b virus replicating inside
epithelial cells in respiratory tract
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mosquito’s saliva is transferred to the potential host via one of the tubes in the proboscis, numbing
the area and preventing the blood from clotting. Blood is sucked up from the potential host through
another tube in the proboscis and into the gut of the mosquito. It’s not until after the mosquito
withdraws its proboscis that the site may become itchy. The saliva exiting the mosquito and the blood
being ingested by the mosquito may both potentially carry pathogens. Female mosquitoes feed on
humans when they are carrying eggs and need protein. Mosquitoes choose their targets through a
combination of smell, heat and visual cues, and continue feeding until their abdomens are full. Female
mosquitoes live for approximately 1 month and feed, on average, every two to three nights.
The main hosts are marsupials, but the mosquito transmits the virus from marsupials to humans.
The virus does not usually transmit from human to human, and therefore the disease is infectious
but not contagious. When a female mosquito vector takes a blood feed from a marsupial reservoir
such as a western grey kangaroo, it pierces the skin and a blood vessel in order to suck blood. If the
marsupial is a natural reservoir for the Ross River virus, the virus can be transmitted to the mosquito
via the blood. If it is one of the correct species of mosquito, the virus finds receptors on mosquito
epithelial cells to attach to in order to replicate. The viruses then move to the salivary glands, allowing
for further transmission. The female mosquito vector may take another blood feed, this time from
a susceptible human. As in the previous blood feed, the proboscis breaks the skin barrier and blood
vessel wall. Saliva is injected into the site through one tube, and protein-containing blood is sucked
up from the human host into the gut of the mosquito. In contrast to the previous blood feed, the
virus is transmitted to the human host via the saliva. Again, the viruses will find receptors on cells
to attach to. This time, however, they are muscle cells. After primary replication in the infected
human skeletal muscle cells, the virus enters the blood and symptoms begin. It takes 3–9 days after
transmission for symptoms of Ross River virus disease to appear. This period of time is known as the
incubation period.
Mosquito takes
blood feed
containing viruses
from marsupials.
Mosquito
The virus can circulate
around marsupials via
various mosquito
vectors
Marsupial reservoir Virus replicates
inside mosquito
Virus travels to
salivary glands
of mosquito
The same female
mosquito vector
takes another
blood feed, this
time on a human
host and injects
saliva containing
viruses into the
Mosquito vector human host
bloodstream.
Primary replication
Susceptible occurs in the skeletal
human host muscles of the
human host.
Human–mosquito–
human/marsupial
transmission is unlikely
but possible.
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has infected bees internationally and was detected in WA
in 1979. This disease mostly affects worker larvae, but
can also infect adult honeybees. Infected larvae die just
before pupation. The virus’s mode of transmission may
be foodborne: the virus can be carried by vector nurse
bees when contaminated food is fed to the brood of
larvae. The virus replicates inside the larval cells, causing
the larvae to display unusual behaviour. The larvae turn
onto their backs and lie stretched out with their heads
lifted. After the larvae die, they turn light- to dark-brown,
and an observer of the hive will see an unusual pattern
of discoloured cappings. After the larvae dry out, they
turn from brown to black and become brittle. Millions
of viruses surround the dead larvae. When humans
clean out dead larvae, they can cause the viruses to be
disturbed and transported to other worker bees.
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a b
c
d
FIGURE 13.7 a A transmission electron micrograph showing colourised bullet-shaped ABL particles; b the bat
host reservoir; c normal human brain; and d human brain with encephalitis
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Bats infected with the virus may show symptoms such as paralysis, weakness, tremors and
seizures. The bats are a reservoir host for the disease. Some bats may be infected but asymptomatic,
so all bats may be considered to be potential vectors. The virus multiplies within the bat and may
travel to its salivary glands. The mode of transmission to humans or horses is direct contact with an
infected bat host via a bite or scratch or other break in the skin, or via the mucous membranes. The
virus replicates locally in the new host and then slowly travels through the sensory and motor nerves
to the central nervous system (CNS), where it causes encephalitis. It then spreads to salivary glands
and other organs via the peripheral nerves. Once the virus replicates within the salivary glands, the
host becomes capable of infecting other animals or humans. The disease is not contagious between
humans, but it is zoonotic.
The incubation period can be 10 days to over a year. This is followed by a course of symptoms
in three phases. The first phase involves a slight fever, headache, nausea and sensitivity to light and
wind. The person may feel sensations around the portal of entry, such as tingling, cold, itchiness,
burning and pain. In most cases, the second phase of symptoms and signs, known as the excitatory
phase, may be experienced as anxiety and unusual eye movements, and the eyes may become
insensitive to touch. Facial muscles may weaken, and heart rate and respiratory rate may intensify,
and these are followed by incontinence and constipation. This may precede the third phase,
encephalitis, which leads to paralysis and coma. The prognosis (likely outcome) of the untreated
disease is death. If promptly treated, however, the disease can sometimes be avoided. There have
been no confirmed cases of ABL in WA, but there have been three cases of the disease elsewhere in
Australia. All were fatal.
ABL
transmission
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1 Droplet nuclei
a b containing tubercle
bacilli are inhaled
and travel to the alveoli.
Bronchiole
Tubercle
bacilli
Alveoli
c
enizamaC ttocS/otohP kcotS ymalA
FIGURE 13.9 a Direct mode of transmission of TB via airborne droplets or particles; b the life cycle in and impact on the host;
c Mycobacterium tuberculosis
Indirect transmission can also occur when an infected person coughs, sending droplets into the
air, because the bacilli may land on a dusty surface. When the dust is disturbed and flies in the wind, it
can carry the bacteria into the air and be inhaled.
When the bacteria enter the lungs, they are transported into the alveoli. In the alveoli, they
multiply asexually by binary fission. Within 2–8 weeks, they are encountered by white blood cells
(phagocytes such as macrophages). These are large cells that engulf invading pathogens by
phagocytosis. The bacteria are able to evade the usual enzymes that destroy pathogens, because
they survive inside macrophages, protected by the waxy mycolic acid in the bacterial cell walls. This
strategy is known as a virulence factor. Instead of destroying the pathogen, the macrophage forms
a barrier shell. It doesn’t break the bacteria down, but does contain it and keep it under a degree of
control. Eventually, the alveoli develop small, round lesions in the area of the infection, now named
a tubercle. In this state, the host has latent TB. The bacteria remain dormant and symptoms are not
experienced by the host. The host is not considered contagious, because they do not have the TB
disease and the pathogen cannot spread to other people.
However, when macrophages can no longer contain the bacteria, the pathogens burst out and
begin to rapidly multiply asexually, again. The infection has now become active, and the host is
contagious and will experience symptoms. The pathogen may enter the bloodstream via capillaries
and spread to other areas of the body, such as the lymph nodes or a bone.
The World Health Organization (WHO) recorded 1.5 million deaths due to tuberculosis in 2018.
Tuberculosis deaths have been recorded for centuries. Nearly one-third of the world’s population
currently has latent TB. There are many factors that contribute to its persistence. One factor is that the
main symptom is a cough, which is the main symptom of several other conditions. For TB, the cough
has to be prolonged (2–3 weeks) to lead to testing. During that period, the person can continue to
spread it, thinking they just have a cold or something minor.
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Tetanus
The disease tetanus is caused by the infectious agent Clostridium tetani. C. tetani is an obligate
anaerobic Gram-positive bacillus. Entry into a susceptible host involves contact with the spore
form of the bacterium, universally present in soil, typically via a deep wound. The spores are also
found in animal intestines and faeces. The bacterial spores will not germinate in a superficial wound
because they are anaerobic bacteria and will only germinate and multiply in hypoxic (low oxygen)
conditions. Wounds that penetrate deeply into skin and soft tissues provide the hypoxic conditions
required for germination of the spore and a portal of entry. After entry via a wound, the pathogen
will start to multiply via binary fission and increase in numbers. During this process, toxins are
released from the cells, transported through the bloodstream, and taken up and transported by
nerve cells (neurons). The disease is caused not by the bacteria itself, but by the potent toxins that
the bacteria produces during its growth. One major toxin is a neurotoxin called tetanospasmin,
which affects the nervous system of its infected host. Once inside neurons, tetanus toxin cannot
be neutralised by anti-toxin. The toxin blocks the release of inhibitory neurotransmitters (chemical
messengers) in the central nervous system. This leaves excitatory nerve impulses unopposed,
resulting in uncontrolled muscle spasms in skeletal muscles. Symptoms include lockjaw, which
is the uncontrolled tightening of the jaw and the inability to open the mouth or swallow, and
violent painful muscle spasms. The muscles of the body adopt an agonising posture known as
opisthotonos: the extensor muscles of the back arch backwards and lock, and the arms flex to
the chest with fists clenched. This can lead to other complications, such as loss of respiratory
mechanisms, diaphragm dysfunction, airway obstruction and fractures associated with severe
muscle spasm. The disease is infectious, but not contagious.
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1 Soil reservoir
• Soil particles containing bacterial spores can be found on
rusty nails and on dog’s teeth.
2 Mode of transmission
• Entry portal is via a deep wound in the skin involving
direct contact with the soil reservoir (such as by stepping
on a nail or being bitten by a dog).
3 Reproduction
• Inside the deep, hypoxic wound, bacterial spores
germinate, grow and multiply asexually via binary
fission.
4 Production of toxin
• During the growth of the bacteria, neurotoxins are
produced (e.g. tetanospasmin), which travel inside
neurons from the peripheral nervous system (PNS) to
inhibitory interneurons in the central nervous system
(CNS).
e
5 Impact on host
• The toxin blocks inhibitory neurotransmitters and nerves
fire continuously, producing rigidity, unopposed muscle
contraction and spasm, including lockjaw (muscles
contract and can’t relax). This can affect breathing and lead
to death.
• Infectious but not contagious
• The pathogen does not normally transmit from human
to human.
FIGURE 13.10 Life cycle of tetanus: a tetanus bacteria spores live in soil; b foot puncture wound; c inside the
deep, hypoxic wound, bacterial spores germinate, grow and multiply asexually via binary fission; d toxins spread
from the wound through the nerves and the blood to the central nervous system and the face; e ‘lockjaw’ (now
called trismus) may occur, intense painful spasms of the jaw muscles
Crown gall
Crown gall disease of plants is caused by the infectious agent Agrobacterium tumefaciens. Bacteria
can be transmitted from one host to another directly (via infected plant root to susceptible plant
root contact) or indirectly [via grafting tools, car tyres, infested soil reservoirs, or movement of
infested soil (such as by work boots or rain)]. Like the tetanus bacterium, A. tumefaciens requires a
wound as a portal of entry. Unlike tetanus, the wound does not have to be deep.
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Note: chytrids lack hyphae, the typical filaments that are common in most fungal life cycles.
Instead, they grow a roughly spherical, smooth-walled zoosporangium or thallus. Inside the thallus,
asexual reproduction occurs, producing new zoospores. The thallus contains a plug that is removed
once the thallus matures, releasing the zoospores into water.
The reasons why this fungus has spread so widely and so quickly could include (i) virulence of
the pathogen (whether it has increased or evolved recently), (ii) the environment (whether there
are more suitable environmental conditions for the growth and survival of the fungus in its
reservoirs) and (iii) the host (whether there is reduced resistance to infection in frog populations).
All these possibilities could potentially be caused by other factors, such as environmental changes
or as yet undetected co-infections. Host, pathogen, environment and modes of transmission are
interrelated.
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FIGURE 13.13 Life cycle of Plasmodia showing a its various forms and where they occur and b details of its asexual reproduction within
the human liver and red blood cells
When infected red blood cells rupture in the process known as lysis, they release merozoites and
their metabolic wastes into the bloodstream. This toxic release induces malarial headaches, chills and a
burning fever. These symptoms eventually subside, but can recur when more cells are lysed, releasing
Malaria life cycle
more merozoites. Ongoing rupturing of red blood cells leads to anaemia (lack of red blood cells), Watch the video, then
which lowers the amount of oxygen that is transported to cells. If left untreated, the host may develop draw your own life cycle
of Plasmodia.
enlargement of the liver and spleen or, in the case of cerebral malaria, brain injury. This leads to death in
severe cases.
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a b
.snommocevitaerc//:sptth( .esneciL 0.3 noitubirttA snommoC
etatS dna etutitsnI cinhcetyloP ainigriV ,hsuB htebazilE
evitaerC a rednu desneciL .gro.doowguB ,ytisrevinU
FIGURE 13.14 aPhytophthora hyphae; b injecting phosphite to manage the spread of Phytophthora in WA
Phytophthora dieback
Read more about the
biology and ecology of
Phytophthora dieback
here.
Phytophthora
reproduction
Zoospores are produced
asexually inside Zoospores are attracted
Mycelium grows in and
sporangia; resilient to and penetrate the
on an infected root.
chlamydospores roots of a host plant.
are also produced
asexually; zoospores are Soil particle
occasionally produced
Zoospore
for reproduction in
soil and plant tissue,
Zoospores are
but read about why
released into the soil.
reproduction is rare in
Australia.
Spore sac
Chlamydospore
germinating in
better conditions
Chlamydospores await
favourable conditions.
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Areas in WA that are currently experiencing spread of Phytophthora include Two People’s Bay Nature
Reserve and metropolitan Perth bushland areas such as Lightning Swamp Bushland. After infecting a plant
such as a jarrah tree, it grows in the roots and rapidly kills it. It does not require a wound for a portal of entry,
as does crown gall, although it can use such a portal. Like fungi, Phytophthora cinnamomi has threadlike
hyphae and produces spores, but unlike fungi its cell walls are cellulose-based rather than chitin-based.
The usual portal of entry is via root tips. Zoospores swim through the soil water and attach to the
root tip cells of susceptible host plants. After attachment, the zoospores grow long, thin microscopic
filaments of cells. Bundles of a few filaments form the mycelial threads known as hyphae that
grow on the surface of infected roots, absorbing nutrients. They then produce sporangia, which
release zoospores. Once the zoospores have swum to and infected a plant, they produce long-lived
chlamydospores (which can survive unfavourable conditions), sexual oospores and further sporangia.
When the soil is dry, Phytophthora cinnamomi can remain dormant in the chlamydospore form
for long periods, until it rains again and conditions are favourable.
The mode of transmission is usually indirect via vehicles such as cars and shoes carrying
contaminated soil. The disease is soilborne and can spread faster when it rains. Transmission can be
direct from infected to susceptible plants by root-to-root contact. Impact on the plant is swift after
transmission. P. cinnamomi attacks the roots, causing root rot. The growth of the protist reduces the
ability of the plant to absorb water and nutrients. Dieback is progressive and death may follow.
Mount Magnet
Laverton
400 mm
Leonora
Geraldton
Moora Kalgoorlie
Southern Cross
Lancelin
Northam
Merredin
PERTH
Norseman
600 mm
Narrogin
Bunbury Ravensthorpe
Kojonup
Esperance
0 200 km
Augusta
Albany
Confirmed Phytophthora species
High
Plant endemism (Hopper and Gioia, 2004)
Low
Annual rainfall 600 mm SW of 600 mm line
FIGURE 13.16 Map showing the association between Phytophthora cinnamomi distribution and higher
rainfall areas with endemic (native) plants
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in the soil, and they actively swim towards contaminated grafting tools, car tyres and
susceptible root tips through wet soil from a human footwear, all of which can transport
infected site. They do not require a wound. The contaminated soil to new places. In addition
entry portal is the finer tips of roots in plants. to indirect transmission, the disease can
The pathogen germinates and grows a cyst spread via direct root-to-root contact between
before growing thread-like structures known infected and susceptible plants.
as hyphae. In the hyphae form, the protist can There is no known cure for the disease
grow into the root cells to absorb nutrients. phytophthora dieback .
Phytophthora cinnamomi’s life cycle is not
limited to one mode of transmission. The Questions
pathogen can survive in dry, unfavourable 1 How is Phytophthora cinnamomi
soil conditions as chlamydospores until transmitted from host to host?
conditions become favourable (warm and 2 How does Phytophthora cinnamomi
moist). Chlamydospores may undergo sexual reproduce?
reproduction or germinate to form sporangia 3 Why are outbreaks of Phytophthora
to propagate more zoospores. Other indirect cinnamomi so difficult to contain and
modes of transmission are vehicles, such as control?
UNDERSTANDING
2 Explain why ABL’s rate of spread may be lower or higher than the other kinds of viral
diseases mentioned (influenza, viral diseases of the honey bee and Ross River virus
disease).
3 Draw a life cycle summary for a chosen bacterial disease.
4 Draw the life cycle for chytridiomycosis.
5 Draw a life cycle for one of the protistan diseases.
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antimicrobial medicines, globalisation, urbanisation, climate change and poor health systems.
Climate-sensitive vector-borne diseases are likely to be emerging due to climate changes and
environmental changes, such as increased irrigation.
Spread is the transmission of a pathogen to susceptible hosts over a wider area and into new
populations. The rate of spread of a specific disease is affected by a range of interrelated factors
(factors that depend on and have an effect on one another), including growth of the pathogen
population, density of the host population and modes of transmission. All play a vital part in spread
and all three factors need to reach particular thresholds or spread will be limited. Successful
replication in host cells, high-density living, and airborne droplet and fomite transmission have meant
that the rate of spread of COVID-19 has been relatively fast.
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areas that contain high levels of the pathogen population and low level of healthcare, which together
allow the transmission to be very effective. In poor countries, TB spreads quickly and easily because
all three interrelated factors exceed their threshold. In higher socio-economic areas of the world,
healthcare is more accessible, disenabling the modes of transmission and decreasing the pathogen
population through medication and prevention measures. A high density of the host population by
itself is not the sole determiner of the spread of an infectious disease.
Mode of transmission
Pathogens have one or more unique transmission modes specific to them. Some infectious agents are
easily transmitted (that is, they are very contagious), whereas others are not easily transmitted. Some of
those that are easily transmitted are not very likely to cause disease (that is, they are not very virulent).
The most worrisome infectious agents are those that are both very contagious and very virulent.
Some pathogens have multiple modes of transmission. One mode of transmission can switch
to another depending on the environmental conditions. Phytophthora is an example of a disease
that can follow two different pathways depending on the
environmental conditions. When conditions are ideal,
zoospores are produced that may swim to another susceptible
plant. When conditions are not ideal, for example during dry Growth of
pathogen
periods, resilient chlamydospores may be produced that can population
survive for long periods of time. When conditions improve,
zoospores develop and complete the transmission.
Pathogens may be transmitted through direct and/or
indirect contact. When pathogens can be transmitted via Density
Mode of
of the host
several modes of transmission, this increases their chance of transmission
population
spreading. However, the pathogen still relies on a threshold
number of pathogens being present and a certain level of host
population density to successfully spread. If there are multiple
modes of transmission but few hosts or pathogens, then there FIGURE 13.17 Interrelated factors
is a limiting factor and spread will be limited. influencing the spread of pathogens
Globalisation
For most of human history, continental populations have been relatively isolated from one another.
Only relatively recently has there been extensive contact between the humans, plants and animals of
different continents. Initially, new infectious diseases could spread only as fast and far as people could
walk. Then they started spreading as fast and far as horses could gallop and ships could sail. Globalisation
is a modern phenomenon and it is having a big impact on the spread of disease. Globalisation is the
process by which the world is becoming increasingly interconnected as a result of massively increased
trade, economic, travel and cultural exchange. The efficiency, speed and reach of modern transport puts
people at risk from the emergence of new strains of familiar diseases, and from completely new diseases.
In addition, the growth of global economic activity, tourism and human migration is leading to ever more
cases of the movement of both disease vectors and the diseases they carry.
Disease can quickly spread to new areas if infected hosts travel into different regions or areas of
the globe. Tourism and trade such as in poultry and fruit can facilitate the transmission and spread
of diseases. Transmission involves the transport of a pathogen from reservoir to susceptible host,
and spread involves transmission into wider areas and new populations. Transmission and spread of
disease can be due to war, refugees seeking safety, and legal and illegal trade in wildlife. Pathogens
can be transported in the traveller or on objects being transported. In our increasingly interconnected
world, new diseases are emerging at an unprecedented rate, and they have the ability to cross borders
and spread rapidly, as has been the case with COVID-19.
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Measles is a highly contagious viral disease spread by tiny airborne droplets when infected people
sneeze or cough. It had virtually been eliminated from WA for approximately 20 years by vaccination
and isolation of cases. Outbreaks, however, have occurred when an infected international tourist
has visited the state or via a returning WA traveller who has been infected. The incubation period is
7–21 days. Therefore, someone can be unaware they are contagious. Australians currently rely on
herd immunity to keep the minority of unvaccinated, vulnerable individuals protected and to prevent
spread. A fly-in, fly-out worker infected with the virus was diagnosed on the 12 October 2019, 10 days
after flying into Christmas Creek mine site in the Pilbara. The worker was then promptly quarantined.
However, in addition to the workers at the mine site, workers at the airport and people on the plane
had been exposed to the infection.
African swine fever (ASF) virus is endemic to sub-Saharan Africa. A disease is said to be endemic
when it is always present in the region. ASF is caused by a DNA-type virus, and there is no vaccine
or cure. It can spread directly through live or dead pigs and their body fluids. It can also be spread
indirectly through animal feed that contains pork infected with ASF, or via fomites such as transport
storage surfaces, shoes and clothes. The virus has high environmental resistance; that is, it can survive
in extreme, dry temperatures.
FIGURE 13.18 Number of outbreaks of African swine fever, September 2019 – March 2020
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the country, causing the death or culling of more than 1 million pigs. The epidemic then expanded
across borders to become a pandemic. An epidemic is a sudden increase in the prevalence of a
particular disease that spreads rapidly through a region or nation after an outbreak. A pandemic is the
rapid spread of a particular disease throughout the world, crossing international borders. By October
2019, ASF had jumped borders to Vietnam, Cambodia, Mongolia, Hong Kong, North Korea, South
Korea, Lao, Myanmar, The Philippines, Timor-Leste and parts of Europe.
Increased Decreased
Middle atmosphere temperature Net decrease in glacier volumes
Increased
Water vapour
Decreased
Extent of
sea-ice
Decreased
Polar ice sheets Increased
Air temperature
Increased over land
Increased Sea level
Air temperature
over ocean
Increased
Sea surface
temperature
Increased
Ocean heat content
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temperatures, rising global sea levels, long-term sustained widespread reduction of snow and ice
cover, and changes in atmospheric and ocean circulation and regional weather patterns, which
influence seasonal rainfall conditions (Figure 13.20).
Projecting future
Climate change has led to an increase in more severe weather events, including heat waves and climate change
storms, and these are expected to become more common. The causes of climate change are complex, Read the information,
watch the video and
but one root cause is the following series of events. The gases released during the burning of fossil describe the link
fuels and agriculture are predominantly greenhouse gases, such as carbon dioxide, methane and water between greenhouse
vapour. These atmospheric gases trap solar energy that otherwise would radiate out of the atmosphere, gases and global
warming. Describe
retaining heat in our atmosphere. Increased levels of these gases in our atmosphere has resulted in a how this has affected
rise in average global temperatures. The higher temperatures are causing the climate to change. This Australia.
affects the weather. Some geographic areas will have more rainfall, and some will have more drought.
Models have been used to project future climate change, but scientists cannot know for certain 13.2
the quantities and sources of greenhouse gas emissions. Apply your knowledge of the scientific
NOITACILPPA
method (such as observation, hypotheses and variables) to describe how scientists use past
knowledge to project future changes.
Antibiotic resistance
Evolution is the cumulative, gradual, inheritable change in a population over generations and usually
a very long time. The pathogens investigated in this text are all microscopic, but bacteria and viruses
stand out as being the smallest. Small and unicellular, bacteria have one enormous advantage
over larger, multicellular organisms, and that is their reproductive rate. Bacteria can reproduce
asexually within minutes by binary fission. If a mutation or alteration causes a tiny change that gives
the bacterium just a tiny advantage, then it can spread rapidly due to the high reproductive rate.
Environmental factors impose a selective force on populations, including pathogen populations. The
environment is changing at a faster rate than at earlier times in history. Factors such as average air
temperature and habitat loss are driving forces behind a more rapid evolution of pathogens.
Antibiotics are medications that destroy or slow down the growth of bacteria. They are also
known as antibacterials because they only act on bacteria. Antibiotics have been misused over time,
and this has led to the evolution of bacteria with resistance to antibiotics. When antibiotics were
first synthesised, they killed most bacteria and were used to treat many affected people and pets. All
bacteria in a population died, including any resistant strains of the bacterium. Either through mutation
or gene transfer, a bacterium can, however, gain a gene that provides resistance against the antibiotic.
When the antibiotic is taken again for an infection, all but the resistant bacteria die. The resistant
bacteria survive and reproduce and pass their resistance gene on to offspring. This problem has been
exacerbated by patients not taking a complete course of antibiotics. When they are only taken for
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the first few days, the weaker bacteria are killed, leaving behind more resistant bacteria. After many
generations, a new population of resistant bacteria have evolved. This is a form of natural selection.
The selective pressure of an antibiotic is selecting for the antibiotic-resistant strain of bacteria to
survive, reproduce and pass on the advantageous trait.
As new antibiotics have been synthesised, the environment for bacteria has changed, and the
changes have killed many bacteria. The selection pressure has sped up the evolution of bacterial strains.
The environment is changing quickly for many pathogens, due to climate change and use of medications.
This added pressure is forcing pathogen evolution to speed up, which enables an increase in spread.
CASE
STUDY
Horizontal gene transfer and natural selection
Bacteria are able to respond to selective other than from parent to offspring.
pressures and adapt to new environments Mutations usually cause small-scale changes,
by acquiring new genetic traits as a result whereas horizontal gene transfer can cause
of mutation and horizontal gene transfer. much larger changes to a bacterium’s set
Mutation is a modification of a gene and its of traits. Some genes have transferred the
function. Horizontal gene transfer is the code for a trait that makes the bacteria
acquisition of new genes between organisms resistant to a certain antibiotic. Bacteria
Release
of DNA
Antibiotic-
Donor cell resistance gene Recipient cell
1 Bacterial transformation
Release
of phage
Transposon Plasmid
FIGURE 13.21 Three ways in which bacteria acquire DNA horizontally. In this example, the bacteria are
acquiring genes that make them resistant to antibiotics.
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Host susceptibility
Susceptibility of urban areas to epidemics and pandemics of infectious disease can be related to high
population density, poor living conditions and lack of adequate healthcare provision. The United Nations
(UN) predicts that the world’s urban population will almost double from 3.3 billion in 2007 to 6.3 billion
in 2050. More than 50% of the world’s population currently live in urban areas, and this percentage keeps
increasing. The reasons for migration from rural to urban areas are many, but it is common that people
migrate in the hope of a better job or a better lifestyle. Most of the increase in urbanisation is occurring
in developing countries, where sanitation and hygiene are relatively poor. In many cities, this has resulted
in very high human densities and all of the issues associated with overcrowding. The following explore
three of the main reasons why urban areas are more susceptible to infectious disease.
Extensive animal keeping, backyard farming, and mixed production systems have also been
associated with disease risks. The outbreaks of highly pathogenic avian influenza in South-East Asia
have been demonstrated to be related to rice production, duck population density, and human
population density. In addition to the traditional backyard poultry–keeping in urban areas, there
are increasing trends of keeping small flocks of poultry in middle- and high-income urban areas in
many countries. In both cases, awareness of the importance of biosecurity measures is often limited.
Transmission of diseases from bird to human can occur via direct contact, as humans handle birds often
when they keep them.
Opportunities for hygiene practice are limited in developing areas. With overcrowding
exacerbating the situation, disease transmission can be very fast when people are not able to wash
their hands, buy antimicrobial handwash or take medication to reduce symptoms that increase the
chance of spread, such as a runny nose.
Key concept
Factors that affect the spread of disease include the pathogen population size, the density of the
host population, the mode of transmission, globalisation, and host susceptibility. For diseases that
are spread by bacteria, antibiotic resistance is also a cause for concern.
CHAPTER 13 INVESTIGATION
Developed by Southern Biological
NOITAGITSEVNI
Background
An infectious disease is caused by a pathogen that is passed from one host to another. Spread can
occur in a variety of ways, such as through direct contact with an infected individual, indirect contact
via surfaces or objects touched by an infected individual, or airborne droplets that result from
infected individuals sneezing, coughing or laughing. The ease of transmission of disease through
airborne droplets depends on how close the infected individual and potential host are to one another,
as the larger droplets disperse and settle quickly. The common cold and influenza are typically
transmitted through droplets in the air.
Local health departments, WHO and Centres for Disease Control (CDCs) are responsible for
monitoring infectious disease outbreaks. One of their responsibilities is to identify the source of
outbreaks by tracking the routes of transmission. Over the past 100 years, these organisations have
fought the spread of disease by contact tracing, sanitation improvement, vaccine development and
other lines of research. Many of the infectious diseases that have historically been responsible for
devastating epidemics have now been reduced or even eradicated.
Aim
To simulate a real-case scenario of infectious disease transmission and to identify patient zero
Time requirement
45 minutes
Materials
1 screw cap vial with solution (containing either 7 mL 0.001 mol L- hydrochloric acid, HCI or 7 mL 1
1mol L-1 sodium hydroxide,
• 15 mL phenol red indicator in a vial
NaOH) • 1 index card
• 1 plastic pipette • PPE: lab coats, safety glasses, disposable
• Four 96-well plates (for shared use) gloves
• 1 permanent marker
Risks
WHAT ARE THE RISKS IN THIS INVESTIGATION? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
Sodium hydroxide can cause severe skin burns and eye Ensure appropriate personal protective equipment is
damage. worn at all times.
Disposable gloves may pose an allergy risk. Use a type of glove that removes allergy risk and is
suitable for the chemicals being used.
Procedure
1 Collect 1 index card, 1 plastic pipette and 1 screw-cap vial containing solution. The solution in the
vial represents bodily fluid. Your vial will be labelled with a number.
2 There are four 96-well plates labelled ‘0’, ‘1’, ‘2’ and ‘3’. Locate your individual well on the class
plates. This will be labelled with the number corresponding to the number on your vial.
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3 Using a plastic pipette, remove some of the fluid from your vial and transfer 5 drops into your well
on Well Plate 0.
4 Select a partner for your first exchange. Record their name and vial number on your index card.
5 Using your plastic pipette, transfer 5 drops from your vial to your partners’ vial. Return any liquid
remaining in your pipette to your vial. Replace the vial cap and mix the solution by inverting it
several times.
6 Using a plastic pipette, transfer 5 drops of the fluid in your vial into your well on Well Plate 1.
7 Repeat steps 4–6 for the second and third exchanges, depositing the fluid in your vial into your
wells on Plates 2 and 3, respectively. Select a different partner for each round and complete each
step before proceeding to the next exchange.
8 After all exchanges have been made, your teacher will add 1 drop of phenol red; an indicator
solution that will determine whether your vial has become ‘infected’. Vials that turn red or pink
are ‘positive for the pathogen’ (infected), whereas vials that turn yellow are negative; i.e. they did
not become infected.
Negative Positive
(not infected) (infected)
9 Report whether your vial tested positive. If so, share the names of the partners you exchanged
fluids with.
10 Based on your individual results and the data from your classmates, try to identify which vial the
infection spread from. Your teacher will add a drop of phenol red to each of the wells in the well
plates. By observing which samples indicate a positive result in each round of transfers, you may
be able to trace the spread of inspection to the original source.
11 Copy and complete Table 13.2 to identify the source of the infection. Once you have listed the
positive vials and who they had exchanged fluid with, circle the numbers of the partners whose
vials tested positive.
Results
TABLE 13.2 Positive vials and exchange partners
POSITIVE VIAL NUMBERS 1ST EXCHANGE PARTNER 2ND EXCHANGE PARTNER 3RD EXCHANGE PARTNER
NUMBER NUMBER NUMBER
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CHAPTER 13 SUMMARY
Chapter 13 • To survive, pathogens require an effective • Climate change is causing a rise in average
Activity sheet
life cycle. The pathogen needs a portal of air temperature and extreme weather
entry, to exploit nutrients, to avoid host events, including floods. Mosquitoes are
defence mechanisms, to replicate, a portal of more active in warmer temperatures. As
exit and a mode of transmission. previously cold areas become warmer,
• Transmission can be direct or indirect. mosquitoes will spread further, along
• Direct transmission is the transfer of a with the pathogens they carry. Mosquitoes
pathogen from a current infected host, or exploit the extra bodies of water bodies left
other reservoir, to a susceptible future host after floods and rains as breeding grounds,
by direct contact or droplet spread. increasing the area in which they can
• Indirect transmission is the transfer of breed and the number of offspring they can
a pathogen from a reservoir to a host produce.
through non-living vectors (vehicles or • Environmental factors contribute to the
inanimate objects), living vectors (living selective forces on populations, including
intermediaries) or suspended air particles. pathogen populations. The environment
• Pathogens have adaptations that facilitate is changing at a faster rate due to climate
their transmission by various mechanisms, change. Factors such as increased average
including through direct contact, by contact air temperature and habitat loss are driving
with bodily fluids, through the air and via forces behind rapid evolution of pathogens.
contaminated food, through water or by • Urbanisation is the increased trend
disease-specific vectors. for humans to live in cities, and it is
• The spread of a disease can be influenced associated with much higher density living
by three interrelated factors: the host and at times overcrowding. It can also
population density, the population of the be the cause of poorer living conditions,
pathogen and the mode of transmission. especially for vulnerable people living
All three factors need to reach a certain in the lower socio-economic areas of the
threshold for spread to be possible. world. These two factors, combined with
• Globalisation is the process by which limited healthcare provisions, result in
the world is becoming increasingly higher susceptibility to epidemics and
interconnected. Trade of goods and services, pandemics. When an outbreak occurs, it
and tourism facilitate regional and global can quickly spread if people are in close
movement of pathogens. Therefore, disease contact, water is unclean and sanitation is
is spreading globally at a much higher rate poor, and medicine and vaccinations are
than prior to globalisation. inaccessible.
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CHAPTER 13 GLOSSARY
Airborne droplet A tiny particle of liquid Antibiotic An antimicrobial chemical that
suspended in the air as part of an aerosol inhibits or destroys bacteria
(solution in air) that is sneezed or coughed into
air; a droplet can be suspended in an air current Asymptomatic Infected but not experiencing
any signs or symptoms
for a period of time before being inhaled or
landing on a surface such as a table Blood feed The method used by female
Anaerobic bacteria Bacteria that will only mosquitoes to ingest blood: they insert their
germinate and multiply in hypoxic (low oxygen) proboscis, a tube-like mouthpiece, into the
conditions skin and blood vessel of a host to feed on
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blood; during the bite, the mosquito’s saliva is Epidemic An increase in the occurrence of a
transferred to the host; the saliva exiting the specific disease above the baseline level for a
mosquito, or the blood being ingested by the particular population; it tends to refer to larger,
mosquito, may potentially carry pathogens more serious events than an outbreak
Climate change The current climate change Evolution The process of cumulative, gradual,
occurring on Earth encompasses increasing inheritable change in a population of organisms
global average air and ocean temperatures, that occurs over many generations and a
rising global sea levels, long-term sustained relatively long time
widespread reduction in snow and ice cover, Fever Increased body temperature
and changes in atmospheric circulation, ocean
Flagellum A whip-like tail, which provides
circulation and regional weather patterns,
a zoospore and some other motile single cells
which in turn influence seasonal rainfall
with locomotion
conditions. The current change is thought to
be mostly due to human activity, primarily the Fomite A surface or non-living object carrying
an infectious agent
burning of fossil fuels. Already, there has been a
40% increase in heat-trapping carbon dioxide in Gall A brown, roughened lump of
the atmosphere undifferentiated tissue on the crown of a plant
(where the roots meet the stem on a small plant,
Close contact Close proximity (usually within
or where a branch meets the trunk of a tree); it
1.5 metres) between infected and susceptible
looks tumour-like
hosts; it allows the immediate transmission of
some pathogens by airborne droplets such as are Gametocyte An underdeveloped male or
produced by sneezing or coughing female sex cell; the form of Plasmodium that
is ingested by mosquito vectors during a blood
Crown On a shrub or small plant, the site
feed on an infected human
where the stem and roots meet; on trees, the site
where a branch meets the trunk Globalisation The process by which the world
is becoming increasingly interconnected as a
Defence mechanism A mechanism that can
result of massively increased trade, economic,
prevent entry into or persistence of a pathogen
travel and cultural exchange
within a host; it can be a physical barrier such
as skin, or a non-specific cellular process such Healthcare provision The provision of
as phagocytosis medicine, vaccines, bandages and other medical
supplies, healthcare services and facilities such
Definitive host The host in which a pathogen
as hospitals and healthcare professionals
replicates sexually; for example, in the case of
malaria, sexual reproduction of Plasmodium Impact on the host The signs and symptoms
occurs in the gut of the female mosquito of an infectious disease, and its effect on
tissue structure and function; tissue damage or
Direct contact The transmitting of a pathogen
abnormal function may be due to the replication
through physical touch between infected host
of the pathogen or to toxins produced by the
and susceptible host via skin or body fluids
pathogen; death is a possible impact in some
Direct transmission The transfer of a pathogen cases
from an infected host, or other reservoir, to a
Indirect transmission The transfer of a pathogen
susceptible host by direct contact or via droplets
from a reservoir to a host through vehicles
Distribution The location, arrangement or (inanimate objects), living vectors (living
frequency of occurrence of an infectious intermediaries) or suspended air particles;
disease; it describes the patterns of occurrence indirect transmission may require one or more
in geographical areas, such as ‘uniform’ or steps
‘random’
Intermediate host The host in which a
Encephalitis Inflammation of the brain pathogen replicates asexually; in malaria, this
Endemic A disease that is always present in a occurs in the liver and red blood cells of a
population or region human
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Interrelated factors Factors that affect or are Portal of entry The site where a pathogen
affected by one another can enter a susceptible host; includes mucous
Keratin A strong, stable structural protein membranes lining the respiratory tract or the
found in skin, hair, horn and nails gastrointestinal tract, or a break in the skin of an
animal or the bark of a plant
Life cycle The cycle a pathogen goes through
to survive and reproduce; it includes invasion Portal of exit Many pathogens exit the host in
of the host, exploiting a nutrient-rich area of the same way that they enter; other portals of
the host, avoiding host defence mechanisms, exit include excretion from the digestive system
replicating, exiting, and transmitting to new or via the reproductive system
hosts Reservoir An organism (such as a wallaby)
Lysis The process of a cell bursting (verb: to lyse) or habitat (such as soil) in which a pathogen
can reside, and sometimes replicate, prior
Macrophage A white blood cell that can
perform phagocytosis on microbes such as to entering a susceptible host; a reservoir is
somewhere in which the pathogen does not go
pathogens, by engulfing them (see endocytosis
in Chapter 12) and destroying them with the use extinct
of enzymes Sign An objective and measurable experience
Merozoite A relatively mature form of of a pathogen host that is directly observable:
the Plasmodium pathogen; it is the form elevated body temperature, breathing rate, pulse
that develops in the liver of a human host, rate and/or blood pressure are important ‘vital’
exits the liver, and invades red blood cells, signs of disease
spreading among them until some develop into Sporozoite The tiny infectious cell form of
gametocytes a parasite (such as Plasmodium); it is often
Mucous membrane A mucus-secreting the infective agent that enters the host; it is a
membrane that lines the respiratory, digestive, relatively immature form of a pathogen
excretory and reproductive tracts (note the Spread To transmit a pathogen to susceptible
different spelling of the mucous membrane and hosts over a wider area and into new
the mucus it secretes) populations
Mycelial thread Also known as a hypha, a Susceptible host An organism that is
mycelial thread grows on the surface of infected vulnerable to developing infection when
roots, absorbing nutrients; it is highly branched invaded by germs; very young children,
and can be observed by the naked eye, growing older people, people who are ill or who are
on rotten plant roots receiving particular medicines that reduce
Outbreak A sudden, unexpected increase in their immunity, people with long-term health
the prevalence of a particular disease above the conditions like diabetes, and those who
baseline level for that population; it could be are physically weak due to, for instance,
a single case of a contagious disease in a small malnutrition or dehydration can be particularly
community susceptible
Pandemic A disease that has spread rapidly Symptom A subjective experience felt by a
throughout the world; an epidemic that has patient, such as nausea or pain
crossed international borders Threshold A certain level that must be
Phagocyte A cell that is capable of exceeded for a result to be produced (the
phagocytosis; it can be a macrophage or a spread of a pathogen is reduced unless the host
neutrophil population reaches the threshold value)
Phagocytosis The process of engulfing and Transmission Transport of a pathogen from
destroying a microbe an infected host or a reservoir to a susceptible
host
Population density The number of organisms of
the same species living in a particular area at a Tubercle A small, round structure made of
specified time cells that is produced as a result of an infection
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Understanding
4 Summarise the life cycle of the pathogen that causes chytridiomycosis.
5 Describe the site/s and form/s of the parasite Plasmodium during;
a sexual reproduction
b asexual reproduction.
6 Name two diseases with more than one mode of transmission and describe the modes.
Applying
7 Discuss the possible impacts of global climate change on the distribution of mosquito-borne
diseases.
8 Describe two major differences between the pathogen that causes malaria and the pathogen that
causes Ross River virus disease.
9 Provide a rationale for spending money on biosecurity to prevent the varroa mite from entering
Australia.
10 Differentiate between an epidemic and a pandemic.
11 Explain why tuberculosis spreads easily in urban areas of poor countries.
Analysing
12 Compare crown gall and tetanus, using the following terms:
a pathogen type
b pathogen forms
c aerobic
d spores.
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Evaluating
13 Given the increase in antibiotic resistance in recent years, discuss whether we should restrict
the use of antibiotics to only those people with a life-threatening illness.
14 Consider your knowledge of infectious disease and evaluate urbanisation, listing two
advantages (pros) and two disadvantages (cons) for humans.
Creating
15 Design an experiment to test the effectiveness of a new antibiotic on a specific bacterium.
A keep all people on the ship until 10 Discuss how phytophthora dieback disease
everyone has recovered spreads and the management strategies that
B send crew members ashore to obtain can be used to control the spread of this
antiviral medication disease. (10 marks)
C disinfect all eating and recreational [Q39 2018 SCSA]
areas on the ship
D bring in medical personal to vaccinate
people on the ship.
[Q8 2016 SCSA]
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14
PATHOGEN CHAPTER 14 CONTENT
By the end of this chapter, you will have covered the following
MANAGEMENT material.
STARTER QUESTIONS
STRATEGIES 1 Recall one or two diseases you have studied in Chapters 12
and 13. Can you give examples of how Western Australia
attempts to control the spread of those infectious diseases
locally and across the state?
2 Can you describe how Australian authorities have kept many
infectious diseases outside our national borders?
3 Of the pathogens that you have studied so far, which is the
most difficult to manage in terms of controlling spread, and
can you explain why?
SCIENCE UNDERSTANDING
» management strategies are used to control the spread of
infectious diseases, including
– quarantine
– immunisation – herd immunity
– disruption of pathogen life cycle
– medications – antibiotics and antivirals
– physical preventative measures
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*Control of a disease also involves preventative measures, but these strategies are being applied after an outbreak.
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Treatment involves providing healthcare, such as medication and vaccination, at the right time
and cost. Antimicrobial medications are crucial for managing certain diseases, but many medicines
get distributed according to a community’s ability to afford them. Following treatment, if the host no
longer has the pathogen present, or signs or symptoms of disease, then they are said to be cured.
Some epidemics have well-established control measures, yet they remain a threat for many
individuals for a variety of reasons. Influenza remains a threat because the pathogen rapidly changes
strain. TB bacteria have evolved to become resistant to antibiotics. Many people can’t afford the
testing needed to diagnose a disease, or its treatment. For many diseases, eradication awaits financial
help, especially to increase health provisions.
TB
1000000000
TB
DEATHS
Smallpox
Malaria
Plague
Influenza
Cholera
AIDS
FIGURE 14.1 Some infectious diseases have not been eradicated, even after hundreds of years of infection.
segamI yrotsiH ecneicS/otohP kcotS ymalA
FIGURE 14.2 A person infected with smallpox. Vaccination efforts meant that the disease was declared to have
been eliminated in 1980.
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calculating the cost effectiveness of various means of controlling disease transmission. Occasionally,
epidemiologists act as detectives, tracking down the cause of an emerging disease, determining its
reservoir and mode of transmission, and helping organise healthcare workers to bring the disease
under control. Epidemiologists aim to describe patterns of disease, identify causes of disease, and
provide data for management of a disease. They analyse data gathered about notifiable diseases.
Notifiable diseases are communicable diseases that, if diagnosed, are required to be reported to
a state government healthcare working group. In Australia, the Communicable Diseases Network
Australia team have agreed on a list of communicable diseases that require reporting by the public.
Data on notifiable diseases are analysed under the Commonwealth’s National Notifiable Diseases
Surveillance System. If outbreaks occur that put communities at risk, control measures will be
executed. Information can then be sent to international bodies such as WHO for global surveillance
and management. International cooperation and communication are needed to evaluate the risk of
the spread of an infectious disease, including emerging diseases.
In 2018, 27 980 notifiable infectious diseases were reported in Perth. Diseases of concern that
are on the rise include sexually transmitted infections, measles, influenza and varicella. In addition,
although the benchmark for fully immunised 1-year-olds is 95 per cent for achieving community
protection, fewer than this number were immunised that year (93.7%). This is a cause of concern for
epidemiologists, health professionals and government officials and the wider community who wish to
minimise outbreaks of infectious diseases.
Key concept
Epidemiologists develop management strategies which focus on the prevention, control and
treatment of disease, in order to minimise the spread of outbreaks.
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Quarantine
Quarantine is a period of isolation undertaken by potentially infected individuals to prevent the
spread of a contagious disease. Organisms suspected of carrying a disease are isolated from local,
susceptible populations until at least the incubation period is finished, and clinical signs and symptoms
have passed and/or test results are negative. Australia has strict quarantine laws that prohibit the entry
of items that may carry an infectious animal or plant disease. When products are potential carriers of
pathogens, biosecurity officers enforce a compulsory period of isolation of the products. Biosecurity
is a set of strategies that support the prevention of, response to and recovery from diseases that
affect our economy, environment and health. Biosecurity in Australia has maintained a disease-free
status for many of the world’s diseases. Our geographic isolation plays a major role in maintaining this
status, but globalisation has diminished the geographical advantage. With nearly 60 000 kilometres of
coastline offering a variety of pathways for exotic pests and diseases, the Department of Agriculture
screens, inspects and clears the millions of people, mail parcels, baggage, ships, animals, plants and
cargo containers entering Australia every year using X-ray machines, surveillance and detector dogs.
Quarantine is a practice used by our biosecurity officers to stop goods and individuals who have been
exposed to infectious diseases from carrying that disease into healthy, susceptible populations. It is
used to counter the threat of spreading disease via the movement of infected individuals.
If harmful diseases enter Australia, they can cause huge financial losses for many industries,
especially agriculture. It is also costly to attempt to bring a disease under control once it has entered.
The cost of quarantine is much less than the cost to industry that accompanies an outbreak. Northern
Australia has implemented extreme quarantine rules because of its proximity to the South-East Asia
and Pacific region. The Northern Australia Quarantine Strategy is implemented by the Australian
Quarantine and Inspection Service (AQIS) to monitor the comprehensive quarantine regulations for
the coastline from Cairns to Broome, including the Torres Strait.
Quarantine was first used during the 14th century to stop the spread of the bubonic plague. Ships
arriving into Venetian ports had to anchor just outside the port for 40 days before passengers could
disembark. The modern term ‘quarantine’ derives from the Italian word quaranta meaning ‘forty’.
Captains of planes and ships carrying passengers collaborate with biosecurity officers because they
are required to report passengers displaying symptoms of certain infections. In exceptional circumstances,
intensified quarantine measures may be implemented at airports to try to prevent the spread of disease by
air travel. For example, in 2009 during the H1N1 influenza (swine flu) pandemic, thermal imaging cameras
were used at airports to try to detect people with a fever who might have the disease.
On 12 March 2020, COVID-19 was declared a pandemic by WHO. From 28 March 2020,
passengers arriving in Australia from overseas were subject to the Australian Government’s mandatory
quarantine period of 14 days. Passengers were provided with suitable accommodation, usually a hotel,
to stay in during this period. Those in quarantine had to remain in the allocated accommodation until
they were medically cleared to enter the Australian community.
Goods brought into Australia on passenger planes and commercial shipments are also inspected
for high-risk items, such as meat or plant products. These products can then be stopped from
entering the country. Australia has particularly strict quarantine laws because of the potentially
devastating impact of imported pathogens on our unique flora and fauna. As an island, protecting our
borders from imported pathogens and pests is easier than in many other parts of the world.
To protect Australia’s agriculture industry and environment against the influx of disease-carrying
materials and organisms, the following measures are undertaken:
1 inspection of all material brought into Australia; confiscation of suspect items
2 materials and organisms, particularly plants, that display the impact of an infectious disease are
destroyed or kept in quarantine stations
3 monitoring for vectors entering Australia, such as the varroa mite; use of biotechnology to
reliably identify species.
4 Northern Australia on high alert for infectious disease, due to its close proximity to South-East Asia.
5 Any items such as tools are treated before movement between regions.
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WA has remained relatively free of pests and diseases that would adversely affect our agricultural
industries and environment. In March 2020, Queensland fruit fly, a serious pest of many fruits was
detected in Perth. Larvae develop within the fruit, feeding from it and ruining the harvest. When the
Queensland fruit fly
For updates on the adults emerge, females penetrate fruit to lay their eggs. The wound this makes allows fruit-rotting
Queensland fruit fly bacteria to enter. A quarantine area has been set up, along with a baiting and trapping program,
epidemic, refer to this to manage the outbreak. WA farmers rely on quarantine to keep their crops disease-free, enabling
website.
them to export their crops to worldwide markets. The Department of Agriculture and Food, through
Quarantine WA, enforces strict biosecurity legislation on imports. They inspect the following potential
carriers:
• new or used machinery that is used in association with agriculture, animals, mining or earth
moving
• animals or animal products
• bees, honey and other hive products
• animal feed of plant origin other than processed or manufactured feed for dogs, cats and fish
(including hay, straw, fodder, seed and other grain used for animal feed)
• plants or plant products, including flowers, cuttings, bulbs, fruit and vegetables (excluding canned
or cooked plant products)
• seeds
• absorbent pet litter derived from plant material
• soil
• plant-growing media and landscaping material such as potting mix, wood-chips and mulch
• cargo containers
• containers used for, or in connection with, agricultural products
• containers used to transport animals (other than dogs and cats)
• containers of live fish, including all contents and the fish
• vessels and vehicles.
and Attractions
Myrtle rust: WA and South Australia have so far successfully prevented the entry and spread of a plant
dodging the fungus disease – myrtle rust – even though the disease has spread through all other states and
bullet? territories. Learn about it through the weblink.
Read about the
disease in this 1 Explain the potential impact on our environment if it did spread to WA.
article. 2 What role does quarantine play in preventing the disease from entering our state?
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cannot easily be passed on to anyone, and it will quickly disappear again. This is because there will too
few susceptible hosts for the pathogen to be transmitted to. The lack of susceptible hosts provides
protection to the vulnerable people in a community, such as people with a compromised immune
system, new-born babies and the elderly. If a certain threshold of people have been immunised, then
the few who have not have a very low chance of becoming infected. This is an effective management
strategy for preventing epidemics.
Herd immunity does not protect against all vaccine-preventable diseases. The best example
of this is tetanus, which is infectious but not contagious. The bacteria are transmitted from the
environment (soil), not from other people who have the disease. No matter how many people around
you are vaccinated against tetanus, it will not protect you from tetanus.
Infected
individual
Immune
individual
Susceptible
individual
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There are concerns about vaccines. Side effects can be experienced by the recipient. However,
significant harmful side effects are rare.
In Australia, children are routinely vaccinated against a large number of infectious diseases, including
hepatitis B, pertussis, measles, tetanus and poliomyelitis. Groups that are at high risk of infection, such
as people with complex health issues or chronic illnesses, may need additional vaccinations. As new
vaccines are developed, there are immunisation programs against an increasing number of diseases,
with evident benefits to health. Figure 14.5 shows the rates of infection of Haemophilus influenzae and
meningococcal C after the introduction of vaccines against these pathogens.
10 Haemophilus influenzae
vaccination program
introduced
8 Meningococcal (Australia)
setar noitacfiiton noitcefnI
)slaudividni 000 001 rep(
0
1991 1996 2001 2006 2011
Year
FIGURE 14.5 Rates of Haemophilus influenzae type B and meningococcal infection since the introduction of
vaccines against these diseases
NOITACILPPA
immunity. Herd immunity
1 How does vaccination help you? Explore the
principles of
2 How does vaccination help others? herd immunity
3 Describe the principles of herd immunity. and watch the
4 Why does vaccination not help with tetanus? video.
Key concept
Quarantine and immunisation strategies aim to reduce the spread of infectious disease by isolating
potential carriers away from the population (quarantine) and reducing the number of infections of a
population (immunisation and herd immunity).
Question set 14.2b
REMEMBERING 4 Copy and complete the flow diagram
1 Define: in Figure 14.6 (page 478) to describe,
a immunisation in detail, the sequence of events a
b vaccination community experiences in order to gain
c antibodies. herd immunity. One of the steps has been
2 Outline the principles of herd immunity. completed for you as an example.
UNDERSTANDING
3 Apply the principles of herd immunity to
the control of influenza in Australia.
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Vaccination
(or natural immunity)
Specific antibodies
and memory cells
Herd immunity/
protection for the
vulnerable
FIGURE 14.6 The sequence of events a community experiences in order to gain herd immunity
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Plasmodium causes the disease malaria. This protistan pathogen requires two types of hosts in its
life cycle; one of them, the female Anopheles mosquito, also transmits the pathogen from infected
to uninfected hosts. The mosquito gut is where Plasmodium reproduces sexually. Thus, there are
two essential hosts involved in the life cycle: the intermediate host (the human), and the mosquito
vector that also plays the role of definitive host (the host within which the adult form of the parasite
produces gametes).
Plasmodium
(the agent)
Chloroquine + primaquine Kill sexual forms
Early diagnosis
and treatment
Prevent breeding
Reduce stagnant water
Prevent sporozoite Kill larvae
from entering liver
Possible Vaccine Prevent entry
Close doors/windows
Human
(the host)
FIGURE 14.7 Control strategies at the various stages of the life cycle of Plasmodium
Mosquitoes are a vector for the transmission of Plasmodium. They have been targeted as
a control measure. However, adult mosquitoes are highly active and have shown resistance to
insecticides, making population control difficult. It is therefore important to target their larvae. The
pathogen has also shown resistance to the anti-malarial drugs. Each control target is promising,
but it also has issues. Targeting the human host through early diagnosis and the use of medication
has potential, but poverty, low access to health provisions, and poor education have prevented this
approach from breaking the cycle. Killing both the asexual and sexual forms of the parasite has been
made possible, but drug resistance has evolved. Killing the mosquito vector with insecticide has
been effective in large areas of the world, but insecticide resistance has evolved. Lastly, prevention of
transmission via blood feeds through using barriers to infection (such as bed nets, clothing, closed
windows and insect repellent) has reduced the rate, but not all people are diligent or educated about
the effectiveness of these simple measures.
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If all humans could somehow be protected from infections for a few months at a time (e.g.
through vaccination), the malaria parasite would eventually die out, because all malaria-carrying
mosquitoes naturally have a short life span. However, this vector-transmitted disease is not currently
eradicable because so far we have no consistently effective eradication measures.
Travellers to areas where malaria is endemic, and vulnerable individuals living within those areas
(e.g. pregnant women, patients with complex health issues, patients with organ failure), should be
started on chemoprophylaxis (preventative treatment with drugs) against malaria, before travel in the
case of travellers. The chemoprophylaxis involves taking antimalarial drugs every day (or weekly in the
case of some antimalarial drugs), so as to suppress malaria.
In 2002, scientists succeeded in sequencing the P. falciparum genome, which has allowed
researchers to better understand ways to target it. For around three decades, scientists have been making
progress with a number of vaccines. The vaccine that was trialled in Malawi, Ghana and Kenya is the RTS,S
Malaria vaccine trial
Read about a new vaccine, for children up to 2 years of age. Children are the chosen recipients of the vaccine trial because
Australian vaccine in malaria claims the life of one child every 2 minutes. The goal of the vaccine is to induce high levels of
clinical trials.
antibodies to both block the sporozoites from entering the liver cells (part of the pathogen’s life cycle) and
to tag specific infected cells for destruction. However, this vaccine’s effectiveness is currently below 50%.
Scientists are aiming to increase its effectiveness to above 50%.
Key concept
By understanding the life cycle of pathogens, scientists hope to eliminate and eradicate disease by
targeting the persistence, methods of replication and modes of transmission of the pathogens.
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Medications
Medications used to treat infectious diseases come in the form of antimicrobial agents. The type of
antimicrobial depends on the type of organism that is causing the infection: whether the organism is a
bacterium, virus, fungus or protist. Antibiotics are medications that treat bacterial infections, antivirals
treat viral infections, and antifungals treat fungal infections. There are also some antiprotozoal drugs
(such as antimalarials) that treat protistan infections.
Antibiotics
Antibiotics are antimicrobial chemicals that inhibit or destroy bacteria. They target structures or
processes only present in bacteria. They are used as a treatment for an infectious disease and can lead
to a cure. This results in a decrease in the spread of the disease from the infected host.
Bacteria are prokaryotes, so it has been relatively easy to find and develop antibacterial drugs
that have minimal side effects on many other organisms, because eukaryotes have a very different
structure. Antibiotic drugs target structural features and metabolic characteristics of prokaryotes
that are significantly different from those in eukaryotic cells. Drugs used to treat bacterial diseases
can be grouped into categories based on their modes of action. Table 14.1 provides examples of
specific antibiotics and their mode of action on bacteria. Without antibiotics, a simple wound or
straightforward surgery, such as the removal of an appendix, can become life threatening. Pneumonia
would return to being the mass killer it once was.
Antibiotics that are classified as penicillins and cephalosporins all interfere with the synthesis of
the peptidoglycan layer in prokaryotic cell walls. Because eukaryotes have neither the peptidoglycan
components nor the enzymes that synthesise them, these drugs do not affect the host cells. A second
class of drugs (including chloramphenicol, the tetracyclines, and erythromycin) binds to prokaryotic
ribosomes and inhibits protein synthesis. Prokaryotic ribosomes are structurally different from
eukaryotic ribosomes, so these drugs have minimal effect on eukaryotic cells. Nevertheless, some of
them may be toxic to some human tissues when they are used in high doses or for prolonged periods
of time. Rifampicin is one of the antibiotics frequently used for treating TB. This drug inhibits prokaryotic
RNA synthesis.
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Inhibition of cell
wall synthesis
Inhibition of nucleic Disruption of cell
acid synthesis membrane function
Inhibition of Blocking pathways and
protein synthesis inhibiting metabolism
Cell wall
Cell
DNA membrane
Folic acid
Ribosome
Antibiotics have been overused and misused. Misuse occurs when antibiotics have been
prescribed and the full course has not been taken. Other times, patients have been prescribed
antibiotics as a preventative measure instead of a treatment or they have been prescribed too early,
Superbugs that resist
antibiotics can evolve in preventing immune systems from building naturally acquired immunity (these are examples of
11 days overuse). Resistant bacteria have rapidly evolved. Antibiotics act as a selection agent in the evolution
View this video to see
graphic images about of bacteria, because they give a survival advantage to those bacterial populations with the favourable
the misuse of antibiotics characteristic of antibiotic resistance. Bacteria that are resistant to antibiotics survive and quickly
and an investigation of reproduce, passing on the resistance gene. Over many replications, entire bacterial populations can
antibiotic resistance in a
giant Petri dish. become resistant to antibiotics as the resistance gene becomes fixed.
Antibiotics that treat TB have become ineffective over time. The Bacillus thuringiensis (Bt) bacteria
evolved resistance because infected people did not take the complete dose (due to being forgetful
or ignorant). Now, a cocktail of antibiotics needs to be taken over a minimum of 6 months for the
medication to be effective.
Antivirals
Antivirals are antimicrobial chemicals that inhibit the ability of viruses to replicate. This type of
medication only works on viruses, disrupting the life cycle of the virus. If fewer viruses are made,
the duration of the disease will be shorter and the spread of the disease will be reduced. Unlike
other antimicrobials, they do not deactivate or destroy the microbe. Antivirals treat viral infections
by minimising symptoms and infectivity, and shorten the duration of the illness. However, most viral
infections will be resolved by natural immune responses.
Most illnesses due to viruses are treated symptomatically until the host’s immune system controls
and eliminates the pathogen (or the host dies). Antiviral drugs that are used typically target virus-
specific enzymes involved in viral nucleic acid synthesis.
Most of the antiviral drugs now available are designed to help combat HIV, herpes viruses (best known
for causing cold sores and genital herpes, but actually the cause of a wide range of other diseases, such as
chicken pox), the hepatitis B and C viruses (which can cause liver cancer), and influenza A and B viruses.
Designing safe and effective antiviral drugs is difficult, because viruses use the host’s cells to replicate.
This makes it difficult to find targets for the drug that will interfere with the virus without harming the host
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organism’s cells. Moreover, the major difficulty in developing vaccines and antiviral drugs is related to viral
variation. New strains develop rapidly, making previous vaccines obsolete.
Various points in the life cycle of a virus (see Figure 14.10) can be targets for antivirals. Examples of
antivirals acting on the various target points include antivirals that:
1 inhibit binding or attachment (known as ‘entry blocking’ drugs)
2 inhibit entry or penetration by blocking protein channels in the host cell membrane
3 inhibit transcription of the virus by blocking transcription factors to viral DNA
4 prevent the release of the newly assembled viruses from the cell membrane (these have been
used to treat a wide range of influenza strains).
Infectious
virus
Envelope
receptor
binding
Fusion
and entry Transcription Assembly
Budding
Maturation
Viral RNA
Influenza is generally caused by infection with either influenza A or influenza B. Every year
there are one or two types of each of influenza A and influenza B viruses circulating. Influenza can
be treated by antivirals, for example oseltamivir. WHO recommends vaccination as the primary
management against infection and spread. However, after infection, if there is moderate to severe
illness, antivirals are recommended by Australian health authorities, but they must be issued as soon
as possible after onset of symptoms. Currently, there is no significant evidence of resistance to
antivirals in recently circulating strains of influenza A or B.
Handwashing
Regular handwashing can prevent individuals from contracting infections, particularly those that
are spread by faecal–oral or direct contact routes. On a global scale, handwashing can significantly
reduce the mortality from certain infections, such as diarrhoeal illnesses.
Handwashing is most effective if warm water and soap or antiseptic handwash is used. An
antiseptic handwash contains an antimicrobial substance that inactivates micro-organisms or inhibits
their growth. For example, it might contain 60–95 per cent alcohol, which can destroy the cell wall
and membrane of bacterial cells and the envelope of viruses (including SARS-CoV-2). Handwashing
should include rubbing both sides of hands and in between fingers, finishing with a thorough rinse
and dry. This should be done before preparing or eating food and definitely after sneezing, coughing,
gardening, toilet duties or looking after sick people. Under certain circumstances (especially after
being exposed to an infected host of a disease that spreads via contact or fomites), a shower and
washing of clothes is recommended. Washing removes or kills pathogens, which prevents the
spread of disease. Diseases spread by faecal–oral or direct contact routes are often avoided through
handwashing. If hands are contaminated with an infectious agent, they can easily contaminate food,
and the agent can then enter a host via the gastrointestinal tract.
Sanitation
Sanitation is the safe disposal of human excreta (faeces and urine). Unfortunately, 2.6 billion people
in the world lack adequate sanitation, which leads to the spread of (mainly diarrhoeal) diseases. Many
governments build sanitation infrastructure for their communities, but they can only do so if they have
the funding. Excrement, especially in urban areas, requires safe removal, transport and treatment. This
measure can prevent the oral entry of many infectious diseases, slowing the spread significantly.
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Barriers
Barriers to prevent the transmission of disease and therefore the spread include mosquito nets,
kitchen gloves and surgical masks. Mosquito nets have been made more effective when sprayed
with insecticide. Protection against mosquito-borne diseases such as malaria can last for months,
but susceptible hosts need to be diligent in their use of the nets. Infected hosts of Mycobacterium
tuberculosis can wear a surgical mask. The mask can stop exhaled droplets from being generated
or projected. Healthcare workers can wear specialist masks that are designed to protect them from
inhaling droplet nuclei, helping protect these individuals from becoming infected with M. tuberculosis
when in close contact with a person with infectious TB. Masks have been an important management
tool in reducing the spread of SARS-CoV-2.
NOITACILPPA
Vienna, Dr Ignaz Semmelweis proved that the unhygienic practices of his medical staff caused
septic infections and death in 13% of women after childbirth. Almost two centuries later,
hospital staff worldwide are still being told to wash their hands to reduce disease transmission
between patients. Handwashing campaigns in Australia have raised hand hygiene compliance
in hospitals from less than 50% to more than 75% in recent years.
Questions
1 In which industries do you think it is essential to wash your hands regularly?
2 In public bathrooms, you are often given the choice to dry your hands using a jet dryer or
paper towel. Which do you think is more hygienic?
3 How do instant hand sanitizers kill ‘99.99% of germs without water’?
Key concept
Medications (e.g. antibiotic and antiviral) and physical preventative measures (e.g. handwashing,
filtered water, sanitation, sneezing into your elbow and barriers) help to prevent and control the
spread of disease.
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Less than 1% of bats may be infected. Sick or 4 Do not touch bats. If they are injured, contact the Department
injured bats are more likely to be infected and more of Biodiversity, Conservation and Attractions (WA). Only
likely to be handled. Risk of spread is low, but the experienced, vaccinated people should handle bats and it
risk of infection being fatal is high. should be done while wearing puncture-resistant gloves.
Habitat loss acts as pressure on populations, which
can influence density and cause a higher rate of
transmission between bats.
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Tetanus Is infectious but not contagious. 1 Vaccinate with a modified toxin to stimulate immunity.
Spores of Clostridium tetani are found everywhere 2 Three booster vaccinations should be administered during
in the environment and therefore cannot be adolescence. Immunisation is then stimulated to last
eradicated. throughout much of adulthood. Boosters are required, how-
The neurotoxin causes the infected host harm, but ever, because memory cells decline over time.
not the bacteria. 3 Wash and disinfect puncture wounds. See a doctor at once.
1 2 4 7 9 15
6 months
Birth Long-term
protection
Primary series 1st booster achieved but
2nd booster 3rd booster a booster
(3 doses) 12–23 months
4–7 years 9–15 years recommended
Before 6 months (2nd year of life)
at age 50
≥3-year protection ≥5-year protection ≥10-year protection
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FIGURE 14.12 The Pegg Wheel Management Strategy for managing phytophthora dieback, particularly used for
avocado trees
CASE
STUDY
Managing the spread of disease: coronavirus disease (COVID-19)
WHO monitors, communicates and Knowledge of the biology and ecology of the
coordinates health initiatives. They include pathogen and its disease was essential for
over 7000 representatives from a diverse effective management planning.
array of nations, working collaboratively with Professor John Mackenzie is an Australian
global partners such as the UN, research who is working with WHO as a consultant
institutions and medical professionals. on COVID-19. He was a Professor of Tropical
On 31 December 2019, COVID-19 was first Infectious Diseases at Curtin University,
reported to them from Wuhan, China. It was WA, and has spent much of his career
a disease that could cause pneumonia and, in analysing global aspects of infectious disease
some cases, death. Spread of the disease was management (surveillance and response),
swift. Within 3 months, on 11 March 2020, particularly of emerging zoonotic diseases
WHO classified the disease as a pandemic. such as avian influenza, Australian bat
WHO collected and analysed data from its lyssavirus and Ross River virus disease.
global partners and publicly communicated
information about the spread via its Structure and source of the virus
‘COVID-19 situation dashboard’. The virus responsible for COVID-19, SARS-
WHO’s pandemic management strategies CoV-2, is a novel (new) zoonotic RNA virus.
included helping countries obtain supplies From phylogenetic tree analyses of the
of personal protective equipment (PPE) and available full genome sequences, bats appear to
providing guidelines. The goal was to equip be the reservoir of the SARS-CoV-2 virus, with
all governments and health workers to a potential intermediate host(s). Information
manage cases and reduce the spread. on animals that were in the marketplace in
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Huanan, the place thought to be the origin The virus can persist for a few hours and
of the disease, has been recorded, along up to a few days depending on factors such
with the post-market destinations, in case as temperature and humidity. Due to the
those animals might be a source of further, ease with which this pathogen spreads and
potentially zoonotic, outbreaks. persists, organisations such as WHO and
Signs, symptoms, disease governments require management plans that
are suited to this specific, highly contagious
progression and severity disease. As we do not currently have any
Disease presentation can range from therapeutic medicine or vaccine for the new
no symptoms (asymptomatic) to severe coronavirus, much of the management is
pneumonia and death. Typical signs and undertaken by public health authorities.
symptoms include (in order of highest to
lowest incidence): fever, dry cough, sore Management plans
throat, fatigue, sputum production, shortness 1 Management of cases: Health workers
of breath, headache, muscle aches, chills, require a plan for assessing cases as mild,
nausea or vomiting, nasal congestion and moderate or severe, and treating them
diarrhoea. The mean incubation period (time accordingly. Respiratory support may
period between exposure to the virus and be necessary. Establishing fever clinics,
observable symptoms) is 5–6 days, with a increasing emergency wards, and even
range of 1–14 days. Most people infected opening new temporary hospitals are
with the SARS-CoV-2 virus have mild disease likely to be required. Assistance may be
and recover, but 13.8% have severe disease. needed for at-risk people. Special plans
Approximately 80% of humans infected with for palliative care, pregnant women
the SARS-CoV-2 virus have mild symptoms, and ethical considerations are needed.
especially children and young adults, and Decisions about medical care need to be
recover, but around 20% have severe disease. based on the premise that every person
Individuals at the highest risk for severe is equal, rather than on discriminatory
disease and death include people aged over 60 factors such as age or sex.
and those with underlying conditions, such as 2 Testing and contact tracing: need to be
cardiovascular disease. efficient to reduce spread. The PCR test
Transmission routes uses a method called reverse-transcrip-
tion polymerase chain reaction. If the
SARS-CoV-2 is transmitted via droplets and virus is present in a sample, copies are
fomites during close unprotected direct produced of the virus’ genetic code, which
contact between an infected host and a is in the form of RNA, and the results can
susceptible host. Airborne spread may be be returned the same day. If a patient’s
possible for COVID-19, but it has not been test result is positive, they need to be
observed to any great extent to date. Human- quarantined. In Australia, positive cases
to-human transmission is largely occurring in are reported to the Department of Health
families. SARS-CoV-2 is transmitted directly and Human Services.
via airborne droplets and fomites during 3 Stopping or slowing transmission via
close contact (within around 1.5 m between education and physical preventative
an infected host and a susceptible host). measures: these measures include social
When an infected host coughs or sneezes, distancing, quarantine, isolation, stopping
droplets containing the virus may be inhaled mass gatherings such as sporting events,
by a susceptible host. Indirect transmission closing schools and universities, and
can occur when a susceptible host touches (where possible) having people work at
a contaminated surface, called a fomite, home. Frequent handwashing, regular
and then touches their eyes, ears or mouth. disinfecting of potential fomites, wearing a
This is because many droplets fall on nearby mask and always covering mouth and nose
surfaces and objects, such as tables or phones. when sneezing or coughing are important.
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4 Border biosecurity: National border the vaccine development need to include this
security involves travel restrictions, mutation factor in their planning.
international air arrival passenger caps The virus was grown in labs around the
Coronavirus outbreak: and two weeks’ quarantine on arrival at world, including the Peter Doherty Institute
How the COVID-19 a designated facility. During a pandemic, for Infection and Immunity in Melbourne, to
vaccine is being made
Watch the video and flights are limited, and only applicants study it and to have samples ready for vaccine
read the content to find who are approved for exemption may testing. Animal models at the CSIRO centre,
out about the stages
involved in creating a
travel. In WA, strict state border security also in Melbourne, have been used for testing
vaccine. has been enforced during the pandemic. potential vaccines. Ferrets were chosen as an
People have not been allowed to enter WA animal model because they are susceptible to
without a special exemption, and eligible the SARS-CoV-2 virus and develop symptoms
people have been subject to mandatory, similar to humans. After a vaccine is found to
self-funded quarantine. be safe and effective in animal trials, human
5 Vaccine research: Vaccine research trials are to be conducted.
is being carried out by a number of Currently there are three types of virus
universities, health research institutes vaccines: subunits (that contain parts of a
and companies around the world. An virus), live attenuated vaccines (that contain
important vaccine research group is a weakened form of a virus) and inactivated
based at the University of Queensland. viruses (that contain ‘dead’ viruses that
They are being funded by international cannot replicate). Scientists at the University
agencies to develop a vaccine to SARS- of Queensland are applying a new vaccine
CoV-2. They have developed and patented technology developed in Norway that uses
new ‘molecular clamp’ technology, which features of the proteins found on the surface
it is hoped will make it possible to rapidly of the virus.
develop an effective vaccine. Once a The coronavirus invades a human host cell
vaccine is created, it will need to be to replicate, using ‘spike’ proteins found on the
quickly scaled up and distributed. virus’ outer surface, which are coiled up like
tiny springs. The structure of the spike proteins
enables the outer virus coat or ‘envelope’ to
merge with the cell cytoplasmic membrane,
allowing the virus core containing the viral RNA
genome (along with protective proteins and
evihcrA otohP naciremA /otohP kcotS ymalA
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Questions
1 List the major facets of a management
plan for a disease such as COVID-19.
2 Describe how social distancing slows
transmission.
YCARETIL CIFITNEICS
Bees, those small insects that collect nectar and pollen and make honey and wax, are in
precipitous decline: populations in the US and Britain, for example, have halved over the past
25 years.
Their biggest threat is from the evil-sounding Varroa destructor, an oval-shaped, reddish-brown
mite that sucks the blood from bees and transmits virulent diseases, such as deformed-wing
virus. The pinhead-sized bloodsuckers have decimated bee populations worldwide, including in
neighbouring New Zealand and Papua New Guinea, but have not arrived yet in Australia.
‘If they enter this country, the mites will completely wipe out our wild honeybees, which
means crop growers will lose their largest and free source of pollination, worth more than
$1 billion a year,’ says bee pathologist Denis Anderson of CSIRO Ecosystem Sciences in Canberra.
The mites will also reduce the number of managed honeybee colonies, he explains. ‘This
means keepers will pay more for scarce paid pollination services – costs that [will] flow through
to consumers.’ In addition, most of Australia’s horticultural and agricultural crops, worth
billions of dollars, rely on bees for pollination.
Australia’s national port surveillance program, although currently inadequate to deal with
the threat, is being strengthened. Surveillance for honeybees and bee pests and parasites that
are exotic to Australia forms part of the National Sentinel Hive Program, which is coordinated
by Plant Health Australia.
The program, established in 2000, has been growing steadily, Dr Anderson says. ‘It operates
on the premise that most of the important exotic pests and parasites will enter Australia on live
honeybees from another country – particularly through bee swarms arriving on vessels at our
sea ports,’ he explains. ‘If a swarm was carrying exotic parasites, such as the Varroa mite, those
parasites would spread to colonies near the port, and then on to colonies further away.’
The National Sentinel Hive Program places special hives at sea ports around Australia and
monitors them every 2 months for signs of exotic pests and parasites that may have arrived in
a bee swarm from overseas.
The program’s success depends on how many hives are at each port and the number of
ports targeted. ‘The more of each, the higher the chance of success,’ he says. ‘At present, only a
few hives are based at a few strategic ports – just three hives cover Melbourne and Geelong, for
example – and there are not enough funds to expand the current program.’
This is why the state government has set up Bee Force, a pilot project to improve Victoria’s
capacity to detect incursions of exotic bee pests. Now being trialled in Melbourne and Geelong,
the project involves local amateur beekeepers who run sentinel hives.
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ab
‘This encourages community involvement and expands the number of sentinel hives that
can be used for surveillance, thus keeping costs to manageable levels,’ Dr Anderson says. ‘If the
trial Bee Force program proves successful, it could be extended to other port areas.’
Victoria’s Department of Environment and Primary Industries has trained a honeybee
quarantine response team of 90 beekeepers, including hobby and commercial beekeepers, who
may be called on to assist in an emergency.
The early detection of the Varroa mite, combined with effective surveillance, it is argued,
may increase the chance of eradicating the parasite once it enters the country. This has never
been achieved before.
‘Since it switched host (from the Asian honeybee to European honeybee), the mite has
spread throughout the world,’ Dr Anderson says. ‘Let’s ensure we do everything possible to
keep the parasite out of Australia for as long as we possibly can.’
Spinks, P. (2012) ‘This mite be the bees’ worst enemy’, The Age online, 26 June. The use of this work has been licensed by
Copyright Agency except as permitted by the Copyright Act, you must not re-use this work without the permission of the
copyright owner or Copyright Agency.
Questions
1 List at least three industries that could be affected were the varroa mite to spread into
Australia.
2 Australia is now the only country in the world with a honey industry that is free of the
varroa mite. Spread to New Zealand and Hawaii only occurred relatively recently.
a What characteristic of these three countries allowed them to remain mite-free for so long?
b Explain how strategies to prevent the introduction of Varroa destructor into Australia
utilise this characteristic.
3 Brainstorm some other strategies that could be used to prevent the introduction of Varroa
destructor into Australia.
National surveillance
A widely used method of monitoring disease activity is through the notification of public authorities
when individuals are diagnosed. In Australia, the list of notifiable diseases contains a diverse mix of
more than 70 conditions, including chickenpox, syphilis, rabies and influenza. A doctor who diagnoses
one of these conditions must report the case to the relevant state health authority. Outbreaks or cases
of unusual diseases can then be investigated.
There is a number of limitations to data collected in this way. Not all patients who are infected
with a disease will seek healthcare, and of those who do, not all will receive a diagnosis. Infections
can also be under-reported, and this may be more of a problem in certain populations or with certain
diseases. Together, this means that reported data are likely to be lower than the actual number of
cases. There can also be delays between the onset of symptoms, diagnosis and reporting, which can
limit the ability of public health authorities to respond quickly to epidemics.
In recent years, researchers have been exploring alternative ways of conducting disease
surveillance. The widespread use of the Internet and social media provides a novel data source
from which information about the frequency of different diseases can be extracted. Data from
Facebook, Twitter and mobile phones have been used to monitor disease activity. Google
has developed a program that tracks how frequently people use the search engine to look up
influenza-like illnesses. Figure 14.16 compares data obtained by this method with traditional
reporting data. You can see that the spikes in Google search activity correspond with the peak
influenza season.
3000
Influenza-related
2400
Google search activity
Influenza cases
1800
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1200 Australia
sesac demrfinoc fo rebmuN
600
15 000
April 2009: beginning of influenza
A(H1N1)pdm09 ‘swine flu’ pandemic Google Flu Trends
Visit Google Flu Trends
10 000 for up-to-date data
on influenza-related
US
searches.
5000
0
80
60
90
01
70
80 J
60
90
01
21
11
31
70
11
21
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FIGURE 14.16 Patterns of influenza infection and Google search activity related to flu-like illness in Australia and
the US
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These digital disease surveillance mechanisms have the advantage of providing information to
public health authorities in real time. However, the quality of the data is limited by the effectiveness
of the algorithms in determining whether or not a tweet or search is actually about an illness.
Furthermore, high Internet activity about an illness does not always correspond to high disease
activity, as it can be skewed by other events, such as the illness of a celebrity.
Due to its limitations, digital disease surveillance is not likely to replace traditional reporting methods.
It does, however, provide epidemiologists with an additional tool that complements these methods.
Managing an outbreak
Epidemiologists take a number of steps to investigate a new disease outbreak (Figure 14.17). Similar
steps apply whether the outbreak is a small, localised occurrence or a pandemic. When an outbreak
is suspected, the first step is to confirm that the reported cases do, in fact, meet the definition of an
outbreak. This involves confirming the number and diagnosis of known cases and comparing this with
background levels of the disease.
Once this has been done, investigators can formulate a case definition, indicating which cases
are considered to be part of the outbreak. Case definitions include not only the type of illness but
also the place and time. Such definitions can change and be refined as
the investigation progresses and investigators understand more about Confirm outbreak
the disease. The next few steps (finding cases, gathering information and
developing hypotheses) are easiest if the mechanism of transmission of a
Formulate case
disease is already known. When the mechanism is not known, investigators definition
have to consider a wider range of potential cases and disease sources.
Investigators, then, need to find people affected by the outbreak. Not
all of those who are ill will have sought medical care, or been reported Find cases
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Key concept
Monitoring of pathogens and the outbreak of disease occurs at the national and international level
in order to effectively manage, predict spread and implement disease control measures.
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Probably, SARS-CoV-2
Wuhan, Hubei Province
China, December 2019
FIGURE 14.18 Map indicating the locations of bat-to-human transmission of zoonotic diseases. This data can be used to predict possible
locations of future emerging zoonotic disease.
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YTIVITCA
spread. The disease lab simulator allows you to modify various disease characteristics (infectivity,
mortality rate and duration of infection), population density and vaccination status, and observe their
impact on the spread of disease.
Aim
To explore the impact of several variables on disease transmission.
What to do Disease lab
1 Access the weblink and perform your own investigation. (The first page of the the weblink Use the
interactive lab
provides a link to the simulator and outlines how to use it.) Write up your investigation using the simulator to
standard scientific report format, from Aim to Conclusion (refer to Chapter 1, if you are unsure investigate the
how to write up your report). spread of disease.
2 Using what you have learned in this activity, discuss how the risk of pandemics spreading to
Australia is different now compared with 100 years ago, and identify the pathogens, hosts and
environmental factors that contribute to this risk.
YTIVITCA
Honeybees are vital for pollination of our crops and flowers in Australia. Globally, honeybees are
suffering from various infectious diseases, many of which are caused by viruses. Fortunately, several
of these pathogens have been prevented from entering Australia due to our geographically isolated
location and strict biosecurity. Read page 438 to find out about the epidemiology and pathology
involved in the deformed wing virus (DWV) disease. Epidemiologists look for typical clinical signs of
DWV: shrunken, crumpled wings, decreased body size, and discolouration. However, adult honeybees
with high levels of the virus may not show clinical signs. Finding the source of the disease would be Honeybee report
difficult. Find out about
a major threat
Aim to Australia’s
honeybee and
To learn about the control of disease outbreaks in Australia through the examination of a recent case crop pollination
industries.
You will need
• A computer with Internet access
• A large sheet of poster paper
• Markers and pens
What to do
1 Perform an Internet search about the DWV disease and its outbreak, aiming to find the following
information:
• characteristics of the disease (for example, the type of pathogen, symptoms, mortality,
incubation period and mode of transmission)
• size and impact of the outbreak
• outcomes of the epidemiological investigation (for example, was a source found?)
• control measures used by public health authorities.
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2 Summarise the information on the poster paper. You could use a flow chart or timeline to show
how events unfolded.
3 Using your poster, explain to a classmate what you have found.
4 What sources of information did you choose to use? Explain why you chose these sources and how
you know that they are reliable.
What did you discover?
1 Outline the process of investigating an outbreak, using your case as an example.
2 Explain, using your case as an example, how the mode of transmission of a disease can direct an
outbreak investigation.
3 If an outbreak of DWV disease occurred in Australia, what steps do you think epidemiologists
would take to ensure it was correctly identified, the source found and spread controlled?
Alcohol-based hand rubs are widely used in hospitals as an alternative to frequent handwashing with
soap and water. To use the hand rub, you simply squirt a small amount into the palm of your hand and
rub your hands together so that the liquid covers your hands. The alcohol rapidly evaporates, leaving
your hands dry. In this experiment, you will compare the efficacy of alcohol-based hand rubs with that
of traditional handwashing.
Aim
To determine whether alcohol-based hand rubs or handwashing with soap and water is more effective
How to handrub?
How to
in reducing bacterial load on hands
handwash?
WHO guidelines
Materials
for handwashing • Alcohol-based hand rub
and using • Liquid soap (not antibacterial handwash)
alcohol-based
hand rubs • Sink with water
• Paper towel
• Sterile agar plates (two per student)
• Clear tape or Parafilm
• Hand Hygiene Australia or WHO guidelines for proper handwashing and use of hand rub
WHAT ARE THE RISKS IN DOING THIS EXPERIMENT? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
Agar plates may culture dangerous bacteria. Take care not to open agar plates once they have been
incubated. Autoclave used plates for safe disposal.
Liquid soap or alcohol-based hand rub may be irritating If you know you cannot use one of these products,
to people with sensitive skin. inform your teacher or arrange to use the alternative
one.
Procedure
1 You will conduct this experiment in pairs. One person will use an alcohol-based hand rub and the
other will use soap and water to wash their hands. Form a hypothesis before beginning.
2 Label your agar plates on the underside with your name, the date and your treatment. Label one
plate ‘before washing’ and the other ‘after washing’.
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3 Remove the lid from the plate labelled ‘before washing’ and press the palm of one hand down
firmly on the agar, covering as much of the plate as possible. Replace the lid.
4 Following the guidelines, wash your hands using either the alcohol-based hand rub or soap and
water.
5 Without touching anything, repeat step 3 using the opposite hand on the plate labelled ‘after
washing’.
6 Place the plates upside down (agar layer on top), seal with clear tape or Parafilm and incubate at
25°C for 24 hours.
Results
1 Count the number of colonies on each agar plate before and after handwashing. Record your
results in a table similar to Table 14.3. Combine all class data to increase sample size.
TABLE 14.3 Results of experiment comparing alcohol-based hand rub with soap and water
MEAN
SD
Analysis of results
1 Calculate the percentage reduction in number of colonies for each treatment.
2 Calculate the mean percentage reduction in number of colonies for each treatment.
Discussion
1 Compare the mean percentage reductions for the two treatments. Is there any difference? Do
your results support your hypothesis?
2 Identify some potential sources of error in this experimental design.
3 Explain why you have calculated the percentage reduction in number of colonies, rather than
comparing the number of colonies remaining for each treatment.
4 Do you think that it would be better to use the same hand or the opposite hand for the control
plate? Justify your response.
5 In hospitals, it is not just the ability of the treatment to reduce the number of bacteria on hands
that influences the transmission of infection. Make a list of other factors that might influence
whether alcohol-based hand rubs or soap and water are more effective in reducing nosocomial
(hospital) infections.
6 Design an experiment to test these two treatments in the hospital environment. Ensure that you
list appropriate control(s) and what outcomes you will measure.
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Antibiotics are molecules that are produced by bacteria and fungi as a defence against other
microbes. Penicillin was a revolutionary discovery for the human race in the 20th century. Penicillin,
along with other antibiotic discoveries, suddenly provided us with a weapon against an invisible
enemy. Antibiotics have been harnessed by scientists and medical professionals for treating disease
and saving lives. Since that first discovery of antibiotics, they have been developed for use against
the broad range of pathogenic microbes. Unfortunately, this weapon has become dulled in the past
decade, because overuse has led to antibiotic resistance. Antibiotic resistance occurs when bacteria
evolve to become resistant to the antibiotics that have been used to fight them. As a result, antibiotic
medicines are not able to kill certain bacteria as effectively, and medical professionals have been
forced to find alternative solutions. Not all antibiotics work against all bacteria, and knowing which
bacteria are susceptible is essential to finding the best treatment for disease.
Aim
Investigate antibiotic effectiveness against common bacterial strains
Time requirement
45 minutes
Materials
• Escherichia coli broth culture • Permanent marker
• Staphylococcus epidermidis broth culture • Ethanol or bleach
• 4 nutrient agar plates • Bunsen burner
• 2 sterile pipettes • Forceps
• 2 disposable spreaders • Contaminated waste bag
• 2 Mastring antibiotics discs • Sterile forceps
• Measuring ruler or callipers • Incubator
• Adhesive tape • PPE: lab coats, safety glasses, disposable gloves
Risks
WHAT ARE THE RISKS IN THIS INVESTIGATION? HOW CAN YOU MANAGE THESE RISKS TO STAY SAFE?
While lab strains are usually harmless, bacteria may cause Wear lab coats, safety glasses and gloves; wash hands
disease, so assume them to be pathogenic. thoroughly at end of activity.
Decontaminate benches before and after activity. Flood
spills with bleach.
Micro-organisms will grow on the Do not open plates once they are securely taped.
agar plates. Dispose of plates appropriately after autoclaving.
Disposable gloves may pose an allergy risk Use a type of glove with no allergy risk and is suitable for
the chemicals being used.
Procedure
1 To use an aseptic technique, wipe your bench down with ethanol (or bleach) and keep your work
near the Bunsen burner to take advantage of the updraft the flame will create to waft potential
contaminants away from your materials.
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2 Label the bottom of your four agar plates with your name and the
date. Label two plates ‘E. coli ‘ and two plates ‘S. epidermidis‘. Label
one plate of each type of bacteria with ‘E‘ for experiment and label E. coli
E
S. epidermidis
E
the other ‘C‘ for control.
3 Using a sterile plastic pipette, transfer a drop of the E. coli bacterial
broth onto the surface of the agar on your two E. coli plates.
4 Working in close proximity to the Bunsen burner, use the spreader E. coli S. epidermidis
to spread the bacterial broth over the plates evenly. If you are using C C
T AP
S PG
9 Repeat steps 7 and 8 for the other experiment plate, flaming the forceps between each application.
10 Seal all four plates with sticky tape and incubate for 24 hours at 37°C, upside down so that the
agar is at the top.
11 Wipe your bench down with ethanol and clean your hands
thoroughly. E. coli experiment S. epidermidis experiment
12 Dispose of all materials safely in a contaminated-waste
bag.
13 The next day, observe for the presence or absence of
growth near the disc, and measure the diameter of any
zones of inhibition. Record your results and contribute to
the class data pool. E. coli control S. epidermidis control
Results
1 Draw a diagram of what you see on each plate. Include
labels.
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2 Copy and complete the table below with the results of your experiment.
DIAMETER OF ZONE OF INHIBITION (mm)
ANTIBIOTIC
Escherichia coli Staphylococcus epidermidis
Ampicillin
Chloramphenicol
Streptomycin
Sulphatriad
Penicillin
Tetracycline
3 Calculate the class average diameter of the zone of inhibition for each antibiotic. Copy and
complete the table below with the results of your experiment.
AVERAGE DIAMETER OF THE ZONE OF INHIBITION (mm)
ANTIBIOTIC
Escherichia coli Staphylococcus epidermidis
Ampicillin
Chloramphenicol
Streptomycin
Sulphatriad
Penicillin
Tetracycline
Discussion
1 Explain the function of the control plate in the experiment. How could a control plate be helpful in
the event there was no growth on the experiment plate?
2 What were four variables that you kept constant in this experiment? How did you control them?
3 Why is it important to pool data from the class results to find the average zone of inhibition for
each antibiotic?
4 What is a zone of inhibition? How were zones of inhibition created in your experiment?
5 Which antibiotic had the greatest zone of inhibition? Explain why this might be.
6 Did your individual results differ from the class results? If so, suggest possible reasons.
7 Which antibiotic would be most suitable for treating an infection by Staphylococcus epidermidis?
8 Which antibiotic would you use if you were unsure of the pathogen in an infection? Explain your
answer.
9 Did your results show any signs of antibiotic resistance?
10 Discuss the impacts that antibiotic resistance has on medical treatment?
11 Why have antibiotics become a less effective treatment for infection in recent years?
Taking it further
Test the efficacy of natural antibiotics on similar bacteria.
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CHAPTER 14 SUMMARY WS
• Infectious diseases are spreading more the spread of disease as well as to Chapter 14
Activity sheet
rapidly because of globalisation, travel simulate possible outcomes of specific
and trade. Without rapid management by interventions, such as social restrictions.
governments and communities, infectious Modelling has improved enormously
diseases can cause unprecedented harm to with supercomputing, which processes
people, economics and the environment. higher volumes of data faster while
• Management strategies are a coordinated simultaneously performing incredibly
response involving prevention, control complex calculations. Data involving the
and treatment. Specific infectious diseases complexities of disease factors such as
require specific management plans. population size, environmental change,
• Quarantine, immunisation, disruption of pathogen persistence and antibiotic
a pathogen life cycle, medications and resistance can be used as parameters and
physical preventative measures are examples processed to simulate spread and predict
of measures that can be introduced to the rate and distribution of new cases
prevent the spread of infection. emerging.
• To predict the spread of disease, mathematical • Medications such as antibiotics, which
models are used. Mathematicians and inhibit or destroy bacteria, and antivirals,
biologists work closely to include the which inhibit the replication of viruses,
complex factors to maximise the reliability of are effective for some diseases but have
the model. Such models are used to inform limitations due to specificity and drug
public health interventions, such as mass resistance.
vaccination programs and a safe time to cease • Handwashing, specialised masks and
self-isolation. sneezing into elbows are examples of
• Immunisation is an important tool in physical preventative measures used to
preventing the spread of disease to control the spread of disease.
individuals and throughout a population • Management of an outbreak of a disease,
(through herd immunity). especially an emerging disease, requires
• Quarantine is an isolation measure used an investigation to discover the causative
to prevent the spread of disease into factors.
healthy populations. In Australia, the focus • Systems for monitoring the spread of
of quarantine policy has changed over disease are needed so that public health
time from human diseases to plant and interventions can be well targeted. The
animal pathogens that threaten our unique most common form of disease monitoring
wildlife. involves the reporting of notifiable
• Mathematical models are used to predict diseases.
CHAPTER 14 GLOSSARY
Antibiotic An antimicrobial chemical that Antimicrobial agent A medication used to treat
inhibits or destroys bacteria infectious diseases
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Contact tracing A process for identifying Intermediate host The host in which a pathogen
potential cases; recent contacts of an infected replicates asexually; in malaria, this occurs in
individual are contacted and screened for the the liver and red blood cells of a human
infection Management strategy A coordinated response
Control measure A strategy that reduces the to an infectious disease involving prevention,
incidence and duration of a disease; it involves control and treatment; specific infectious
meticulous preparation and rapid response to diseases require specific management plans
outbreaks at community, state, national and Mortality The impact of a disease within a
global levels population, measured by the number of deaths
Definitive host The host in which a pathogen caused by that disease
replicates sexually; in the case of malaria, Notifiable disease A disease that, if diagnosed,
sexual reproduction of Plasmodium occurs in is required to be reported to public health
the gut of the female mosquito authorities
Emerging disease A disease that has recently Outbreak A sudden, unexpected increase in
appeared in a population, has occurred the prevalence of a particular disease above the
previously but affected only small numbers in baseline level for that population; it could be
isolated places, or has occurred previously but a single case of a contagious disease in a small
only recently been recognised as being due to a community
newly identified pathogen
Pandemic A disease that has spread rapidly
Endemic A disease that is always present in a throughout the world; an epidemic that has
population or region crossed international borders
Epidemic An increase in the occurrence of a
Patient zero The index case (initial patient) in the
specific disease above the baseline level for a
population of an epidemiological investigation
particular population; it tends to refer to larger,
more serious events than an outbreak Persistence Refers to the ability of a pathogen
to survive for long periods of time in reservoirs,
Epidemiologist A scientist who studies the
or to how long the pathogen remains viable
causes and effects of diseases at a population
outside the host
level, and who works to prevent or minimise the
impact of diseases on the population Prevention Preventing transmission of a
disease, onset of disease signs and symptoms,
Epidemiology The study of the occurrence of
and impact on the environment or society
disease in populations
Quarantine A period of isolation serving to
Fomite A surface or non-living object carrying
prevent the spread of a contagious disease;
an infectious agent
suspected cases are isolated from local,
Herd immunity The phenomenon that once a susceptible populations until at least the
particular proportion of a population is immune incubation period is finished, clinical signs and
to a disease, susceptible individuals are also symptoms have passed and a scientist confirms
better protected from the specific disease the suspected pathogen is no longer present
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Understanding
6 Explain why herd immunity cannot be an effective management strategy against tetanus.
7 Some people are unable to receive vaccinations because of a medical condition. Explain why
the vaccination of healthy individuals is important for those who cannot receive vaccinations.
8 Explain why it is important to collect data about disease rates, even when levels are fairly stable.
9 Research a recent outbreak of an emerging/re-emerging disease (such as SARS or swine fever)
and describe the management strategies used to control the spread. Include what was done and
who did it (WHO, UN, government or community).
Applying
10 TB is caused by a bacterium that can lie latent in the body for many years. When it reactivates,
it can cause serious infections of any part of the body, but most commonly the lung. When
diagnosed, patients with reactivated TB are treated for 2 weeks in hospital isolation before
continuing treatment at home. All visitors must wear masks to enter the isolation unit.
a Explain why patients are initially treated in isolation.
b Is this a type of quarantine? Explain why or why not.
c Public health authorities will contact and test other people in the household of somebody
diagnosed with TB. Name this process.
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Analysing
13 Draw a table that compares disease surveillance and predictive modelling (including the type
of information and when each technique is useful).
Evaluating
14 Evaluate the current management strategies used to control Ross River virus disease.
Creating
15 Create a Venn diagram to summarise the management strategies used in controlling the spread
of phytophthora and crown gall diseases.
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3 Tuberculosis will spread most rapidly 5 Outline two distinctly different methods of
through a host population when the density controlling the spread of malaria. (4 marks)
of the host population is [Q35c 2018 SCSA]
A high and herd immunity is low.
6 Discuss management strategies that can be
B high and herd immunity is high.
used to control the spread of phytophthora
C low and herd immunity is low.
dieback disease. (6 marks)
D low and herd immunity is high.
[Q39 2018 SCSA]
[Q2 2016 SCSA]
7 A group of biologists developed a model
4 Select a true statement about TB.
for predicting the spread of influenza in
A TB cannot be prevented.
human populations. As a part of this, they
B People with latent TB can transmit the
collected data on the number of individuals
disease.
per household in two locations, shown in
C TB can usually be treated with a
Figure 14.19.
6-month course of antimicrobial drugs.
D Multidrug-resistant tuberculosis is Compare the number of people per
caused by bacteria that does not respond household in the two locations. Use data
to the standard course of medication from Figure 14.19 to support your answer.
and requires a course of antiviral drugs. (4 marks)
[Q8 2016 SCSA] [Q32a 2017 SCSA]
Location 1 Location 2
80 120
sdlohesuoh fo rebmuN
sdlohesuoh fo rebmuN
100
60
80
40 60
40
20
20
0 0
1 2 3 4 5 6+ 1 2 3 4 5 6+
Number of people per household Number of people per household
8 Explain why data on the number of 10 White spot disease is a highly contagious
people per household are relevant to the viral disease that affects prawns. It is
development of a model for predicting the found in parts of Asia, America, Africa
spread of influenza in human populations. and the Middle East, but generally not in
(4 marks) Australia. A recent outbreak has, however,
[Q32b 2017 SCSA] occurred in several prawn farms on a river
in Queensland. Explain two measures that
9 Can influenza be treated with antibiotics?
could be taken to reduce the risk of white
Explain why or why not. (4 marks)
spot spreading from the affected farms to
[Q32c 2017 SCSA] other parts of Australia. (4 marks)
[Q32e 2017 SCSA]
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INDEX
5’ to 3’ (direction of synthe- Ti plasmid 96, 218 gas balance 343–4, 347 Australian bushfires push
sis of nucleotide strand) use in biotechnology 96, nitrogenous wastes 342–3, threatened species towards
57, 61, 62, 67, 68, 173 218, 219, 221 344, 375–6 extinction 316–17
AIDS 470 salt balance 343, 346, 383 Australian Code for the Care
A airborne droplets 431, 433, thermoregulation 342, 344, and Use of Animals for
abiotic factors, optimal range 434, 484 350–1, 353–63, 397–9 Scientific Purposes 7, 8
for 341 albatross 383 water balance 343, 345, Australian Quarantine and
ABO blood group system alcohol-based antisepsis, 364, 373–4, 377–83, Inspection Service (AQIS)
codominance 148 efficacy of 500–1 384–5 473
genotypes and phenotypes allele frequencies in a gene annealing 174, 175, 196 Australian Sheep Breeding
137–8 pool of a population over PCR 178, 179, 180 Values 151
in Indigenous Australians time 309 Anopheles mosquito 433, Australia’s fossil record 277
308 allele frequencies in a popu- 446, 455, 479, 489 autoclave 7
absolute dating 264, 267–8 lation 293, 297 ant-eating mammals 278 autosomal dominant patterns
accumulation 296 change over generations anteaters 278 of inheritance 153, 156
accuracy 9, 14 298, 299, 305–7, 308, 311 antibiotic resistance 455–7, autosomal gene, inheritance
active immunity 475 alleles 29, 87, 88, 107, 125 471, 482 of single 130–3
adaptations 249, 296, 332 advantageous 298 investigation 502–4 autosomal inheritance 152
physiological, for homeo- inheritance of a single antibiotics 455, 456, autosomal recessive patterns
stasis 347–8 autosomal gene 130–3 481–2 of inheritance 152, 156
structural and behavioural, introduction of new modes of action 481–2 autosomal trait 16
for homeostasis 348 alleles into a population anticodon 66, 71, 72 autosomal trisomy 104
for thermoregulation through mutation 293–5 antidiuretic hormone (ADH) autosomes 29, 43
351–63 ‘tall’ and ‘short’ pheno- 336, 377, 378, 383 avoidable measurement
to maintain an organism’s types 129–30 antimalarial drugs 480 error 14
tolerance limits 347–8 allopatric speciation 313–15 antimicrobials, effectiveness axons 334
adaptive evolution 297–9, process of 315 on pathogens 424
309 alphaviruses 436 anti-parallel strands 62 B
adaptive radiation 270, 271, amino acid sequence of hae- antisense strand 66 bacillus 415
276, 311 moglobin, in humans and antivirals 482–3 bacteria 30, 44, 407, 414–18
of marsupials 276, 277 other primates 260 modes of action 483 antibiotic modes of action
adenine 53, 56, 57, 58, 66 amino acid table 74 apoptosis 44, 74, 91, 95 on 481–2
adhesion 386 amino acids 63, 74 AquAdvantage Salmon® antibiotic resistance
adult stem cells 239 and mRNA codons 74 220, 224 455–6, 482
advantageous traits, passed protein synthesis 65, 70, aquatic birds and mammals classification according to
on to offspring 298 71, 72, 73 nitrogenous waste 376 shape 415
adverse conditions, crops ammonia 342, 375, 376, 377 thermoregulation 358 classification based on
tolerance of 221–2 amphibian chytrid fungus Archaeopteryx 264 composition of cell
aestivation 361, 382 disease 418, 419–20, 434, arid environment plants, walls 415–16
afferent neurons 335 445–6, 488 adaptations for regulation diseases caused by 417–18
African swine fever (ASF) amplifying DNA 175 of water, salts and gases Gram Stain 415–16
230 using PCR 178–80 389, 390–1, 394 and horizontal gene trans-
outbreaks and spread anaerobic bacteria 417, 442 arteries 358 fer 96
453–4 analogous structures 272–4, artificial selection 151, 169, how they cause disease
agarose gel 180 278 299–302 417–18
agricultural industries and anaphase 34, 35 vs natural selection 302 isolation 416
environment, quarantine anaphase I 40, 41 asexual reproduction 26 pathogenic, life cycle
protection 473–4 anaphase II 40, 41 asymptomatic 433 440–4
agriculture 216 anatomy, comparative 270–4, Atlantic salmon, faster reproduction 414–15
DNA identification tech- 278 growth rate 220, 224 structural features 414
nologies in 216–18 ancestor 249 Atlas of Living Australia viral replication in 412
recombinant DNA technol- aneuploidy 103–4 (ALA) 248 bacterial capsule 414
ogy in 218–24 animal breeding 299–300 atmospheric oxygen 252 bacterial transformation 196,
Agrobacterium tumefaciens animal cells Australian bat lyssavirus 200–4
197 cytokinesis 35–6 408, 413, 433, 439–40 bacterial vectors 197, 219
as cause of crown gall dis- water balance 345, 373 life cycle 440 bacteriophages 410
ease of plants 218, 414, animal ethics 7–8 management, prevention baleen whales, evolution
417, 418, 431, 443–4 animals and control 486 274–5
entry through wounds 431, climate change survival transmission 434, 439, bananas, selective breeding
443 362–3 440, 461 301
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INDEX 511
bands on the gel 181 Bowman’s capsule 374 cephalosporins 481 codons 64–5, 70, 71
bar graphs 12 brain 334, 335 chain-termination sequenc- cohesion 386
barley, salt-tolerant 222 branch (phylogenetic tree) ing 186–7 cold climates, plant’s heat
base-pair substitution 93 257 Chargaff, Erwin 53 exchange control 349
bat-to-human transmission breeding behaviour 87 cheetahs 306 cold environments, thermo-
locations of zoonotic dis- brine shrimp, natural selec- chemical mutagens 96 regulation in (animals) 357
eases 498 tion 321–3 chemoreceptors 332, 333 behavioural responses 359
Batrachochytrium dendro- 5-bromouracil 96 chiasma 108 physiological adaptations
batidis 419–20 brood parasitism and fam- chitin 418 359–61
bats, as vectors 433, 440, 451 ily size in black swans chlamydospores 449, 450 structural features 357–9
Bee Force 493–4 199–200 chloride ions 343, 346 common ancestor 249, 254,
bees see honeybees Bt (Bacillus thuringiensis) chloroplasts, DNA in 55 257–60, 270–1, 274, 276,
behaviour adaptations, and gene 197 chordate embryos, similari- 278
homeostasis 348 budding 415 ties 270 common cold 411, 412, 436
behavioural responses burrowing 348, 357, 382 chromatids 33, 39, 108 common marsupial ancestor
to thermoregulation in burrowing bettong (Bettongia chromatin 27, 29, 33, 90 276
cold environments 359 lesueur ) 192 chromosomal mutations communicable diseases 407,
to thermoregulation in hot bushfires 101–7 472
environments 353–5 and climate change 317, devil facial tumour disease Communicable Diseases Net-
beneficial mutations 99, 293 319 45–6, 103 work Australia team 472
beta-carotene (β-carotene) impact on threatened chromosome non-disjunc- communicating your results
221 species 316–17 tion, effect on gametes 15–17
bilbies, thermoregulation 101, 103 comparative anatomy
356–7 C chromosome number, varia- analogous structures
binary fission 38, 414, 441 calcium ions 343 tions in 101–4 272–4, 278
biochemistry, comparative camels 381 chromosome structure, varia- homologous structures
259–60 cancer 91, 95 tions in 105–6 270–2
biodegradation 231 canola, GM 223, 232 chromosomes 54 comparative biochemistry
bioengineered kidney 396 capillary action 386 crossing over 39 and protein conservation
bioengineering 218 capsid 410 of eukaryotes 27–9, 33–5, 259–60
biogeography 225 captive breeding programs, 39–42 comparative dating 266–7
bioinformatics 256–9 biotechnology use 227–9 karyotype 27–8, 101 comparative embryology 269
biological agents, causing carbon dating 267–8 numbers of 43 comparative genomics 188,
mutations 45–6, 96–7 carbon dioxide of prokaryotes 29–30, 38, 254–9
biological fitness 304 exchange between blood 42 made possible with bioin-
biological materials, safe use plasma and interstitial chytridiomycosis (chytrid formatics 256–9
and disposal 7 fluid 332–3 fungus disease) of frogs and mutation rate 259
biological species concept 310 levels, tolerance range 343, 418, 419–20, 434, 445–6 and phylogenetic trees
bioremediation 231 344, 347 history and ecology 420 256–9
biosecurity officers 473 and pH levels 347 life cycle 445 competition 298
biotechnology 169 reducing levels 348 management, prevention complementary base pairs
DNA tools used in 170–4 carbon-14, half-life 267–8 and control 488 53, 57
emerging technologies carriers transmission 445 during transcription 66
237–9 of pathogens 473, 474 cicadas 312–13 complete dominance 149
environmental effects 235 of recessive alleles 152 circular DNA 54, 55 concentration gradient 387
for monitoring endangered carrots, selective breeding clades 254, 257 conclusions (investigations)
species 226–7 301 cleavage 35 14
traditional 169–70 case definition 496 cleavage furrow 35 conduction 352
use in agriculture 216–24 catabolic reaction 348 climate change 221, 317, 319 conservation, importance of
use in captive breeding cattle breeding 301 and animal survival 361–2 225–6
programs 227–9 cell body 334 and mosquito-borne dis- conservation biology 224
use in environmental con- cell cycle 31–2 eases 454–5 conservation breeding
servation 224–32 cell death 44 climate variations 252, 277 programs, biotechnology
use in quarantine 229–30 cell division 26, 31–42 cloning 237–8 use 227–9
see also transgenic organ- cell division errors 94–5 cloning vectors 97 conservation planning
isms cell plate 35 close contact 432, 433, 434 225–6
bird-like dinosaurs 264 cell walls (bacteria) 414, 415 Clostridium tetani 417, 431, contagious diseases 408
bivalent 39 cellular machinery 64 442, 487 continental drift 250
blunt ends 170, 171, 172 cellular pathogens 413–22 coccus 415 continuity of life 26–30
body fluids 408, 432 central nervous system cockroaches 362 continuous variables 6
body temperature see tem- (CNS) 334, 335 coding DNA 63–5 continuous variation 146,
perature centrioles 33 coding strand 66 147
bottleneck effect 305, 306, centromere 27 codominance 148–9, 150 student height 159
317, 319 centrosomes 31, 33 codon table 74 control group 5
9780170452922
512 INDEX
control measures (disease) 470, 471 data recording 10–11 structure and functioning 58–9
controlled variables 5 dating methods (rocks and fossils) 264, structure enables DNA replication 59,
convection 352 266–8 60–3
convergent evolution 258, 278–9 daughter cells 31, 33, 35, 39 DNA code (genes) 65, 67, 69, 70
coordinating centre (modulator) 338, daughter DNA strands 61 DNA–DNA hybridisation 255
339, 373 definitive host 432, 479 DNA fingerprinting 229, 241
coordinating a response (homeostasis) deformed wing virus (DWV) disease of DNA helicase 61, 62
332, 334–7 bees 438, 486, 499–500 DNA identification technologies in agri-
endocrine system role 334, 336–7 dehydration 333, 343 culture 216–18
nervous system role 334–6 deleterious mutations 99 DNA ladder 175, 181–2
coral polyps spawning 110 deletion mutations 94, 98 DNA ligase 61, 62, 170, 172–3, 196
cormorants 314 deletions (chromosomal mutation) 105 DNA microarray technology 184–5
corn denaturation (PCR) 178, 179, 180 DNA polymerase 61, 62, 170
drought-tolerant 222 deoxyribose sugar 56–7 DNA profiling 178, 193–4, 216, 227
selective breeding 300, 301 dependent variables 4 for paternity testing 194
coronavirus disease see COVID-19 descent with modification 296 process involved 193
cotton, GM 219–20, 232 desert animals, burrowing 382 DNA replication 59, 60–3
cough and sneeze into elbow 484 desert hopping mouse (Notomys alexis), enzymes involved 62
countercurrent heat exchange 358–9 water conservation 380, 381, 382 showing leading and lagging
COVID-19 408, 470, 490–3 detecting the stimulus (homeostasis) strands 63
management plans 391–2 332–4 steps involved 62
mandatory quarantine of overseas devil facial tumour disease 45–6, 103, DNA replication errors 93–4
passengers 473 228 DNA sequencing 169, 186–92, 196, 255
modelling, and educating for public dideoxynucleotide sequencing 186–7 for mapping of species’ genomes
safety 497 differentiation 29 190–1
rate of spread 451, 452 digital disease surveillance 495–6 next-generation sequencing (NGS)
signs, symptoms, disease progression dihybrid crosses 138–41 186, 188–9
and severity 491 explanation of ratios 143–4 Sanger sequencing 186–7
structure and source of virus 490–1 solving 141–3 to study ecosystem biodiversity 188–9
transmission routes 434, 491 diploid cells 43, 87 DNA techniques and vocabulary
vaccine development 3, 4, 492 diploid number 29, 33 174–85
Crick, Francis 53, 54 direct contact 432, 433, 434 DNA technologies see biotechnology
critical thinking 132 direct transmission 432, 433, 434 DNA viruses 410, 411
crocodiles, thermoregulation 354, 359 from a reservoir 433 docosahexaenoic acid (DHA) 223
crops discontinuous variation 138, 147 dominance inheritance patterns 148
GM 218–23, 232–3 discrete variable 6 codominance 148–9, 150
herbicide-resistant 218–19, 235 discussion 13–14, 16 complete dominance 149
tolerance of adverse environmental disease management 472–95 incomplete dominance 148, 150
conditions 221–2 disease monitoring 495–8 in terms of genotype and phenotype
see also wheat breeding educating for public safety 497 150
crossing over 39, 108 managing an outbreak 496 dominant allele 124, 125, 126, 128, 129
unequal 94 national surveillance 495–6 dominant mutations 92
crown gall disease of plants 407, 417, predicting the spread of disease 497 dominant phenotype 130
431, 434, 443–4 solving the outbreak 497 double-strand breaks (DNA) 95, 96, 105
life cycle 444 disease-resistant crops 219–20 Down syndrome 104
management, prevention and disease spread, factors affecting 450–8 Drosophila melanogaster (fruit fly) 134
control 488 disease surveillance 495–6 comparative genomics with
transmission 443, 444 divergent evolution 275, 276–7, 311, 313 humans 188
CSIRO AAHL biocontainment laboratory DNA (deoxyribonucleic acid) 26 genetic mapping 191
(AAHL) 230 in chloroplasts 55 monohybrid cross for wing length 135
cutting DNA 170, 171–2 coding and non-coding DNA 60, test cross for wing length 134–6
cyanobacteria 252–3 63–5 drought-tolerant GM corn 222
cytokinesis 31 coding region 69 Duchenne muscular dystrophy 154
in eukaryotic cells 35–6 discovery 53, 54 duplications (chromosomal
cytokinesis I 40, 41 double-helical structure 53, 57, 58, 59 mutation) 106
cytokinesis II 40, 41 drawing and labelling 57–8
cytosine 53, 56, 57, 58, 66 in eukaryotic cells 27, 29, 54 E
extraction 78–9 Earth
D in mitochondria 55, 56 continental drift 250
Darwin, Charles 310, 314 mutagen effects 95–7 geologic timeline 250, 251–2
theory of evolution by natural selec- nucleotides 26, 53, 56–7 life and times of 248, 250–2
tion 249–50, 296 in prokaryotic cells 29, 30, 38, 54 species extinction due to changes in
data analysis 10–13 promoter region 69 climate, sea level and atmospheric
data points 11, 12, 13 structural properties 56–9 oxygen 252–3
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INDEX 513
eastern barred bandicoot (Parameles meiosis 39–42 fertilisation 26, 43–4, 102
gunnii), speciation and conservation mitosis 33–5, 36 filaments 418
240–1 structural similarities and differences filtered clean water 484
Ebola disease 470 to prokaryotic cells 30, 54 filtrate 374
evolution, ecology and health 295 transcription in 66–9 filtration 374
echidnas 278, 354 translation in 70–3 first filial generation (F1 ) 127, 128, 130
ecosystem biodiversity, next-generation viral replication in 411 fish
sequencing to study 188–9 see also fungi nitrogenous waste 376
ectotherms, temperature regulation evaporation 352 osmoregulation 381, 382, 384
350–1, 353–62 evaporative cooling 352, 353 flagellum (flagella) 414, 418, 421
eDNA (environmental DNA) evidence for theory of evolution 250, flamingos 255
NGS to analyse 188–9 253–75 flowering plants, structure 110
to monitor platypus 227 biogeography 253 fomites 433, 434, 484
educating for public safety (infectious comparative anatomy and embryology and pathogens 423–4
diseases) 497 269–75 food poisoning 435
effectors 334, 338 comparative biochemistry and protein foodborne pathogens 484
efferent neurons 335 conservation 259–60 foot and mouth disease (FMD) 230
elephants, cooling ears 353 comparative genomics 254–9 footprints (early humans) 263
Ellis–van Creveld syndrome 307 fossil record 262–8 forelimb of vertebrates, adaptive radia-
elongation (translation) 70 evolution 249 tion 271
embryo splitting 237 adaptive 297–9, 309 fossil record 252, 262–8, 311
embryology, comparative 269 and atmospheric oxygen levels 252–3 Australia 277
embryonic stem cells 238–9 of bacterial strains and antibiotic gradualism 266
emerging diseases 470 resistance 455–6 punctuated equilibrium 266
emigrations 226 bigger picture of 309 transitional forms and the pace of
emperor penguin, thermoregulation 358 convergent 258, 278–9 evolution 264–6
Encyclopedia of DNA Elements (EN- divergent 275, 276–7, 311, 313 fossilisation 262–3
CODE) project 60 evidence for theory of 250, 253–75 fossils 262
endangered species monitoring 224, macro-evolution 309, 310–11 dating methods 264, 266–8
226–7 mechanisms for 293–308 looking at 280
endocrine system 334, 337–8 micro-evolution 309, 310 principle of superposition 263–4
endocytosis 417 theory of evolution by natural selec- process of fossilisation 262–3
endospores 414 tion 249–50, 296 founder effect 305, 306–7
endotherms, temperature regulation see also speciation frameshift mutations 98, 100
350–1, 353–62 evolutionary thought, history of 249 Franklin, Rosalind 53
environmental conservation excretion 342, 375–6 freshwater bony fish, water balance 381,
biotechnology use 224–32 exons 67, 69 382, 384
recombinant DNA use 231 exotic bee pests 434, 438, 493 frogs
environmental factors 88–91 extension 174 behavioural adaptations 348
and genotype 86 PCR 178, 179, 180 chytridiomycosis (chytrid fungus dis-
influencing phenotype 87, 88–91 external environmental factors, influenc- ease) 418, 419–20, 434, 445–6, 488
and variation 88–91 ing phenotype 89–90 isolating mechanisms 311, 312
enzymes 61, 65, 74, 347 external receptors 333 nitrogenous waste 376
temperature and pH effects 332, 344 extinction of species 316–20 water balance maintenance 380, 382
eons 250 Australian bushfires push threatened fruit fly see Drosophila melanogaster
epidemic polyarthritis see Ross River species towards extinction 316–17 fungi 407, 418
virus disease Leadbeater’s possum 319–20 diseases caused by 419–20
epidemics 451, 454, 471 preventing by preserving genetic pathogenic, life cycle 445–6
simulation 459–61 diversity 317 structural features and reproduction
epidemiologists 471–2 WA conservation, extinction and 418–19
epidemiology 471 evolution 318–19
epidermis 431 extrapolation 11, 12, 13 G
epigenetics, affect on phenotype 90 extremities (aquatic birds and mam- Galápagos cormorant 314
epigenome 110 mals), countercurrent heat exchange Galápagos tortoise 310
epochs 250 358–9 gametes 26, 39, 43
eras 250 chromosome non-disjunction effects
ethical issues F 101, 103
embryonic stem cells 239 F1 generation 127, 128, 130 crossing over effects 108
transgenic organisms 232–6 F2 generation 127, 128, 130 independent assortment and random
ethidium bromide 181 feedback mechanisms (homeostasis) assortment effects 108–9
eukaryotic cells 338–40 mutation effects 92
chromosomes 27–9, 33–5 negative feedback 338–40, 347, 355, random fertilisation 109
cytokinesis 35–6 360, 378–9 gametocytes 446
DNA in 27, 29, 54, 55 positive feedback 338, 339 gas balance, in animals 343–4, 347
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pH 332, 343–4 Phytophthora dieback 318, 319, 421, practice exam questions 51, 84, 121–2,
factors altering 347 434, 448–9 166–7, 213–14, 245–6, 290–1, 328–9,
levels, carbon dioxide effects 347 management, prevention and control 370–1, 429, 468, 508–10
tolerance range 342–3, 344, 347 489–90 pre-mRNA 67, 69
phagocytes 441 as massive problem in WA 448, 449–50 pre-reproductive isolating mechanisms
phagocytosis 417 piloerection 358, 361 (pre-zygotic) 312–13
phenotype ratios 129, 136, 138 pilorelaxation 355, 361 prevention of disease 470
dihybrid cross 140–1, 143 pituitary gland 336 primary data 5
monohybrid cross 130, 133 plagiarism 3 primary structure (proteins) 73
phenotypes 86, 87 planning (investigations) 5–8 primers 62, 170, 173–4, 179
different types of dominance plant breeding 300–2 procedure 8–9, 15
relationship 150 plant cells programmed cell death 44, 74, 91
for Duchenne muscular cytokinesis 35 prokaryotic cells
dystrophy 154 water balance 343, 345 binary fission 38
environmental factors influencing plants chromosomes 29–30, 38, 42
88–91 control of heat exchange 349 differences from eukaryotic cells 30
epigenetics affect on 90 gas exchange 389–90 DNA in 29, 30, 38, 54
and expression of alleles 125, 126 specialist, adaptations for regulation structural similarities and differences
for human blood groups 137–8 of water, salts and gases 388–95 to eukaryotic cells 54
influenced by genotype 87, 88 thermoregulation 349, 352 transcription and translation 66
known, predicting the genotype transport and transpiration leading to viral replication in 412
through a test cross 134–7 water loss 385–8 see also bacteria; protists
mechanisms influencing 87, 88 water transport 385–9 promoter 67
of pea plants (Mendel’s experiments) plasmid DNA 196, 197 prophase 34, 35
125, 126–7 plasmid vectors 197 prophase I 40, 41
and polygenic inheritance 146–7 plasmids 29, 66, 96, 169, 176, 195, prophase II 40, 42
predicting using Punnett squares 196, 414 protein conservation and comparative
131, 132–3 Plasmodium 421, 433, 446 biochemistry 259–60
sex-linked inheritance 153–7 life cycle 446–7, 478 protein synthesis 64, 65–9, 74
phenotypic expression of genes control strategies 478–9, 480, 489 materials required 65
86–8 Plasmodium falciparum 421, 446 transcription and translation in
phenotypic variation 86, 87–8 map showing the predicted changes prokaryotes 66
phloem 386 in distribution by 2050 480 transcription in eukaryotes
phosphate group 56 plasmolysis 343 66–9
phosphodiester bonds 56, 59 platypus translation in eukaryotes 70–3
photoreceptors 332, 333 monitoring 227 proteins 54, 70, 74–7
phototropism 337 in opalised fossil 263 structure 73
phylogenetic trees 256–9 pneumatophores 393 protists 407, 420
drawing 258–9 point mutations 93, 97–9, 100, 107 diseases caused by 421–2
relationships between parts 257 polar bears, thermoregulation 357, 358 pathogenic, life cycle 446–50
vocabulary 257 pollutants, bioremediation 231 structural features and
phylogeny 250 polygenes 146 reproduction 421
physical mapping 190 polygenic inheritance 146–7 protozoa 421
physical mutagens 95–6, 111–13 polymerase chain reaction see PCR public health, and genetically
physical preventive measures against polypeptides 58, 66, 70, 72–3 engineered foods 236
diseases 484–5 polyploidy 102, 313 punctuated equilibrium 266
physiological adaptations poor living conditions, and spread of Punnett squares 126
of halophytes 392–3, 395 disease 457–8 constructing 128–9
to thermoregulation in cold population density, and spread of dihybrid cross 140, 141
environments 359–61 disease 451–2, 457 monohybrid cross 131, 132–3
to thermoregulation in hot population dynamics 226 multiple alleles for one gene 137
environments 355–7, 361 populations, variation in 294 sex-linked inheritance 154
of xerophytes 391, 394 pork industry, DNA identification tech- pure-breeding 126–7
physiological processes nologies use 217 monohybrid cross 130–3
and homeostasis 347–8 pork products, ASF virus fragments in
to maintain water balance 230 Q
( osmoregulators) 380–2 portal of entry (for pathogen) 431, 432 qualitative measurements 6
physiological stress 342 portal of exit (for pathogen) 431, 432 quantitative measurements 5
Phytophthora 421 positive feedback 338, 339 quarantine 470, 473–4
life cycle 448 harmfulness of 339 biotechnology use 224, 229–30
Phytophthora cinnamomi 421, 422, post-reproductive isolating mechanisms Quarantine WA, biosecurity inspection
448, 449 (post-zygotic) 313 services 474
transmission 449, 450 posters 17 quaternary structure (proteins) 73
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