Interaction of Genes - Polygenes and Environmental Effects: 1. Human Height

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Interaction of genes – polygenes and environmental effects

Polygenes are a group of genes that get together to control one characteristic. Characteristics that
are controlled by polygenes are the following:

1. Human height
This is the best example for that can be explained under polygenes because this is controlled by
6 genes such that if you possess more than three genes for tallness you are bound to belong
beyond the average height and vice versa which can be easily shown by the following graph.

This graph is known as the


Gaussian or bell-shape curve.

Yet this
characteristic is also affected by environmental factors which include the diet most importantly,
that is even if you posses genes for extreme tallness, if you do not properly intake a diet rich in
Ca still you won’t reach up to that height and similarly if you consume a lot of Ca in your diet
then even if you have genes for dwarfness you still reach up to a tall level.

2. Skin colour in humans


This is another characteristic controlled by polygenes. These genes influence the production of
melanin by cells known as melanocytes. Melanin is a pigment responsible for the skin colour
and there are two types:
a. Black-brown pigments

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b. Red-yellow pigments
This production is controlled by 3 or 4 or more genes and thus more the amount of brown-
black melanin pigments you posses, darker your skin colour is and likewise more the number
of red-yellow pigments you posses, more the fairer you are.
Exposure to UV light will increase the production of melanin thus, UV light act as stimulants
for melanocytes which results in getting a skin tan. Thus, this shows that skin colour in humans
are also under the influence of the environment.

3. Animal hair colour


Hair develops under the germinal layer. Its colour is under the influence of melanin which
creeps into the hair strands too. In animals, coat colour differs in winter and summer seasons,
that is in the winter season the coat colour is white (since white is neither an absorber nor an
emitter of heat) while in the summer season its black (black is both a good absorber and an
emitter). This happens by a process known as moulting (falling off of hair once a year and
regrowth under environmental effects).
Tyrosine is a protein which is responsible for the production of melanin by the convertion of an
enzyme called tyrosinase. Mutations in this enzyme occur and when it does tyrosinase found in
the skin is no longer converted into melanin. This causes a condition known as albinism where
the skin colour is white due to the absence of melanin in the skin. These enzymes are also
found in the skin of animals, mostly in cats where it shows up as black/brown etc… and white
where black patches denote as the only areas where melanin is produced and present such as in
the Siamese cat and the Himalayan rabbit.

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4.

Cancers
Cancers are diseases which involves the formation of a tumor which consists of tightly packed
cells which have an uncontrollable cell cycle due to the occurance of mutations in the cell
DNA. These mutated forms of cells obtain their necessities by the normal blood supply
reaching that particular tissue so that normal tissues are deprived of necessities. This is known
as atrophy.
When the tumor increases in size, blood supply will only reach the periphery of it. Because of
this, the inner part won’t receive any blood and thus it dies. If a huge portion of the inner part
of the tumor has died it is assumed that it is more dangerous since it has a high growth rate and
will spread more quickly.
Yet there comes a time when the tumor itself cannot bear the growth and then metastasis occurs
which is the breaking away or tumor embolization. These cells then enter the blood circulatory
system and spread throughout the body.

Cell cycle controlling theory


When controlling the cell cycle there are 3 main checkpoints which occur from:

G1 S G2 M C

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These checkpoints are present to ensure that the cell will undergo cell division at normal speed.
At the G2 checkpoint if all the constituents of the cell are normal, then it receives the go-ahead
signal which will allow the cell to pass to M and afterwards to C.
If the no-go signal is received then the cell passes into a non-dividing state which is called as
G0 such as heart cells, nerve cells while some other cells such as liver cells, if one is damaged
then it releases an enzyme called kinase which stimulates another liver cell to divide by mitosis
for replacement.
These signals are found in checkpoints of the cell division are proteins which are called as
kinases and cyclins.
Kinases are present in each and every cell of the body but in some cells they are inactive (heart
cells) and in some active throughout and in some they are active at times only.
When kinases or else known as cyclins-dependent kinases (Cdk) when they combine with
cyclins only do they form the complex mitosis promoting factor (MPF) which stimulates the
cell to go into M stage from its G2 stage.
Once the cell has undergone complete nuclear division, in the anaphase stage the MPF will
separate into Cdk and cyclins. The Cdk’s will persist in the cytoplasm until the next cell
divisions while the cyclins are destroyed to prevent the formation of MPF at unnecessary
stages.
Activities of MPF;
 Replication of chromosomes
 Formation of spindle fibres
 Fragmentation of nuclear membranes
 Dispersion of nucleoli

What are carcinogens?


Carcinogens are substances that are responsible for mutations in the genetic material in
the cell which results in cancers. Carcinogens can be gamma rays, X-rays, UV rays, tobacco
smoke, drugs and even some infections such as hepatitis B etc….

Triggering factors for cancers:

1. Oncogenes- these are mutated genes responsible for the production of mutated proteins
which stimulates an increased level of MPF’s which causes rapid cell division leading to
tumors.

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2. Tumor-suppressing genes- these are genes which produce a protein which identifies
oncogenes and repair them or otherwise prevent the cell from passing to M stage from G 2
stage. If these are mutated these will no longer be able to function properly and
oncogenes aren’t destroyed.
E.g. P53

Another factor that causes cancers is inheritance. Breast cancer is a type of familial cancer. In
normal females tumor-suppressing genes for breast cancer is BRCA 1 and BRAC 2. If these
genes become mutated, their normal function is inhibited and the check points of the cell no
longer persists thus cell division keeps on continuing causing tumors.

5. Monoamine oxidase- MAO A


Usually a nerve cell transmits impulses. Electrical impulses travels along the nodes due to
electrical impulses created in the nerve cell. Mostly these travel only forward yet at some
instincts they travel backwards too. Thus this is bi-direction. But at the synapse,
neurotransmitter substances are released from the axon to reach the dendrite of the next nerve
cell. This is uni-direction cause vice versa never occurs.

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MAO A is an enzyme responsible for the breakdown of dopamine (a neuro-transmitter substance)
when it is in increased concentrations. Mutations in this enzyme can cause either increased levels of
dopamine-due to loss in the activity of the enzyme- or decreased levels of dopamine- due to increase in
the production of MAOA.

Increased levels of dopamine in the body causes high metabolic activity, such that leads to criminal
activities mostly occuring in males since they posses XY chromosomes and X is responsible for
MAOA.

Decreased levels of dopamine cause depression and low metabolic activity.

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