Sex Determination and Sex Chromosomes: Types of Sexually Reproducing Organisms

Fundamental Genetics
Lecture 5
Sex Determination and

Sex Chromosomes
John Donnie A. Ramos, Ph.D.

Dept. of Biological Sciences
College of Science
University of Santo Tomas
Types of Sexually
Reproducing Organisms
Monoecious organisms
produces two types of gametes in 1 organism (sperm cells
and egg cells)
Bisexual / hermaprhroditic
Dioecious organisms
Produces only 1 type of gamete in 1 organism (either
sperm cells or egg cells)
Unisexual / gonochoric
Organism is either male or female
Intersex - intermediate sexual differentiation (often sterile)
“Genetics is concerned with the differences of

dioecious organisms and how is the
mechanism of inheritance of these two types.”
1
Life Cycle of Clamydomonas
Green alga
Infrequent sexual
reproduction
Isogamous organisms
Primitive means of sexual
differentiation
Life Cycle of Zea mays
Monoecious plant
Alternating gametophyte and sporophyte stages
2
Life Cycle of C. elegans
Hermaphroditic nematode
Two sexual phenotypes
Male – with testes
Hermaphrodites –
testes and ovaries
Genetic signal for
maleness is determined by
X chromosome anf
autosomes
No Y chromosome
Hermaphrodites = XX
Male = X
Ratio of X chrom to
autosomes determines sex
of the individual
1.0 = hermaphrodites
0.5 = males
X and Y Chromosomes
XX-XO system XX-XY system

Male is heterogametic sex while female is homogametic sex
Birds, some reptiles, moths, butterflies, some fishes and
amphibinas = ZZ/ZW system where ZZ=male while ZW=females
(male is homogametic while female is heterogametic)
3
Sex Determination in Humans
Spermatogenesis Oogenesis
44+XY 44+XX
Spermatogonium Oogonium
44+XY 44+XX
Primary Spermatocyte Primary Oocyte
22+X 22+Y 22+X 22+X

Secondary Spermatocyte Secondary Oocyte 1st polar body
22+X 22+X 22+Y 22+Y 22+X 22+X 22+X 22+X

Spermatozoa Ovum 2nd Polar Bodies
1/4 1/4 1/4 1/4 100 %
2/4 or ½ or 50% 2/4 or ½ or 50%
Fertilization
During fertilization, an egg (X-bearing) has an equal chance
of being fertilized by an X-bearing sperm or a Y-bearing
sperm.
Sperm Egg Sperm Egg
22+X 22+X 22+Y 22+X
50% or 0.5 100% or 1.0 50% or 0.5 100% or 1.0
Zygote Zygote
44+XX 44+XY
0.5 or 50% 0.5 or 50%

(0.5)(1.0)= 0.5 (0.5)(1.0)= 0.5
50-50% of producing a male or female offpring
4
Sex Ratio in Humans
Primary Sex Ratio (proportion of males and females conceived in a
population)
Secondary Sex Ratio (proportion of each sex that is born)
Why birth rate of male is higher than female? (US survey on birth rate:
Male=0.52 while females=0.48)
Y bearing sperm is more motile (?)
XY fetus has higher viability than XX fetus
Why more females in than males in actual populations? (ranges from 1:2
to 1:5)
Males have higher mortality rate than females
Implication of equal chances of producing male or female

offspring:
Can predict the number of males and females in a family through
binomial distribution (m+f)n where n is the number of children.
Sex Chromosomes in Humans

X chromosome
Submetacentric
Size between 7-8 groups
Approximately 5.0-5.5 µm
in length
With satellites
Y chromosome
Acroncentric
Slightly longer than group
G chromosomes
2 µm in length
Has no satellites
5
Sex Differentiation in Humans
Genetic Sex
Males = XY while females = XX
Gonodal Sex (5th week)
XY embryo will produce testes (medulla) while XX embryo will produce
ovary (cortex)
If the cell contains XY sex chromosomes, it will develop testes at 7th
week it not ovary develops)
Oogonia develops at 12th week, and by 25th week all primary oocytes
have been produced and arrested at GO (remain dormant until
puberty
Prior to this stage, embryo is hermaphroditic
Genital Sex
Secondary sex organs (external genitalia) and hormones
Somatic Sex
Production of secondary sex characters (effect of hormones)
Nuclear Sex
Males – Barr body negative
Females – Barr body positive
Sociophysiological sex
Influence of culture
Sex Chromosome Abnormalities

Klinefelter Syndrome
2n=47 (XXY sex chromosomes)
Occurs in 2 every 1000 male
births
Male genitalia and ducts
Rudimentary testes (fail to
produce sperm) = sterile
Tall and long arms and legs
Large hands and feet
Slight enlargement of breast
(gynecomastia)
Rounded hips
Below normal IQ
Other forms: 48, XXXY; 48,XXYY;
49XXXXY; 49XXXYY
6
Turner Syndrome
2n=45 (X sex chromosome)
Occurs in 1 every 2000
female births
Most die in utero
Female external genitalia
Rudimentary ovary (sterile)
Short stature, stocky,
(usually under 5 ft)
Webbing neck (Skin flaps on
the back of neck)
Flat chested
(Underdeveloped breasts)
Broad, shieldlike chest
Low IQ
Metafemale, Poly X females

2n=47 (XXX)
Genetically female
Occurs in 1 every 1200 female births
Some are perfectly normal
Other cases, undeveloped secondary sexual
characteristics leading sterility
Mental retardation
Rare cases: 48 (XXXX); 49 (XXXXX)
7
Jacobs Syndrome (Criminal Syndrome)
2n=47 (XYY)
Phenotypically male
First studied by Patricia Jacobs (1965)
9 out of 315 males in the Scottish maximum security prison
Significantly above average in height (above 6 ft)
Antisocial (nonviolent) behaviors, personality disorders
High percentage have higher IQ (7/9)

Hermaphroditism
Individuals with both testicular and ovarian tissues
Ambigous external genitalia
Often musculinized
Generally sterile (underdeveloped organs)
Variable cases: (US study of 100 cases)
59 XX
21 XY
28 mosaics (XXY, XXX, etc.)
8
Other Causes of Sexual Abnormalities
Attached X flies
Observed in fruit flies only
2 X chromosomes are physically attached (inability to
segregate during anaphase)
Will result to metafemales
Polyploidy
More than 2 sets of chromosomes
Transformer genes
Autosomal genes that affect the sex of the individual
Identified in Drosophila
Gynandromorphs
Condition wherein ½ of the organism is male and the other
half is female
Male part contains XY chromosomes while female parts
contain XX chromosomes
The Y Chromosome in Humans

Contains Psuedoautosomal Regions (PAR) on
both ends
Share DNA sequence homology with X
chromosome (making them pair during meiosis)
5 Nonrecombining region of the Y (NRY) –
remainder of the chromosome
Mainly Heterochromatic (devoid of structural
genes)
7 genes without homology to other chromosomes
Contains genes coding for Testes-Determining
Factor (TFD)-proteins responsible for
differentiatiation of gonodal tissue to become
testes
SRY gene (sex-determining region Y)-studied
using transgenic mice
Abnormal cases:
Males without Y (XX) but contains SRY gene
on one of the X
Females with Y chromosomes but absence of
SRY gene
9
Dosage Compensation for X
Chromosomes in Females
Females can produce twice gene products for genes located in the X
chromosomes (could lead to abnormalities)
Dosage compensation = mechanism employed to prevent over-
expression
Barr Bodies (Chromatin Bodies)
Inactivated X chromosome on the periphery of the nucleus
Follows N-1 rule where N is the number of X chromosomes
Dosage Compensation for X

Chromosomes in Females
If only 1 X chromosome is active, why are abnormalities
observed?
X chromosome does not occur in early development of
embryo (before sex differentiation)
Not all Barr bodies are inactivated
The Lyon Hypothesis

Inactivation of X chromosomes occur randomly in somatic
cells
Once inactivated, all daughter cells exhibit inactivated X
chromosomes
Controlled by a gene called X-inactivation Center (XIC)
10
Sex Determination In Drosophila
Follows XY-XX system
2n=8 (6 autosomes and XY or XX sex
chromosomes)
First studies by Calvin Bridges (1916)
Y chromosome does not determine sexes
(unlike in humans)
Ratio of X chromosome and the autosomes
determines sex in Drosophila
Based on initial findings that XXY flies are
females while XO flies are males but are
sterile.
Studied triploid females (3n) = result of
fertilization of diploid (2n) egg and haploid
(n) sperm
Sex Determination In Drosophila

Ratio of number of X chromosomes and
number of sets of chromosomes
present determines the sex
Ratio of 1 = Female (fertile)
Ratio above 1 = metafemale (sterile)
Ratio between 0.5 to 1.0 = Intersex
(invariably sterile, exhibit both male anf
female morphology)
Ratio of 0.5 = Male (fertile)
Ratio below 0.5 = Metamale (sterile)
Determined by Genetic Balance Theory
Genes involved:
Tra gene –transformer (autosomal
gene)
Sxl gene – sex lethal gene
Dxl gene – double sex gene
11
Sex Determination In Reptiles
Follows ZZ/ZW system where ZZ are males and ZW are females
Sex determination is affected by temperature (incubation
temperature of egg)
Varies with different species
Three observed patterns:
Low T=males Low T=females Low & high T = females

High T = females High T = males Intermediate T = males
Tp = pivotal temperature; FT = female-determining temperature;

MT= male-determining temperature
Tp is narrow (1-5°C)
Hormones are mainly affected (androgens and estrogens)
Aromatase=converts androgens to estrogens
12

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Fundamental Genetics

Sex Determination and

John Donnie A. Ramos, Ph.D.

“Genetics is concerned with the differences of

Life Cycle of Zea mays

XX-XO system XX-XY system

22+X 22+Y 22+X 22+X

22+X 22+X 22+Y 22+Y 22+X 22+X 22+X 22+X

2/4 or ½ or 50% 2/4 or ½ or 50%

50% or 0.5 100% or 1.0 50% or 0.5 100% or 1.0

0.5 or 50% 0.5 or 50%

50-50% of producing a male or female offpring

 Implication of equal chances of producing male or female

Sex Chromosomes in Humans

Sex Chromosome Abnormalities

Sex Chromosome Abnormalities

 Metafemale, Poly X females

Sex Chromosome Abnormalities

The Y Chromosome in Humans

Dosage Compensation for X

 The Lyon Hypothesis

Sex Determination In Drosophila

Low T=males Low T=females Low & high T = females

 Tp = pivotal temperature; FT = female-determining temperature;

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Implication of equal chances of producing male or female

Metafemale, Poly X females

The Lyon Hypothesis

Tp = pivotal temperature; FT = female-determining temperature;