SEX DETERMINATION &

GENE LINKAGE
Dr Hazwanie Hashim
hazwaniehashim@imu.edu.my
(extn)

1226

Is it a Girl or a Boy?

Learning Outcomes
Sex determination
Chromosomal Sex-determining System
Sex-linked disorder
Haemophilia
Colour blindness

Dosage Compensation
X inactivation

Mechanism of Sex Determination

Common mechanism of sex
determination:
Presence of sex chromosome
Number of sets of chromosomes
e.g, male honeybees (16 chromosomes); female
(32 chromosomes)

Environment
In certain reptiles and fish, sex is controlled by the
enviromental factor - e.g, Alligator (fertilised eggs
incubated at 33 0C produce male; if incubated
below 33 0C produce female individuals.

CHROMOSOMAL SEX
DETERMINATION SYSTEM
The most common systems are:
XY system
Female are XX, males are XY

XO system (e.g, grasshoppers, bugs)

Females are XX, males are XO

XW system
Females are ZW, males are ZZ

Sex-linked genes (e.g hemophilia):

Genotype

Phenotype

XHXH

Normal female

XHXh

Carrier female

XHY

Normal male

X hY

Male sufferer

1) XY SYSTEM
Both sexes have 2 chromosomes but the
females' chromosomes are the same (XX),
the males are different (XY).
e.g, in humans, Drosophila

Female,
XX

Male, XY

2) X0 SYSTEM
The male has only 1 sex chromosome whereas
the female has 2.
Sex determination depends on the presence or
absence of X chromosome.

Male (X0)

Female
(XX)

3) XW SYSTEM
The females' gametes are different
(ZW=heterogametic), the males gametes
are the same (ZZ=homogametic sex).
e.g, birds, butterflies, some fish

Male
(ZZ)

Female
(ZW)

3) SEX-LINKED GENES SYSTEM

A gene located on a sex chromosome
is called a sex-linked gene.
X-linked white eyes
in Drosophila:
Sex-linked genes in
human follow the
same pattern of
inheritance that
Morgan observed in
Drosophila.

Sex-linked Disorders

unaffected girl
a girl who carries the defect
an unaffected boy
a boy with the disorder

Mother (carrier)

Father

X-linked (or sex-linked)

disorder inherited through a
genetic defect on an X
chromosome.
If a woman has the defect on
one of her X chromosomes
(carrier), and the father's X
chromosome is normal, there
is a 25% chances:

Sex-linked Disorders
In an X-linked recessive disorder:
Most with sex-linked disorders are male.
Son inherited through mother (carrier), because a son's X
chromosome always comes from his mother.
Son will never inherited through father because a father
passes his X chromosome only to his daughters (affected
will be carriers).
=
Carrier
=
Affected
=
Normal

http://www.genetic-genealogy.co.uk/Toc115570152.html

=
Normal

Sex-linked Disorders:
Colour Blindness in Humans
A man having the recessive
gene for the colour blindness
cant distinguish either red or
green colour.
When a woman with normal
vision (homozygous) marries a
colour blind man, all the sons
and daughters are normal, but
the daughters are carriers.
If a carrier woman marries a
man with normal vision,
all the daughters have normal
vision
half of the sons have normal vision
half of the sons are colour blind.

Color Blindness Inheritance Pattern

Sex-linked Disorders:
Haemophilia
Haemophilia is sex-linked > carried
on the X chromosome.
In haemophilia individuals the
normal process of blood clotting is
delayed or sometimes blood fails to
clot.
Blood bleeds continuously leading
to the loss of blood, causing even
death.
Females can be

A cross between a female who is

a carrier and a normal male:

normal
carriers or
have the disease.

Males can either be

normal or
have the disease
(NOT carriers because they only have a
single X chromosome)

http://www.medprorx.com/about-hemo.html

Hemophilia

www.pathguy.com/
lectures/hemophilia.jpg

www.thecrookstoncollection.com/ Collection/me

Duchene muscular
dystrophy

www.rehabinfo.net/.../ mcdonald2/ppt/Slide5.JPG
Please read up

Dosage Compensation
There are two X chromosomes in
normal human females and only one
X in normal human males.
Would this result in genetic dosage
problem such that females would
produce twice as much as all X-linked
gene products than males?

Dosage Compensation
Dosage compensation equalizes the
amount of protein produced by Xlinked genes in the two sexes.
Females mammals equalise the
expression of genes on the X
chromosome by turning off one of
their two X chromosome.
This proses is known as X
inactivation.

X-Inactivation

Murray Barr observed condensed, darkly staining bodies in

the nuclei cells from female cats that was not found in male
cats.
Dark-staining body composed of highly condensed DNA
known as Sex chromosome body or Barr body.
The Barr body is an inactivated X chromosome.

Female cell
with a Barr
body

Male cell
without Barr
body

(Part a, George Wilder/Visuals Unlimited; part b, M. Abbey/Photo

Researchers.)

X-Inactivation
Mary Lyon (Lyon hypothesis):
The inactivation of X chromosome
occurs randomly in somatic cells
early in embryonic development.
Once inactivation has occurred, all
progeny cells have the same X
chromosome inactivated.

X-Inactivation in cats
Female tortoiseshell (calico) cat has random
distribution of orange and black patches of
coat.
Black-orange coloration gene reside on the X
chromosome.
The inactivation of an X chromosome that carries
one gene results Orange
in the fur color of the other,
fur
active gene.

Black fur

X-Inactivation in cats
Female

Male

In a heterozygous
female, orange
patches are formed by
cell which the orange
Xallele
= black
fur
is active
(black
= orange fur
X
inactive) and vice
Genotype X X
XX
X
versa.
X

Such X-linked coat do

not occur in male as
they are hemizygous
for one X-linked coat
colour allele.
Thus the coat colour
Genotype
XY
XY
either
black (XY) or
orange (XOY).

+
o

Black
Orange
Tortoiseshell

Black
Orange

Other examples of Xinactivation

Mice
Female mice with heterozygous X-linked
gene for coat colour

Human Fibroblast Cells and G6PD

Protein
the red cells are mosaic with two
populations: one G6PD normal level and
the other G6PD deficient level.
Severe enzyme deficiency : extreme degree
of X inactivation of the normal chromosome.
Mild enzyme deficiency (50% activity), half
of the red cells with G6PD deficiency are
prone to haemolysis.

Quizzes

In mammals, sex is determined by:

a. Sry gene on the Y

chromosome

c.

one copy of the X

chromosome

b.two copies of X
chromosome

d. Both a and c

Quizzes

In mammals, sex is determined by:

a. Sry gene on the Y

chromosome

c.

one copy of the X

chromosome

b.two copies of X
chromosome

d. Both a and c

Quizzes

An abnormal fruit fly has two sets of

X which is XXY. Such a fly would be:
a.A male

c.A hermaphrodite

b.A female

d.None of the above

Quizzes

An abnormal fruit fly has two sets of

X which is XXY. Such a fly would be:
a.A male

c.A hermaphrodite

b.A female

d.None of the above

Quizzes

Hemophilia is:

a. Y linked disease

c.an X linked disease

b.an XY linked disease

d.None of the above

Quizzes

Hemophilia is:

a. Y linked disease

c.an X linked disease

b.an XY linked disease

d.None of the above

Quizzes

The most common inherited disease

is:
a. cystic fibrosis

c. hemophilia

b. sickle cell anemia

d.All of the above

Quizzes

The most common inherited disease

is:
a. cystic fibrosis

c. hemophilia

b. sickle cell anemia

d.All of the above