Sex linked inheritance

Mustansiriyah University
College of Science/ Department of Biology
Course: Genetics
Lecture: 4
• SEX LINKED GENES
• SEX-LIMITED GENES
• SEX-INFLUENCED GENES
• Characters for which genes are located on sex on
X chromosomes are known as sex linked traits.
• Genes controlling these traits are called sex linked
genes.
• The genes which occur exclusively on the X chromosome
(mammals, Drosophila, Melandrium, etc.) or on the
analogous Z chromosome (in birds and other species with
ZO or ZW mechanism of sex determination) are called
X- or Z -linked genes.
• Most genes for sex link traits are present only on the X
chromosome. The Y-chromosome is smaller (Very few
genes are located on Y chromosome).
• Because of their location in the sex chromosomes, they
are said to be “sex linked traits”
• The genes which exclusively occur in Y chromosome are
called holandric genes.
• The inheritance of X- or Z-linked and holandric genes is
called sex-linked inheritance
sex-linked genes can be classified into
following three types
• X-linked. is performed by those genes which are
localized in the nonhomologous sections of X-
chromosome, and that have no corresponding allele in
Y chromosome. The X-linked genes are commonly
known as sex-linked genes.
• Y-linked. is performed by those genes which are
localized in the non-homologous section of Y
chromosome, and that have no alleles in X-
chromosome. (Holandric genes )
• XY-linked. is performed by those genes which are
localized in homologous sections of X and Y
chromosomes
 Characteristics of Sex-linked
Inheritance
a. The pattern of inheritance of sex linked trait is criss-cross. It is the
transmission of a gene from mother to son or father to daughter. Those
patterns of inheritance are called crisscross inheritance or skip generation
inheritance, in which a character is inherited to the second generation
through the carrier of first generation. The father cannot pass a sex linked
allele to a son directly.
b. The mother can pass the allele of a trait to both daughter and son.

c. Only homozygous females can express a recessive trait, while heterozygous

female are carriers and do not express the trait.

d. Males express the trait immediately because of the absence of a

corresponding allele. This is the reason why males suffer from sex linked
disorders more than females.

e. Most of the sex linked traits are recessive. Some examples of sex linked traits
include Haemophilia or Bleeder’s disease, Daltinism or Colour blindness
 X-Linked X-Linked X-Linked
dominant recessive inheritance

Sex linked genes show the dominance recessive relationship only

in homogametic sex (e.g. female in humans) because it can
carry two alleles at the sex linked locus. So, female can be
homozygous or heterozygous.
• In the heterogametic sex (males in humans and females in
birds) do not show dominance recessive relationship because
the existence of only a single X or Z chromosome.
• The term hemizygous is used for X linked gene in males
as they carry only one allele with regard to sex linked trait
(In birds the female is hemizygous).
 Dominant X-linked genes
can be detected in human pedigrees (also in Drosophila) through
the following clues :
It is more frequently found in the female than in the male of the
species.
 The affected males pass the condition on to all of their daughters
but to none of their sons
Females usually pass the condition (defective phenotype) on to
one-half of their sons and daughters
 X-linked dominant gene fails to be transmitted to any son from a
mother which did not exhibit the trait itself.
 X aX a XAY

XA Xa x ay

 Pedigree chart showing how X-linked dominants are expressed in all the
daughters of affected males

A a
x X aY

XAXa X aX a XAY X aY

 Pedigree chart showing that females effected by an X-Linked dominant

condition usually heterozygous and pass the condition to one- half of
their progeny
• In humans, X-linked dominant conditions are
relatively rare. example is
• hypophosphatemia (XLH) - vitamin D-resistant
rickets).
• hereditary enamel hypoplasia (hypoplastic
amelogenesis imperfecta), in which tooth enamel
is abnormally thin so that teeth appear small and
wear rapidly down to the gums
 The X-linked recessive genes
• it show the following two more peculiar features
:criss-cross pattern of inheritance (i.e., in criss-cross
inheritance, a X-linked recessive gene is transmitted
from P1male parent (father) to F2 male progeny
(grandsons) through its F1 heterozygous females
(daughters), which are called carriers) and different
F1 and F2 results (ratios) in the reciprocal crosses.
• The X-linked recessives can be detected in human
pedigrees (also in Drosophila) through the
following:-
i) The X-linked recessive phenotype is usually found more
frequently in the male than in the female.??This is because
an affected female can result only when both mother and
father bear the X-linked recessive allele (XAXa × XaY),
whereas an affected male can result when only the mother
carries the gene. Further, if the recessive X-linked gene is
very rare, almost all observed cases will occur in males.
(ii) Usually none of the offspring of an affected male will be
affected, but all his daughters will carry the gene in
masked heterozygous condition, so one half of their sons
(i.e., grandsons of F1 father) will be affected
(iii) None of the sons of an affected male will inherit the X-
linked recessive gene, so not only will they be free of the
defective phenotype; but they will not pass the gene along
to their offspring
XA XA XaY

XA Y XA Xa XA Y
1 2

X aY XAY XAXa XA XA

Fig. Pedigree showing how X-linked recessive genes are expressed in males, then
carried unexpressed by females in the next generation, to be expressed in their
sons. II.3 and III.4 heterozygous or carrier females are not distinguished
phenotypically
 Example of Inheritance of X-Linked Recessive Genes

The crisscross inheritance of recessive X- linked genes can be well

understood by following classical examples in Drosophila, man,
moth and chikens etc.:
1. Inheritance of X-Linked Gene for Eye Colour in Drosophila
In Drosophila, the gene for white eye color is X-linked and recessive
to another X-linked ,dominant gene for red-eye color. It is
discovered by Morgan in 1910.
Following crosses between white eyed and red eyed Drosophila will
make clear the characteristic criss-cross inheritance of gene for
white eyed color in it :
(a) Red eyed female × White eyed male If a wild red eyed female
Drosophila is crossed with a mutant white eyed male Drosophila, all the F1
individuals irrespective of their sex have red eyes
P XRXR X XrY
F1 XRX r , XRY
Red eyed female , Red eyed male

•When the red eyed male and red eyed female individuals of F1 are intercrossed,
XRXr X XRY

XRXR, XRY , XRXr , X rY

Red eyed female, red eyed male, Red eyed female, white eyed male
3 red : 1white eyed
•the F2 progeny is found to include an exclusively red eyed female population and a
male population with 50 per cent red eyed individuals and 50 per cent white eyed
individuals. Thus, F2 generation includes red eyed and white eyed individuals in the
ratio of 3: 1.
(b) White eyed female × Red eyed male. When a white eyed female
Drosophila is crossed with a red eyed male Drosophila, all the female individuals in the F1
generation are red eyed
X rX r x XRY
XRXr , X rY
Red eyed female , white eyed male

•When these red eyed female individuals and white eyed male individuals of F1 are
intercrossed,
XRXr x X rY
XRXr , XRY, XrXr, X rY
Red eyed female , Red eyed male , white eyed female , white eyed male
•the female population of F2 generation is found to include 50 per cent red eyed and 50
per cent white eyed flies. Similarly, the male population of F2 includes 50 per cent, red
eyed and 50 per cent white eyed flies.
The results of these experiments, thus, are clearly indicating that the trait located on a
sex chromosome alternates the sex from one generation to the next generation, i.e, the
trait of white eyes transfers from P1 father to F1 daughter and from F1 daughter to F2
son.
Inheritance of X-Linked Recessive Genes in Humans

In human beings more than 150 confirmed or highly probable X-

linked traits are known; most of these are recessives. Certain
well known examples
red- green colour blindness or daltonism,
 haemophilia
 Duchenne’s muscular dystrophy.
 G6PD deficiency - deficiency of enzyme glucose-6 phosphate
dehydrogenase ,in erythrocytes causing haemolytic anaemia
during allergy reaction of persons for the drugs such as
sulphonamides or for the broad bean (Vicia faba), called favism;
 night blindness
 white frontal patch of hair.
 Colour blindness
a dominant X- linked gene is necessary for the formation of the colour sensitive
cells, the cones, in the retina of eye. According to trichromatic theory of colour
vision, there are three different types of cones, each with its characteristic pigment
that react most strongly to red, green and violet light. The recessive form of this
gene (i.e., presence of recessive X-linked allele for colour blindness) is incapable of
producing the colour sensitive cones and the homozygous recessive females (Xc Xc)
and hemizygous recessive males (Xc Y) are unable to distinguish between these two
colours.
•The frequency of colour blind women is much less than colour blind man?
(i) Marriage between colour-blind man and normal vision woman.
When colour-blind man marries with a normal vision woman, then they will
produce normal vision male and female individuals in F1. The marriage
between a F1 normal vision woman and normal vision male will produce in F2
two normal vision female, one normal vision male and one colour-blind male
 Normal female Colour-blind male

Parent : X + X+ X Xc Y
Gametes : (X+) (Xc) (Y)
F1: ½ X+Xc : ½ X+Y
(ii) Marriage between a carrier female and a normal male produces the
carrier female x Normal male
P2 X+Xc X+Y
G2 X+, XC X+, Y
F2 X+X+, X+Y, X+XC, XCY
Normal female Normal male carrier female Colour-blind male
 Hemophilia
is the most serious and notorious disease which is more common in men than women.
This is also known as bleeder’s disease. The person which contains the recessive gene for
hemophilia lacks in normal clotting substance (thromboplastin) in blood so minor injuries
cause continuous bleeding and ultimate death of the person due to hemorrhages. This
hereditary disease was reported by John Cotto of Philadelphia in 1803 in man.
(a) Hemophilia A. It is characterized by lack of anti hemophilic globulin (Factor VIII).
About four fifths of the cases of hemophilic are of this type.
(b) Hemophilia B. It is also called “christmas disease” after the family in which it was first
described in detail. Hemophilia B results from a defect in plasma thromboplastic
component (factor IX). This is milder form of hemophilia.
Parents : X+Xh × X+Y
Normal mother(carrier) Normal father
Gametes: (X+) (Xh) (X+) (Y)
Progeny : X+X+ , X+Xh , X+Y , XhY
Normal daughter, Normal (carrier), Normal , Hemophilic
B. INHERITANCE OF Y-LINKED GENES
Genes in the non-homologous region of the Y chromosome pass
directly from male to male.
In man, the Y-linked or holandric genes are transmitted directly
from father to son Having hairy ears was once thought to be a Y-
linked trait in humans, but that hypothesis has been discredited.
It has often been said that little is known about genes that may
be Y-linked. This is no longer true. As of the year 2012, about
three dozen genes were known to be Y-linked including:
ASMTY (which stands for acetyl serotonin methyltransferase)
TSPY (testis-specific protein)
Y-Chromosome deletions are a frequent genetic cause of male
infertility. In some males a small deletion in the DAZ gene
(deleted in azoosprmia) on the Y chromosome cause azoospermia
•SEX-INFLUENCED GENES
are autosomal genes those whose dominance is influenced by the sex of the
bearer. Thus, male and female individuals may be similar for a particular trait but
give different phenotypic expressions of the same trait..
Example :
1- In man the baldness may occur due to disease, radiation or thyroid defects
but in some families balldness is found to be inherited trait. In such inherited
baldness the hairs gradually become thin on head top, leaving ultimately a fringe
of hair low on the head and commonly known as pattern baldness. The gene B
for baldness is found to be dominant in males and recessive in females. In
heterozygous condition it expresses itself only in the presence of male hormones
(in male sex):
Genotype Phenotypes

Men women
BB Bald Bald
Bb Bald Non-bald
bb Non- Non-bald
bald

2- In sheep, the genes for the development of horns is dominant in males and
recessive in female.
SEX-LIMITED GENES
Sex-limited genes are autosomal genes whose phenotypic expression is
determined by the presence or absence of one of the sex hormones. Their
phenotypic effect is limited to one sex or other. In other words, the penetrance
of a sex-limited gene in one sex remain zero.
Sex-limited genes are responsible for sexual dimorphism, which is a phenotypic
(directly observable) difference between males and females of the same species.
These differences can be reflected in size, color, behavior ,Example
1. The bulls have genes for milk production which they transmit to their
daughters, but they or their sons are unable to express this trait. The production
of milk is, therefore, limited to variable expression only in the female sex.
2. Beard development in human beings is a sex limited trait as men normally
have beards, whereas women normally do not. Likewise, the genes for male
voice, body hair and physique are autosomal in human beings, but they are
expressed only in the presence of androgens which are absent in females.
3. In chicken the recessive gene (h) for cock feathering is male sex-limited (i.e., it
is penetrant only in male environment)
Genoty Phenotypes
pe male female
HH Hen Hen-feathering
feathering

Hh Hen feathering Hen-feathering

hh Cock Hen-feathering
feathering