10.

SEX DETERMINATION AND SEX LINKAGE

10.1 Introduction

Sexual differentiation of a species into separate male and female forms is usually genetically
determined. The inheritance of sex can be interpreted in Mendelian terms as a monohybrid test
cross. Mating between males and females always results in two sexes among the offspring in
approximately equal numbers. Sex chromosomes are those that carry the sex-determining genes.
All the other chromosomes which are not involved in sex determination are known as autosomal
chromosomes or autosomes.

In Humans and many other animals sex is determined by the presence of different sets of sex
chromosomes. Women have two X-chromosomes while men have one and one Y- chromosome.
In most animal species, the Y-chromosome only contains the genes responsible for the
development of the male organs producing the male gametes, the testes. The Y-chromosome is
therefore considered to be genetically empty. In these cases, the Y- chromosome is also
physically much smaller than the X-chromosome. The above situation means that gene located
on the X-chromosome (also called sex-linked genes) are present with only one allele in the male
individual, because the male has only one X-chromosome. In females the sex-linked genes are
present with two alleles (one allele on each X-chromosome), like happens with all genes located
in autosomal chromosomes. As a consequence, recessive, sex-linked diseases caused by
recessive alleles occur more frequently in males than females.

10.2 Objectives
1. State the chromosomes involved in sex determination.
2. Differentiate between the X and Y chromosomes.
3. Define sex-linked, sex-influenced and sex limited genes
4. Explain the hormonal effects on sex expression.
5. Explain sex-linked inheritance of feather colour in birds.
6. Discuss sex-linked diseases in humans.
10.3 Inheritance of sex in animals
In human and many other animals, sex is determined by the presence of different sets of sex
chromosomes designated X and Y. Females have two X chromosomes; males have an X and a Y
chromosome. In most species, the Y chromosome only contains the genes responsible for the
development of the male organs producing the male gametes, the testes. It is therefore considered
to be genetically empty. In most cases the Y chromosome is physically smaller than the X
chromosome. The female is therefore homogametic (XX) producing eggs carrying a single X
while the male is heterogametic (XY) with half the gametes carrying the X chromosome and the
other half carrying the Y chromosome.

In the XX/XY system therefore, the sex of the offspring is determined by the male parent.

Figure 10.1 Inheritance of sex in animals

10.4 Sex (X-chromosome) linked inheritance

Sex chromosomes also carry genes which are not directly involved with the determination of sex.
These so-called sex-linked genes are carried on the X chromosome and are present with only one
allele in the male sex. In females the sex-linked genes are present with two alleles (one on each
X-chromosome) like what happens with all genes located on autosomes. As a result, recessive,
sex-linked alleles will always be expressed in the male’s phenotype, because he will never have
the dominant counterpart to mask its effect. That is the reason why sex-linked diseases caused by
a recessive allele occur more frequently in men than in women.

In the XX/XY system, there are genes in the differential part of the X chromosome which have
no allelic partners in the Y and vice versa. These are the sex-linked genes.

Figure 10.2 The X and Y chromosomes. Source: Jones and Karp. 1994. Introducing Genetics.
Page 98.

Examples of sex-linked genes include those for (i) haemophilia in humans and (ii) colour
blindness in humans

Two indications of sex-linkage:

(1) When a recessive allele appears more frequently in males than in females in a pedigree.

(2) When a reciprocal cross yield a different phenotypic ratio.

10.5 Haemophilia in humans

Although Queen Victoria was phenotypically normal, she carried the allele for haemophilia
which she passes on to her children of which only her sons could be haemophiliac.

10.6 Colour blindness in humans

Colour blindness is the inability to distinguish between green and red. This condition results
from a recessive allele c of gene C carried on the X chromosome. This condition is more
frequent in males than females for obvious reasons.
The inheritance of colour blindness can be illustrated as given below:

Figure 10.4 Inheritance of colour blindness. Source: Jones and Karp. 1994. Introducing
Genetics. Page 103.

10.7 Feather colour in birds

In birds, the male is heterogametic while the female is homogametic. The same principle of
inheritance applies as the one for sex linkage in humans but the pattern of inheritance is reversed
in the sexes.

In one example, Light Sussex chickens have mostly white plumage and the Rhode Island Red
breed have mostly red. The allele R for white feathers is dominant to the allele r for red feathers.
A cross between Rhode Island cockerels and Light Sussex hens produces white male offspring
and red female offspring as shown below:
Figure 10.5 Inheritance of feather colour in birds. Source: Jones and Karp. 1994. Introducing
Genetics. Page 105.

10.8 Holandric genes or Y-linked genes

These are genes located on the Y-chromosome whose effects only pass to male offspring from
their father e.g. the pattern baldness allele and the hairy ear (hypertrichosis) allele.

10. 9 Hormonal effects on sex expression

The gender of an animal can also influence or limit the effects or expression of certain sex-
influenced genes. These genes are not necessarily located on the X chromosome, most of the
times they are even on the autosomes. The cause of these gender-mediated differences in gene
expression is the difference in level of male and female sex hormones between genders.
10.10 Sex-influenced (sex-affiliated) genes

When the same genotype leads to different phenotypes in male and female, the gene involved is
said to be sex-influenced (sex-affiliated). For example, the allele responsible for pattern
baldness (androgenetic alopecia) in humans is expressed more frequently in males than in
females. The allele responsible is dominant in males and recessive in females.

Table 10.1. Inheritance of pattern baldness. Source:

Genotype Male Female

The allele B in both the homozygous and heterozygous states exerts its dominance only in the
male sex while in the female only the homozygous BB exerts dominance.

10.11 Sex-limited genes

Usually sex-limited characters are expressed only in one sex even though both sexes may carry
genes for such characters. The expression of these genes is determined by the presence or
absence of sex hormones e.g. beards in man and milk production in females. Both men and
women possess the genes for producing milk, but only in men these genes are never expressed.
Sex-limited genes may be carried on autosomes and are strongly affected by the level and types
of sex hormones present in the body.

10.12 Revision exercise

1. The gene for eye-colour in the fruit fly, Drosophila comes in many different alleles
(e.g. white, orange, ruby, pink, and red). The gene is present on the X-chromosome but not on
the Y-chromosome. Sex determination in Drosophila is the same as in man.
(a) Work out how many allele of this gene one male individual
(b) Work out how many allele of this gene one female individual
2. State whether or not a human male possess genes for producing baby milk
3. A narrow reduced eye called “bar” is a dominant sex-linked condition in Drosophila
due to the allele B. Normal eyes are produced by the recessive allele b.
(a) A homozygous female with normal eyes is mated with a bar-eyed male. Predict the
genotypic and phenotypic ratios of this cross, including the sex.
(b) Predict the genotypic and phenotypic ratios of the reciprocal cross, including the sex.
4. A sex-linked recessive allele c produces a red-green colour blindness in humans. A normal
woman whose father was colour blind marries a colour blind man.
(a) Predict the genotypes that are possible for the mother of the colour blind man
(b) Work out the chances that the first child from this marriage will be a colour blind boy
(c) Of the girls produced by this couple, predict the proportion that can be expected to
have normal vision.
5. The sex-influenced allele governing the presence of horns in sheep is dominant in males, but
recessive in females. Its counterpart, the allele for being hornless is recessive in males and
dominant in females. Let “H” represent the allele for having horns and let “N” represent the
allele for being hornless. A monohybrid cross is executed.
(a) State the phenotype of the male and of the female
(b) Predict the genotypic and phenotypic ratios for a monohybrid cross.
6. In humans, the autosomally linked allele A is required for normal skin pigmentation.
Its recessive allele a is associated with the albino condition. Several pairs of alleles
affect colour vision. One of the X-linked recessives responsible for red-green colour
blindness may be represented as p. Its dominant allele P is required for normal colour
vision. Write as much as possible of the genotypes of the following three persons:
(a) A woman with normal vision and normal skin pigmentation whose father is a colour-
blind albino.
(b) A normally pigmented man whose mother is colour blind and whose father is albino.
(c) A man with normal vision and normal skin pigmentation whose father is a colour-
blind albino.

10.13 Summary

In animals, the sex of the individual is determined by the X and Y chromosomes. XX individuals
are homogametic and are usually female while XY individuals are hetrogametic and are usually
male. In addition to the chromosomes, hormones also have an influence on the expression of
certain sexal characteristics. There are a number of human genetic diseases which are linked to
the sex of the affected person.