17.

9
Sex is determined by X and
Y chromosome
OBJECTIVES
To understand how sex
is determined and
inherited in humans

To know that some

genes are sex linked

To understand the
pattern of inheritance of
sex-linked genes
 Introduction
• If you’re a human being, which
you're probably not, most of
your chromosomes come
in homologous pairs. The two
chromosomes of a homologous
pair contain the same basic
information – that is, the same
genes in the same order – but
may carry different versions of
those genes.
• When all the chromosomes are
arranged in pairs, there may be
2 left over which differ in size
and do not form a homologous
pair. These are the sex
chromosomes.
Karyotype: a photograph of human chromosomes arranged in pairs.

The 23rd pair is an X and a Y chromosome- this cell comes from male.

Instead of an X and a Y, a human female has two X chromosomes.

Because sex chromosomes don’t always come in homologous pairs, the

genes they carry show unique, distinctive patterns of inheritance.
• Each species has its own characteristic number of
chromosomes. Humans, for instance, have 46
chromosomes in a typical body cell (somatic cell)
• Like many species of animals and plants, humans
are diploid (2n), meaning that most of their
chromosomes come in matched sets known
as homologous pairs. The 46 chromosomes of a human
cell are organized into 23 pairs, and the two members of
each pair are said to be homologues of one another
(with the slight exception of the X and Y chromosomes).
• Human sperm and eggs, which have only one
homologous chromosome from each pair, are said to
be haploid (1n). When a sperm and egg fuse, their
genetic material combines to form one complete, diploid
set of chromosomes. So, for each homologous pair of
chromosomes in your genome, one of the homologues
comes from your mom and the other from your dad.
Sex • Human X and Y chromosomes determine the
biological sex of a person, with XX specifying
chromosomes female and XY specifying male. Although the Y
chromosome contains a small region of similarity
in humans to the X chromosome so that they can pair during
meiosis, the Y chromosome is much shorter and
contains many fewer genes.
The human Y chromosome
plays a key role in
determining the sex of a
developing embryo. This is
mostly due to a gene
called SRY (“sex-
determining region of
Y”).

SRY is found on the Y

chromosome and encodes a
protein that turns on other
genes required for male
development.

-XX embryos don't

have SRY, so they develop
as female.
-XY embryos do have SRY,
so they develop as male.
• The sex chromosomes carry genes
concerned with sexual development, such as
development of the sex organs and position
of fat stores.
• The sex chromosomes also carry a few genes
that code for characteristics that are not
concerned with sex. Since these genes are
carried on the sex chromosomes, they
may show their characteristics only in one
sex.
• For example, the gene for colour blindness is
carried on the X chromosome. We say that
colour blindness is sex linked.
 • When a gene is present on the X
chromosome, but not on the Y
chromosome, it is said to be X-linked.
X-linked genes have different
Sex-linked or inheritance patterns than genes on
non-sex chromosomes (autosomes).
X-linked That's because these genes are present
in different copy numbers in males and
females.

(Refer to diagram)
The inheritance of
sex-linked
characteristics

• Red-green colour
blindness
• Person cannot tell the
difference between red
and green
• Is an X-linked condition
 • A recessive condition in which a person's blood
does not clot properly.
• A person with hemophilia may have severe, even
life-threatening, bleeding from just a small cut.
• Hemophilia is caused by a mutation in either of two
genes, both of which are located on the X
chromosome. Both genes encode proteins that help
blood clot.
Hemophilia • A woman who is heterozygous for normal and
hemophilia alleles (XHXh) has children with a man
who is homozygous for the normal form (XHY) Both
parents have normal blood clotting, but the mother
is a carrier. What is the chance of their sons and
daughters having hemophilia?
• Since the mother is a carrier, she will pass on
the hemophilia allele (XℎXh) on to half of her
children, both boys and girls.
• None of the daughters will have hemophilia
(zero chance of the disorder). That's because,
in order to have the disorder, they must get
a XℎXh allele from both their mother and their
father. There is zero chance of the daughters
getting an XℎXh allele from their father, so
their overall chance of having hemophilia is
zero.
• The sons get a Y from their father instead of an
X, so their only copy of the blood clotting gene
comes from their mother. The mother is
heterozygous, so half of the sons, on average,
will get an XℎXh allele and have hemophilia
(half chance of the disorder).
 Question...
Which of the following pairs of parents is most likely to produce a
daughter with hemophilia?
Choose 1 answer:
1) A hemophiliac mother and an unaffected father
2) A carrier mother and an unaffected father
3) A carrier mother and a hemophiliac father
4) An unaffected, non-carrier mother and a hemophiliac father
• Because hemophilia is a recessive disorder, a woman must receive two disease alleles (one on each
X chromosome) to display the disease. She must get a disease allele from both her mother and
her father
• .
• Since hemophilia is an X-linked disorder, males are hemizygous for the hemophilia-related gene
(have only one allele and display the phenotype associated with that allele). In order to have a
hemophilia allele that can be passed on to offspring, a male must himself be hemophiliac. Pairs
of parents in which the male is not hemophiliac cannot produce a hemophiliac daughter.

• Women who are either homozygous for the hemophilia allele (hemophiliac) or heterozygous for
the hemophilia allele (unaffected carriers) may pass on a hemophilia allele to their offspring. Pairs
of parents in which the female is neither hemophiliac nor a carrier cannot produce a hemophiliac
daughter.

• Of the pairs above, a carrier mother and a hemophiliac father are the most likely to have a
hemophiliac daughter.
 T. H. Morgan: Fun
with fruit flies
• Morgan's crucial, chromosome theory-
verifying experiments began when he
found a mutation in a gene affecting fly
eye color. This mutation made a fly's
eyes white, rather than their normal
red.
• Unexpectedly, Morgan found that the
eye color gene was inherited in
different patterns by male and female
flies. Male flies have an X and a Y
chromosome (XY), while female flies
have two X chromosomes (XX). It
didn't take Morgan long to realize that
the eye color gene was being inherited
in the same pattern as the X
chromosome.
A "sex limited"
inheritance pattern
• What made Morgan think that the eye
color gene was on the X chromosome?
The first white-eyed fly he found was
male, and when this fly was crossed
with normal, red-eyed female flies,
the F1 offspring were all red-eyed—
telling Morgan that the white allele was
recessive.
• But when the F1 flies were crossed to
each other, something strange
happened: all of the female F2 flies
were red-eyed, while about half of the
male F2 flies were white-eyed. Clearly,
the male and female flies were
inheriting the trait in different patterns.
In fact, they were inheriting it in the
same pattern as a particular
chromosome, the X.
The predictions match the F1 phenotypes, but this set of phenotypes could also be
explained by a gene that is not on the X chromosome, since all the flies were red-
eyed (regardless of sex). So, when the flies are mated to make the F2 generation:
• This is where the X makes the difference
• Punnett square with the eye color gene on
the X chromosomes correctly predicts that
all of the female flies will have red eyes,
while half of the male flies will have white
eyes.
• The male flies get their only X
chromosome from their mother, who is
heterozygous (Xw+ Xw) leading to the
fifty-fifty split of phenotypes.