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X and Y Chromosomes (17.9, 3.21) - 2
X and Y Chromosomes (17.9, 3.21) - 2
9
Sex is determined by X and
Y chromosome
OBJECTIVES
To understand how sex
is determined and
inherited in humans
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.
(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.