Sex linkage

Thomas Hunt Morgan is known as the father

of experimental genetics. He gave the experimental
evidence of the chromosomal theory of inheritance. 
He received the Nobel prize in 1933 for his work on
Drosophila to prove the role of chromosomes in
heredity.
Key points:
•In humans and other mammals, biological sex is determined by a pair
of sex chromosomes: XY in males and XX in females.

•Genes on the X chromosome are said to be X-linked. X-linked genes

have distinctive inheritance patterns because they are present in different
numbers in females (XX) and males (XY).

•X-linked human genetic disorders are much more common in males

than in females due to the X-linked inheritance pattern.
Sex linkage
In humans, biological sex is determined by a pair of sex
chromosomes: XX in females and XY in males. The
other 44 chromosomes are autosomes.
Genes on either the X or Y chromosome are sex-linked
traits. Genes found on the X chromosome can be found
in either males or females, while genes found on the Y
chromosome can only be found in males.
 
 
•XX embryos don't have SRY, so they develop as female.
•XY embryos do have SRY, so they develop as male.

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.
What is a sex-linked trait? 

Sex-linked traits are traits that are determined by genes

found on the X and Y chromosomes 

What is an example of a sex-linked trait?  

Red-green color blindness, hemophilia, and Fragile X
syndrome are all examples of sex-linked traits. 
How are sex-linked traits inherited? 
Sex-linked traits are inherited in three ways: X-linked
dominant, X-linked recessive, and Y-linked

Why are sex-linked traits more common in males? 

Males are hemizygous for the X chromosome meaning that
they only have one copy of the X chromosome. Therefore,
regardless of whether a male inherits a dominant or
recessive allele, they will express that trait. In contrast,
females have two X chromosomes, therefore, a recessive
allele can be masked by a dominant alelle.   
Males are ___ for the X chromosome
Hemizygous
Who discovered sex-linked traits?
Thomas Hunt Morgan
A biological male will inherit their X chromosome only from
their ____
Mother
How many pairs of chromosomes are there in the human
genome?
23 pairs of chromosomes, 22 pairs are autosomal
chromosomes and 1 pair is the sex chromosome 
What are the two types of sex chromosomes 
X AND Y
What sex chromosomes do males have 
XY
What sex chromosome do females have?
XX
What is an X-linked gene? 
A gene located on the X chromosome is an X-linked gene 

How many genes does X chromosome have?

900-1400 genes on each chromosome 

How many genes does the Y chromosome have?

70-90 genes on each Y chromosome 
Hemophilia is a?
Hemophilia is an X-linked recessive disorder characterized
by prolonged bleeding in the event of an injury

Barr body is an inactive copy of X chromosome in females 

True
X-linked inheritance
There are many more X-linked traits
than Y-linked traits because the Y
chromosome is much shorter and
fewer genes than the X
chromosome.
X-linked genes have distinctive inheritance patterns
because they are present in different numbers in females
(XX) and males (XY).
Females have two X chromosomes, so she will have two
copies of each X-linked gene, giving her the opportunity to
be either homozygous or heterozygous for each sex-linked
gene.
 
X-linked disorders
X-linked human genetic disorders are much more
common in males than in females. Since males only
have one X chromosome, and therefore one copy of
any X-linked genes, whatever allele the male
inherits for an X-linked gene will be expressed.
An example of this is the blood-clotting disorder,
hemophilia. Women who are heterozygous for
hemophilia are carriers, and they usually don't
display any symptoms themselves.
Sons of these women have a 50 \%50%50,
percent chance of having hemophilia. Daughters
have little chance of having hemophilia (unless the
father also has it), and will instead have
a 50\%50%50, percent chance of being carriers.
X-inactivation
If males can survive with only one X chromosome, why doesn't it
cause problems for women who have two X chromosomes?
As it turns out, for females, most of the genes in one of the X
chromosomes is inactivated, forming a Barr body. This
inactivation happens randomly during embryonic development.
Example:
A common example of X-inactivation is seen in cats. If a
female cat is heterozygous for black and tan alleles of a coat
color gene found on the X, two Xs (and thus, the two alleles
of the coat color gene) will be inactivated at random in
different cells during development.
Sex chromosome aneuploidy
Aneuploidy, or disorders of chromosome number, are
generally caused by nondisjunction. This occurs
when pairs of homologous chromosomes or sister
chromatids fail to separate during cell division.
 
In Klinefelter syndrome
males have one or more extra X chromosomes, leading to a
genotype of XXY. (Or in rare cases, XXXY or XXXXY!)
Affected men may be infertile or develop less dense body
and facial hair than other men.

Klinefelter syndrome (KS), also

known as 47,XXY,
Women affected with Triple X syndrome have an
XXX genotype. Women with Triple X syndrome have female
sex characteristics and are fertile (able to have children).
Trisomy X, also known as triple X syndrome and
characterized by the karyotype 47,XXX, is a chromosome disorder
in which a female has an extra copy of the X chromosome. A
relatively common disorder occurring in 1 in 1,000 women, trisomy
X is rarely diagnosed; fewer than 10% of those with the condition
know they have it.
Women with Turner syndrome lack part or
all of one of their X chromosomes (leaving her
with just one functional X). People with this
disorder develop as females, but often have
short stature and may experience infertility and
learning difficulties.
Turner syndrome. Turner syndrome
(TS), also known 45,X, or 45,X0, is a
genetic condition in which a female
is partly or completely missing an X
chromosome. Signs and symptoms
vary among those affected.
What is genetic recombination/ CROSSING
OVER?

Genetic recombination is the process of changing the

order of genetic information within and between DNA
molecules. This can happen in a number of ways. Now,
scientists are looking into how DNA rearrangements can
be used to change the genomes of a growing number of
organisms. At least three main types of genetic
recombination events can be found.
Recombination takes
  place during meiosis, when maternal
and paternal genes are regrouped in the formation of gametes (sex
cells).
Recombination occurs randomly in nature as a
normal event of meiosis and is enhanced by the phenomenon
of crossing over, in which gene sequences called linkage
groups are disrupted, resulting in an exchange of segments
between paired chromosomes that are undergoing
separation. Thus, although a normal daughter cell produced
in meiosis always receives half of the genetic material
contained in the parent cell (i.e., is haploid), recombination
acts to ensure constant variability: no two daughter cells are
identical, nor are any identical in genetic content to the
parent cell.
END