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E L X chromosome
W Barr bodies
Lyon hypothesis
 X chromosomes
• The x chromosome is one if the two sex determining
chromosomes [allosomes] in many organisms, including
mammals[the other is the Y chromosome] and is found in
both females and males.
• It is a part of the XY sex determination system.
• Length [bp] 156,040,895
• No of genes 804 genes
• Type allosome
• Centromere
Position submetacentric
The x chromosome span about 155 million DNA base pairs and
represents approximately 5 percent of the total DNA in cells.
It represent about 800 protein coding genes.
Each person normally has one pair of sex chromosomes in
each cell. Females have two while males have one X and one
Y chromosomes.
 Structure of X chromosomes
• The chromosomes for other parts of the body are the same
size and shape forming identical pairing , the X and Y
chromosomes have different structures.
• The X chromosome is significantly longer than the y
chromosome and contains hundreds more genes. The X
genes are dominant. This means that almost any gene on
the X even if it is almost recessive in the female will be
expressed in males. These are referred to as X linked
genes.
• X chromosome of most organism are straight rod like and
comparatively longer than Y chromosome.
• X chromosome have large euchromatin and small amount
of heterochromatin. Euchromatin have large amount of DNA
and hence much genetic information.
• Because males have only one x chromosome, they are
more likely to have an x chromosome related disease.
 Chromosome abnormalities
• Abnormalities in the sex chromosome combination can
result in a variety of gender specific conditions that are
rarely lethal.
• Female abnormalities result in turner syndrome or trisomy X.
turner syndrome results when a female cell has one normal
x and the other sex chromosome is missing.
• Whereas in trisomy x there is an extra copy of x
chromosome.
• Males can be affected by klinfelter syndrome.
•
 Barr bodies
Barr and Bertram [1949] reported deeply stained
chromatin body[i.e. a chromocenter] in the nerve cells of
female cat which was absent in the male.
This chromatin body is called as sex chromatin or Barr
body after the name of discoverer.
Such Barr bodies has also been observed in most of the
body cells for example skin, oral epithelium and blood cells
of human and other mammals.
• Barr body is an inactivated, condensed X chromosomes
found in female cells. Since female possess two X
chromosomes and males have one X chromosomes and Y
chromosomes, Barr bodies are essential to regulate the
amount of X linked gene products being transcribed.
• Dosage compensation
when the body inactivates extra X
chromosomes to keep the dosage of genetic product equal
it is called as dosage compensation.
Barr bodies are found at four position
Nucleolus as in nerve cells of certain species.
Attached to the nuclear membrane as in cells of
epidermis or of oral mucosa.
Free in the nucleoplasm as in neurons after
stimulation.
Nuclear expansion
• The number of Barr bodies present in any animal is just one
less than the number of X chromosomes.
• Females have one Barr bodies since they have two X
chromosomes.
• Males have no Barr bodies since they have only one X
chromosomes.
• Super female have two Barr bodies since they have three X
chromosomes.
• Male with klinefelter syndrome have one Barr bodies since
they have two X chromosomes.
 X inactivation and mechanism
• Two genes control the X chromosome inactivation : Xist
and Tisx.
• Xist is expressed only in cells containing two X
chromosomes and it has the ability to recruit various
silencing proteins to mark the future non coding X
chromosomes.
• Mammalian X chromosomes inactivation is initiated from
the X inactivation center or xic, near the centromere. The
center contains 12 genes, 7 of which code for proteins and
5 for untranslated RNAs of which only 2 are known to play
an active role in X inactivation process, xist and tsix. They
are antagonist in nature.
• Inactivation is done by histone modifications (H3
methylation,H2A ubiquitination)
• Reactivation also occurs incase of breast cancer patients.
 Lyonisation
• After the discovery of Barr bodies many question arises.
This leads to Lyon hypothesis.
• The hypothesis is named after Mary Lyon.
• Lyon hypothesis states that inactivation is random at an
early point in development and once inactivated all
progeny cells have the same x chromosomes inactivated.
• Lyon hypothesis was demonstrated by Lyon of U.K that
whenever the number of X chromosomes was two or more
than two, the number of Barr bodies was one less than the
number of X chromosomes .
• The inactivation of X chromosomes is a random
phenomenon. This fact has been demonstrated in human
disease linked X chromosomes. The Lesch Nyhan
syndrome in which a deficiency of one enzyme of purine
metabolism produces mental retardation and increased uric
acid levels results from a recessive mutation in the X
chromosomes.
Thank you