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Barr Bodies
Lyonization, named after Dr. Mary Lyon, is the name of the
process that gives rise to a Barr Body.
The number of Barr Bodies present can be determined by:
# of X chromosomes 1. A woman with Trisomy X would
have 2 Barr Bodies. A Klinefelter male, XXY, would have
one.
Barr Bodies are viewed during Interphase of the cell cycle.
Barr Bodies
Barr Bodies are made to accomplish Gene Dosage
Compensation.
Gene Dosage Compensation is the inactivation of one or
more X chromosomes in female mammals (or XXY
males) to allow expression of only one X chromosome
giving males and females the same gene dose from the X
chromosome.
Barr Bodies
Lyonization occurs early in development around the 16 th
day of gestation.
Each cell randomly inactivates one of its X chromosomes.
All progeny or daughter cells resulting from mitosis will
inactivate the same X chromosome and leads to a
mosaic pattern of expression for X genes.
Mosaic
Mosaics in Nature
The calico cat is the classic example of a Mosaic. The X
chromosomes carries a gene for fur color on them. The
gene usually codes either the tabby color or the black
color. A calico cat has a white base color with patches of
tabby or black depending on which X chromosome has
been inactivated through Lyonization. Because the
inactivation is initially random, the tabby and black
patches should roughly be equal in area due to 50%
chance any given X would be chosen for inactivation.
Mosaics in Nature
Human Females are indeed mosaics.
Hemophilia is a well known X-linked trait.
Female carriers of hemophilia will have mosaic liver
tissue. Some portions of the liver will produce
appropriate amounts of clotting agent and others will not
produce any.
How different would our world be if dermal melanin
content, i.e. human skin color, was a gene carried on the
X chromosome?
X Chromosome Inactivation
X inactivation is not fully understood but is regulated by
several factors.
In Mammals there is an important region of DNA on the X
chromosomes called the X Inactivation Center, XIC.
The XIC has genes encoding at least five non-translated
RNAs and seven protein encoding Genes.
The X-inactive Specific Transcript, Xist, is a major factor
in the X inactivation process.
DNA Methylation
DNA methylation may help silence X chromosome genes.
In mammals, the cytosine of the dinucleotide, 5-CpG-3,
can be enzymatically methylated after DNA synthesis.
Methylated CpG can repress RNA transcription and a
great majority of methylated CpG in cells can be found on
the inactive X chromosome.
DNA Methylation
CpG methylation may play a role in expression of Xist.
On the Xa chromosome, where Xist is not expressed, the
CpG islands found in the promoter region of Xist become
methylated during X inactivation.
On the Xi chromosome, where Xist is expressed,
hypomethylation of the CpG islands is observed.
Histone Acetylation
Histone acetylation, the addition of COCH 3, is thought to
be involved in genetic expression.
Hyperacetylation of Histones relaxes DNA condensation
and promotes gene expression.
Hypoacetylation is associated with gene silencing.
Regions of Xi (not Xic) that have been silenced show low
levels of histone acetylation.
Psuedoautosomal Regions
Up to 25% of the genes on the human Xi escape
inactivation or silencing and reside in clusters on Xi.
Unlike a majority of the genes on the X chromosome, a
copy these genes are also found on the Y chromosome.
Therefore, expression of these genes from both X
chromosomes in females would create the same gene
dose as found in males.
These regions are called psuedoautosomal regions.
Epigenetic Inheritance
Once an X chromosome is inactivated, all daughter cells
will inactivate the same X chromosome.
However, the DNA sequence of these cells remains
unaltered so no mutation of the DNA has taken place.
Yet, the progeny cells continue to inactivate the same X
chromosome and exhibit an inherited trait.
This is termed Epigenetic Inheritance.
Gender Testing
Ewa Klobukowska won Gold and Bronze
medals in the 1964 Olympics.
Subsequent Karyotyping revealed she was
a mosaic. (XX) and (XXY).
She was stripped of her titles.
Ironically, She would have passed the
1968 Olympic standard of having a Barr
Body.
She retired from competition and
proceeded to give birth to a healthy boy.
Female? You decide.