Elizabeth Prough

An Sci 431w
Research on the Inactive X Chromosome
University of California San Francisco scientists have begun
research on the X chromosome, especially on its ability to have one X
chromosome become completely inactive(Biophysical Society et al.,
2014). They used calico cats to describe the way that the X
chromosome works. The reason they used this as an example is
because of the visualization of what happens when one of the X
chromosomes gets silenced. The female calico cat is born with two X
chromosomes like any female would be. There is an orange fur gene
on one X chromosome and a black fur gene on the other X
chromosome. Random silencing of one of the X chromosomes creates
the orange and black patchwork on the calico cat. These scientists
wanted to look at what exactly causes the silencing of an X
chromosome.
In order to address the lack of knowledge of the X chromosome,
this group of scientists tried to view an image of the X chromosome in
an intact cell. They used soft x-ray tomography to get high- resolution
and 3-dimensional images of the intact nucleus. They also used a
prototype cyro fluorescence microscope with the x-ray microscope to
identify a specific chromosome that was the inactive X chromosome of
the female cells. When they were able to observe a number of

different inactive chromosomes, they noticed that there was a

variation in the structural organization by the chromosome. They
created what they call the correlated imaging technique that could
help future scientists identify the position of specific molecules within
the nucleus of cells. Using specialized fluorescent probes they can
identify the position of specific genes inside of the DNA strand within a
nucleus (Biophysical Society et al., 2014).
The presentation of this topic was titled The Topological
Organization of the Inactive X Chromosome in its Native State (Smith
et al., 2014) and in further investigation the animals used for the
chromosome research were mice. They showed only two 3dimensional pictures of what they believed was the inactive X
chromosome in these female mice. They found that the inactive X
chromosome was identified in each cell by having a strong intensity of
fluorescently labeled histone variant specifically macroH2A-EGFP.
There were eleven individual cells shown so they were able to conclude
that there is a lot of variance in the inactive X chromosomes within the
female (Smith et al., 2014).
The article also had a link to the website Genetics Home
Reference in an article titled X chromosome (X chromosome et al.,
2015). This website described the X chromosome in further detail than
the article. Lyonization or X-inactivation is when one of the two X
chromosomes is randomly and permanently inactivated. This

inactivation is important because it means that the female will have

one functional copy of an X chromosome. Typically one X chromosome
will be activated from the mother in some of the cells and then the
other X chromosomes will be activated from the father. Although most
of the time the female always has one inactive X chromosome there
are some cases where there are genes that do not get inactivated.
These genes are usually found towards the end of the X chromosome
on an area called the pseudoautosomal region. These regions are
found on both sex chromosomes therefore men and women have two
functional copies of these genes. A lot of the genes found in this
region are necessary for normal development (X chromosome et al.,
2015).
The article "Calico cats inspire X chromosome research"
(Biophysical Society et al., 2014) had a lot of accurate information
about the X chromosome; however, it is an article about a presentation
that was presented at the Biophysical Society Annual Meeting. This
means that this article is about a scientific technology that has not
been fully developed yet. There is no scientific peer reviewed journal
linked to this article because it has not been published in a peer
reviewed scientific journal. This tells me that the microscopic
technology that they have been working with to get these images of
the chromosomes is in its very basic state. They have not yet received
the confirmation from other scientists in the field to confirm that what

they have found is viable and logical. They only have two viable
images of the nucleus displaying what they think is the inactive X
chromosome. This is not nearly enough experimental units to prove
that what they found using this technology is significant. This article
also catches the attention of the reader by using calico cats as an
example of X chromosome inactivation. However, in the actual
abstract for this experiment The Topological Organization of the
Inactive X Chromosome in its Native State they used the DNA from
female mice. This makes me question the entire article because the
article is titled Calico cats inspire X chromosome research, but the
scientists did not even mention the cats at all during their
presentation.
I understood that the X chromosome is on both male and
females, however the female has two X chromosomes and the male
only has one. I also knew that the genes on the X chromosome are
alternated between the father and the mother of the organism. I did
not, however, have too much knowledge of X chromosome silencing
and that it happened randomly throughout the females genes. It is
very interesting to me that we are able to develop the technology to
view the nucleus unharmed and see the types of chromosomes inside
the DNA strand in a fully functional cell. I did not get too much
knowledge about the technology that the article was presenting
because there was not much written about it in the journal cited. The

paper advanced my knowledge in the inactivation of X chromosomes;

however, it was very unclear about how they developed the technology
to view these X chromosomes in their natural state. The overall quality
of the story source was poor in my opinion because there was very
little information along with what the researchers presented in their
presentation to the point where they had to site another website just to
further explain the X chromosome itself. I did not find any evidence
that their method was independently replicated by anyone else while
looking at the sources for the story. This is a red flag to me because
this means that no other researchers in their field went on to test their
theory themselves to prove it accurate. Looking at the source for the
article the researchers did not have a valid hypothesis for their
experiment. They were just overall trying to observe the inactive X
chromosome and then claimed to have found it. They appeared to be
overstating the findings of their research because the article and
source of the article stated that the accurately found the inactive X
chromosome, but only had two pictures to back up their findings and
did not write very much on why they believed what they found was
actually this inactivated X chromosome. Overall the article advances
the general publics understanding on X chromosome inactivation.
Unfortunately, it also confuses the public on the technology used to
observe the chromosome within the nucleus.

Bibliography

Biophysical Society. "Calico cats inspire X chromosome research."

ScienceDaily.

ScienceDaily, 18 February 2014.

<www.sciencedaily.com/releases/2014/02/140218142249.htm>.

Smith, Elizabeth A., Gerry Mcdermott, Karen Leung, Barbara Panning,

Carolyn A.
Larabell, and Mark A. Le Gros. "The Topological Organization of
the Inactive X Chromosome in Its Native State." Biophysical
Journal 106.2 (2014): n. pag. Web.

"X Chromosome." Genetics Home Reference. US National Library of

Medicine, 19 Oct.
2015. Web. 20 Oct. 2015.
<http://ghr.nlm.nih.gov/chromosome/X>