Wednesday, September 16, 2015

X Chromosome Inactivation

During embryonic development, one copy of a woman's X chromosome is inactivated randomly. This leaves one active X chromosome with over 1,000 genes to work its magic in development. X chromosome inactivation occurs in many female mammals, including cats. This inactivation of the other X chromosome occurs in domains, long pieces of DNA that cluster together like knots. These domains are co-regulated. Scientists have noted that it is very likely that many diseases are linked to incorrect inactivation among domains. Typically, these domains are inactivated from the center of the chromosome to the ends. Recently, Hendrik Marks expressed his hopes to uncover why one X chromosome is selected over the other for inactivation. He states that this discovery could help scientists prevent X-linked diseases, such as fragile X syndrome or Rett syndrome. Marks and other molecular biologists are working on figuring out if certain parts of the inactive X chromosome can be reactivated in order to help treat various diseases.

A two-panel diagram shows two models of X-chromosome inactivation: the de novo activation model and the pre-inactivation model. In the de novo inactivation model, the paternal X chromosome is inactivated and reactivated multiple times before fertilization and in the early stages of development until final random X-chromosome inactivation occurs in the embryo. In the pre-inactivation model, the paternal X chromosome is pre-inactivated before fertilization and undergoes complete silencing in the extraembryonic cells and random X-chromosome inactivation in the embryonic cells.
The research being done by many scientists, including Marks, can prove to be very important to the health of many women around the world. If one day scientists are able to silence specific, disease causing genes on the X chromosome, the chances of having an X-linked disease will be decreased dramatically. I believe that the research being done by Marks and his partners is a remarkable stepping stone into understanding how to prevent X-linked diseases.

To read the original article, click here.
A similar article that better explains the process by which the X chromosome is inactivated can be found here.

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