The phenomenon of X chromosome inactivation and human diseases

  • Authors: Shevchenko A.I1,2,3
  • Affiliations:
    1. Federal Research Center Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences
    2. Institute of Chemical Biology and Fundamental Medicine, the Siberian Branch of the Russian Academy of Sciences
    3. State Research Institute of Circulation Pathology, Ministry of Healthcare of the Russian Federation
  • Issue: Vol 11, No 2 (2016)
  • Pages: 61-69
  • Section: Articles
  • URL:
  • DOI:

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In early development, one of the two X chromosomes is randomly inactivated in each somatic cell of female embryos. As a result, women are mosaics that means about a half of their cells bear the active X chromosome inherited from the father, while the genes of the maternally inherited X chromosome are expressed in the other half. Disturbance in the inactivation process during embryogenesis leads to fetal death. Reactivation of the inactive X chromosome in female cells can cause a number of diseases, including cancer and autoimmune disorders. Changes in randomness of X-chromosome inactivation and skewed choice of one of the X-chromosomes for inactivation can influence clinical manifestations of about 400 diseases associated with mutations in X-linked genes. The phenomenon of X chromosome inactivation is also an important issue for successful application of human pluripotent stem cells in biomedical research and regenerative medicine.

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About the authors

A. I Shevchenko

Federal Research Center Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences; Institute of Chemical Biology and Fundamental Medicine, the Siberian Branch of the Russian Academy of Sciences; State Research Institute of Circulation Pathology, Ministry of Healthcare of the Russian Federation

Novosibirsk, Russia


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