X inactivation and disease

Semin Cell Dev Biol. 2010 Apr;21(2):194-200. doi: 10.1016/j.semcdb.2009.09.017. Epub 2009 Oct 6.

Abstract

X inactivation is the mechanism by which mammals adjust the X-linked gene dosage between the sexes. The dosage difference between XX females and XY males is functionally equalized by silencing one of the two X chromosomes in female cells. This dosage-compensation mechanism is based on the long functional Xist RNA. Here, we review our understanding of dosage compensation and Xist function in the context of disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Dosage Compensation, Genetic / physiology*
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Male
  • RNA, Long Noncoding
  • RNA, Untranslated / physiology*
  • X Chromosome Inactivation / physiology*

Substances

  • RNA, Long Noncoding
  • RNA, Untranslated
  • XIST non-coding RNA