X inactivation and disease

  • Agrelo R
  • Wutz A
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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. © 2009 Elsevier Ltd. All rights reserved.

Author-supplied keywords

  • Chromatin
  • Dosage compensation
  • Epigenetics
  • Gene regulation
  • Stem cells
  • X inactivation
  • Xist RNA

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Authors

  • Ruben Agrelo

  • Anton Wutz

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