Human Genetics

, Volume 130, Issue 2, pp 175–185

X-chromosome inactivation: molecular mechanisms from the human perspective

Authors

  • Christine Yang
    • Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences InstituteUniversity of British Columbia
  • Andrew G. Chapman
    • Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences InstituteUniversity of British Columbia
  • Angela D. Kelsey
    • Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences InstituteUniversity of British Columbia
  • Jakub Minks
    • Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences InstituteUniversity of British Columbia
  • Allison M. Cotton
    • Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences InstituteUniversity of British Columbia
    • Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences InstituteUniversity of British Columbia
Review Paper

DOI: 10.1007/s00439-011-0994-9

Cite this article as:
Yang, C., Chapman, A.G., Kelsey, A.D. et al. Hum Genet (2011) 130: 175. doi:10.1007/s00439-011-0994-9

Abstract

X-chromosome inactivation is an epigenetic process whereby one X chromosome is silenced in mammalian female cells. Since it was first proposed by Lyon in 1961, mouse models have been valuable tools to uncover the molecular mechanisms underlying X inactivation. However, there are also inherent differences between mouse and human X inactivation, ranging from sequence content of the X inactivation center to the phenotypic outcomes of X-chromosome abnormalities. X-linked gene dosage in males, females, and individuals with X aneuploidies and X/autosome translocations has demonstrated that many human genes escape X inactivation, implicating cis-regulatory elements in the spread of silencing. We discuss the potential nature of these elements and also review the elements in the X inactivation center involved in the early events in X-chromosome inactivation.

Copyright information

© Springer-Verlag 2011