title: X-chromosome inactivation: molecular mechanisms from the human perspective.
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.
authors.affiliation: Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, Vancouver, BC V6T 1Z3, Canada.
authors.forename: Christine
authors.initials: C
authors.lastname: Yang
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Chapman
authors.forename: Angela D
authors.initials: AD
authors.lastname: Kelsey
authors.forename: Jakub
authors.initials: J
authors.lastname: Minks
authors.forename: Allison M
authors.initials: AM
authors.lastname: Cotton
authors.forename: Carolyn J
authors.initials: CJ
authors.lastname: Brown
mesh_terms: D000782:Aneuploidy; D000818:Animals; D044127:Epigenesis, Genetic / Q000235:genetics / Q000502:physiology*; D005260:Female; D018628:Gene Dosage / Q000235:genetics / Q000502:physiology*; D020868:Gene Silencing; D006801:Humans; D008297:Male; D051379:Mice; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*; D049951:X Chromosome Inactivation / Q000235:genetics / Q000502:physiology*