Genes that escape from X inactivation

Joel B. Berletch, Fan Yang, Jun Xu, Laura Carrel, Christine M. Disteche

Research output: Contribution to journalArticlepeer-review

187 Scopus citations

Abstract

To achieve a balanced gene expression dosage between males (XY) and females (XX), mammals have evolved a compensatory mechanism to randomly inactivate one of the female X chromosomes. Despite this chromosome-wide silencing, a number of genes escape X inactivation: in women about 15% of X-linked genes are bi-allelically expressed and in mice, about 3%. Expression from the inactive X allele varies from a few percent of that from the active allele to near equal expression. While most genes have a stable inactivation pattern, a subset of genes exhibit tissue-specific differences in escape from X inactivation. Escape genes appear to be protected from the repressive chromatin modifications associated with X inactivation. Differences in the identity and distribution of escape genes between species and tissues suggest a role for these genes in the evolution of sex differences in specific phenotypes. The higher expression of escape genes in females than in males implies that they may have female-specific roles and may be responsible for some of the phenotypes observed in X aneuploidy.

Original languageEnglish (US)
Pages (from-to)237-245
Number of pages9
JournalHuman genetics
Volume130
Issue number2
DOIs
StatePublished - Aug 2011

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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