X-inactivation profile reveals extensive variability in X-linked gene expression in females

Laura Carrel, Huntington F. Willard

Research output: Contribution to journalArticlepeer-review

1300 Scopus citations

Abstract

In female mammals, most genes on one X chromosome are silenced as a result of X-chromosome inactivation. However, some genes escape X-inactivation and are expressed from both the active and inactive X chromosome. Such genes are potential contributors to sexually dimorphic traits, to phenotypic variability among females heterozygous for X-linked conditions, and to clinical abnormalities in patients with abnormal X chromosomes. Here, we present a comprehensive X-inactivation profile of the human X chromosome, representing an estimated 95% of assayable genes in fibroblast-based test systems. In total, about 15% of X-linked genes escape inactivation to some degree, and the proportion of genes escaping inactivation differs dramatically between different regions of the X chromosome, reflecting the evolutionary history of the sex chromosomes. An additional 10% of X-linked genes show variable patterns of inactivation and are expressed to different extents from some inactive X chromosomes. This suggests a remarkable and previously unsuspected degree of expression heterogeneity among females.

Original languageEnglish (US)
Pages (from-to)400-404
Number of pages5
JournalNature
Volume434
Issue number7031
DOIs
StatePublished - Mar 17 2005

All Science Journal Classification (ASJC) codes

  • General

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