X-inactivation profile reveals extensive variability in X-linked gene expression in females
- PMID: 15772666
- DOI: 10.1038/nature03479
X-inactivation profile reveals extensive variability in X-linked gene expression in females
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.
Comment in
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Genome biology: she moves in mysterious ways.Nature. 2005 Mar 17;434(7031):279-80. doi: 10.1038/434279a. Nature. 2005. PMID: 15772630 No abstract available.
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