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Trends Genet. 2003 Aug;19(8):432-8.

A stain upon the silence: genes escaping X inactivation.

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  • 1Department of Medical Genetics, University of British Columbia, 6174 University Blvd, Vancouver, British Columbia, Canada V6T 1Z3. cbrown@interchange.ubc.ca


X-chromosome inactivation is a remarkable epigenetic event in mammalian females that results in the transcriptional silencing of one of the pair of X chromosomes. However, not all X-linked genes are subject to inactivation, and in humans, the proportion of genes on the X chromosome that escapes inactivation is more than 15%. Here we examine the causes and consequences of failure to silence the entire X chromosome. We discuss the impact of the evolutionary history of the X (and Y) chromosome, and the bioinformatic approaches that promise to provide new insights into the genomic architecture of genes or regions that escape X-chromosome inactivation.

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