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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-03

AUTHORS

Laura Carrel, Huntington F. Willard

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. More... »

PAGES

400

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nature03479

DOI

http://dx.doi.org/10.1038/nature03479

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007477207

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15772666


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