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Hum Genet. 2011 Aug;130(2):223-36. doi: 10.1007/s00439-011-1008-7. Epub 2011 May 28.

Xist regulation and function explored.

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  • 1Department of Reproduction and Development, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.

Abstract

X chromosome inactivation (XCI) is a process in mammals that ensures equal transcript levels between males and females by genetic inactivation of one of the two X chromosomes in females. Central to XCI is the long non-coding RNA Xist, which is highly and specifically expressed from the inactive X chromosome. Xist covers the X chromosome in cis and triggers genetic silencing, but its working mechanism remains elusive. Here, we review current knowledge about Xist regulation, structure, function and conservation and speculate on possible mechanisms by which its action is restricted in cis. We also discuss dosage compensation mechanisms other than XCI and how knowledge from invertebrate species may help to provide a better understanding of the mechanisms of mammalian XCI.

PMID:
21626138
PMCID:
PMC3132428
DOI:
10.1007/s00439-011-1008-7
[PubMed - indexed for MEDLINE]
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