LymphedemaV1, France, Analysis, bibRecord, 000219

Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome

Identifieur interne : 000219 ( France/Analysis ); précédent : 000218; suivant : 000220

Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome

Auteurs : Eugénie Pessia [France] ; Takashi Makino [Japon, Irlande (pays)] ; Marc Bailly-Bechet [France] ; Aoife Mclysaght [Irlande (pays)] ; Gabriel A. B. Marais [France, Portugal]

Source :

Proceedings of the National Academy of Sciences of the United States of America [ 0027-8424 ] ; 2012.

RBID : PMC:3325647

Abstract

How and why female somatic X-chromosome inactivation (XCI) evolved in mammals remains poorly understood. It has been proposed that XCI is a dosage-compensation mechanism that evolved to equalize expression levels of X-linked genes in females (2X) and males (1X), with a prior twofold increase in expression of X-linked genes in both sexes (“Ohno's hypothesis”). Whereas the parity of X chromosome expression between the sexes has been clearly demonstrated, tests for the doubling of expression levels globally along the X chromosome have returned contradictory results. However, changes in gene dosage during sex-chromosome evolution are not expected to impact on all genes equally, and should have greater consequences for dosage-sensitive genes. We show that, for genes encoding components of large protein complexes (≥ 7 members)—a class of genes that is expected to be dosage-sensitive—expression of X-linked genes is similar to that of autosomal genes within the complex. These data support Ohno's hypothesis that XCI acts as a dosage-compensation mechanism, and allow us to refine Ohno's model of XCI evolution. We also explore the contribution of dosage-sensitive genes to X aneuploidy phenotypes in humans, such as Turner (X0) and Klinefelter (XXY) syndromes. X aneuploidy in humans is common and is known to have mild effects because most of the supernumerary X genes are inactivated and not affected by aneuploidy. Only genes escaping XCI experience dosage changes in X-aneuploidy patients. We combined data on dosage sensitivity and XCI to compute a list of candidate genes for X-aneuploidy syndromes.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325647

DOI: 10.1073/pnas.1116763109
PubMed: 22392987
PubMed Central: 3325647

Affiliations:

France, Irlande (pays), Japon, Portugal

Links to Exploration step

PMC:3325647

Le document en format XML

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Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome

Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome

Source :

Abstract

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