Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome
Identifieur interne : 003167 ( Pmc/Corpus ); précédent : 003166; suivant : 003168Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome
Auteurs : Eugénie Pessia ; Takashi Makino ; Marc Bailly-Bechet ; Aoife Mclysaght ; Gabriel A. B. MaraisSource :
- Proceedings of the National Academy of Sciences of the United States of America [ 0027-8424 ] ; 2012.
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:
DOI: 10.1073/pnas.1116763109
PubMed: 22392987
PubMed Central: 3325647
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome</title><author><name sortKey="Pessia, Eugenie" sort="Pessia, Eugenie" uniqKey="Pessia E" first="Eugénie" last="Pessia">Eugénie Pessia</name><affiliation><nlm:aff id="aff1">Laboratoire de Biométrie et Biologie évolutive, Université Lyon 1,<institution>Centre National de la Recherche Scientifique</institution>, Villeurbanne F-69622 cedex,<country>France</country>;</nlm:aff></affiliation></author><author><name sortKey="Makino, Takashi" sort="Makino, Takashi" uniqKey="Makino T" first="Takashi" last="Makino">Takashi Makino</name><affiliation><nlm:aff id="aff2">Department of Ecology and Evolutionary Biology, Graduate School of Life Sciences,<institution>Tohoku University</institution>, Aoba-ku, Sendai 980-8578,<country>Japan</country>;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff3">Smurfit Institute of Genetics,<institution>University of Dublin</institution>, Trinity College, Dublin 2,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="Bailly Bechet, Marc" sort="Bailly Bechet, Marc" uniqKey="Bailly Bechet M" first="Marc" last="Bailly-Bechet">Marc Bailly-Bechet</name><affiliation><nlm:aff id="aff1">Laboratoire de Biométrie et Biologie évolutive, Université Lyon 1,<institution>Centre National de la Recherche Scientifique</institution>, Villeurbanne F-69622 cedex,<country>France</country>;</nlm:aff></affiliation></author><author><name sortKey="Mclysaght, Aoife" sort="Mclysaght, Aoife" uniqKey="Mclysaght A" first="Aoife" last="Mclysaght">Aoife Mclysaght</name><affiliation><nlm:aff wicri:cut="; and" id="aff3">Smurfit Institute of Genetics,<institution>University of Dublin</institution>, Trinity College, Dublin 2,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="Marais, Gabriel A B" sort="Marais, Gabriel A B" uniqKey="Marais G" first="Gabriel A. B." last="Marais">Gabriel A. B. Marais</name><affiliation><nlm:aff id="aff1">Laboratoire de Biométrie et Biologie évolutive, Université Lyon 1,<institution>Centre National de la Recherche Scientifique</institution>, Villeurbanne F-69622 cedex,<country>France</country>;</nlm:aff></affiliation><affiliation><nlm:aff id="aff4"><institution>Instituto Gulbenkian de Ciência</institution>, P-2780-156 Oeiras,<country>Portugal</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22392987</idno><idno type="pmc">3325647</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325647</idno><idno type="RBID">PMC:3325647</idno><idno type="doi">10.1073/pnas.1116763109</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">003167</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003167</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome</title><author><name sortKey="Pessia, Eugenie" sort="Pessia, Eugenie" uniqKey="Pessia E" first="Eugénie" last="Pessia">Eugénie Pessia</name><affiliation><nlm:aff id="aff1">Laboratoire de Biométrie et Biologie évolutive, Université Lyon 1,<institution>Centre National de la Recherche Scientifique</institution>, Villeurbanne F-69622 cedex,<country>France</country>;</nlm:aff></affiliation></author><author><name sortKey="Makino, Takashi" sort="Makino, Takashi" uniqKey="Makino T" first="Takashi" last="Makino">Takashi Makino</name><affiliation><nlm:aff id="aff2">Department of Ecology and Evolutionary Biology, Graduate School of Life Sciences,<institution>Tohoku University</institution>, Aoba-ku, Sendai 980-8578,<country>Japan</country>;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff3">Smurfit Institute of Genetics,<institution>University of Dublin</institution>, Trinity College, Dublin 2,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="Bailly Bechet, Marc" sort="Bailly Bechet, Marc" uniqKey="Bailly Bechet M" first="Marc" last="Bailly-Bechet">Marc Bailly-Bechet</name><affiliation><nlm:aff id="aff1">Laboratoire de Biométrie et Biologie évolutive, Université Lyon 1,<institution>Centre National de la Recherche Scientifique</institution>, Villeurbanne F-69622 cedex,<country>France</country>;</nlm:aff></affiliation></author><author><name sortKey="Mclysaght, Aoife" sort="Mclysaght, Aoife" uniqKey="Mclysaght A" first="Aoife" last="Mclysaght">Aoife Mclysaght</name><affiliation><nlm:aff wicri:cut="; and" id="aff3">Smurfit Institute of Genetics,<institution>University of Dublin</institution>, Trinity College, Dublin 2,<country>Ireland</country></nlm:aff></affiliation></author><author><name sortKey="Marais, Gabriel A B" sort="Marais, Gabriel A B" uniqKey="Marais G" first="Gabriel A. B." last="Marais">Gabriel A. B. Marais</name><affiliation><nlm:aff id="aff1">Laboratoire de Biométrie et Biologie évolutive, Université Lyon 1,<institution>Centre National de la Recherche Scientifique</institution>, Villeurbanne F-69622 cedex,<country>France</country>;</nlm:aff></affiliation><affiliation><nlm:aff id="aff4"><institution>Instituto Gulbenkian de Ciência</institution>, P-2780-156 Oeiras,<country>Portugal</country></nlm:aff></affiliation></author></analytic><series><title level="j">Proceedings of the National Academy of Sciences of the United States of America</title><idno type="ISSN">0027-8424</idno><idno type="eISSN">1091-6490</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>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.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Proc Natl Acad Sci U S A</journal-id><journal-id journal-id-type="iso-abbrev">Proc. Natl. Acad. Sci. U.S.A</journal-id><journal-id journal-id-type="hwp">pnas</journal-id><journal-id journal-id-type="pmc">pnas</journal-id><journal-id journal-id-type="publisher-id">PNAS</journal-id><journal-title-group><journal-title>Proceedings of the National Academy of Sciences of the United States of America</journal-title></journal-title-group><issn pub-type="ppub">0027-8424</issn><issn pub-type="epub">1091-6490</issn><publisher><publisher-name>National Academy of Sciences</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22392987</article-id><article-id pub-id-type="pmc">3325647</article-id><article-id pub-id-type="publisher-id">201116763</article-id><article-id pub-id-type="doi">10.1073/pnas.1116763109</article-id><article-categories><subj-group subj-group-type="heading"><subject>Biological Sciences</subject><subj-group><subject>Evolution</subject></subj-group></subj-group><series-title>From the Cover</series-title></article-categories><title-group><article-title>Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome</article-title><alt-title alt-title-type="short">Evolution of X dosage compensation in humans</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Pessia</surname><given-names>Eugénie</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Makino</surname><given-names>Takashi</given-names></name><xref ref-type="aff" rid="aff2"><sup>b</sup></xref><xref ref-type="aff" rid="aff3"><sup>c</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bailly-Bechet</surname><given-names>Marc</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref></contrib><contrib contrib-type="author"><name><surname>McLysaght</surname><given-names>Aoife</given-names></name><xref ref-type="aff" rid="aff3"><sup>c</sup></xref></contrib><contrib contrib-type="author"><name><surname>Marais</surname><given-names>Gabriel A. B.</given-names></name><xref ref-type="aff" rid="aff1"><sup>a</sup></xref><xref ref-type="aff" rid="aff4"><sup>d</sup></xref><xref ref-type="corresp" rid="cor1"><sup>1</sup></xref></contrib><aff id="aff1"><sup>a</sup>Laboratoire de Biométrie et Biologie évolutive, Université Lyon 1,<institution>Centre National de la Recherche Scientifique</institution>, Villeurbanne F-69622 cedex,<country>France</country>;</aff><aff id="aff2"><sup>b</sup>Department of Ecology and Evolutionary Biology, Graduate School of Life Sciences,<institution>Tohoku University</institution>, Aoba-ku, Sendai 980-8578,<country>Japan</country>;</aff><aff id="aff3"><sup>c</sup>Smurfit Institute of Genetics,<institution>University of Dublin</institution>, Trinity College, Dublin 2,<country>Ireland</country>; and</aff><aff id="aff4"><sup>d</sup><institution>Instituto Gulbenkian de Ciência</institution>, P-2780-156 Oeiras,<country>Portugal</country></aff></contrib-group><author-notes><corresp id="cor1"><sup>1</sup>To whom correspondence should be addressed. E-mail: <email>gabriel.marais@univ-lyon1.fr</email>.</corresp><fn fn-type="edited-by"><p>Edited<xref ref-type="fn" rid="fn1">*</xref> by Michael Freeling, University of California, Berkeley, CA, and approved February 3, 2012 (received for review October 13, 2011)</p></fn><fn fn-type="con"><p>Author contributions: G.A.B.M. designed research; E.P., T.M., and M.B.-B. performed research; T.M. and A.M. contributed new reagents/analytic tools; E.P., M.B.-B., and G.A.B.M. analyzed data; and E.P., A.M., and G.A.B.M. wrote the paper.</p></fn></author-notes><pub-date pub-type="ppub"><day>3</day><month>4</month><year>2012</year></pub-date><pub-date pub-type="epub"><day>5</day><month>3</month><year>2012</year></pub-date><volume>109</volume><issue>14</issue><fpage>5346</fpage><lpage>5351</lpage><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="pnas.201116763.pdf"></self-uri><abstract><p>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.</p></abstract><kwd-group><kwd>Y degeneration</kwd><kwd>sex-linked gene expression</kwd><kwd>balance hypothesis</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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