Links to Exploration step
Le document en format XML
<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)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 0031679 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 0031679 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Pmc |étape= Corpus |type= RBID |clé= |texte= }}
![]() | This area was generated with Dilib version V0.6.31. | ![]() |