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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.</title><author><name sortKey="Migeon, B R" sort="Migeon, B R" uniqKey="Migeon B" first="B R" last="Migeon">B R Migeon</name></author><author><name sortKey="Luo, S" sort="Luo, S" uniqKey="Luo S" first="S" last="Luo">S. Luo</name></author><author><name sortKey="Stasiowski, B A" sort="Stasiowski, B A" uniqKey="Stasiowski B" first="B A" last="Stasiowski">B A Stasiowski</name></author><author><name sortKey="Jani, M" sort="Jani, M" uniqKey="Jani M" first="M" last="Jani">M. Jani</name></author><author><name sortKey="Axelman, J" sort="Axelman, J" uniqKey="Axelman J" first="J" last="Axelman">J. Axelman</name></author><author><name sortKey="Van Dyke, D L" sort="Van Dyke, D L" uniqKey="Van Dyke D" first="D L" last="Van Dyke">D L Van Dyke</name></author><author><name sortKey="Weiss, L" sort="Weiss, L" uniqKey="Weiss L" first="L" last="Weiss">L. Weiss</name></author><author><name sortKey="Jacobs, P A" sort="Jacobs, P A" uniqKey="Jacobs P" first="P A" last="Jacobs">P A Jacobs</name></author><author><name sortKey="Yang Feng, T L" sort="Yang Feng, T L" uniqKey="Yang Feng T" first="T L" last="Yang-Feng">T L Yang-Feng</name></author><author><name sortKey="Wiley, J E" sort="Wiley, J E" uniqKey="Wiley J" first="J E" last="Wiley">J E Wiley</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">8265665</idno><idno type="pmc">48118</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC48118</idno><idno type="RBID">PMC:48118</idno><date when="1993">1993</date><idno type="wicri:Area/Pmc/Corpus">001A06</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001A06</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.</title><author><name sortKey="Migeon, B R" sort="Migeon, B R" uniqKey="Migeon B" first="B R" last="Migeon">B R Migeon</name></author><author><name sortKey="Luo, S" sort="Luo, S" uniqKey="Luo S" first="S" last="Luo">S. Luo</name></author><author><name sortKey="Stasiowski, B A" sort="Stasiowski, B A" uniqKey="Stasiowski B" first="B A" last="Stasiowski">B A Stasiowski</name></author><author><name sortKey="Jani, M" sort="Jani, M" uniqKey="Jani M" first="M" last="Jani">M. Jani</name></author><author><name sortKey="Axelman, J" sort="Axelman, J" uniqKey="Axelman J" first="J" last="Axelman">J. Axelman</name></author><author><name sortKey="Van Dyke, D L" sort="Van Dyke, D L" uniqKey="Van Dyke D" first="D L" last="Van Dyke">D L Van Dyke</name></author><author><name sortKey="Weiss, L" sort="Weiss, L" uniqKey="Weiss L" first="L" last="Weiss">L. Weiss</name></author><author><name sortKey="Jacobs, P A" sort="Jacobs, P A" uniqKey="Jacobs P" first="P A" last="Jacobs">P A Jacobs</name></author><author><name sortKey="Yang Feng, T L" sort="Yang Feng, T L" uniqKey="Yang Feng T" first="T L" last="Yang-Feng">T L Yang-Feng</name></author><author><name sortKey="Wiley, J E" sort="Wiley, J E" uniqKey="Wiley J" first="J E" last="Wiley">J E Wiley</name></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="1993">1993</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The severe phenotype of human females whose karyotype includes tiny ring X chromosomes has been attributed to the inability of the small ring X chromosome to inactivate. The XIST locus is expressed only from the inactive X chromosome, resides at the putative X inactivation center, and is considered a prime player in the initiation of mammalian X dosage compensation. Using PCR, Southern blot analysis, and in situ hybridization, we have looked for the presence of the XIST locus in tiny ring X chromosomes from eight females who have multiple congenital malformations and severe mental retardation. Our studies reveal heterogeneity within this group; some rings lack the XIST locus, while others have sequences homologous to probes for XIST. However, in the latter, the locus is either not expressed or negligibly expressed, based on reverse transcription-PCR analysis. Therefore, what these tiny ring chromosomes have in common is a level of XIST transcription comparable to an active X. As XIST transcription is an indicator of X chromosome inactivity, the absence of XIST transcription strongly suggests that tiny ring X chromosomes in females with severe phenotypes are mutants in the X chromosome inactivation pathway and that the inability of these rings to inactivate is responsible for the severe phenotypes.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><label>Fig. 1</label><graphic xlink:href="pnas01531-0598-a" xlink:role="12026"></graphic></fig><fig id="F2"><label>Fig. 2</label><graphic xlink:href="pnas01531-0599-a" xlink:role="12027"></graphic></fig><fig id="F3"><label>Fig. 3</label><graphic xlink:href="pnas01531-0599-b" xlink:role="12027"></graphic></fig><fig id="F4"><label>Fig. 4</label><graphic xlink:href="pnas01531-0600-a" xlink:role="12028"></graphic></fig><fig id="F5"><label>Fig. 5</label><graphic xlink:href="pnas01531-0600-b" xlink:role="12028"></graphic></fig></sec></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-title>Proceedings of the National Academy of Sciences of the United States of America</journal-title><issn pub-type="ppub">0027-8424</issn><issn pub-type="epub">1091-6490</issn></journal-meta><article-meta><article-id pub-id-type="pmid">8265665</article-id><article-id pub-id-type="pmc">48118</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Migeon</surname><given-names>B R</given-names></name></contrib><contrib contrib-type="author"><name><surname>Luo</surname><given-names>S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Stasiowski</surname><given-names>B A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Jani</surname><given-names>M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Axelman</surname><given-names>J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Van Dyke</surname><given-names>D L</given-names></name></contrib><contrib contrib-type="author"><name><surname>Weiss</surname><given-names>L</given-names></name></contrib><contrib contrib-type="author"><name><surname>Jacobs</surname><given-names>P A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Yang-Feng</surname><given-names>T L</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wiley</surname><given-names>J E</given-names></name></contrib></contrib-group><aff>Center for Medical Genetics, Johns Hopkins University, Baltimore, MD 21287-3914.</aff><pub-date pub-type="ppub"><day>15</day><month>12</month><year>1993</year></pub-date><volume>90</volume><issue>24</issue><fpage>12025</fpage><lpage>12029</lpage><abstract><p>The severe phenotype of human females whose karyotype includes tiny ring X chromosomes has been attributed to the inability of the small ring X chromosome to inactivate. The XIST locus is expressed only from the inactive X chromosome, resides at the putative X inactivation center, and is considered a prime player in the initiation of mammalian X dosage compensation. Using PCR, Southern blot analysis, and in situ hybridization, we have looked for the presence of the XIST locus in tiny ring X chromosomes from eight females who have multiple congenital malformations and severe mental retardation. Our studies reveal heterogeneity within this group; some rings lack the XIST locus, while others have sequences homologous to probes for XIST. However, in the latter, the locus is either not expressed or negligibly expressed, based on reverse transcription-PCR analysis. Therefore, what these tiny ring chromosomes have in common is a level of XIST transcription comparable to an active X. As XIST transcription is an indicator of X chromosome inactivity, the absence of XIST transcription strongly suggests that tiny ring X chromosomes in females with severe phenotypes are mutants in the X chromosome inactivation pathway and that the inability of these rings to inactivate is responsible for the severe phenotypes.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><label>Fig. 1</label><graphic xlink:href="pnas01531-0598-a" xlink:role="12026"></graphic></fig><fig id="F2"><label>Fig. 2</label><graphic xlink:href="pnas01531-0599-a" xlink:role="12027"></graphic></fig><fig id="F3"><label>Fig. 3</label><graphic xlink:href="pnas01531-0599-b" xlink:role="12027"></graphic></fig><fig id="F4"><label>Fig. 4</label><graphic xlink:href="pnas01531-0600-a" xlink:role="12028"></graphic></fig><fig id="F5"><label>Fig. 5</label><graphic xlink:href="pnas01531-0600-b" xlink:role="12028"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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