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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR<sup>–</sup> B cells
</title><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation><nlm:aff id="JCI71927">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Wang, Yong Dong" sort="Wang, Yong Dong" uniqKey="Wang Y" first="Yong-Dong" last="Wang">Yong-Dong Wang</name><affiliation><nlm:aff wicri:cut=" and" id="JCI71927">Department of Bioinformatics and Biotechnology</nlm:aff></affiliation></author><author><name sortKey="Bosompem, Amma" sort="Bosompem, Amma" uniqKey="Bosompem A" first="Amma" last="Bosompem">Amma Bosompem</name><affiliation><nlm:aff id="JCI71927">Department of Immunology, St. Jude Children’s Research Hospital, Memphis, Tennessee, USA.</nlm:aff></affiliation></author><author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S." last="Ma">Cindy S. Ma</name><affiliation><nlm:aff id="JCI71927">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, Australia, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Lim, Annick" sort="Lim, Annick" uniqKey="Lim A" first="Annick" last="Lim">Annick Lim</name><affiliation><nlm:aff id="JCI71927">Department of Immunology, Pasteur Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Kochetkov, Tatiana" sort="Kochetkov, Tatiana" uniqKey="Kochetkov T" first="Tatiana" last="Kochetkov">Tatiana Kochetkov</name><affiliation><nlm:aff id="JCI71927">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><affiliation><nlm:aff id="JCI71927">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, Australia, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="JCI71927">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI71927">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980, Necker Medical School, Université Paris Descartes, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name><affiliation><nlm:aff id="JCI71927">Department of Immunology, St. Jude Children’s Research Hospital, Memphis, Tennessee, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI71927">Department of Pediatrics, University of Tennessee College of Medicine, Memphis, Tennessee, USA.</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24216514</idno><idno type="pmc">3809807</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809807</idno><idno type="RBID">PMC:3809807</idno><idno type="doi">10.1172/JCI71927</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001925</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001925</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR<sup>–</sup> B cells
</title><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation><nlm:aff id="JCI71927">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Wang, Yong Dong" sort="Wang, Yong Dong" uniqKey="Wang Y" first="Yong-Dong" last="Wang">Yong-Dong Wang</name><affiliation><nlm:aff wicri:cut=" and" id="JCI71927">Department of Bioinformatics and Biotechnology</nlm:aff></affiliation></author><author><name sortKey="Bosompem, Amma" sort="Bosompem, Amma" uniqKey="Bosompem A" first="Amma" last="Bosompem">Amma Bosompem</name><affiliation><nlm:aff id="JCI71927">Department of Immunology, St. Jude Children’s Research Hospital, Memphis, Tennessee, USA.</nlm:aff></affiliation></author><author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S." last="Ma">Cindy S. Ma</name><affiliation><nlm:aff id="JCI71927">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, Australia, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Lim, Annick" sort="Lim, Annick" uniqKey="Lim A" first="Annick" last="Lim">Annick Lim</name><affiliation><nlm:aff id="JCI71927">Department of Immunology, Pasteur Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Kochetkov, Tatiana" sort="Kochetkov, Tatiana" uniqKey="Kochetkov T" first="Tatiana" last="Kochetkov">Tatiana Kochetkov</name><affiliation><nlm:aff id="JCI71927">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><affiliation><nlm:aff id="JCI71927">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, Australia, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="JCI71927">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI71927">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980, Necker Medical School, Université Paris Descartes, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name><affiliation><nlm:aff id="JCI71927">Department of Immunology, St. Jude Children’s Research Hospital, Memphis, Tennessee, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI71927">Department of Pediatrics, University of Tennessee College of Medicine, Memphis, Tennessee, USA.</nlm:aff></affiliation></author></analytic><series><title level="j">The Journal of Clinical Investigation</title><idno type="ISSN">0021-9738</idno><idno type="eISSN">1558-8238</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Approximately 90% of patients with isolated agammaglobulinemia and failure of B cell development have mutations in genes required for signaling through the pre–B cell and B cell receptors. The nature of the gene defect in the majority of remaining patients is unknown. We recently identified 4 patients with agammaglobulinemia and markedly decreased numbers of peripheral B cells. The B cells that could be detected had an unusual phenotype characterized by the increased expression of CD19 but the absence of a B cell receptor. Genetic studies demonstrated that all 4 patients had the exact same de novo mutation in the broadly expressed transcription factor E47. The mutant protein (E555K) was stable in patient-derived EBV-transformed cell lines and cell lines transfected with expression vectors. E555K in the transfected cells localized normally to the nucleus and resulted in a dominant negative effect when bound to DNA as a homodimer with wild-type E47. Mutant E47 did permit DNA binding by a tissue-specific heterodimeric DNA-binding partner, myogenic differentiation 1 (MYOD). These findings document a mutational hot-spot in E47 and represent an autosomal dominant form of agammaglobulinemia. Further, they indicate that E47 plays a critical role in enforcing the block in development of B cell precursors that lack functional antigen receptors.</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">J Clin Invest</journal-id><journal-id journal-id-type="iso-abbrev">J. Clin. Invest</journal-id><journal-id journal-id-type="publisher-id">J CLIN INVEST</journal-id><journal-title-group><journal-title>The Journal of Clinical Investigation</journal-title></journal-title-group><issn pub-type="ppub">0021-9738</issn><issn pub-type="epub">1558-8238</issn><publisher><publisher-name>American Society for Clinical Investigation</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24216514</article-id><article-id pub-id-type="pmc">3809807</article-id><article-id pub-id-type="publisher-id">71927</article-id><article-id pub-id-type="doi">10.1172/JCI71927</article-id><article-categories><subj-group subj-group-type="heading"><subject>Brief Report</subject></subj-group></article-categories><title-group><article-title>A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR<sup>–</sup> B cells
</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Boisson</surname><given-names>Bertrand</given-names></name><xref ref-type="aff" rid="JCI71927">1</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Yong-Dong</given-names></name><xref ref-type="aff" rid="JCI71927">2</xref></contrib><contrib contrib-type="author"><name><surname>Bosompem</surname><given-names>Amma</given-names></name><xref ref-type="aff" rid="JCI71927">3</xref></contrib><contrib contrib-type="author"><name><surname>Ma</surname><given-names>Cindy S.</given-names></name><xref ref-type="aff" rid="JCI71927">4</xref></contrib><contrib contrib-type="author"><name><surname>Lim</surname><given-names>Annick</given-names></name><xref ref-type="aff" rid="JCI71927">5</xref></contrib><contrib contrib-type="author"><name><surname>Kochetkov</surname><given-names>Tatiana</given-names></name><xref ref-type="aff" rid="JCI71927">1</xref></contrib><contrib contrib-type="author"><name><surname>Tangye</surname><given-names>Stuart G.</given-names></name><xref ref-type="aff" rid="JCI71927">4</xref></contrib><contrib contrib-type="author"><name><surname>Casanova</surname><given-names>Jean-Laurent</given-names></name><xref ref-type="aff" rid="JCI71927">1</xref><xref ref-type="aff" rid="JCI71927">6</xref></contrib><contrib contrib-type="author"><name><surname>Conley</surname><given-names>Mary Ellen</given-names></name><xref ref-type="aff" rid="JCI71927">3</xref><xref ref-type="aff" rid="JCI71927">7</xref></contrib></contrib-group><aff id="JCI71927"><label>1</label>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.<label>2</label>Department of Bioinformatics and Biotechnology and<label>3</label>Department of Immunology, St. Jude Children’s Research Hospital, Memphis, Tennessee, USA.<label>4</label>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, Australia, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.<label>5</label>Department of Immunology, Pasteur Institute, Paris, France.<label>6</label>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980, Necker Medical School, Université Paris Descartes, Paris, France.<label>7</label>Department of Pediatrics, University of Tennessee College of Medicine, Memphis, Tennessee, USA.</aff><author-notes><corresp>Address correspondence to: Mary Ellen Conley, Department of Pediatrics, University of Tennessee College of Medicine, 50 N. Dulap St. (Rm. 304R), Memphis, Tennessee 38103, USA. Phone: 901.287.4657; Fax: 901.287.4551; E-mail:
<email>mconley@uthsc.edu</email>.
</corresp></author-notes><pub-date pub-type="epub"><day>15</day><month>10</month><year>2013</year></pub-date><pub-date pub-type="ppub"><day>1</day><month>11</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>15</day><month>10</month><year>2013</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>123</volume><issue>11</issue><fpage>4781</fpage><lpage>4785</lpage><history><date date-type="received"><day>2</day><month>7</month><year>2013</year></date><date date-type="accepted"><day>9</day><month>8</month><year>2013</year></date></history><permissions><copyright-statement>Copyright © 2013, American Society for Clinical Investigation</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><p>Approximately 90% of patients with isolated agammaglobulinemia and failure of B cell development have mutations in genes required for signaling through the pre–B cell and B cell receptors. The nature of the gene defect in the majority of remaining patients is unknown. We recently identified 4 patients with agammaglobulinemia and markedly decreased numbers of peripheral B cells. The B cells that could be detected had an unusual phenotype characterized by the increased expression of CD19 but the absence of a B cell receptor. Genetic studies demonstrated that all 4 patients had the exact same de novo mutation in the broadly expressed transcription factor E47. The mutant protein (E555K) was stable in patient-derived EBV-transformed cell lines and cell lines transfected with expression vectors. E555K in the transfected cells localized normally to the nucleus and resulted in a dominant negative effect when bound to DNA as a homodimer with wild-type E47. Mutant E47 did permit DNA binding by a tissue-specific heterodimeric DNA-binding partner, myogenic differentiation 1 (MYOD). These findings document a mutational hot-spot in E47 and represent an autosomal dominant form of agammaglobulinemia. Further, they indicate that E47 plays a critical role in enforcing the block in development of B cell precursors that lack functional antigen receptors.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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