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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans</title><author><name sortKey="Au, Audrey C" sort="Au, Audrey C" uniqKey="Au A" first="Audrey C." last="Au">Audrey C. Au</name><affiliation><nlm:aff id="aff1">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author><author><name sortKey="Hernandez, Paolo A" sort="Hernandez, Paolo A" uniqKey="Hernandez P" first="Paolo A." last="Hernandez">Paolo A. Hernandez</name><affiliation><nlm:aff id="aff1">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author><author><name sortKey="Lieber, Ernest" sort="Lieber, Ernest" uniqKey="Lieber E" first="Ernest" last="Lieber">Ernest Lieber</name><affiliation><nlm:aff id="aff4">Department of Pediatrics, Lincoln Hospital and Mental Health Center, 234 East 149th Street, Bronx, NY 10451, USA</nlm:aff></affiliation></author><author><name sortKey="Nadroo, Ali M" sort="Nadroo, Ali M" uniqKey="Nadroo A" first="Ali M." last="Nadroo">Ali M. Nadroo</name><affiliation><nlm:aff id="aff5">Department of Pediatrics, New York Methodist Hospital, 506 6th Street, Brooklyn, NY 11215, USA</nlm:aff></affiliation></author><author><name sortKey="Shen, Yu Ming" sort="Shen, Yu Ming" uniqKey="Shen Y" first="Yu-Ming" last="Shen">Yu-Ming Shen</name><affiliation><nlm:aff id="aff1">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author><author><name sortKey="Kelley, Kevin A" sort="Kelley, Kevin A" uniqKey="Kelley K" first="Kevin A." last="Kelley">Kevin A. Kelley</name><affiliation><nlm:aff id="aff3">Department of Developmental & Regenerative Biology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author><author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name><affiliation><nlm:aff id="aff1">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author><author><name sortKey="Diaz, George A" sort="Diaz, George A" uniqKey="Diaz G" first="George A." last="Diaz">George A. Diaz</name><affiliation><nlm:aff id="aff1">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20826270</idno><idno type="pmc">2933336</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2933336</idno><idno type="RBID">PMC:2933336</idno><idno type="doi">10.1016/j.ajhg.2010.08.008</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">001E60</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E60</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans</title><author><name sortKey="Au, Audrey C" sort="Au, Audrey C" uniqKey="Au A" first="Audrey C." last="Au">Audrey C. Au</name><affiliation><nlm:aff id="aff1">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author><author><name sortKey="Hernandez, Paolo A" sort="Hernandez, Paolo A" uniqKey="Hernandez P" first="Paolo A." last="Hernandez">Paolo A. Hernandez</name><affiliation><nlm:aff id="aff1">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author><author><name sortKey="Lieber, Ernest" sort="Lieber, Ernest" uniqKey="Lieber E" first="Ernest" last="Lieber">Ernest Lieber</name><affiliation><nlm:aff id="aff4">Department of Pediatrics, Lincoln Hospital and Mental Health Center, 234 East 149th Street, Bronx, NY 10451, USA</nlm:aff></affiliation></author><author><name sortKey="Nadroo, Ali M" sort="Nadroo, Ali M" uniqKey="Nadroo A" first="Ali M." last="Nadroo">Ali M. Nadroo</name><affiliation><nlm:aff id="aff5">Department of Pediatrics, New York Methodist Hospital, 506 6th Street, Brooklyn, NY 11215, USA</nlm:aff></affiliation></author><author><name sortKey="Shen, Yu Ming" sort="Shen, Yu Ming" uniqKey="Shen Y" first="Yu-Ming" last="Shen">Yu-Ming Shen</name><affiliation><nlm:aff id="aff1">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author><author><name sortKey="Kelley, Kevin A" sort="Kelley, Kevin A" uniqKey="Kelley K" first="Kevin A." last="Kelley">Kevin A. Kelley</name><affiliation><nlm:aff id="aff3">Department of Developmental & Regenerative Biology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author><author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name><affiliation><nlm:aff id="aff1">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author><author><name sortKey="Diaz, George A" sort="Diaz, George A" uniqKey="Diaz G" first="George A." last="Diaz">George A. Diaz</name><affiliation><nlm:aff id="aff1">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The lymphatic vasculature is essential for the recirculation of extracellular fluid, fat absorption, and immune function and as a route of tumor metastasis. The dissection of molecular mechanisms underlying lymphangiogenesis has been accelerated by the identification of tissue-specific lymphatic endothelial markers and the study of congenital lymphedema syndromes. We report the results of genetic analyses of a kindred inheriting a unique autosomal-recessive lymphedema-choanal atresia syndrome. These studies establish linkage of the trait to chromosome 1q32-q41 and identify a loss-of-function mutation in <italic>PTPN14,</italic> which encodes a nonreceptor tyrosine phosphatase. The causal role of <italic>PTPN14</italic> deficiency was confirmed by the generation of a murine <italic>Ptpn14</italic> gene trap model that manifested lymphatic hyperplasia with lymphedema. Biochemical studies revealed a potential interaction between PTPN14 and the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase essential for lymphangiogenesis. These results suggest a unique and conserved role for <italic>PTPN14</italic> in the regulation of lymphatic development in mammals and a nonconserved role in choanal development in humans.</p></div></front></TEI><pmc article-type="brief-report"><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">Am J Hum Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">20826270</article-id><article-id pub-id-type="pmc">2933336</article-id><article-id pub-id-type="publisher-id">AJHG725</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2010.08.008</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Au</surname><given-names>Audrey C.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Hernandez</surname><given-names>Paolo A.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Lieber</surname><given-names>Ernest</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Nadroo</surname><given-names>Ali M.</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Shen</surname><given-names>Yu-Ming</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Kelley</surname><given-names>Kevin A.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Gelb</surname><given-names>Bruce D.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Diaz</surname><given-names>George A.</given-names></name><email>george.diaz@mssm.edu</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</aff><aff id="aff2"><label>2</label>Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</aff><aff id="aff3"><label>3</label>Department of Developmental & Regenerative Biology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA</aff><aff id="aff4"><label>4</label>Department of Pediatrics, Lincoln Hospital and Mental Health Center, 234 East 149th Street, Bronx, NY 10451, USA</aff><aff id="aff5"><label>5</label>Department of Pediatrics, New York Methodist Hospital, 506 6th Street, Brooklyn, NY 11215, USA</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>george.diaz@mssm.edu</email></corresp></author-notes><pub-date pub-type="ppub"><day>10</day><month>9</month><year>2010</year></pub-date><volume>87</volume><issue>3</issue><fpage>436</fpage><lpage>444</lpage><history><date date-type="received"><day>24</day><month>4</month><year>2010</year></date><date date-type="rev-recd"><day>3</day><month>8</month><year>2010</year></date><date date-type="accepted"><day>17</day><month>8</month><year>2010</year></date></history><permissions><copyright-statement>© 2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2010</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder><license><license-p>This document may be redistributed and reused, subject to <ext-link ext-link-type="uri" xlink:href="http://www.elsevier.com/wps/find/authorsview.authors/supplementalterms1.0">certain conditions</ext-link>.</license-p></license></permissions><abstract><p>The lymphatic vasculature is essential for the recirculation of extracellular fluid, fat absorption, and immune function and as a route of tumor metastasis. The dissection of molecular mechanisms underlying lymphangiogenesis has been accelerated by the identification of tissue-specific lymphatic endothelial markers and the study of congenital lymphedema syndromes. We report the results of genetic analyses of a kindred inheriting a unique autosomal-recessive lymphedema-choanal atresia syndrome. These studies establish linkage of the trait to chromosome 1q32-q41 and identify a loss-of-function mutation in <italic>PTPN14,</italic> which encodes a nonreceptor tyrosine phosphatase. The causal role of <italic>PTPN14</italic> deficiency was confirmed by the generation of a murine <italic>Ptpn14</italic> gene trap model that manifested lymphatic hyperplasia with lymphedema. Biochemical studies revealed a potential interaction between PTPN14 and the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase essential for lymphangiogenesis. These results suggest a unique and conserved role for <italic>PTPN14</italic> in the regulation of lymphatic development in mammals and a nonconserved role in choanal development in humans.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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