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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>MAP3K1</italic> Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination</title><author><name sortKey="Pearlman, Alexander" sort="Pearlman, Alexander" uniqKey="Pearlman A" first="Alexander" last="Pearlman">Alexander Pearlman</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Loke, Johnny" sort="Loke, Johnny" uniqKey="Loke J" first="Johnny" last="Loke">Johnny Loke</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name><affiliation><nlm:aff id="aff2">CHU Nantes, Service de Génétique Medicale, 44093 Nantes, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">INSERM, UMR915, l'Institut du thorax, 44007 Nantes, France</nlm:aff></affiliation></author><author><name sortKey="White, Stefan" sort="White, Stefan" uniqKey="White S" first="Stefan" last="White">Stefan White</name><affiliation><nlm:aff id="aff4">Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Chin, Lisa" sort="Chin, Lisa" uniqKey="Chin L" first="Lisa" last="Chin">Lisa Chin</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Friedman, Andrew" sort="Friedman, Andrew" uniqKey="Friedman A" first="Andrew" last="Friedman">Andrew Friedman</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Warr, Nicholas" sort="Warr, Nicholas" uniqKey="Warr N" first="Nicholas" last="Warr">Nicholas Warr</name><affiliation><nlm:aff id="aff5">MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK</nlm:aff></affiliation></author><author><name sortKey="Willan, John" sort="Willan, John" uniqKey="Willan J" first="John" last="Willan">John Willan</name><affiliation><nlm:aff id="aff5">MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK</nlm:aff></affiliation></author><author><name sortKey="Brauer, David" sort="Brauer, David" uniqKey="Brauer D" first="David" last="Brauer">David Brauer</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Farmer, Charles" sort="Farmer, Charles" uniqKey="Farmer C" first="Charles" last="Farmer">Charles Farmer</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Brooks, Eric" sort="Brooks, Eric" uniqKey="Brooks E" first="Eric" last="Brooks">Eric Brooks</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Oddoux, Carole" sort="Oddoux, Carole" uniqKey="Oddoux C" first="Carole" last="Oddoux">Carole Oddoux</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Riley, Bridget" sort="Riley, Bridget" uniqKey="Riley B" first="Bridget" last="Riley">Bridget Riley</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Shajahan, Shahin" sort="Shajahan, Shahin" uniqKey="Shajahan S" first="Shahin" last="Shajahan">Shahin Shajahan</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Camerino, Giovanna" sort="Camerino, Giovanna" uniqKey="Camerino G" first="Giovanna" last="Camerino">Giovanna Camerino</name><affiliation><nlm:aff id="aff6">Dipartimento di Patologia Umana ed Ereditaria, Università di Pavia, 27100 Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name><affiliation><nlm:aff id="aff7">Clinical Developmental Sciences, Saint George's Hospital Medical School, London SW17 0RE, UK</nlm:aff></affiliation></author><author><name sortKey="Crosby, Andrew H" sort="Crosby, Andrew H" uniqKey="Crosby A" first="Andrew H." last="Crosby">Andrew H. Crosby</name><affiliation><nlm:aff id="aff7">Clinical Developmental Sciences, Saint George's Hospital Medical School, London SW17 0RE, UK</nlm:aff></affiliation></author><author><name sortKey="Couper, Jenny" sort="Couper, Jenny" uniqKey="Couper J" first="Jenny" last="Couper">Jenny Couper</name><affiliation><nlm:aff id="aff8">Department of Diabetes & Endocrinology, Women's & Children's Hospital, Adelaide SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name><affiliation><nlm:aff id="aff2">CHU Nantes, Service de Génétique Medicale, 44093 Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Greenfield, Andy" sort="Greenfield, Andy" uniqKey="Greenfield A" first="Andy" last="Greenfield">Andy Greenfield</name><affiliation><nlm:aff id="aff5">MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK</nlm:aff></affiliation></author><author><name sortKey="Sinclair, Andrew" sort="Sinclair, Andrew" uniqKey="Sinclair A" first="Andrew" last="Sinclair">Andrew Sinclair</name><affiliation><nlm:aff id="aff4">Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Ostrer, Harry" sort="Ostrer, Harry" uniqKey="Ostrer H" first="Harry" last="Ostrer">Harry Ostrer</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21129722</idno><idno type="pmc">2997363</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2997363</idno><idno type="RBID">PMC:2997363</idno><idno type="doi">10.1016/j.ajhg.2010.11.003</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">001222</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001222</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>MAP3K1</italic> Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination</title><author><name sortKey="Pearlman, Alexander" sort="Pearlman, Alexander" uniqKey="Pearlman A" first="Alexander" last="Pearlman">Alexander Pearlman</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Loke, Johnny" sort="Loke, Johnny" uniqKey="Loke J" first="Johnny" last="Loke">Johnny Loke</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name><affiliation><nlm:aff id="aff2">CHU Nantes, Service de Génétique Medicale, 44093 Nantes, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">INSERM, UMR915, l'Institut du thorax, 44007 Nantes, France</nlm:aff></affiliation></author><author><name sortKey="White, Stefan" sort="White, Stefan" uniqKey="White S" first="Stefan" last="White">Stefan White</name><affiliation><nlm:aff id="aff4">Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Chin, Lisa" sort="Chin, Lisa" uniqKey="Chin L" first="Lisa" last="Chin">Lisa Chin</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Friedman, Andrew" sort="Friedman, Andrew" uniqKey="Friedman A" first="Andrew" last="Friedman">Andrew Friedman</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Warr, Nicholas" sort="Warr, Nicholas" uniqKey="Warr N" first="Nicholas" last="Warr">Nicholas Warr</name><affiliation><nlm:aff id="aff5">MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK</nlm:aff></affiliation></author><author><name sortKey="Willan, John" sort="Willan, John" uniqKey="Willan J" first="John" last="Willan">John Willan</name><affiliation><nlm:aff id="aff5">MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK</nlm:aff></affiliation></author><author><name sortKey="Brauer, David" sort="Brauer, David" uniqKey="Brauer D" first="David" last="Brauer">David Brauer</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Farmer, Charles" sort="Farmer, Charles" uniqKey="Farmer C" first="Charles" last="Farmer">Charles Farmer</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Brooks, Eric" sort="Brooks, Eric" uniqKey="Brooks E" first="Eric" last="Brooks">Eric Brooks</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Oddoux, Carole" sort="Oddoux, Carole" uniqKey="Oddoux C" first="Carole" last="Oddoux">Carole Oddoux</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Riley, Bridget" sort="Riley, Bridget" uniqKey="Riley B" first="Bridget" last="Riley">Bridget Riley</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Shajahan, Shahin" sort="Shajahan, Shahin" uniqKey="Shajahan S" first="Shahin" last="Shajahan">Shahin Shajahan</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</nlm:aff></affiliation></author><author><name sortKey="Camerino, Giovanna" sort="Camerino, Giovanna" uniqKey="Camerino G" first="Giovanna" last="Camerino">Giovanna Camerino</name><affiliation><nlm:aff id="aff6">Dipartimento di Patologia Umana ed Ereditaria, Università di Pavia, 27100 Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name><affiliation><nlm:aff id="aff7">Clinical Developmental Sciences, Saint George's Hospital Medical School, London SW17 0RE, UK</nlm:aff></affiliation></author><author><name sortKey="Crosby, Andrew H" sort="Crosby, Andrew H" uniqKey="Crosby A" first="Andrew H." last="Crosby">Andrew H. Crosby</name><affiliation><nlm:aff id="aff7">Clinical Developmental Sciences, Saint George's Hospital Medical School, London SW17 0RE, UK</nlm:aff></affiliation></author><author><name sortKey="Couper, Jenny" sort="Couper, Jenny" uniqKey="Couper J" first="Jenny" last="Couper">Jenny Couper</name><affiliation><nlm:aff id="aff8">Department of Diabetes & Endocrinology, Women's & Children's Hospital, Adelaide SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name><affiliation><nlm:aff id="aff2">CHU Nantes, Service de Génétique Medicale, 44093 Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Greenfield, Andy" sort="Greenfield, Andy" uniqKey="Greenfield A" first="Andy" last="Greenfield">Andy Greenfield</name><affiliation><nlm:aff id="aff5">MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK</nlm:aff></affiliation></author><author><name sortKey="Sinclair, Andrew" sort="Sinclair, Andrew" uniqKey="Sinclair A" first="Andrew" last="Sinclair">Andrew Sinclair</name><affiliation><nlm:aff id="aff4">Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Ostrer, Harry" sort="Ostrer, Harry" uniqKey="Ostrer H" first="Harry" last="Ostrer">Harry Ostrer</name><affiliation><nlm:aff id="aff1">Human Genetics Program, New York University School of Medicine, New York, NY 10016, 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>Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including <italic>SRY, RSPO1, SOX9</italic>, <italic>NR5A1</italic>, <italic>WT1</italic>, <italic>NR0B1</italic>, and <italic>WNT4</italic>. Here, the locus for an autosomal sex-determining gene was mapped via linkage analysis in two families with 46,XY DSD to the long arm of chromosome 5 with a combined, multipoint parametric LOD score of 6.21. A splice-acceptor mutation (c.634-8T>A) in <italic>MAP3K1</italic> segregated with the phenotype in the first family and disrupted RNA splicing. Mutations were demonstrated in the second family (p.Gly616Arg) and in two of 11 sporadic cases (p.Leu189Pro, p.Leu189Arg)—18% prevalence in this cohort of sporadic cases. In cultured primary lymphoblastoid cells from family 1 and the two sporadic cases, these mutations altered the phosphorylation of the downstream targets, p38 and ERK1/2, and enhanced binding of RHOA to the MAP3K1 complex. <italic>Map3k1</italic> within the syntenic region was expressed in the embryonic mouse gonad prior to, and after, sex determination. Thus, mutations in <italic>MAP3K1</italic> that result in 46,XY DSD with partial or complete gonadal dysgenesis implicate this pathway in normal human sex determination.</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">21129722</article-id><article-id pub-id-type="pmc">2997363</article-id><article-id pub-id-type="publisher-id">AJHG792</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2010.11.003</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Mutations in <italic>MAP3K1</italic> Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Pearlman</surname><given-names>Alexander</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Loke</surname><given-names>Johnny</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Le Caignec</surname><given-names>Cedric</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>White</surname><given-names>Stefan</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Chin</surname><given-names>Lisa</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Friedman</surname><given-names>Andrew</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Warr</surname><given-names>Nicholas</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Willan</surname><given-names>John</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Brauer</surname><given-names>David</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Farmer</surname><given-names>Charles</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Brooks</surname><given-names>Eric</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Oddoux</surname><given-names>Carole</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Riley</surname><given-names>Bridget</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Shajahan</surname><given-names>Shahin</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Camerino</surname><given-names>Giovanna</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Homfray</surname><given-names>Tessa</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Crosby</surname><given-names>Andrew H.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Couper</surname><given-names>Jenny</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>David</surname><given-names>Albert</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Greenfield</surname><given-names>Andy</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Sinclair</surname><given-names>Andrew</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Ostrer</surname><given-names>Harry</given-names></name><email>harry.ostrer@nyumc.org</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Human Genetics Program, New York University School of Medicine, New York, NY 10016, USA</aff><aff id="aff2"><label>2</label>CHU Nantes, Service de Génétique Medicale, 44093 Nantes, France</aff><aff id="aff3"><label>3</label>INSERM, UMR915, l'Institut du thorax, 44007 Nantes, France</aff><aff id="aff4"><label>4</label>Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia</aff><aff id="aff5"><label>5</label>MRC Mammalian Genetics Unit, Harwell, OX11 0RD, UK</aff><aff id="aff6"><label>6</label>Dipartimento di Patologia Umana ed Ereditaria, Università di Pavia, 27100 Pavia, Italy</aff><aff id="aff7"><label>7</label>Clinical Developmental Sciences, Saint George's Hospital Medical School, London SW17 0RE, UK</aff><aff id="aff8"><label>8</label>Department of Diabetes & Endocrinology, Women's & Children's Hospital, Adelaide SA 5006, Australia</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>harry.ostrer@nyumc.org</email></corresp></author-notes><pub-date pub-type="ppub"><day>10</day><month>12</month><year>2010</year></pub-date><volume>87</volume><issue>6</issue><fpage>898</fpage><lpage>904</lpage><history><date date-type="received"><day>24</day><month>9</month><year>2010</year></date><date date-type="rev-recd"><day>2</day><month>11</month><year>2010</year></date><date date-type="accepted"><day>9</day><month>11</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></permissions><abstract><p>Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including <italic>SRY, RSPO1, SOX9</italic>, <italic>NR5A1</italic>, <italic>WT1</italic>, <italic>NR0B1</italic>, and <italic>WNT4</italic>. Here, the locus for an autosomal sex-determining gene was mapped via linkage analysis in two families with 46,XY DSD to the long arm of chromosome 5 with a combined, multipoint parametric LOD score of 6.21. A splice-acceptor mutation (c.634-8T>A) in <italic>MAP3K1</italic> segregated with the phenotype in the first family and disrupted RNA splicing. Mutations were demonstrated in the second family (p.Gly616Arg) and in two of 11 sporadic cases (p.Leu189Pro, p.Leu189Arg)—18% prevalence in this cohort of sporadic cases. In cultured primary lymphoblastoid cells from family 1 and the two sporadic cases, these mutations altered the phosphorylation of the downstream targets, p38 and ERK1/2, and enhanced binding of RHOA to the MAP3K1 complex. <italic>Map3k1</italic> within the syntenic region was expressed in the embryonic mouse gonad prior to, and after, sex determination. Thus, mutations in <italic>MAP3K1</italic> that result in 46,XY DSD with partial or complete gonadal dysgenesis implicate this pathway in normal human sex determination.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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