AustralieFrV1, Main, Merge, bibRecord, 007C91

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

Identifieur interne : 007C91 ( Main/Merge ); précédent : 007C90; suivant : 007C92

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

Auteurs : Alexander Pearlman [États-Unis] ; Johnny Loke [États-Unis] ; Cedric Le Caignec [France] ; Stefan White [Australie] ; Lisa Chin [États-Unis] ; Andrew Friedman [États-Unis] ; Nicholas Warr [Royaume-Uni] ; John Willan [Royaume-Uni] ; David Brauer [États-Unis] ; Charles Farmer [États-Unis] ; Eric Brooks [États-Unis] ; Carole Oddoux [États-Unis] ; Bridget Riley [États-Unis] ; Shahin Shajahan [États-Unis] ; Giovanna Camerino [Italie] ; Tessa Homfray [Royaume-Uni] ; Andrew H. Crosby [Royaume-Uni] ; Jenny Couper [Australie] ; Albert David [France] ; Andy Greenfield [Royaume-Uni] ; Andrew Sinclair [Australie] ; Harry Ostrer [États-Unis]

Source :

American journal of human genetics [ 0002-9297 ] ; 2010.

RBID : Pascal:11-0065908

Descripteurs français

Pascal (Inist)
- Mutation, Sexe, Développement, Transduction signal, Homme, Testicule, Génétique.
Wicri :
- topic : Homme, Génétique.

English descriptors

KwdEn :
- Development, Genetics, Human, Mutation, Sex, Signal transduction, Testicle.

Abstract

Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1, and WNT4. 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 MAP3K1 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. Map3k1 within the syntenic region was expressed in the embryonic mouse gonad prior to, and after, sex determination. Thus, mutations in MAP3K1 that result in 46,XY DSD with partial or complete gonadal dysgenesis implicate this pathway in normal human sex determination.

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Pascal:11-0065908

Le document en format XML

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<wicri:noRegion>l'Institut du thorax</wicri:noRegion>
<wicri:noRegion>44007 Nantes</wicri:noRegion>
</affiliation>
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<author><name sortKey="White, Stefan" sort="White, Stefan" uniqKey="White S" first="Stefan" last="White">Stefan White</name>
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<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Human Genetics Program, New York University School of Medicine</s1>
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<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Human Genetics Program, New York University School of Medicine</s1>
<s2>New York, NY 10016</s2>
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<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Human Genetics Program, New York University School of Medicine</s1>
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<author><name sortKey="Oddoux, Carole" sort="Oddoux, Carole" uniqKey="Oddoux C" first="Carole" last="Oddoux">Carole Oddoux</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Human Genetics Program, New York University School of Medicine</s1>
<s2>New York, NY 10016</s2>
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<author><name sortKey="Riley, Bridget" sort="Riley, Bridget" uniqKey="Riley B" first="Bridget" last="Riley">Bridget Riley</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Human Genetics Program, New York University School of Medicine</s1>
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<author><name sortKey="Shajahan, Shahin" sort="Shajahan, Shahin" uniqKey="Shajahan S" first="Shahin" last="Shajahan">Shahin Shajahan</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Human Genetics Program, New York University School of Medicine</s1>
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<author><name sortKey="Camerino, Giovanna" sort="Camerino, Giovanna" uniqKey="Camerino G" first="Giovanna" last="Camerino">Giovanna Camerino</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Dipartimento di Patologia Umana ed Ereditaria, Università di Pavia</s1>
<s2>27100 Pavia</s2>
<s3>ITA</s3>
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<country>Italie</country>
<wicri:noRegion>27100 Pavia</wicri:noRegion>
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<author><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name>
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<country>Royaume-Uni</country>
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<author><name sortKey="Crosby, Andrew H" sort="Crosby, Andrew H" uniqKey="Crosby A" first="Andrew H." last="Crosby">Andrew H. Crosby</name>
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<sZ>16 aut.</sZ>
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<author><name sortKey="Couper, Jenny" sort="Couper, Jenny" uniqKey="Couper J" first="Jenny" last="Couper">Jenny Couper</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Diabetes & Endocrinology, Women's & Children's Hospital</s1>
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<country>Australie</country>
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<author><name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name>
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<country>France</country>
<wicri:noRegion>44093 Nantes</wicri:noRegion>
<wicri:noRegion>Service de Génétique Medicale</wicri:noRegion>
<wicri:noRegion>44093 Nantes</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Greenfield, Andy" sort="Greenfield, Andy" uniqKey="Greenfield A" first="Andy" last="Greenfield">Andy Greenfield</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>MRC Mammalian Genetics Unit</s1>
<s2>Harwell, OX11 0RD</s2>
<s3>GBR</s3>
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<country>Royaume-Uni</country>
<wicri:noRegion>MRC Mammalian Genetics Unit</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sinclair, Andrew" sort="Sinclair, Andrew" uniqKey="Sinclair A" first="Andrew" last="Sinclair">Andrew Sinclair</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne</s1>
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<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>21 aut.</sZ>
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<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Ostrer, Harry" sort="Ostrer, Harry" uniqKey="Ostrer H" first="Harry" last="Ostrer">Harry Ostrer</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Human Genetics Program, New York University School of Medicine</s1>
<s2>New York, NY 10016</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<country>États-Unis</country>
<wicri:noRegion>New York, NY 10016</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Development</term>
<term>Genetics</term>
<term>Human</term>
<term>Mutation</term>
<term>Sex</term>
<term>Signal transduction</term>
<term>Testicle</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term>
<term>Sexe</term>
<term>Développement</term>
<term>Transduction signal</term>
<term>Homme</term>
<term>Testicule</term>
<term>Génétique</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
<term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1, and WNT4. 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 MAP3K1 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. Map3k1 within the syntenic region was expressed in the embryonic mouse gonad prior to, and after, sex determination. Thus, mutations in MAP3K1 that result in 46,XY DSD with partial or complete gonadal dysgenesis implicate this pathway in normal human sex determination.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Italie</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Victoria (État)</li>
</region>
<settlement><li>Melbourne</li>
</settlement>
<orgName><li>Université de Melbourne</li>
</orgName>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Pearlman, Alexander" sort="Pearlman, Alexander" uniqKey="Pearlman A" first="Alexander" last="Pearlman">Alexander Pearlman</name>
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<name sortKey="Brauer, David" sort="Brauer, David" uniqKey="Brauer D" first="David" last="Brauer">David Brauer</name>
<name sortKey="Brooks, Eric" sort="Brooks, Eric" uniqKey="Brooks E" first="Eric" last="Brooks">Eric Brooks</name>
<name sortKey="Chin, Lisa" sort="Chin, Lisa" uniqKey="Chin L" first="Lisa" last="Chin">Lisa Chin</name>
<name sortKey="Farmer, Charles" sort="Farmer, Charles" uniqKey="Farmer C" first="Charles" last="Farmer">Charles Farmer</name>
<name sortKey="Friedman, Andrew" sort="Friedman, Andrew" uniqKey="Friedman A" first="Andrew" last="Friedman">Andrew Friedman</name>
<name sortKey="Loke, Johnny" sort="Loke, Johnny" uniqKey="Loke J" first="Johnny" last="Loke">Johnny Loke</name>
<name sortKey="Oddoux, Carole" sort="Oddoux, Carole" uniqKey="Oddoux C" first="Carole" last="Oddoux">Carole Oddoux</name>
<name sortKey="Ostrer, Harry" sort="Ostrer, Harry" uniqKey="Ostrer H" first="Harry" last="Ostrer">Harry Ostrer</name>
<name sortKey="Riley, Bridget" sort="Riley, Bridget" uniqKey="Riley B" first="Bridget" last="Riley">Bridget Riley</name>
<name sortKey="Shajahan, Shahin" sort="Shajahan, Shahin" uniqKey="Shajahan S" first="Shahin" last="Shajahan">Shahin Shajahan</name>
</country>
<country name="France"><noRegion><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name>
</noRegion>
<name sortKey="David, Albert" sort="David, Albert" uniqKey="David A" first="Albert" last="David">Albert David</name>
<name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cedric" last="Le Caignec">Cedric Le Caignec</name>
</country>
<country name="Australie"><region name="Victoria (État)"><name sortKey="White, Stefan" sort="White, Stefan" uniqKey="White S" first="Stefan" last="White">Stefan White</name>
</region>
<name sortKey="Couper, Jenny" sort="Couper, Jenny" uniqKey="Couper J" first="Jenny" last="Couper">Jenny Couper</name>
<name sortKey="Sinclair, Andrew" sort="Sinclair, Andrew" uniqKey="Sinclair A" first="Andrew" last="Sinclair">Andrew Sinclair</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Warr, Nicholas" sort="Warr, Nicholas" uniqKey="Warr N" first="Nicholas" last="Warr">Nicholas Warr</name>
</noRegion>
<name sortKey="Crosby, Andrew H" sort="Crosby, Andrew H" uniqKey="Crosby A" first="Andrew H." last="Crosby">Andrew H. Crosby</name>
<name sortKey="Greenfield, Andy" sort="Greenfield, Andy" uniqKey="Greenfield A" first="Andy" last="Greenfield">Andy Greenfield</name>
<name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name>
<name sortKey="Willan, John" sort="Willan, John" uniqKey="Willan J" first="John" last="Willan">John Willan</name>
</country>
<country name="Italie"><noRegion><name sortKey="Camerino, Giovanna" sort="Camerino, Giovanna" uniqKey="Camerino G" first="Giovanna" last="Camerino">Giovanna Camerino</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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	Serveur d'exploration sur les relations entre la France et l'Australie
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Serveur d'exploration sur les relations entre la France et l'Australie

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

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