AustralieFrV1, Main, Exploration, bibRecord, 008293

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Identifieur interne : 008293 ( Main/Exploration ); précédent : 008292; suivant : 008294

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Auteurs : Sabina Benko [France] ; Judy A. Fantes [Royaume-Uni] ; Jeanne Amiel [France] ; Dirk-Jan Kleinjan [Royaume-Uni] ; Sophie Thomas [France] ; Jacqueline Ramsay [Royaume-Uni] ; Negar Jamshidi [Australie] ; Abdelkader Essafi [Royaume-Uni] ; Simon Heaney [Royaume-Uni] ; Christopher T. Gordon [Australie] ; David Mcbride [Royaume-Uni] ; Christelle Golzio [France] ; Malcolm Fisher [Royaume-Uni] ; Paul Perry [Royaume-Uni] ; Veronique Abadie [France] ; Carmen Ayuso [Espagne] ; Muriel Holder-Espinasse [France] ; Nicky Kilpatrick [Australie] ; Melissa M. Lees [Royaume-Uni] ; Arnaud Picard [France] ; I. Karen Temple [Royaume-Uni] ; Paul Thomas [Australie] ; Marie-Paule Vazquez [France] ; Michel Vekemans [France] ; Hugues Roest Crollius [France] ; Nicholas D. Hastie [Royaume-Uni] ; Arnold Munnich [France] ; Heather C. Etchevers [France] ; Anna Pelet [France] ; Peter G. Farlie [Australie] ; David R. Fitzpatrick [Royaume-Uni] ; Stanislas Lyonnet [France]

Source :

Nature genetics [ 1061-4036 ] ; 2009.

RBID : Pascal:09-0136774

Descripteurs français

Pascal (Inist)
- Syndrome de Pierre Robin.

English descriptors

KwdEn :
- Pierre Robin syndrome.

Abstract

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a clustering of translocation breakpoints 1.06-1.23 Mb upstream of SOX9, and microdeletions both ∼ 1.5 Mb centromeric and ∼ 1.5 Mb telomeric of SOX9. We have also identified a heterozygous point mutation in an evolutionarily conserved region of DNA with in vitro and in vivo features of a developmental enhancer. This enhancer is centromeric to the breakpoint cluster and maps within one of the microdeletion regions. The mutation abrogates the in vitro enhancer function and alters binding of the transcription factor MSX1 as compared to the wild-type sequence. In the developing mouse mandible, the 3-Mb region bounded by the microdeletions shows a regionally specific chromatin decompaction in cells expressing Sox9. Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements.

Affiliations:

Links toward previous steps (curation, corpus...)

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Le document en format XML

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<author><name sortKey="Roest Crollius, Hugues" sort="Roest Crollius, Hugues" uniqKey="Roest Crollius H" first="Hugues" last="Roest Crollius">Hugues Roest Crollius</name>
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<author><name sortKey="Hastie, Nicholas D" sort="Hastie, Nicholas D" uniqKey="Hastie N" first="Nicholas D." last="Hastie">Nicholas D. Hastie</name>
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<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
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<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Université Paris Descartes, Faculté de Médecine</s1>
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<author><name sortKey="Etchevers, Heather C" sort="Etchevers, Heather C" uniqKey="Etchevers H" first="Heather C." last="Etchevers">Heather C. Etchevers</name>
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<author><name sortKey="Pelet, Anna" sort="Pelet, Anna" uniqKey="Pelet A" first="Anna" last="Pelet">Anna Pelet</name>
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<author><name sortKey="Farlie, Peter G" sort="Farlie, Peter G" uniqKey="Farlie P" first="Peter G." last="Farlie">Peter G. Farlie</name>
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<author><name sortKey="Fitzpatrick, David R" sort="Fitzpatrick, David R" uniqKey="Fitzpatrick D" first="David R." last="Fitzpatrick">David R. Fitzpatrick</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Medical Research Council Human Genetics Unit (MRC HGU), Institute of Genetic and Molecular Medicine</s1>
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<country>Royaume-Uni</country>
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<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
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<country>France</country>
<placeName><region type="region">Île-de-France</region>
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<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Université Paris Descartes, Faculté de Médecine</s1>
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<settlement type="city">Paris</settlement>
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</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">09-0136774</idno>
<date when="2009">2009</date>
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<idno type="wicri:doubleKey">1061-4036:2009:Benko S:highly:conserved:non</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence</title>
<author><name sortKey="Benko, Sabina" sort="Benko, Sabina" uniqKey="Benko S" first="Sabina" last="Benko">Sabina Benko</name>
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<author><name sortKey="Fantes, Judy A" sort="Fantes, Judy A" uniqKey="Fantes J" first="Judy A." last="Fantes">Judy A. Fantes</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Medical Research Council Human Genetics Unit (MRC HGU), Institute of Genetic and Molecular Medicine</s1>
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<country>Royaume-Uni</country>
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</author>
<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
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</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Assistance Publique-Hopitaux de Paris (AP-HP), Département de Génétique, Hopital Necker-Enfants Malades</s1>
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</author>
<author><name sortKey="Kleinjan, Dirk Jan" sort="Kleinjan, Dirk Jan" uniqKey="Kleinjan D" first="Dirk-Jan" last="Kleinjan">Dirk-Jan Kleinjan</name>
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</author>
<author><name sortKey="Thomas, Sophie" sort="Thomas, Sophie" uniqKey="Thomas S" first="Sophie" last="Thomas">Sophie Thomas</name>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Ramsay, Jacqueline" sort="Ramsay, Jacqueline" uniqKey="Ramsay J" first="Jacqueline" last="Ramsay">Jacqueline Ramsay</name>
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<country>Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Jamshidi, Negar" sort="Jamshidi, Negar" uniqKey="Jamshidi N" first="Negar" last="Jamshidi">Negar Jamshidi</name>
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<country>Australie</country>
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</affiliation>
</author>
<author><name sortKey="Essafi, Abdelkader" sort="Essafi, Abdelkader" uniqKey="Essafi A" first="Abdelkader" last="Essafi">Abdelkader Essafi</name>
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<country>Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Heaney, Simon" sort="Heaney, Simon" uniqKey="Heaney S" first="Simon" last="Heaney">Simon Heaney</name>
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<country>Royaume-Uni</country>
<wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</name>
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<country>Australie</country>
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</affiliation>
</author>
<author><name sortKey="Mcbride, David" sort="Mcbride, David" uniqKey="Mcbride D" first="David" last="Mcbride">David Mcbride</name>
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<country>Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Golzio, Christelle" sort="Golzio, Christelle" uniqKey="Golzio C" first="Christelle" last="Golzio">Christelle Golzio</name>
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<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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</placeName>
</affiliation>
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<author><name sortKey="Fisher, Malcolm" sort="Fisher, Malcolm" uniqKey="Fisher M" first="Malcolm" last="Fisher">Malcolm Fisher</name>
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<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Perry, Paul" sort="Perry, Paul" uniqKey="Perry P" first="Paul" last="Perry">Paul Perry</name>
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<s2>Edinburgh EH4 2XU</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
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<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Abadie, Veronique" sort="Abadie, Veronique" uniqKey="Abadie V" first="Veronique" last="Abadie">Veronique Abadie</name>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Université Paris Descartes, Faculté de Médecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>AP-HP, Service de Pédiatrie, Hôpital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ayuso, Carmen" sort="Ayuso, Carmen" uniqKey="Ayuso C" first="Carmen" last="Ayuso">Carmen Ayuso</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Fundación Jiménez Díaz, Genética</s1>
<s2>Ciberer Madrid</s2>
<s3>ESP</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Ciberer Madrid</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Holder Espinasse, Muriel" sort="Holder Espinasse, Muriel" uniqKey="Holder Espinasse M" first="Muriel" last="Holder-Espinasse">Muriel Holder-Espinasse</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>CHRU de Lille, Hôpital Jeanne de Flandre</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kilpatrick, Nicky" sort="Kilpatrick, Nicky" uniqKey="Kilpatrick N" first="Nicky" last="Kilpatrick">Nicky Kilpatrick</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Murdoch Children's Research Institute, Royal Children's Hospital</s1>
<s2>Parkville</s2>
<s3>AUS</s3>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Parkville</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lees, Melissa M" sort="Lees, Melissa M" uniqKey="Lees M" first="Melissa M." last="Lees">Melissa M. Lees</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>North Thames Regional Genetics Service, Great Ormond Street Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Picard, Arnaud" sort="Picard, Arnaud" uniqKey="Picard A" first="Arnaud" last="Picard">Arnaud Picard</name>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>AP-HP, Service de Chirurgie Maxillo-Faciale et Chirurgie Plastique, Hôpital d'Enfants Armand Trousseau</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Université Pierre et Marie Curie-Paris 6, UFR de Médecine Pierre et Marie Curie</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Temple, I Karen" sort="Temple, I Karen" uniqKey="Temple I" first="I. Karen" last="Temple">I. Karen Temple</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Wessex Clinical Genetics Academic Group, Division of Human Genetics, University of Southampton</s1>
<s2>Southampton</s2>
<s3>GBR</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Southampton</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Thomas, Paul" sort="Thomas, Paul" uniqKey="Thomas P" first="Paul" last="Thomas">Paul Thomas</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Murdoch Children's Research Institute, Royal Children's Hospital</s1>
<s2>Parkville</s2>
<s3>AUS</s3>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Parkville</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vazquez, Marie Paule" sort="Vazquez, Marie Paule" uniqKey="Vazquez M" first="Marie-Paule" last="Vazquez">Marie-Paule Vazquez</name>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>AP-HP, Service de Chirurgie Maxillo-Faciale et Chirurgie Plastique, Hôpital d'Enfants Armand Trousseau</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Université Pierre et Marie Curie-Paris 6, UFR de Médecine Pierre et Marie Curie</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vekemans, Michel" sort="Vekemans, Michel" uniqKey="Vekemans M" first="Michel" last="Vekemans">Michel Vekemans</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U-781, Hôpital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
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<sZ>12 aut.</sZ>
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<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
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</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Assistance Publique-Hopitaux de Paris (AP-HP), Département de Génétique, Hopital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Université Paris Descartes, Faculté de Médecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Roest Crollius, Hugues" sort="Roest Crollius, Hugues" uniqKey="Roest Crollius H" first="Hugues" last="Roest Crollius">Hugues Roest Crollius</name>
<affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Department of Biology, École Normale Supérieure, CNRS UMR-8541</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hastie, Nicholas D" sort="Hastie, Nicholas D" uniqKey="Hastie N" first="Nicholas D." last="Hastie">Nicholas D. Hastie</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Medical Research Council Human Genetics Unit (MRC HGU), Institute of Genetic and Molecular Medicine</s1>
<s2>Edinburgh EH4 2XU</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
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<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U-781, Hôpital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Assistance Publique-Hopitaux de Paris (AP-HP), Département de Génétique, Hopital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Université Paris Descartes, Faculté de Médecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Etchevers, Heather C" sort="Etchevers, Heather C" uniqKey="Etchevers H" first="Heather C." last="Etchevers">Heather C. Etchevers</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U-781, Hôpital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pelet, Anna" sort="Pelet, Anna" uniqKey="Pelet A" first="Anna" last="Pelet">Anna Pelet</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U-781, Hôpital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Farlie, Peter G" sort="Farlie, Peter G" uniqKey="Farlie P" first="Peter G." last="Farlie">Peter G. Farlie</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Murdoch Children's Research Institute, Royal Children's Hospital</s1>
<s2>Parkville</s2>
<s3>AUS</s3>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>22 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Parkville</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fitzpatrick, David R" sort="Fitzpatrick, David R" uniqKey="Fitzpatrick D" first="David R." last="Fitzpatrick">David R. Fitzpatrick</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Medical Research Council Human Genetics Unit (MRC HGU), Institute of Genetic and Molecular Medicine</s1>
<s2>Edinburgh EH4 2XU</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM U-781, Hôpital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Assistance Publique-Hopitaux de Paris (AP-HP), Département de Génétique, Hopital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Université Paris Descartes, Faculté de Médecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
<imprint><date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Pierre Robin syndrome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Syndrome de Pierre Robin</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a clustering of translocation breakpoints 1.06-1.23 Mb upstream of SOX9, and microdeletions both ∼ 1.5 Mb centromeric and ∼ 1.5 Mb telomeric of SOX9. We have also identified a heterozygous point mutation in an evolutionarily conserved region of DNA with in vitro and in vivo features of a developmental enhancer. This enhancer is centromeric to the breakpoint cluster and maps within one of the microdeletion regions. The mutation abrogates the in vitro enhancer function and alters binding of the transcription factor MSX1 as compared to the wild-type sequence. In the developing mouse mandible, the 3-Mb region bounded by the microdeletions shows a regionally specific chromatin decompaction in cells expressing Sox9. Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Espagne</li>
<li>France</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
<li>Hauts-de-France</li>
<li>Nord-Pas-de-Calais</li>
<li>Île-de-France</li>
</region>
<settlement><li>Lille</li>
<li>Londres</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Benko, Sabina" sort="Benko, Sabina" uniqKey="Benko S" first="Sabina" last="Benko">Sabina Benko</name>
</region>
<name sortKey="Abadie, Veronique" sort="Abadie, Veronique" uniqKey="Abadie V" first="Veronique" last="Abadie">Veronique Abadie</name>
<name sortKey="Abadie, Veronique" sort="Abadie, Veronique" uniqKey="Abadie V" first="Veronique" last="Abadie">Veronique Abadie</name>
<name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<name sortKey="Etchevers, Heather C" sort="Etchevers, Heather C" uniqKey="Etchevers H" first="Heather C." last="Etchevers">Heather C. Etchevers</name>
<name sortKey="Golzio, Christelle" sort="Golzio, Christelle" uniqKey="Golzio C" first="Christelle" last="Golzio">Christelle Golzio</name>
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<name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<name sortKey="Pelet, Anna" sort="Pelet, Anna" uniqKey="Pelet A" first="Anna" last="Pelet">Anna Pelet</name>
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<name sortKey="Picard, Arnaud" sort="Picard, Arnaud" uniqKey="Picard A" first="Arnaud" last="Picard">Arnaud Picard</name>
<name sortKey="Roest Crollius, Hugues" sort="Roest Crollius, Hugues" uniqKey="Roest Crollius H" first="Hugues" last="Roest Crollius">Hugues Roest Crollius</name>
<name sortKey="Thomas, Sophie" sort="Thomas, Sophie" uniqKey="Thomas S" first="Sophie" last="Thomas">Sophie Thomas</name>
<name sortKey="Vazquez, Marie Paule" sort="Vazquez, Marie Paule" uniqKey="Vazquez M" first="Marie-Paule" last="Vazquez">Marie-Paule Vazquez</name>
<name sortKey="Vazquez, Marie Paule" sort="Vazquez, Marie Paule" uniqKey="Vazquez M" first="Marie-Paule" last="Vazquez">Marie-Paule Vazquez</name>
<name sortKey="Vekemans, Michel" sort="Vekemans, Michel" uniqKey="Vekemans M" first="Michel" last="Vekemans">Michel Vekemans</name>
<name sortKey="Vekemans, Michel" sort="Vekemans, Michel" uniqKey="Vekemans M" first="Michel" last="Vekemans">Michel Vekemans</name>
<name sortKey="Vekemans, Michel" sort="Vekemans, Michel" uniqKey="Vekemans M" first="Michel" last="Vekemans">Michel Vekemans</name>
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<country name="Royaume-Uni"><noRegion><name sortKey="Fantes, Judy A" sort="Fantes, Judy A" uniqKey="Fantes J" first="Judy A." last="Fantes">Judy A. Fantes</name>
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<name sortKey="Fitzpatrick, David R" sort="Fitzpatrick, David R" uniqKey="Fitzpatrick D" first="David R." last="Fitzpatrick">David R. Fitzpatrick</name>
<name sortKey="Hastie, Nicholas D" sort="Hastie, Nicholas D" uniqKey="Hastie N" first="Nicholas D." last="Hastie">Nicholas D. Hastie</name>
<name sortKey="Heaney, Simon" sort="Heaney, Simon" uniqKey="Heaney S" first="Simon" last="Heaney">Simon Heaney</name>
<name sortKey="Kleinjan, Dirk Jan" sort="Kleinjan, Dirk Jan" uniqKey="Kleinjan D" first="Dirk-Jan" last="Kleinjan">Dirk-Jan Kleinjan</name>
<name sortKey="Lees, Melissa M" sort="Lees, Melissa M" uniqKey="Lees M" first="Melissa M." last="Lees">Melissa M. Lees</name>
<name sortKey="Mcbride, David" sort="Mcbride, David" uniqKey="Mcbride D" first="David" last="Mcbride">David Mcbride</name>
<name sortKey="Perry, Paul" sort="Perry, Paul" uniqKey="Perry P" first="Paul" last="Perry">Paul Perry</name>
<name sortKey="Ramsay, Jacqueline" sort="Ramsay, Jacqueline" uniqKey="Ramsay J" first="Jacqueline" last="Ramsay">Jacqueline Ramsay</name>
<name sortKey="Temple, I Karen" sort="Temple, I Karen" uniqKey="Temple I" first="I. Karen" last="Temple">I. Karen Temple</name>
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<country name="Australie"><noRegion><name sortKey="Jamshidi, Negar" sort="Jamshidi, Negar" uniqKey="Jamshidi N" first="Negar" last="Jamshidi">Negar Jamshidi</name>
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<name sortKey="Farlie, Peter G" sort="Farlie, Peter G" uniqKey="Farlie P" first="Peter G." last="Farlie">Peter G. Farlie</name>
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<name sortKey="Kilpatrick, Nicky" sort="Kilpatrick, Nicky" uniqKey="Kilpatrick N" first="Nicky" last="Kilpatrick">Nicky Kilpatrick</name>
<name sortKey="Thomas, Paul" sort="Thomas, Paul" uniqKey="Thomas P" first="Paul" last="Thomas">Paul Thomas</name>
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<country name="Espagne"><noRegion><name sortKey="Ayuso, Carmen" sort="Ayuso, Carmen" uniqKey="Ayuso C" first="Carmen" last="Ayuso">Carmen Ayuso</name>
</noRegion>
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   |texte=   Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
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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

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

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