Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
Identifieur interne : 006758 ( Ncbi/Checkpoint ); précédent : 006757; suivant : 006759Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
Auteurs : Christopher T. Gordon [France] ; Catia Attanasio [États-Unis, Suisse] ; Shipra Bhatia [Royaume-Uni] ; Sabina Benko [France, États-Unis] ; Morad Ansari [Royaume-Uni] ; Tiong Y. Tan [Australie] ; Arnold Munnich [France] ; Len A. Pennacchio [États-Unis] ; Véronique Abadie [France] ; I. Karen Temple [Royaume-Uni] ; Alice Goldenberg [France] ; Veronica Van Heyningen [Royaume-Uni] ; Jeanne Amiel [France] ; David Fitzpatrick [Royaume-Uni] ; Dirk A. Kleinjan [Royaume-Uni] ; Axel Visel [États-Unis] ; Stanislas Lyonnet [France]Source :
- Human mutation [ 1059-7794 ] ; 2014.
Abstract
Mutations in the coding sequence of
Url:
DOI: 10.1002/humu.22606
PubMed: 24934569
PubMed Central: 4389788
Affiliations:
- Australie, France, Royaume-Uni, Suisse, États-Unis
- Californie, Haute-Normandie, Région Normandie, Écosse, État de New York, Île-de-France
- Paris, Rouen, Édimbourg
- Université Paris-Descartes, Université d'Édimbourg
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 003935
- to stream Pmc, to step Curation: 003934
- to stream Pmc, to step Checkpoint: 001B03
- to stream Ncbi, to step Merge: 006758
- to stream Ncbi, to step Curation: 006758
Links to Exploration step
PMC:4389788Le document en format XML
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</author>
<author><name sortKey="Pennacchio, Len A" sort="Pennacchio, Len A" uniqKey="Pennacchio L" first="Len A." last="Pennacchio">Len A. Pennacchio</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A8">U.S. Department of Energy Joint Genome Institute, Walnut Creek, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>U.S. Department of Energy Joint Genome Institute, Walnut Creek, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Abadie, Veronique" sort="Abadie, Veronique" uniqKey="Abadie V" first="Véronique" last="Abadie">Véronique Abadie</name>
<affiliation wicri:level="4"><nlm:aff id="A9">Service de Pédiatrie Générale, Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Service de Pédiatrie Générale, Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea>
<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="Temple, I Karen" sort="Temple, I Karen" uniqKey="Temple I" first="I. Karen" last="Temple">I. Karen Temple</name>
<affiliation wicri:level="1"><nlm:aff id="A10">Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton</wicri:regionArea>
<wicri:noRegion>Southampton</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Goldenberg, Alice" sort="Goldenberg, Alice" uniqKey="Goldenberg A" first="Alice" last="Goldenberg">Alice Goldenberg</name>
<affiliation wicri:level="3"><nlm:aff id="A11">Service de Génétique Médicale, CHU Charles Nicolle, Rouen, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Service de Génétique Médicale, CHU Charles Nicolle, Rouen</wicri:regionArea>
<placeName><region type="region">Région Normandie</region>
<region type="old region">Haute-Normandie</region>
<settlement type="city">Rouen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Heyningen, Veronica" sort="Van Heyningen, Veronica" uniqKey="Van Heyningen V" first="Veronica" last="Van Heyningen">Veronica Van Heyningen</name>
<affiliation wicri:level="4"><nlm:aff id="A4">MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh</wicri:regionArea>
<placeName><settlement type="city">Édimbourg</settlement>
<region type="country">Écosse</region>
<settlement type="city">Édimbourg</settlement>
</placeName>
<orgName type="university">Université d'Édimbourg</orgName>
</affiliation>
</author>
<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Université Paris Descartes–Sorbonne Paris Cité, Institut<italic>Imagine</italic>
, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>, INSERM U1163, Paris</wicri:regionArea>
<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"><nlm:aff id="A7">Hôpital Necker-Enfants Malades AP-HP, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Hôpital Necker-Enfants Malades AP-HP, Paris</wicri:regionArea>
<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="Fitzpatrick, David" sort="Fitzpatrick, David" uniqKey="Fitzpatrick D" first="David" last="Fitzpatrick">David Fitzpatrick</name>
<affiliation wicri:level="4"><nlm:aff id="A4">MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh</wicri:regionArea>
<placeName><settlement type="city">Édimbourg</settlement>
<region type="country">Écosse</region>
<settlement type="city">Édimbourg</settlement>
</placeName>
<orgName type="university">Université d'Édimbourg</orgName>
</affiliation>
</author>
<author><name sortKey="Kleinjan, Dirk A" sort="Kleinjan, Dirk A" uniqKey="Kleinjan D" first="Dirk A." last="Kleinjan">Dirk A. Kleinjan</name>
<affiliation wicri:level="4"><nlm:aff id="A4">MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh</wicri:regionArea>
<placeName><settlement type="city">Édimbourg</settlement>
<region type="country">Écosse</region>
<settlement type="city">Édimbourg</settlement>
</placeName>
<orgName type="university">Université d'Édimbourg</orgName>
</affiliation>
</author>
<author><name sortKey="Visel, Axel" sort="Visel, Axel" uniqKey="Visel A" first="Axel" last="Visel">Axel Visel</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A8">U.S. Department of Energy Joint Genome Institute, Walnut Creek, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>U.S. Department of Energy Joint Genome Institute, Walnut Creek, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A12">School of Natural Sciences, University of California, Merced, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>School of Natural Sciences, University of California, Merced, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Université Paris Descartes–Sorbonne Paris Cité, Institut<italic>Imagine</italic>
, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>, INSERM U1163, Paris</wicri:regionArea>
<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"><nlm:aff id="A7">Hôpital Necker-Enfants Malades AP-HP, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Hôpital Necker-Enfants Malades AP-HP, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Human mutation</title>
<idno type="ISSN">1059-7794</idno>
<idno type="eISSN">1098-1004</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Mutations in the coding sequence of <italic>SOX9</italic>
cause campomelic dysplasia (CD), a disorder of skeletal development associated with 46,XY disorders of sex development (DSDs). Translocations, deletions and duplications within a ~2 Mb region upstream of <italic>SOX9</italic>
can recapitulate the CD-DSD phenotype fully or partially, suggesting the existence of an unusually large cis-regulatory control region. Pierre Robin sequence (PRS) is a craniofacial disorder that is frequently an endophenotype of CD and a locus for isolated PRS at ~1.2-1.5 Mb upstream of <italic>SOX9</italic>
has been previously reported. The craniofacial regulatory potential within this locus, and within the greater genomic domain surrounding <italic>SOX9</italic>
, remains poorly defined. We report two novel deletions upstream of <italic>SOX9</italic>
in families with PRS, allowing refinement of the regions harbouring candidate craniofacial regulatory elements. In parallel, ChIP-Seq for p300 binding sites in mouse craniofacial tissue led to the identification of several novel craniofacial enhancers at the <italic>SOX9</italic>
locus, which were validated in transgenic reporter mice and zebrafish. Notably, some of the functionally validated elements fall within the PRS deletions. These studies suggest that multiple non-coding elements contribute to the craniofacial regulation of <italic>SOX9</italic>
expression, and that their disruption results in PRS.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>Suisse</li>
<li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Haute-Normandie</li>
<li>Région Normandie</li>
<li>Écosse</li>
<li>État de New York</li>
<li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
<li>Rouen</li>
<li>Édimbourg</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
<li>Université d'Édimbourg</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</name>
</region>
<name sortKey="Abadie, Veronique" sort="Abadie, Veronique" uniqKey="Abadie V" first="Véronique" last="Abadie">Véronique 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="Benko, Sabina" sort="Benko, Sabina" uniqKey="Benko S" first="Sabina" last="Benko">Sabina Benko</name>
<name sortKey="Goldenberg, Alice" sort="Goldenberg, Alice" uniqKey="Goldenberg A" first="Alice" last="Goldenberg">Alice Goldenberg</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>
</country>
<country name="États-Unis"><region name="Californie"><name sortKey="Attanasio, Catia" sort="Attanasio, Catia" uniqKey="Attanasio C" first="Catia" last="Attanasio">Catia Attanasio</name>
</region>
<name sortKey="Benko, Sabina" sort="Benko, Sabina" uniqKey="Benko S" first="Sabina" last="Benko">Sabina Benko</name>
<name sortKey="Pennacchio, Len A" sort="Pennacchio, Len A" uniqKey="Pennacchio L" first="Len A." last="Pennacchio">Len A. Pennacchio</name>
<name sortKey="Pennacchio, Len A" sort="Pennacchio, Len A" uniqKey="Pennacchio L" first="Len A." last="Pennacchio">Len A. Pennacchio</name>
<name sortKey="Visel, Axel" sort="Visel, Axel" uniqKey="Visel A" first="Axel" last="Visel">Axel Visel</name>
<name sortKey="Visel, Axel" sort="Visel, Axel" uniqKey="Visel A" first="Axel" last="Visel">Axel Visel</name>
<name sortKey="Visel, Axel" sort="Visel, Axel" uniqKey="Visel A" first="Axel" last="Visel">Axel Visel</name>
</country>
<country name="Suisse"><noRegion><name sortKey="Attanasio, Catia" sort="Attanasio, Catia" uniqKey="Attanasio C" first="Catia" last="Attanasio">Catia Attanasio</name>
</noRegion>
</country>
<country name="Royaume-Uni"><region name="Écosse"><name sortKey="Bhatia, Shipra" sort="Bhatia, Shipra" uniqKey="Bhatia S" first="Shipra" last="Bhatia">Shipra Bhatia</name>
</region>
<name sortKey="Ansari, Morad" sort="Ansari, Morad" uniqKey="Ansari M" first="Morad" last="Ansari">Morad Ansari</name>
<name sortKey="Fitzpatrick, David" sort="Fitzpatrick, David" uniqKey="Fitzpatrick D" first="David" last="Fitzpatrick">David Fitzpatrick</name>
<name sortKey="Kleinjan, Dirk A" sort="Kleinjan, Dirk A" uniqKey="Kleinjan D" first="Dirk A." last="Kleinjan">Dirk A. Kleinjan</name>
<name sortKey="Temple, I Karen" sort="Temple, I Karen" uniqKey="Temple I" first="I. Karen" last="Temple">I. Karen Temple</name>
<name sortKey="Van Heyningen, Veronica" sort="Van Heyningen, Veronica" uniqKey="Van Heyningen V" first="Veronica" last="Van Heyningen">Veronica Van Heyningen</name>
</country>
<country name="Australie"><noRegion><name sortKey="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y." last="Tan">Tiong Y. Tan</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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