LymphedemaV1, France, Analysis, bibRecord, 000118

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

Identifieur interne : 000118 ( France/Analysis ); précédent : 000117; suivant : 000119

Identification 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.

RBID : PMC:4389788

Abstract

Mutations in the coding sequence of SOX9 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 SOX9 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 SOX9 has been previously reported. The craniofacial regulatory potential within this locus, and within the greater genomic domain surrounding SOX9, remains poorly defined. We report two novel deletions upstream of SOX9 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 SOX9 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 SOX9 expression, and that their disruption results in PRS.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4389788

DOI: 10.1002/humu.22606
PubMed: 24934569
PubMed Central: 4389788

Affiliations:

Links to Exploration step

PMC:4389788

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of novel craniofacial regulatory domains located far upstream of <italic>SOX9</italic>
 and disrupted in Pierre Robin sequence</title>
<author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</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>
</author>
<author><name sortKey="Attanasio, Catia" sort="Attanasio, Catia" uniqKey="Attanasio C" first="Catia" last="Attanasio">Catia Attanasio</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="1"><nlm:aff id="A3">Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Switzerland.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Suisse</country>
<wicri:regionArea>Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne</wicri:regionArea>
<wicri:noRegion>University of Lausanne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bhatia, Shipra" sort="Bhatia, Shipra" uniqKey="Bhatia S" first="Shipra" last="Bhatia">Shipra Bhatia</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="Benko, Sabina" sort="Benko, Sabina" uniqKey="Benko S" first="Sabina" last="Benko">Sabina Benko</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="2"><nlm:aff id="A5">Department of Structural and Chemical Biology, Ichan School of Medicine at Mount Sinai, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Structural and Chemical Biology, Ichan School of Medicine at Mount Sinai, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ansari, Morad" sort="Ansari, Morad" uniqKey="Ansari M" first="Morad" last="Ansari">Morad Ansari</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="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y." last="Tan">Tiong Y. Tan</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne</wicri:regionArea>
<wicri:noRegion>Melbourne</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"><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="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>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">24934569</idno>
<idno type="pmc">4389788</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4389788</idno>
<idno type="RBID">PMC:4389788</idno>
<idno type="doi">10.1002/humu.22606</idno>
<date when="2014">2014</date>
<idno type="wicri:Area/Pmc/Corpus">003935</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003935</idno>
<idno type="wicri:Area/Pmc/Curation">003934</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003934</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001B03</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001B03</idno>
<idno type="wicri:Area/Ncbi/Merge">006758</idno>
<idno type="wicri:Area/Ncbi/Curation">006758</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">006758</idno>
<idno type="wicri:doubleKey">1059-7794:2014:Gordon C:identification:of:novel</idno>
<idno type="wicri:Area/Main/Merge">002A13</idno>
<idno type="wicri:Area/Main/Curation">002A09</idno>
<idno type="wicri:Area/Main/Exploration">002A09</idno>
<idno type="wicri:Area/France/Extraction">000118</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Identification of novel craniofacial regulatory domains located far upstream of <italic>SOX9</italic>
 and disrupted in Pierre Robin sequence</title>
<author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</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>
</author>
<author><name sortKey="Attanasio, Catia" sort="Attanasio, Catia" uniqKey="Attanasio C" first="Catia" last="Attanasio">Catia Attanasio</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="1"><nlm:aff id="A3">Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Switzerland.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Suisse</country>
<wicri:regionArea>Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne</wicri:regionArea>
<wicri:noRegion>University of Lausanne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bhatia, Shipra" sort="Bhatia, Shipra" uniqKey="Bhatia S" first="Shipra" last="Bhatia">Shipra Bhatia</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="Benko, Sabina" sort="Benko, Sabina" uniqKey="Benko S" first="Sabina" last="Benko">Sabina Benko</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="2"><nlm:aff id="A5">Department of Structural and Chemical Biology, Ichan School of Medicine at Mount Sinai, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Structural and Chemical Biology, Ichan School of Medicine at Mount Sinai, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ansari, Morad" sort="Ansari, Morad" uniqKey="Ansari M" first="Morad" last="Ansari">Morad Ansari</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="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y." last="Tan">Tiong Y. Tan</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne</wicri:regionArea>
<wicri:noRegion>Melbourne</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"><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="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>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000118 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000118 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     PMC:4389788
   |texte=   Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i   -Sk "pubmed:24934569" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

Source :

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.