Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation
Identifieur interne : 00A824 ( Main/Exploration ); précédent : 00A823; suivant : 00A825Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation
Auteurs : Lars Riff Jensen [Allemagne] ; Marion Amende [Allemagne] ; Ulf Gurok [Allemagne] ; Bettina Moser [Allemagne] ; Verena Gimmel [Allemagne] ; Andreas Tzschach [Allemagne] ; Andreas R. Janecke ; Gholamali Tariverdian ; Jamel Chelly [France] ; Jean-Pierre Fryns [Belgique] ; Hilde Van Esch [Belgique] ; Tjitske Kleefstra [Pays-Bas] ; Ben Hamel [Pays-Bas] ; Claude Moraine [France] ; Jozef Gécz ; Gillian Turner [Australie] ; Richard Reinhardt [Allemagne] ; Vera M. Kalscheuer [Allemagne] ; Hans-Hilger Ropers [Allemagne] ; Steffen Lenzner [Allemagne]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2004.
Abstract
In families with nonsyndromic X-linked mental retardation (NS-XLMR), >30% of mutations seem to cluster on proximal Xp and in the pericentric region. In a systematic screen of brain-expressed genes from this region in 210 families with XLMR, we identified seven different mutations in
Url:
PubMed: 15586325
PubMed Central: 1196368
Affiliations:
- Allemagne, Australie, Belgique, France, Pays-Bas
- Berlin, Centre-Val de Loire, Gueldre, Région Centre, Île-de-France
- Berlin, Nimègue, Paris, Tours
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in the <italic>JARID1C</italic> Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation</title><author><name sortKey="Jensen, Lars Riff" sort="Jensen, Lars Riff" uniqKey="Jensen L" first="Lars Riff" last="Jensen">Lars Riff Jensen</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Amende, Marion" sort="Amende, Marion" uniqKey="Amende M" first="Marion" last="Amende">Marion Amende</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Gurok, Ulf" sort="Gurok, Ulf" uniqKey="Gurok U" first="Ulf" last="Gurok">Ulf Gurok</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Gimmel, Verena" sort="Gimmel, Verena" uniqKey="Gimmel V" first="Verena" last="Gimmel">Verena Gimmel</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R." last="Janecke">Andreas R. Janecke</name><affiliation><nlm:aff id="N0x91eb288.0x95de778">Department of Medical Biology and Human Genetics, Innsbruck Medical University, Innsbruck;</nlm:aff><wicri:noCountry code="subfield">Innsbruck</wicri:noCountry></affiliation></author><author><name sortKey="Tariverdian, Gholamali" sort="Tariverdian, Gholamali" uniqKey="Tariverdian G" first="Gholamali" last="Tariverdian">Gholamali Tariverdian</name><affiliation><nlm:aff id="N0x91eb288.0x95de778">Institute for Human Genetics, University Heidelberg, Heidelberg;</nlm:aff><wicri:noCountry code="subfield">Heidelberg</wicri:noCountry></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Institut Cochin de Génétique Moleculaire, CNRS/INSERM, CHU Cochin, Paris;</nlm:aff><country>France</country><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName><wicri:orgArea>Institut Cochin de Génétique Moleculaire, CNRS/INSERM, CHU Cochin</wicri:orgArea></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation wicri:level="1"><nlm:aff id="N0x91eb288.0x95de778">Center for Human Genetics, Clinical Genetics Unit, Leuven, Belgium;</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, Clinical Genetics Unit, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><nlm:aff id="N0x91eb288.0x95de778">Center for Human Genetics, Clinical Genetics Unit, Leuven, Belgium;</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, Clinical Genetics Unit, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, University Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, University Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Services de Génétique-INSERM U316, CHU Bretonneau, Tours, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Services de Génétique-INSERM U316, CHU Bretonneau, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gécz">Jozef Gécz</name><affiliation><nlm:aff wicri:cut="; and" id="N0x91eb288.0x95de778">Women’s and Children’s Hospital and the University of Adelaide, Adelaide</nlm:aff><wicri:noCountry code="subfield">Adelaide</wicri:noCountry></affiliation></author><author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name><affiliation wicri:level="1"><nlm:aff id="N0x91eb288.0x95de778">Genetics of Learning Disability (GOLD) Service, Hunter Genetics, University of Newcastle, New South Wales, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics of Learning Disability (GOLD) Service, Hunter Genetics, University of Newcastle, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">15586325</idno><idno type="pmc">1196368</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196368</idno><idno type="RBID">PMC:1196368</idno><date when="2004">2004</date><idno type="wicri:Area/Pmc/Corpus">000036</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000036</idno><idno type="wicri:Area/Pmc/Curation">000036</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000036</idno><idno 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Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Amende, Marion" sort="Amende, Marion" uniqKey="Amende M" first="Marion" last="Amende">Marion Amende</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Gurok, Ulf" sort="Gurok, Ulf" uniqKey="Gurok U" first="Ulf" last="Gurok">Ulf Gurok</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Gimmel, Verena" sort="Gimmel, Verena" uniqKey="Gimmel V" first="Verena" last="Gimmel">Verena Gimmel</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R." last="Janecke">Andreas R. Janecke</name><affiliation><nlm:aff id="N0x91eb288.0x95de778">Department of Medical Biology and Human Genetics, Innsbruck Medical University, Innsbruck;</nlm:aff><wicri:noCountry code="subfield">Innsbruck</wicri:noCountry></affiliation></author><author><name sortKey="Tariverdian, Gholamali" sort="Tariverdian, Gholamali" uniqKey="Tariverdian G" first="Gholamali" last="Tariverdian">Gholamali Tariverdian</name><affiliation><nlm:aff id="N0x91eb288.0x95de778">Institute for Human Genetics, University Heidelberg, Heidelberg;</nlm:aff><wicri:noCountry code="subfield">Heidelberg</wicri:noCountry></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Institut Cochin de Génétique Moleculaire, CNRS/INSERM, CHU Cochin, Paris;</nlm:aff><country>France</country><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName><wicri:orgArea>Institut Cochin de Génétique Moleculaire, CNRS/INSERM, CHU Cochin</wicri:orgArea></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation wicri:level="1"><nlm:aff id="N0x91eb288.0x95de778">Center for Human Genetics, Clinical Genetics Unit, Leuven, Belgium;</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, Clinical Genetics Unit, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><nlm:aff id="N0x91eb288.0x95de778">Center for Human Genetics, Clinical Genetics Unit, Leuven, Belgium;</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, Clinical Genetics Unit, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, University Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, University Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Services de Génétique-INSERM U316, CHU Bretonneau, Tours, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Services de Génétique-INSERM U316, CHU Bretonneau, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gécz">Jozef Gécz</name><affiliation><nlm:aff wicri:cut="; and" id="N0x91eb288.0x95de778">Women’s and Children’s Hospital and the University of Adelaide, Adelaide</nlm:aff><wicri:noCountry code="subfield">Adelaide</wicri:noCountry></affiliation></author><author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name><affiliation wicri:level="1"><nlm:aff id="N0x91eb288.0x95de778">Genetics of Learning Disability (GOLD) Service, Hunter Genetics, University of Newcastle, New South Wales, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics of Learning Disability (GOLD) Service, Hunter Genetics, University of Newcastle, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author><author><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name><affiliation wicri:level="3"><nlm:aff id="N0x91eb288.0x95de778">Max Planck Institute for Molecular Genetics, Berlin;</nlm:aff><country>Allemagne</country><placeName><settlement type="city">Berlin</settlement><region type="land" nuts="2">Berlin</region></placeName><wicri:orgArea>Max Planck Institute for Molecular Genetics</wicri:orgArea></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2004">2004</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>In families with nonsyndromic X-linked mental retardation (NS-XLMR), >30% of mutations seem to cluster on proximal Xp and in the pericentric region. In a systematic screen of brain-expressed genes from this region in 210 families with XLMR, we identified seven different mutations in <italic>JARID1C,</italic> including one frameshift mutation and two nonsense mutations that introduce premature stop codons, as well as four missense mutations that alter evolutionarily conserved amino acids. In two of these families, expression studies revealed the almost complete absence of the mutated <italic>JARID1C</italic> transcript, suggesting that the phenotype in these families results from functional loss of the JARID1C protein. <italic>JARID1C</italic> (Jumonji AT-rich interactive domain 1C), formerly known as “<italic>SMCX,</italic>” is highly similar to the Y-chromosomal gene <italic>JARID1D/SMCY,</italic> which encodes the H-Y antigen. The JARID1C protein belongs to the highly conserved ARID protein family. It contains several DNA-binding motifs that link it to transcriptional regulation and chromatin remodeling, processes that are defective in various other forms of mental retardation. Our results suggest that <italic>JARID1C</italic> mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function.</p></div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Pays-Bas</li></country><region><li>Berlin</li><li>Centre-Val de Loire</li><li>Gueldre</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Berlin</li><li>Nimègue</li><li>Paris</li><li>Tours</li></settlement></list><tree><noCountry><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gécz">Jozef Gécz</name><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R." last="Janecke">Andreas R. Janecke</name><name sortKey="Tariverdian, Gholamali" sort="Tariverdian, Gholamali" uniqKey="Tariverdian G" first="Gholamali" last="Tariverdian">Gholamali Tariverdian</name></noCountry><country name="Allemagne"><region name="Berlin"><name sortKey="Jensen, Lars Riff" sort="Jensen, Lars Riff" uniqKey="Jensen L" first="Lars Riff" last="Jensen">Lars Riff Jensen</name></region><name sortKey="Amende, Marion" sort="Amende, Marion" uniqKey="Amende M" first="Marion" last="Amende">Marion Amende</name><name sortKey="Gimmel, Verena" sort="Gimmel, Verena" uniqKey="Gimmel V" first="Verena" last="Gimmel">Verena Gimmel</name><name sortKey="Gurok, Ulf" sort="Gurok, Ulf" uniqKey="Gurok U" first="Ulf" last="Gurok">Ulf Gurok</name><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M." last="Kalscheuer">Vera M. Kalscheuer</name><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name></country><country name="France"><region name="Île-de-France"><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name></region><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name></country><country name="Belgique"><noRegion><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name></noRegion><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name></region><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name></country><country name="Australie"><noRegion><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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