AustralieFrV1, Main, Exploration, bibRecord, 00A535

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Identifieur interne : 00A535 ( Main/Exploration ); précédent : 00A534; suivant : 00A536

Mutations 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 [Autriche] ; Gholamali Tariverdian [Allemagne] ; Jamel Chelly [France] ; Jean-Pierre Fryns [Belgique] ; Hilde Van Esch [Belgique] ; Tjitske Kleefstra [Pays-Bas] ; Ben Hamel [Pays-Bas] ; Claude Moraine [France] ; Jozef Gecz [Australie] ; 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 ] ; 2005.

RBID : Pascal:05-0228119

Descripteurs français

Pascal (Inist)
- Arriération mentale, Mutation, Gène, Transcription, Régulation, Chromatine, Chromosome X, Remodelage vasculaire, Maladie héréditaire, Caractère lié au sexe, Génétique, Homme.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Chromatin, Gene, Genetic disease, Genetics, Human, Mental retardation, Mutation, Regulation(control), Sex linked character, Transcription, Vascular remodeling, X-Chromosome.

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 JARID1C, 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 JARID1C transcript, suggesting that the phenotype in these families results from functional loss of the JARID1C protein. JARID1C (Jumonji AT-rich interactive domain 1C), formerly known as "SMCX," is highly similar to the Y-chromosomal gene JARID1D/SMCY, 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 JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function.

Affiliations:

Allemagne, Australie, Autriche, Belgique, France, Pays-Bas
Bade-Wurtemberg, Berlin, Centre-Val de Loire, District de Karlsruhe, Gueldre, Région Centre, Île-de-France
Berlin, Heidelberg, Nimègue, Paris, Tours

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

to stream PascalFrancis, to step Corpus: 004966
to stream PascalFrancis, to step Curation: 001737
to stream PascalFrancis, to step Checkpoint: 004488
to stream Main, to step Merge: 00B138
to stream Main, to step Curation: 00A535

Le document en format XML

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<author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max Planck Institute for Molecular Genetics</s1>
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<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R." last="Janecke">Andreas R. Janecke</name>
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<country>Autriche</country>
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</author>
<author><name sortKey="Tariverdian, Gholamali" sort="Tariverdian, Gholamali" uniqKey="Tariverdian G" first="Gholamali" last="Tariverdian">Gholamali Tariverdian</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Institute for Human Genetics, University Heidelberg</s1>
<s2>Heidelberg</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Karlsruhe</region>
<settlement type="city">Heidelberg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Institut Cochin de Génétique Moleculaire, CNRS/INSERM, CHU Cochin</s1>
<s2>Paris</s2>
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<sZ>9 aut.</sZ>
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<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="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Center for Human Genetics, Clinical Genetics Unit</s1>
<s2>Leuven</s2>
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<country>Belgique</country>
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</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"><inist:fA14 i1="05"><s1>Center for Human Genetics, Clinical Genetics Unit</s1>
<s2>Leuven</s2>
<s3>BEL</s3>
<sZ>10 aut.</sZ>
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<country>Belgique</country>
<wicri:noRegion>Leuven</wicri:noRegion>
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</author>
<author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Human Genetics, University Medical Centre</s1>
<s2>Nijmegen</s2>
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<country>Pays-Bas</country>
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<author><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name>
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<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>12 aut.</sZ>
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<country>Pays-Bas</country>
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<author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
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<s2>Tours</s2>
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<country>France</country>
<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="Gecz">Jozef Gecz</name>
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<author><name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
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<s2>New South Wales</s2>
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<country>Australie</country>
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<author><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
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<settlement type="city">Berlin</settlement>
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<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"><inist:fA14 i1="01"><s1>Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
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<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
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</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"><inist:fA14 i1="01"><s1>Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
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<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
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</author>
<author><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max Planck Institute for Molecular Genetics</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2005">2005</date>
</imprint>
</series>
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</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromatin</term>
<term>Gene</term>
<term>Genetic disease</term>
<term>Genetics</term>
<term>Human</term>
<term>Mental retardation</term>
<term>Mutation</term>
<term>Regulation(control)</term>
<term>Sex linked character</term>
<term>Transcription</term>
<term>Vascular remodeling</term>
<term>X-Chromosome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term>
<term>Mutation</term>
<term>Gène</term>
<term>Transcription</term>
<term>Régulation</term>
<term>Chromatine</term>
<term>Chromosome X</term>
<term>Remodelage vasculaire</term>
<term>Maladie héréditaire</term>
<term>Caractère lié au sexe</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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 JARID1C, 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 JARID1C transcript, suggesting that the phenotype in these families results from functional loss of the JARID1C protein. JARID1C (Jumonji AT-rich interactive domain 1C), formerly known as "SMCX," is highly similar to the Y-chromosomal gene JARID1D/SMCY, 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 JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Autriche</li>
<li>Belgique</li>
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</country>
<region><li>Bade-Wurtemberg</li>
<li>Berlin</li>
<li>Centre-Val de Loire</li>
<li>District de Karlsruhe</li>
<li>Gueldre</li>
<li>Région Centre</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Heidelberg</li>
<li>Nimègue</li>
<li>Paris</li>
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<tree><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="Tariverdian, Gholamali" sort="Tariverdian, Gholamali" uniqKey="Tariverdian G" first="Gholamali" last="Tariverdian">Gholamali Tariverdian</name>
<name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name>
</country>
<country name="Autriche"><noRegion><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R." last="Janecke">Andreas R. Janecke</name>
</noRegion>
</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="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
</noRegion>
<name sortKey="Turner, Gillian" sort="Turner, Gillian" uniqKey="Turner G" first="Gillian" last="Turner">Gillian Turner</name>
</country>
</tree>
</affiliations>
</record>

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Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

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