AustralieFrV1, Main, Exploration, bibRecord, 00AB80

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

Identifieur interne : 00AB80 ( Main/Exploration ); précédent : 00AB79; suivant : 00AB81

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

Auteurs : Kristine Freude [Allemagne] ; Kirsten Hoffmann [Allemagne] ; Lars-Riff Jensen [Allemagne] ; Martin B. Delatycki [Australie] ; Vincent Des Portes [France] ; Bettina Moser [Allemagne] ; Ben Hamel [Pays-Bas] ; Hans Van Bokhoven [Pays-Bas] ; Claude Moraine [France] ; Jean-Pierre Fryns [Belgique] ; Jamel Chelly [France] ; Jozef Gecz [Australie] ; Steffen Lenzner [Allemagne] ; Vera M. Kalscheuer [Allemagne] ; Hans-Hilger Ropers [Allemagne]

Source :

American journal of human genetics [ 0002-9297 ] ; 2004.

RBID : Pascal:05-0021314

Descripteurs français

Pascal (Inist)
- Arriération mentale, Mutation, Gène, Codage, Protéine liaison, Maladie héréditaire, Chromosome X, Caractère lié au sexe, Génétique, Homme, Adénosylméthionine.
Wicri :
- topic : Codage, Génétique, Homme.

English descriptors

KwdEn :
- Adenosylmethionine, Binding protein, Coding, Gene, Genetic disease, Genetics, Human, Mental retardation, Mutation, Sex linked character, X-Chromosome.

Abstract

Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that ∼30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed genes from this region. Here, we report on a novel NSXLMR gene, FTSJ1, which harbors mutations in three unrelated families-one with a splicing defect, one with a nonsense mutation, and one with a deletion of one nucleotide. In two families, subsequent expression studies showed complete absence or significant reduction of mutant FTSJ1 transcripts. FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1216064

Affiliations:

Allemagne, Australie, Belgique, France, Pays-Bas
Auvergne-Rhône-Alpes, Berlin, Centre-Val de Loire, Gueldre, Rhône-Alpes, Région Centre, Victoria (État), Île-de-France
Berlin, Lyon, Melbourne, Nimègue, Paris, Tours
Université de Melbourne

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation</title>
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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="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Women's and Children's Hospital and The University of Adelaide</s1>
<s2>Adelaide</s2>
<s3>AUS</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Women's and Children's Hospital and The University of Adelaide</wicri:noRegion>
</affiliation>
</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>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</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"><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>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</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"><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>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<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="2004">2004</date>
</imprint>
</series>
</biblStruct>
</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>Adenosylmethionine</term>
<term>Binding protein</term>
<term>Coding</term>
<term>Gene</term>
<term>Genetic disease</term>
<term>Genetics</term>
<term>Human</term>
<term>Mental retardation</term>
<term>Mutation</term>
<term>Sex linked character</term>
<term>X-Chromosome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term>
<term>Mutation</term>
<term>Gène</term>
<term>Codage</term>
<term>Protéine liaison</term>
<term>Maladie héréditaire</term>
<term>Chromosome X</term>
<term>Caractère lié au sexe</term>
<term>Génétique</term>
<term>Homme</term>
<term>Adénosylméthionine</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Codage</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that ∼30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed genes from this region. Here, we report on a novel NSXLMR gene, FTSJ1, which harbors mutations in three unrelated families-one with a splicing defect, one with a nonsense mutation, and one with a deletion of one nucleotide. In two families, subsequent expression studies showed complete absence or significant reduction of mutant FTSJ1 transcripts. FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development.</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>Auvergne-Rhône-Alpes</li>
<li>Berlin</li>
<li>Centre-Val de Loire</li>
<li>Gueldre</li>
<li>Rhône-Alpes</li>
<li>Région Centre</li>
<li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Lyon</li>
<li>Melbourne</li>
<li>Nimègue</li>
<li>Paris</li>
<li>Tours</li>
</settlement>
<orgName><li>Université de Melbourne</li>
</orgName>
</list>
<tree><country name="Allemagne"><region name="Berlin"><name sortKey="Freude, Kristine" sort="Freude, Kristine" uniqKey="Freude K" first="Kristine" last="Freude">Kristine Freude</name>
</region>
<name sortKey="Hoffmann, Kirsten" sort="Hoffmann, Kirsten" uniqKey="Hoffmann K" first="Kirsten" last="Hoffmann">Kirsten Hoffmann</name>
<name sortKey="Jensen, Lars Riff" sort="Jensen, Lars Riff" uniqKey="Jensen L" first="Lars-Riff" last="Jensen">Lars-Riff Jensen</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="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
</country>
<country name="Australie"><noRegion><name sortKey="Delatycki, Martin B" sort="Delatycki, Martin B" uniqKey="Delatycki M" first="Martin B." last="Delatycki">Martin B. Delatycki</name>
</noRegion>
<name sortKey="Delatycki, Martin B" sort="Delatycki, Martin B" uniqKey="Delatycki M" first="Martin B." last="Delatycki">Martin B. Delatycki</name>
<name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
</country>
<country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name>
</region>
<name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name>
</region>
<name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</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>
</country>
</tree>
</affiliations>
</record>

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Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

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