AustralieFrV1, Main, Merge, bibRecord, 00B477

Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation

Identifieur interne : 00B477 ( Main/Merge ); précédent : 00B476; suivant : 00B478

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 ; 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 Gécz [Australie] ; Steffen Lenzner [Allemagne] ; Vera M. Kalscheuer [Allemagne] ; Hans-Hilger Ropers [Allemagne]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2004.

RBID : PMC:1216064

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

PubMed: 15162322
PubMed Central: 1216064

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to stream Ncbi, to step Merge: 000109
to stream Ncbi, to step Curation: 000109
to stream Ncbi, to step Checkpoint: 000109

Links to Exploration step

PMC:1216064

Le document en format XML

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 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in the <italic>FTSJ1</italic>
 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation</title>
<author><name sortKey="Freude, Kristine" sort="Freude, Kristine" uniqKey="Freude K" first="Kristine" last="Freude">Kristine Freude</name>
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<author><name sortKey="Hoffmann, Kirsten" sort="Hoffmann, Kirsten" uniqKey="Hoffmann K" first="Kirsten" last="Hoffmann">Kirsten Hoffmann</name>
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<author><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name>
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<author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name>
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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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<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="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
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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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<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gécz">Jozef Gécz</name>
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<author><name sortKey="Lenzner, Steffen" sort="Lenzner, Steffen" uniqKey="Lenzner S" first="Steffen" last="Lenzner">Steffen Lenzner</name>
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<placeName><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>
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<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="N0x95293f8.0x9931720">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>
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<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>
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<front><div type="abstract" xml:lang="en"><p>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, <italic>FTSJ1,</italic>
 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 <italic>FTSJ1</italic>
 transcripts. FTSJ1 protein is a homolog of <italic>Escherichia coli</italic>
 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.</p>
</div>
</front>
</TEI>
</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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Abstract

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