AustralieFrV1, PascalFrancis, Curation, bibRecord, 001535

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

Identifieur interne : 001535 ( PascalFrancis/Curation ); précédent : 001534; suivant : 001536

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.

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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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<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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<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>
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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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