AustralieFrV1, Main, Exploration, bibRecord, 009459

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

Identifieur interne : 009459 ( Main/Exploration ); précédent : 009458; suivant : 009460

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

Auteurs : WEI CHEN [Allemagne] ; Lars R. Jensen [Allemagne] ; Jozef Gecz [Australie] ; Jean-Pierre Fryns [Belgique] ; Claude Moraine [France] ; Arjan De Brouwer [Pays-Bas] ; Jamel Chelly [France] ; Bettina Moser [Allemagne] ; H. Hilger Ropers [Allemagne] ; Andreas W. Kuss [Allemagne]

Source :

European journal of human genetics [ 1018-4813 ] ; 2007.

RBID : Pascal:07-0116266

Descripteurs français

Pascal (Inist)
- Arriération mentale, Mutation, Dépistage, Criblage, Encéphale, Silence expression génique, Gène, Homme, Malade, Maladie héréditaire, Chromosome X, Caractère lié au sexe, Génétique.
Wicri :
- topic : Homme, Génétique.

English descriptors

KwdEn :
- Encephalon, Gene, Gene silencing, Genetic disease, Genetics, Human, Medical screening, Mental retardation, Mutation, Patient, Screening, Sex linked character, X-Chromosome.

Abstract

MiRNAs are small noncoding RNAs that control the expression of target genes at the post-transcriptional level and have been reported to modulate various biological processes. Their function as regulatory factors in gene expression renders them attractive candidates for harbouring genetic variants with subtle effects on IQ. In an attempt to investigate the potential role of miRNAs in the aetiology of X-linked mental retardation, we have examined all 13 known, brain-expressed X-chromosomal miRNAs in a cohort of 464 patients with non-syndromic X-linked MR and found four nucleotide changes in three different pre-miRNA hairpins. All the observed changes appear to be functionally neutral which, taken together with the rarity of detected nucleotide changes in miRNA genes, may reflect strong selection and thus underline the functional importance of miRNAs.

Affiliations:

Allemagne, Australie, Belgique, France, Pays-Bas
Berlin, Centre-Val de Loire, Gueldre, Région Centre, Île-de-France
Berlin, Nimègue, Paris, Tours

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

to stream PascalFrancis, to step Corpus: 003E05
to stream PascalFrancis, to step Curation: 002283
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Le document en format XML

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<term>Medical screening</term>
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<front><div type="abstract" xml:lang="en">MiRNAs are small noncoding RNAs that control the expression of target genes at the post-transcriptional level and have been reported to modulate various biological processes. Their function as regulatory factors in gene expression renders them attractive candidates for harbouring genetic variants with subtle effects on IQ. In an attempt to investigate the potential role of miRNAs in the aetiology of X-linked mental retardation, we have examined all 13 known, brain-expressed X-chromosomal miRNAs in a cohort of 464 patients with non-syndromic X-linked MR and found four nucleotide changes in three different pre-miRNA hairpins. All the observed changes appear to be functionally neutral which, taken together with the rarity of detected nucleotide changes in miRNA genes, may reflect strong selection and thus underline the functional importance of miRNAs.</div>
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</TEI>
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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

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