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          Institute: MPI für molekulare Genetik     Collection: Sequencing Group     Display Documents

ID: 337307.0, MPI für molekulare Genetik / Sequencing Group
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Authors:Chen, Wei; Jensen, Lars R; Gecz, Jozef; Fryns, Jean-Pierre; Moraine, Claude; de Brouwer, Arjan; Chelly, Jamel; Moser, Bettina; Ropers, Hans-Hilger; Kuss, Andreas W.
Research Context:Short report
Date of Publication (YYYY-MM-DD):2007-03-01
Title of Journal:European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Journal Abbrev.:Eur J Hum Genet
Issue / Number:3
Start Page:375
End Page:378
Copyright:& 2007 Nature Publishing Group
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:MiRNA, X-linked mental retardation, genetic modifier, mutation, brain
Comment of the Author/Creator:Correspondence: Dr AW Kuss, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany. Tel: +49 30 84131253; Fax: +49 30 84131383; E-mail: kuss_a@molgen.mpg.de
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Richard Reinhardt
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, Australia;
2.Centre for Human Genetics, University of Leuven, Leuven, Belgium;
3.Service de Génétique et INSERM U316, Hôpital Bretonneau, Tours, France;
4.Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands;
5.INSERM 129-ICGM, Faculté de Médecine Cochin, Paris, France.
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