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

Item Type:	Article
Title:	Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Creators Name:	Chen, W. and Jensen, L.R. and Gecz, J. and Fryns, J.P. and Moraine, C. and de Brouwer, A. and Chelly, J. and Moser, B. and Ropers, H.H. and Kuss, A.W.
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.
Keywords:	MiRNA, X-linked Mental Retardation, Genetic Modifier, Mutation, Brain
Source:	European Journal of Human Genetics
ISSN:	1018-4813
Publisher:	Nature Publishing Group
Volume:	15
Number:	3
Page Range:	375-378
Date:	March 2007
Official Publication:	https://doi.org/10.1038/sj.ejhg.5201758
PubMed:	View item in PubMed

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