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|Title:||Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation|
de Brouwer, A.
|Citation:||European Journal of Human Genetics, 2007; 15(3):375-378|
|Publisher:||Nature Publishing Group|
|Wei Chen, Lars R Jensen, Jozef Gecz, Jean-Pierre Fryns, Claude Moraine, Arjan de Brouwer, Jamel Chelly, Bettina Moser, H Hilger Ropers and Andreas W Kuss|
|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:||Brain; Chromosomes, Human, X; Humans; Mental Retardation, X-Linked; MicroRNAs; Base Sequence; Point Mutation; Molecular Sequence Data|
|Description:||Copyright © 2007 Nature Publishing Group. All rights reserved.|
|Provenance:||Published online 20 December 2006.|
|Appears in Collections:||Paediatrics publications|
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