Title: 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, H Hilger
Kuss, Andreas W #
Issue Date: Mar-2007
Publisher: Karger
Series Title: European Journal of Human Genetics vol:15 issue:3 pages:375-378
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.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
× corresponding author
# (joint) last author

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