title: Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.
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.
authors.affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany.
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.forename: Lars R
authors.initials: LR
authors.lastname: Jensen
authors.forename: Jozef
authors.initials: J
authors.lastname: Gecz
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Claude
authors.initials: C
authors.lastname: Moraine
authors.forename: Arjan
authors.initials: A
authors.lastname: de Brouwer
authors.forename: Jamel
authors.initials: J
authors.lastname: Chelly
authors.forename: Bettina
authors.initials: B
authors.lastname: Moser
authors.forename: H Hilger
authors.initials: HH
authors.lastname: Ropers
authors.forename: Andreas W
authors.initials: AW
authors.lastname: Kuss
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000378:metabolism*; D041321:Chromosomes, Human, X / Q000235:genetics*; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D035683:MicroRNAs / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: D035683:MicroRNAs