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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
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Journal Article
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
2007
Overview
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.
Publisher
Springer International Publishing,Nature Publishing,Nature Publishing Group
Subject
Adult and adolescent clinical studies
/ Biochemistry, Molecular Biology
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Chromosomes, Human, X - genetics
/ Disease
/ Fundamental and applied biological sciences. Psychology
/ General aspects. Genetic counseling
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genomics
/ Humans
/ Males
/ Mental Retardation, X-Linked - genetics
/ MiRNA
/ Molecular and cellular biology
/ Mutation
