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

Chen, Wei; Jensen, Lars R; Gecz, Jozef; Fryns, Jean-Pierre; Moraine, Claude; de Brouwer, Arjan; Chelly, Jamel; Moser, Bettina; Ropers, Hans-Hilger; Kuss, Andreas W.

doi:10.1038/sj.ejhg.5201758

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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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Chen, Wei
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Jensen, Lars R
Max Planck Society;

Moser, Bettina
Max Planck Society;

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Ropers, Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Kuss, Andreas W.
Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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引用

Chen, W., Jensen, L. R., Gecz, J., Fryns, J.-P., Moraine, C., de Brouwer, A., Chelly, J., Moser, B., Ropers, H.-H., & Kuss, A. W. (2007). Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. European Journal of Human Genetics: EJHG; the Official Journal of the European Society of Human Genetics, 15(3), 375-378. doi:10.1038/sj.ejhg.5201758.

引用: https://hdl.handle.net/11858/00-001M-0000-0010-8227-5

要旨

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.