Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

@article{Menca2009MutationsIT,
  title={Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss},
  author={{\'A}. Menc{\'i}a and S. Modamio-H{\o}ybj{\o}r and Nick Redshaw and Mat{\'i}as Mor{\'i}n and Fernando Mayo-Merino and L. Olavarrieta and L. A. Aguirre and I. Castillo and K. Steel and T. Dalmay and F. Moreno and Miguel {\'A}ngel Moreno-Pelayo},
  journal={Nature Genetics},
  year={2009},
  volume={41},
  pages={609-613}
}
  • Á. Mencía, S. Modamio-Høybjør, +9 authors Miguel Ángel Moreno-Pelayo
  • Published 2009
  • Biology, Medicine
  • Nature Genetics
  • MicroRNAs (miRNAs) bind to complementary sites in their target mRNAs to mediate post-transcriptional repression, with the specificity of target recognition being crucially dependent on the miRNA seed region. Impaired miRNA target binding resulting from SNPs within mRNA target sites has been shown to lead to pathologies associated with dysregulated gene expression. However, no pathogenic mutations within the mature sequence of a miRNA have been reported so far. Here we show that point mutations… CONTINUE READING

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