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}ngeles Menc{\'i}a and Silvia Modamio-H\oybj\or and Nick Redshaw and Mat{\'i}as Mor{\'i}n and Fernando Mayo-Merino and Leticia Olavarrieta and Luis A. Aguirre and Ignacio Del Castillo and Karen P. Steel and Tam{\'a}s Dalmay and Felipe Moreno and Miguel {\'A}ngel Moreno-Pelayo},
  journal={Nature Genetics},
  year={2009},
  volume={41},
  pages={609-613}
}
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

Citations

Publications citing this paper.
Showing 1-10 of 42 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 29 references

a mechanism for functional single-nucleotide polymorphisms related to phenotypes

  • Sethupathy, P. et al. Human microRNA-155 on chromosome 21 differe region
  • Am. J. Hum. Genet. 81, 405–413
  • 2007

Similar Papers

Loading similar papers…