Article
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.
Nature genetics - 1 May 2009
Mencía Angeles, Modamio-Høybjør Silvia, Redshaw Nick, Morín Matías, Mayo-Merino Fernando, Olavarrieta Leticia, Aguirre Luis A, del Castillo Ignacio, Steel Karen P, Dalmay Tamas, Moreno Felipe, Moreno-Pelayo Miguel Angel
Abstract excerpt
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...
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