| miRNA: |
hsa-miR-96 |
| Disease: |
hearing loss |
Relationship type: |
Causal |
Detection method for miRNA expression: |
northern blot, qRT-PCR etc |
| Expression pattern of miRNA: |
normal |
Validated targets of miRNA from the reference: |
unknown |
Validated targets of miRNA from TarBase: |
unknown : More... |
| Predicted targets: |
MIRANDA, TARGETSCAN, PICTAR-VERT |
Description: 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 in the seed region of miR-96, a miRNA expressed in hair cells of the inner ear, result in autosomal dominant, progressive hearing loss. This is the first study implicating a miRNA in a mendelian disorder. The identified mutations have a strong impact on miR-96 biogenesis and result in a significant reduction of mRNA targeting. We propose that these mutations alter the regulatory role of miR-96 in maintaining gene expression profiles in hair cells required for their normal function. |
Reference:
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. | PMID:19363479
Mencía A, Modamio-H?ybj?r S, Redshaw N
Nat Genet. 2009 Apr 12. [Epub ahead of print] |
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