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Hum Mol Genet. 1997 Aug;6(8):1225-31.

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice.

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  • 1Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel. karena@post.tau.ac.il

Abstract

Deafness is the most common form of sensory impairment in humans. Mutations in unconventional myosins have been found to cause deafness in humans and mice. The mouse recessive deafness mutation, Snell's waltzer, contains an intragenic deletion in an unconventional myosin, myosin VI (locus designation, Myo6). The requirement for Myo6 for proper hearing in mice makes this gene an excellent candidate for a human deafness disorder. Here we report the cloning and characterization of the human unconventional myosin VI (locus designation, MYO6) cDNA. The MYO6 gene maps to human chromosome 6q13. The isolation of the human gene makes it now possible to determine if mutations in MYO6 contribute to the pathogenesis of deafness in the human population.

PMID:
9259267
[PubMed - indexed for MEDLINE]
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