Human Molecular Genetics, Vol 6, 1225-1231, Copyright © 1997 by Oxford University Press
KB Avraham, T Hasson, T Sobe, B Balsara, JR Testa, AB Skvorak, CC Morton, NG Copeland and NA Jenkins
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.
ARTICLES
Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel. karena@post.tau.ac.il
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