CHARACTERIZATION OF UNCONVENTIONAL MYO6, THE HUMAN HOMOLOG OF THE GENE RESPONSIBLE FOR DEAFNESS IN SNELLS-WALTZER MICE

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