A type VII myosin encoded by the mouse deafness gene shaker-1

F. Gibson, J. Walsh, P. Mburu, A. Varela, K. A. Brown, M. Antonio, Kirk Beisel, K. P. Steel, S. D M Brown

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Abstract

GENETIC deafness is common, affecting about 1 in 2,000 births1. Many of these show primary abnormalities of the sensory neuro-epithelia of the inner ear, as do several hearing-impaired mouse mutants, suggesting that genes involved in sensory transduction could be affected. Here we report the identification of one such gene, the mouseshaker-1(shl) gene. Shaker-1 homozygotes show hyperactivity, head-tossing and circling due to vestibular dysfunction, together with typical neuroepithelial-type cochlear defects involving dysfunction and progressive degeneration of the organ of Corti 2-7. The shl gene encodes an unconventional myosin molecule of the type VII family. Three mutations are described, two mis-sense mutations and a splice acceptor site mutation, all in the region encoding the myosin head. The myosin type VII molecule encoded byshl is the first molecule to be identified that is known, by virtue of its mutations, to be involved in auditory transduction.

Original languageEnglish
Pages (from-to)62-64
Number of pages3
JournalNature
Volume374
Issue number6517
Publication statusPublished - 1995

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Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M., ... Brown, S. D. M. (1995). A type VII myosin encoded by the mouse deafness gene shaker-1. Nature, 374(6517), 62-64.