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| A TYPE-VII MYOSIN ENCODED BY THE MOUSE DEAFNESS GENE SHAKER-1 |
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| Author(s): GIBSON F, WALSH J, MBURU P, VARELA A, BROWN KA, ANTONIO M, BEISEL KW, STEEL KP, BROWN SDM |
| Source: NATURE Volume: 374 Issue: 6517 Pages: 62-64 Published: MAR 2 1995 |
| Times Cited: 388 References: 28 |
| Abstract: GENETIC deafness is common, affecting about 1 in 2,000 births(1). Many of these show primary abnormalities of the sensory neuroepithelia 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 mouse shaker-1 (sh1) 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 sh1 gene encodes an unconventional myosin molecule of the type VII family. Three mutations are described, two missense mutations and a splice acceptor site mutation, all in the region encoding the myosin head. The myosin type VII molecule encoded by sh1 is the first molecule to be identified that is known, by virtue of its mutations, to be involved in auditory transduction. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV LONDON IMPERIAL COLL SCI TECHNOL & MED, ST MARYS HOSP, SCH MED, DEPT BIOCHEM & MOLEC GENET, LONDON W2 1PG, ENGLAND
2. BOYS TOWN NATL RES HOSP, OMAHA, NE 68131 USA
3. MRC, INST HEARING RES, NOTTINGHAM NG7 2RD, ENGLAND |
| Publisher: MACMILLAN MAGAZINES LTD, 4 LITTLE ESSEX STREET, LONDON, ENGLAND WC2R 3LF |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: QK079 |
| ISSN: 0028-0836 |
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