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

Research output: Contribution to journalArticle

498 Citations (Scopus)

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
StatePublished - 1995

Fingerprint

Deafness
Myosins
Mutation
Genes
Organ of Corti
RNA Splice Sites
Cochlea
Homozygote
Inner Ear
Hearing
Epithelium
Head

All Science Journal Classification (ASJC) codes

  • General

Cite this

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.

A type VII myosin encoded by the mouse deafness gene shaker-1. / Gibson, F.; Walsh, J.; Mburu, P.; Varela, A.; Brown, K. A.; Antonio, M.; Beisel, Kirk; Steel, K. P.; Brown, S. D M.

In: Nature, Vol. 374, No. 6517, 1995, p. 62-64.

Research output: Contribution to journalArticle

Gibson, F, Walsh, J, Mburu, P, Varela, A, Brown, KA, Antonio, M, Beisel, K, Steel, KP & Brown, SDM 1995, 'A type VII myosin encoded by the mouse deafness gene shaker-1', Nature, vol. 374, no. 6517, pp. 62-64.
Gibson F, Walsh J, Mburu P, Varela A, Brown KA, Antonio M et al. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature. 1995;374(6517):62-64.
Gibson, F. ; Walsh, J. ; Mburu, P. ; Varela, A. ; Brown, K. A. ; Antonio, M. ; Beisel, Kirk ; Steel, K. P. ; Brown, S. D M. / A type VII myosin encoded by the mouse deafness gene shaker-1. In: Nature. 1995 ; Vol. 374, No. 6517. pp. 62-64.
@article{9abb3eec1f0f4ceab04ce9ff660e9a35,
title = "A type VII myosin encoded by the mouse deafness gene shaker-1",
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.",
author = "F. Gibson and J. Walsh and P. Mburu and A. Varela and Brown, {K. A.} and M. Antonio and Kirk Beisel and Steel, {K. P.} and Brown, {S. D M}",
year = "1995",
language = "English",
volume = "374",
pages = "62--64",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "6517",

}

TY - JOUR

T1 - A type VII myosin encoded by the mouse deafness gene shaker-1

AU - Gibson, F.

AU - Walsh, J.

AU - Mburu, P.

AU - Varela, A.

AU - Brown, K. A.

AU - Antonio, M.

AU - Beisel, Kirk

AU - Steel, K. P.

AU - Brown, S. D M

PY - 1995

Y1 - 1995

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0028860302&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028860302&partnerID=8YFLogxK

M3 - Article

VL - 374

SP - 62

EP - 64

JO - Nature

JF - Nature

SN - 0028-0836

IS - 6517

ER -