Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter
  • Published:

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 Corti2–7. 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.

This is a preview of subscription content, access via your institution

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Fraser, G. R. The Causes of Profound Deafness in Childhood (John Hopkins University Press, Baltimore, 1976).

    Google Scholar 

  2. Lord, E. M. & Gates, W. H. Am. Nat. 63, 435–442 (1929).

    Article  Google Scholar 

  3. Deol, M. S. Proc. R. Soc. B 145, 206–213 (1956).

    ADS  CAS  Google Scholar 

  4. Kikuchi, K. & Hilding, D. A. Acta otolaryngol. 60, 287–303 (1965).

    Article  Google Scholar 

  5. Mikaelian, D. O. & Ruben, R. J. Arch. Otolarynogol. 80, 418–430 (1964).

    Article  CAS  Google Scholar 

  6. Steel, K. P. & Bock, G. R. Arch. Otolaryngol. 109, 22–29 (1983).

    Article  CAS  Google Scholar 

  7. Steel, K. P. & Harvey, P. Development of Auditory and Vestibular Systems Vol. 2 (ed. Romand, R.) 221–242 (Elsevier, Amsterdam, 1992).

    Google Scholar 

  8. Brown, K. A., Sutcliffe, M. J., Steel, K. P. & Brown, S. D. M. Genomics 13, 189–193 (1992).

    Article  CAS  Google Scholar 

  9. Gibson, F., Lehrach, H., Buckler, A., Brown, S. D. M. & North, M. A. Biotechniques 16, 453–458 (1994).

    CAS  PubMed  Google Scholar 

  10. Mooseker, M. Curr. Biol. 3, 245–248 (1993).

    Article  CAS  Google Scholar 

  11. Bement, W. M., Hasson, T., Wirth, J. A., Cheney, R. E. & Mooseker, M. S. Proc. natn. Acad. Sci. U.S.A. 91, 6549–6553 (1994).

    Article  ADS  CAS  Google Scholar 

  12. Solc, C. F., Derfler, B. H., Duyk, G. M. & Corey, D. P. Aud. Neurosci. (in the press).

  13. Weil, D. et al. Nature 374, 60–62 (1995).

    Article  ADS  CAS  Google Scholar 

  14. Letts, V. A., Gervais, J. L. M. & Frankel, W. N. Mouse Genome 92, 116 (1994).

    Google Scholar 

  15. Rinchik, E. M., Carpenter, D. A. & Selby, P. B. Proc. natn. Acad. Sci. U.S.A. 87, 896–900 (1990).

    Article  ADS  CAS  Google Scholar 

  16. Dibb, N. J. et al. J. molec. Biol. 183, 543–551 (1985).

    Article  CAS  Google Scholar 

  17. Gillespie, P. G., Wagner, M. C. & Hudspeth, A. J. Neuron 11, 581–594 (1993).

    Article  CAS  Google Scholar 

  18. Hudspeth, A. J. & Gillespie, P. G. Neuron 12, 1–9 (1994).

    Article  CAS  Google Scholar 

  19. Kimberling, W. et al. Genomics 14, 988–994 (1992).

    Article  CAS  Google Scholar 

  20. Evans, K. L. et al. Hum. molec. Genet. 2, 115–118 (1993).

    Article  CAS  Google Scholar 

  21. Smith, R. J. H. et al. Genomics 14, 995–1002 (1992).

    Article  CAS  Google Scholar 

  22. Kaplan, J. et al. Genomics 14, 979–987 (1992).

    Article  CAS  Google Scholar 

  23. Guilford, P. et al. Hum. molec. Genet. 3, 989–993 (1994).

    Article  CAS  Google Scholar 

  24. Burke, D. T., Rossi, J. M., Lung, J., Koos, D. S. & Tilghman, S. M. Mamm. Genome 1, 65 (1991).

    Article  CAS  Google Scholar 

  25. Chartier, F. L. et al. Nature Genet. 1, 132–136 (1992).

    Article  CAS  Google Scholar 

  26. Kusumi, K., Smith, J. S., Segre, J. A., Koos, D. S. & Lander, E. S. Mamm. Genome 4, 391–392 (1993).

    Article  CAS  Google Scholar 

  27. Hermanson, G. G., Hoekstra, M. F., McElligott, D. L. & Evans, G. A. Nucleic Acids Res. 19, 4943–4948 (1991).

    Article  CAS  Google Scholar 

  28. Greenfield, A. J. & Brown, S. D. M. Genomics 1, 153–158 (1987).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gibson, F., Walsh, J., Mburu, P. et al. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374, 62–64 (1995). https://doi.org/10.1038/374062a0

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/374062a0

This article is cited by

Comments

By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing