Usher syndrome is a major cause of combined deafness and blindness. One form of the disease, termed USH1C, is now found to be caused by mutations in the gene encoding a PDZ-containing protein, harmonin. As interactions between PDZ proteins and their targets are known to mediate protein localization, signalling and maintenance of membrane characteristics, this discovery should accelerate our understanding of Usher syndrome and other auditory disorders.
References
Robertson, N.G. & Morton, C.C. Clin. Genet. 55, 149–159 ( 1999).
Fanning, A.S. & Anderson, J.M. Curr. Opin. Cell. Biol. 11, 432–439 (1999).
Verpy, E. et al. Nature Genet. 26, 51– 55 (2000).
Bitner-Glindzicz, M. et al. Nature Genet. 26, 56– 60 (2000).
Keats, B.J. & Corey, D.P. Am. J. Med. Genet. 89 , 158–166 (1999).
Weil, D. et al. Nature 374, 60–61 (1995).
Eudy, J.D. et al. Science 280, 1753–1757 (1998).
Avraham, K.B. et al. Nature Genet. 11, 369– 375 (1995).
Wang, A. et al. Science 280, 1447–1451 (1998).
Montell, C. Annu. Rev. Cell Dev. Biol. 15, 231– 268 (1999).
Fettiplace, R. & Fuchs, P.A. Annu. Rev. Physiol. 61, 809–834 ( 1999).
Gillespie, P.G. & Corey, D.P. Neuron 19, 955–958 (1997).
Walker, R.G., Willingham, A.T. & Zuker, C.S. Science 287, 2229– 2234 (2000).
Colbert, H.A., Smith, T.L. & Bargmann, C.I. J. Neurosci. 17, 8259– 8269 (1997).
Garcia, J.A., Yee, A.G., Gillespie, P.G. & Corey, D.P. J. Neurosci. 18, 8637–8647 (1998).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Montell, C. A PDZ protein ushers in new links. Nat Genet 26, 6–7 (2000). https://doi.org/10.1038/79186
Issue Date:
DOI: https://doi.org/10.1038/79186
- Springer Nature America, Inc.