Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D (original) (raw)
References
MGD. Mouse Genome Informatics Project (The Jackson Laboratory, Bar Harbor, Maine, 2000).
Chaib, H. et al. Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21–22. Hum. Mol. Genet.5, 1061–1064 (1996). ArticleCAS Google Scholar
Wayne, S. et al. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum. Mol. Genet.5, 1689– 1692 (1996). ArticleCAS Google Scholar
Deol, S.M. A gene for uncomplicated deafness in the mouse. J. Embryol. Exp. Morphol.4, 190–195 ( 1956). Google Scholar
Deol, M.S. The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. Proc. Roy. Soc.145, 206– 213 (1956). CAS Google Scholar
Bryda, E.C., Ling, H. & Flaherty, L. A high-resolution genetic map around waltzer on mouse chromosome 10 and identification of a new allele of waltzer. Mamm. Genome8, 1–4 ( 1997). ArticleCAS Google Scholar
Yonezawa, S. et al. Chromosomal localization of a gene responsible for vestibulocochlear defects of BUS/Idr mice: identification as an allele of waltzer. Hear. Res.134, 116–122 (1999). ArticleCAS Google Scholar
Gumbiner, B.M. Cell adhesion: the molecular basis of tissue architecture and morphogenesis . Cell84, 345–357 (1996). ArticleCAS Google Scholar
Takeichi, M. Morphogenetic roles of classic cadherins. Curr. Opin. Cell Biol.7, 619–627 ( 1995). ArticleCAS Google Scholar
Yagi, T. & Takeichi, M. Cadherin superfamily genes: functions, genomic organization, and neurologic diversity. Genes Dev.14, 1169–1180 (2000). CASPubMed Google Scholar
Yap, A.S., Brieher, W.M. & Gumbiner, B.M. Molecular and functional analysis of cadherin-based adherens junctions. Annu. Rev. Cell Dev. Biol.13, 119–146 (1997). ArticleCAS Google Scholar
Suzuki, S.T. Protocadherins and diversity of the cadherin superfamily. J. Cell Sci.109, 2609–2611 ( 1996). CASPubMed Google Scholar
Ozawa, M., Engel, J. & Kemler, R. Single amino acid substitutions in one Ca2+ binding site of uvomorulin abolish the adhesive function. Cell63, 1033–1038 ( 1990). ArticleCAS Google Scholar
Nollet, F., Kools, P. & van Roy, F. Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members. J. Mol. Biol.299, 551–572 (2000). ArticleCAS Google Scholar
Noben-Trauth, K., Zheng, Q.Y., Johnson, K.R. & Nishina, P.M. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics44, 266– 272 (1997). ArticleCAS Google Scholar
Street, V.A., McKee-Johnson, J.W., Fonseca, R.C., Tempel, B.L. & Noben-Trauth, K. Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice. Nature Genet.19, 390–394 (1998). ArticleCAS Google Scholar
Alagramam, K.N. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15 , a new protocadherin gene. Nature Genet.27, 99–102 (2000). Article Google Scholar
Yamoah, E.N. et al. Plasma membrane Ca2+-ATPase extrudes Ca2+ from hair cell stereocilia. J. Neurosci.18, 610–624 (1998). ArticleCAS Google Scholar
Johnson, K.R., Erway, L.C., Cook, S.A., Willott, J.F. & Zheng, Q.Y. A major gene affecting age-related hearing loss in C57BL/6J mice. Hear. Res.114, 83– 92 (1997). ArticleCAS Google Scholar
Bolz, H. et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nature Genet.27, 105–112 (2000). Google Scholar
Liu, X., Udovichenko, I.P., Brown, S.D., Steel, K.P. & Williams, D.S. Myosin VIIa participates in opsin transport through the photoreceptor cilium. J. Neurosci.19, 6267–6274 (1999). ArticleCAS Google Scholar
Schultz, J., Copley, R.R., Doerks, T., Ponting, C.P. & Bork, P. SMART: a web-based tool for the study of genetically mobile domains. Nucleic Acids Res28, 231 –234 (2000). ArticleCAS Google Scholar
Rost, B. PHD: predicting one-dimensional protein structure by profile-based neural networks. Methods Enzymol.266, 525– 539 (1996). ArticleCAS Google Scholar
Nielsen, H., Engelbrecht, J., Brunak, S. & von Heijne, G. Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites. Protein Eng.10, 1–6 (1997). ArticleCAS Google Scholar
Flaherty, L., Messer, A., Russell, L.B. & Rinchik, E.M. Chlorambucil-induced mutations in mice recovered in homozygotes. Proc. Natl. Acad. Sci. USA89, 2859– 2863 (1992). ArticleCAS Google Scholar
Noben-Trauth, K., Naggert, J.K., North, M.A. & Nishina, P.M. A candidate gene for the mouse mutation tubby. Nature380, 534–538 (1996). ArticleCAS Google Scholar
Lanford, P.J. et al. Notch signalling pathway mediates hair cell development in mammalian cochlea. Nature Genet.21, 289 –292 (1999). ArticleCAS Google Scholar
Hunter-Duvar, I.M. A technique for preparation of cochlear specimens for assessment with the scanning electron microscope. Acta Otolaryngol. Suppl.351, 3–23 (1978). ArticleCAS Google Scholar
Self, T. et al. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development125 , 557–566 (1998). CASPubMed Google Scholar