Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells

Nature

Volumn 428, Issue 6986, 2004, Pages 955-959

  Söllner, Christian ^a   Nicolson, Teresa ^a,d   Rauch, Gerd Jörg ^b   Geisler, Robert ^b   Schuster, Stephan C ^a   Siemens, Jan ^c   Müller, Ulrich ^c   Van Bebber, F ^a   Busch Nentwich, E ^a   Dahm, R ^a   Frank, O ^a   Frohnhofer H G ^a   Geiger, H ^a   Gilmour, D ^a   Holley, S ^a   Hooge, J ^a   Julich D ^a   Knaut, H ^a   Maderspacher, F ^a   Maischein, H M ^a   Neumann, C ^a   Nusslein Volhard C ^a   Roehl, H ^a   Schonberger U ^a   Seiler, C ^a   Sidi, S ^a   Sonawane, M ^a   Wehner, A ^a   Erker, P ^e   Habeck, H ^e   Hagner, U ^e   Hennen Kaps, C E ^e   Kirchner, A ^e   Koblizek, T ^e   Langheinrich, U ^e   Loeschke, C ^e   Metzger, C ^e   Nordin, R ^e   Odenthal, J ^e   Pezzuti, M ^e   Schlombs, K ^e   de Santana Stamm, J ^e   Trowe, T ^e   Vacun, G ^e   Walderich, B ^e   Walker, A ^e   Weiler, C ^e   more..

^a MAX PLANCK INSTITUTE FOR DEVELOPMENTAL BIOLOGY   (Germany)

^b Abteilung Genetik   (Germany)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e Artemis Pharmaceuticals GmbH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CELLS; MOLECULAR BIOLOGY; PROTEINS; SENSORY PERCEPTION;

APICAL PROJECTIONS; MECHANOSENSORY CHANNELS; MOLECULAR MACHINERY;

MUTAGENESIS;

CADHERIN; CADHERIN 23; UNCLASSIFIED DRUG;

BIOLOGY; HAIR;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CHANNEL GATING; CONTROLLED STUDY; GENE MUTATION; HAIR CELL; HEARING DISORDER; HOMOZYGOSITY; LARVA; MECHANOTRANSDUCTION; MOVEMENT (PHYSIOLOGY); NONHUMAN; PRIORITY JOURNAL; SOUND; STEREOCILIUM; VESTIBULAR DISORDER; ZEBRA FISH;

ANIMALIA; DANIO RERIO;

EID: 84905556082     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature02484     Document Type: Letter

References (31)

1. Howard, J. & Hudspeth, A. J. Compliance of the hair bundle associated with gating of mechanoelectricaltransduction channels inthebullfrog’s saccularhaircell. Neuron 3, 189-199 (1988).
2. Granato, M. etal. Genes controlling and mediating locomotionbehaviorofthe zebrafish embryo and larva. Development 123, 399-413 (1996).
3. Nicolson, T. et al. Genetic analysis of vertebrate sensory hair cell mechanosensation: the zebrafish circler mutants. Neuron 20, 271-283 (1998).
4. Seiler, C. & Nicolson, T. Defective calmodulin-dependent rapid apical endocytosis in zebrafish sensory hair cell mutants. J. Neurobiol. 41, 424-434 (1999).
5. Bork, J. etal. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am. J. Genet. 68, 26-37 (2000).
6. Bolz, H. etal. Mutation of CDH23, encoding a new member ofthe cadherin gene family, causes Usher syndrometype 1D. Nature Genet. 27, 108-112 (2001).
7. Di Palma, F. et al. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nature Genet. 27, 103-107 (2001).
8. Wilson, S. et al. Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. Genomics 74, 228-233 (2001).
9. Wada, T. etal. Apoint mutation inacadherin gene, Cdh23, causes deafness in a novel mutant, waltzer mouse niigata. Biochem. Biophys. Res. Comm. 283, 113-117 (2001).
10. Siemens, J. etal. The Ushersyndromeproteins cadherin23 andharmonin formacomplexbymeans of PDZ-domain interactions. Proc. Natl Acad. Sci. USA 99, 14946-14951 (2002).
11. Boeda, B. etal. MyosinVIIa, harmonin andcadherin 23, three Usherl geneproductsthat cooperateto shape the sensory hair cell bundle. EMBO J. 21, 6689-6699 (2002).
12. Pickles, J. et al. The organization of tip links and stereocilia on hair cells of bird and lizard basilar papillae. Hear. Res. 41, 31-42 (1989).
13. Goodyear, R. & Richardson, G. Distribution of the 275kD hair cell antigen and cell surface specializations on auditory and vestibular hair bundles in the chicken inner ear. J. Comp. Neurol. 325, 243-256 (1992).
14. Katori, Y., Tonosaki, A. & Takasaka, T. WGA lectin binding sites of the apical surface of corti epithelium: enhancement by back-scattered electron imaging in guinea-pig inner ear. J. Elec. Microsc. 45, 207-212 (1996).
15. Goodyear, R. & Richardson, G. The ankle-link antigen: an epitope sensitive to calcium chelation associated with the hair-cell surface and the calycal processes ofphotoreceptors. J. Neurosci. 19, 3761-3772 (1999).
16. Goodyear, R. J. & Richardson, G. P. A novel antigen sensitive to calcium chelation that is associated with the tip links and kinocilial links of sensory hair bundles. J. Neurosci. 23, 4878-4887 (2003).
17. Goodyear, R. J. et al. A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. J. Neurosci. 23, 9208-9219 (2003).
18. Pickles, J. & Corey, D. Mechanoelectrical transduction by hair cells. Trends Neurosci. 15, 254-259 (1992).
19. Steel, K. & Kros, C. A genetic approach to understanding auditory function. Nature Genet. 27, 143-149 (2001).
20. Ernest, S. et al. Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness. Hum. Mol. Genet. 9, 2189-2196 (2000).
21. Riley, B. B., Zhu, C., Janetopoulos, C. & Aufderheide, K. J. A critical period of ear development controlled by distinct populations of ciliated cells in the zebrafish. Dev. Biol. 191, 191-201 (1997).
22. Siemens, J. et al. Cadherin 23 is a component of the tip link in hair cell stereocilia. Nature advance online publication 31 March 2004 (doi:10.1038/nature02483).
23. Neugebauer, D. & Thurm, U. Surface charges ofthe membrane and cell adhesion substances determine the structural integrity of hair bundles from the inner ear of fish. Cell Tissue Res. 249, 199-207 (1987).
24. Leckband, D. & Sivasankar, S. Mechanism ofhomophilic cadherin adhesion. Curr. Opin. Cell Biol. 12, 587-592 (2000).
25. Assad, J., Shepherd, G. & Corey, D. Tip-link integrity and mechanical transduction in vertebrate hair cells. Neuron 7, 987-994 (1991).
26. Kachar, B., Parakkal, M., Kurc, M., Zhao, Y. & Gillespie, P. High-resolution structure of hair cell tip links. Proc. Natl Acad. Sci. USA 97, 13336-13341 (2000).
27. Baumgartner, W. et al. Cadherin interaction probed by atomic force microscopy. Proc. Natl Acad. Sci. USA 97, 4005-4010 (2000).
28. Sivasankar, S., Gumbiner, B. & Leckband, D. Direct measurements ofmultiple adhesive alignments and unbinding trajectories between cadherin extracellular domains. Biophys. J. 80, 1758-1768 (2001).
29. Sidi, S., Friedrich, R. & Nicolson, T. NompC TRP channel required for vertebrate sensory hair cell mechanotransduction. Science 301, 96-99 (2003).
30. Fleischmann, R. D. etal. Whole-genomerandom sequencingandassemblyofHaemophilus influenzae. Science 269, 494-512 (1995).
31. Westerfield, M. The Zebrafish Book 3rd edn (Univ. Oregon Press, Eugene, Oregon, 1995).