Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

Human Molecular Genetics

Volumn 14, Issue 3, 2005, Pages 401-410

  Delprat, Benjamin ^a   Michel, Vincent ^a   Goodyear, Richard ^b   Yamasaki, Yasuhiro ^c   Michalski, Nicolas ^a   El Amaraoui, Aziz ^a   Perfettini, Isabelle ^a   Legrain, Pierre ^d   Richardson, Guy ^b   Hardelin, Jean Pierre ^a   Petit, Christine ^a  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITY OF SUSSEX   (United Kingdom)

^c RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^d Hybrigenics SA   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; ISOPROTEIN; MYOSIN XVA; NETRIN; PDZ PROTEIN; PROTEIN WHORLIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL ELONGATION; COCHLEA; CONTROLLED STUDY; GROWTH RETARDATION; HAIR GROWTH; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; MEMBRANE FORMATION; MOUSE MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DEFECT; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; STEREOCILIUM; VESTIBULAR SYSTEM;

ACTINS; ANIMALS; CELL LINE; CERCOPITHECUS AETHIOPS; CILIA; DOGS; HAIR CELLS; HUMANS; MEMBRANE PROTEINS; MICE; MYOSINS; NERVE TISSUE PROTEINS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RATS;

EID: 13544251711     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi036     Document Type: Article

References (25)

1. Pickles, J.O., Comis, S.D. and Osborne, M.P. (1984) Cross-links between stereocilia in the guinea-pig organ of Corti and their possible relation to sensory transduction. Hear. Res. 15 103-112.
2. Hudspeth, A.J. (1989) How the ear's works work. Nature, 341, 397-404.
3. Tilney, L.G., Tilney, M.S. and De Rosier, D.J. (1992) Actin filaments, stereocilia, and hair cells: how cells count and measure. Annu. Rev. Cell Biol. 8, 257-274.
4. Probst, F.J., Fridell, R.A., Raphael, Y., Saunders, T.L., Wang, A., Liang, Y., Morell, R.J., Touchman, J.W., Lyons, R.H., Noben-Trauth, K. et al. (1998) Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science, 280, 1444-1447.
5. Holme, R.H., Kiernan, B.W., Brown, S.D.M. and Steel, K.P. (2002) Elongation of hair cell stereocilia is defective in the mouse mutant whirler. J. Comp. Neurol., 450, 94-102.
6. Rzadzinska, A.K., Schneider, M.E., Davies, C., Riordan, G.P. and Kachar, B. (2004) An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewal. J. Cell Biol. 164, 887-897.
7. Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R.H., Rump, A., Hardisty, R.E., Blanchard, S., Coimbra, R.S. et al. (2003) Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with mutations in DFNB31. Nat. Genet., 34, 421-428.
8. Sheng, M. and Sala, C. (2001) PDZ domains and the organization of supramolecular complexes. Annu. Rev. Neurosci., 24, 1-29.
9. Yap, C.C., Liang, F., Yamazaki, Y., Muto, Y., Kishida, H., Hayashida, T., Hashikawa, T. and Yano, R. (2003) CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase. J. Neurochem., 85, 123-134.
10. Liang, Y., Wang, A., Belyantseva, I.A., Anderson, D.W., Probst, F.J., Barber, T.D., Miller, W., Touchman, J.W., Jin, L., Sullivan, S.L. et al. (1999) Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and Shaker-2. Genomics, 61, 243-258.
11. Belyantseva, I.A., Boger, E.T. and Friedman, T.B. (2003) Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc. Natl Acad. Sci. USA, 100, 13958-13963.
12. Zimmermann, P., Meerschaert, K., Reekmans, G., Leenaerts, I., Small, J.V., Vandekerckhove, J., David, G. and Gettemans, J. (2002) PIP(2)-PDZ domain binding controls the association of syntenin with the plasma membrane. Mol. Cell, 9, 1215-1225.
13. Mayer, B.J. (2001) SH3 domains: Complexity in moderation. J. Cell Sci., 114, 1253-1263.
14. Kikkawa, Y., Mburu, P., Morse, S., Kominami, R., Townsend, A. and Brown, S.D.M. (2005) Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. Hum. Mol. Genet., 14, 391-400.
15. Tatham, A.S. and Shewry, P.R. (2000) Elastomeric proteins: biological roles, structures and mechanisms. Trends Biochem Sci., 25, 567-571.
16. Friedman, T.B. and Griffith, A.J. (2003) Human nonsyndromic sensorineural deafness. Annu. Rev. Genomics Hum. Genet., 4, 341-402.
17. Beyer, L.A., Odeh, H., Probst, F.J., Lambert, E.H., Dolan, D.F., Camper, S.A., Kohrman, D.C. and Raphael, Y. (2000) Hair cells in the inner ear of the pirouette and shaker 2 mutant mice. J. Neurocytol., 29, 227-240.
18. Hasson, T., Gillespie, P.G., Garcia, J.A., MacDonald, R.B., Zhao, Y., Yee, A.G., Mooseker, M.S. and Corey, D.P. (1997) Unconventional myosins in inner-ear sensory epithelia. J. Cell Biol., 137, 1287-1307.
19. Self, T., Mahony, M., Fleming, J., Walsh, J., Brown, S.D.M. and Steel, K.P. (1998) Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development, 125, 557-566.
20. Boëda, B., El-Amraoui, A., Bahloul, A., Goodyear, R., Daviet, L., Blanchard, S., Perfettini, I., Fath, K.R., Shorte, S., Reiners, J. et al. (2002) Myosin VIIa, harmonin, and cadherin 23, three Usher I gene products, cooperate to shape the sensory hair cell bundle. EMBO J., 21, 6689-6699.
21. Lin, J.C., Ho, W.H., Gurney, A. and Rosenthal, A. (2003) The netrin-G1 ligand NGL-1 promotes the outgrowth of thalamocortical axons. Nat. Neurosci., 6, 1270-1276.
22. Kuja-Panula, J., Kiiltomaki, M., Yamashiro, T., Rouhiainen, A. and Rauvala, H. (2003) AMIGO, a transmembrane protein implicated in axon tract development, defines a novel protein family with leucine-rich repeats. J. Cell Biol., 160, 963-973.
23. Ferrary, E., Tran Ba Huy, P., Roinel, N., Bernard, C. and Amiel, C. (1988) Calcium and the inner ear fluids. Acta Otolaryngol. 460 (suppl.), 13-17.
24. Siemens, J., Kazmierczak, P., Reynolds, A., Sticker, M., Littlewood-Evans, A. and Muller, U. (2002) The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc. Natl Acad. Sci. USA, 99, 14946-14951.
25. Küssel-Andermann, P., El-Amraoui, A., Safieddine, S., Nouaille, S., Perfettini, I., Lecuit, M., Cossart, P., Wolfrum, U. and Petit, C. (2000) Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. EMBO J., 19, 6020-6029.