Review paper: Towards a molecular understanding of the pathophysiology of Usher syndrome

Journal of Audiological Medicine

Volumn 6, Issue 3, 1997, Pages 170-184

  El Amraoui, Aziz ^a   Petit, Christine ^a  

^a INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN;

DISEASE CLASSIFICATION; GENE LOCUS; HEARING IMPAIRMENT; HUMAN; PATHOPHYSIOLOGY; REVIEW; USHER SYNDROME; VESTIBULAR DISORDER;

EID: 0030712247     PISSN: 09637133     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (64)

1. ASHMORE, J. (1995) Hearing. A gene for deaf ears? Curr. Biol. 5, 716-18.
2. AVRAHAM, K.B., HASSON, T., STEEL, K.P., KINGSLEY, D.M., RUSSELL, L.B., MOOSEKER, M.S., COPELAND, N.G. AND JENKINS, N.A. (1995) The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nature Genet. 11, 369-75.
3. BOUGHMAN, J.A., VERNON, M. AND SHAVER, K.A. (1983) Usher syndrome: definition and estimate of prevalence from two high-risk populations. J. Chronic. Dis. 36, 595-603.
4. CHAÏB, H., KAPLAN, J., GERBER, S., VINCENT, C., AYADI, H., SLIM, R., MUNNICH, A., WEISSENBACH, J. AND PETIT, C. (1997) A newly identified locus for Usher syndrome type I, USHIE, maps to chromosome 21q21. Hum. Mol. Genet. 6, 27-31.
5. CHAÏB, H., PLACE, C., SALEM, N., DODÉ, C., CHARDENOUX, S., WEISSENBACH, J., EL ZIR, E., LOISELET, J. AND PETIT, C. (1996) Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum. Mol. Genet. 5, 1061-4.
6. CHANG, B., HECKENLIVELY, J.R., HAWES, N.L. AND RODERICK, T.H. (1993) New mouse primary retinal degeneration (rd-3). Genomics. 16, 45-9.
7. CHEN, Z.Y., HASSON, T., KELLY, P.M., SCHWENDER, B.J., SCHWARTZ, M.F., RAMAKRISHNAN, M., KIMBERLING, W.J., MOOSEKER, M.S. AND COREY, D.P. (1996) Molecular cloning and domain structure of human Myosin VIIA, the gene product defective in Usher syndrome type 1B. Genomics. 36, 440-8.
8. CHENEY, R.E., RILEY, M.A. AND MOOSEKER, M.S. (1993) Phylogenetic analysis of the myosin superfamily. Cell Motil. Cytoskeleton 24, 215-23.
9. COPE, M.J., WHISSTOCK, J., RAYEMENT, I., AND KENDRICK-JONES, J. (1996) Conservation within the motor domain: implications for structure and function Structure 4, 969-87.
10. CROZET, F., EL-AMRAOUI, A., BLANCHARD, S., LENOIR, M., RIPOLL, C., VAGO, P., HAMEL, C., FIZAMES, C., LEVI-ACOBAS, F., DEPÉTRIS, D., MATTEI, M.-G., WEIL, D., PUJOL, R. AND PETIT, C. (1997) Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. Genomics 40, 332-41.
11. DAVENPORT, S.L., O'NUALLAIN, S., OMENN, G.S. AND WILKUS, R.J. (1978) Usher syndrome in four hard-of-hearing siblings. Pediatrics 62, 578-83.
12. DE HAAS,E.B.H., VAN LITH, G.H.M., RIJNDERS, J., RÚMKE, A.M.L. AND VOLMER, C.H. (1970) Usher's syndrome with special references to heterozygous manifestations. Doc. Optholmol. 28, 166-90.
13. EL-AMRAOUI, A., SAHLY, I., PICAUD, S., SAHEL, J., ABITBOL, M. AND PETIT, C. (1996) Human Usher IB/mouse shaker-1; the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum. Mol. Genet. 5, 1171-8.
14. GIBSON, F., WALSH, J., MBURU,P., VARELA, A., BROWN, K.A., ANTONIO, M., BEISEL, K.W., STEEL, K.P. AND BROWN, S.D.M. (1995) A type VII myosin encoded by the mouse deafness gene Shaker-1. Nature 374, 62-4.
15. GILLESPIE, P.G. (1996) Deaf and dizzy mice with mutated myosin motors. Nature Med. 2, 27-9.
16. GILLESPIE, P.G., WAGNER, M.C. AND HUDSPETH, A.J. (1993) Identification of a 120 kd hair-bundle myosin located near stereociliary tips. Neuron. 11, 581-94.
17. GOODSON, H.V., VALETTI, C. AND KREIS, T.E. (1997) Motors and membrane traffic. Curr. opin. Cell Biol. 9, 18-28.
18. GUILFORD, P., AYADI, H., BLANCHARD, S., CHAÏB, H., LE PASLIER, D., WEISSENBACH, J., DRIRA, M. AND PETIT, C. (1994) A human gene responsible for neurosensory, nonsyndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum. Mol. Genet. 3, 989-93.
19. HALLGREN, B. (1959) Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases. A clinical and geneticostatistical study. Acta Psychiatr. Scand. (Suppl) 138, 5-101.
20. HASSON, T. AND MOOSEKER, M.S. (1995) Molecular motors, membrane movements and physiology: emerging roles for myosins. Curr. Opin. Cell Biol. 7, 587-94.
21. HASSON, T. AND MOOSEKER, M.S. (1996) Vertebrate unconventional myosins. J. Biol. Chem. 271, 16431-4.
22. HACKENLIVELY, J.R., CHANG, B., ERWAY, L.C., PENG, C., HAWES, N.L., HAGEMAN, G.S. AND RODERICK, T.H. (1995) Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type 1 reported at human chromosome 11 p 15. Proc. Natl Acad. Sci. USA 92, 11100-4.
23. HUDSPETH. A.J. (1989) How the ear's works work. Nature. 341, 397-404.
24. JOENSUU, T., BLANCO, G., PAKARINEN, L., SISTONEN, P., KAARIAINEN, H., BROWN, S., DE LA CHAPELLE, A. AND SANKILA, E.M. (1996) Refined mapping of the Usher syndrome type III locus on chromosome 3, Exclusion of candidate genes, and identification of the putative mouse homologous region. Genomics. 38, 255-263.
25. KAPLAN, J., GERBER, S., BONNEAU, D., ROZET, J.M., DELRIEU, O., GRIARD, M.L., DOLLFUS, H., GHAZI, I., DUFIER, J.L., FREZAL, J. AND MUNNICH, A. (1992). A gene for Usher syndrome type 1 (USHIA) maps to chromosome 14q. Genomics, 14, 979-87.
26. KARJALAINEN, S., PAKARINEN, L., TERASVIRTA, M., KAARIAINEN, H. AND VARTIAINEN, E. (1989) Progressive hearing loss in Usher's syndrome. Ann. Otol. Rhinol. Laryngol. 98, 863-66.
27. KIMBERLING, W.J. AND MOLLER, C. (1995) Clinical and molecular genetics of Usher syndrome. J. Am. Acad. Audiol. 6, 63-72.
28. KIMBERLING, W.J., MOLLER, C.G., DAVENPORT, S., PRILUCK, I.A., BEIGHTON, P.M., GREENBERG, J., REARDON, W., WESTON, M.D., KENYON, J.B., GRUNKEMEYER, J.A., PIEKE DAHL, S.A., OVERBECK, L.D., BLACKWOOD, D.J., BROWER, A.M., HOOVER, D.M., ROWLAND, P. AND SMITH, R.J.H. (1992) Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 14, 988-94.
29. KIMBERLING, WW.J., WESTON, M.D., MOLLER, C., DAVENPORT, S.L., SHUGART, Y.Y., PRILUCK, I.A., MARTINI, A., MILANI, M. AND SMITH, R.J. (1990) Localization of Usher syndrome type II to chromosome 1q. Genomics. 7, 245-9.
30. KIMBERLING, W.J., WESTON, M.D., MOLLER, C., VAN AAREM, A., CREMERS, C.W., SUMEGI, J., ING, P.S., CONNOLLY, C., MARTINI, A., MILANI, M., TAMAYO, M.L., BERNA, J., GREENBERG, J. AND AYUSO, C. (1995) Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. Am. J. Hum. Genet. 56, 216-23.
31. KUIVANIEMI, H., TROMP, G., BERGFELD, W.F., KAY, M. AND HELM, T.N. (1995) Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping. J. Invest. Dermatol. 105, 352-6.
32. LANGFORD, G. (1995) Actin- and microtubule-dependent organelle motors: interrealtionship between two motility systems. Curr. Opin. Cell. Biol. 7, 82-8.
33. LEVY, G., LEVI-ACOBAS, F., BLANCHARD, S., GERBER, S., LARGET-PIET, D., CHENAL, V., LIU, X.-Z., NEWTON, V., STEEL, K.P., BROWN, S.D.M., MUNNICH, A., KAPLAN, J., PETIT, C. AND WEIL, D. (1997) Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum. Mol. Genet. 6, 111-16.
34. LEWIS, R.A., OTTERUD, B., STAUFFER, D., LALOUEL, J.M. AND LEPPERT, M. (1990) Mapping recessive ophtalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome Iq. Genomics 7, 250-6.
35. MANDELL, J.W., TOWNES-ANDERSON, E., CZERNIK, A.J., CAMERON, R., GREENGARD, P. AND DE CAMILLI, P. (1990) Synapsins in the vertebrate retina: absence from ribbon synapses and heterogeneous distribution among conventional synapses. Neuron 5, 19-33.
36. MBURU, P., LIU, X.Z., WALSH, J., SAW, D.J., COPE, J.M., GIBSON, F., KENDRICK-JONES, J., STEEL, K.P. AND BROWN, S.D.M. (1997) Mutation analysis of the mouse myosin VIIA deafness gene-a putative myosin motor-kinesin tail hybrid. Gene and Function, in press.
37. MERIN, S., ABRAHAM, F.A. AND AUERBACK, E. (1974) Usher's and Hallgren's syndrome. Act. Genet. Med. Gremellol. (Roma) 23, 49-55
38. MOLLER, C.G., KIMBERLING, W.J., DAVENPORT, S.L., PRILUCK, I., WHITE, V., BISCONE-HALTERMAN, K., ODVIST, L.M., BROOKHOUSER, P.E., LUND, G. AND GRISSOM, T.J. (1989) Usher syndrome: an otoneurologic study. Laryngoscope 99, 73-9.
39. NUUTILA, A. (1970) Dystrophia retinae pigmentosa-dyscusis syndrome (DRD); a study of Usher or Hallgren syndrome. J. Hum. Genet. 118, 57-88.
40. PAKARINEN, L., KARJALAINEN, S., SIMOLA, K.O., LAIPPALA, P. AND KAITALO, H. (1995) Usher's syndrome type 3 in Finland. Laryngoscope. 105, 613-17.
41. PETIT, C. (1996) Genes responsible for human hereditary deafness: symphony of thousand. Nature Genet. 14, 385-91
42. PIAZZA, L., FISHMAN, G.A., FARBER, M., DERLACKI, D. AND ANDERSON, R.J. (1986) Visual acuity loss in patients with Usher's syndrome. Arch. Opthalmol. 104, 1336-9.
43. PORTERA-CAILLIAU, C., SUNG, C.H., NATHANS, J. AND ADLER, R. (1994) Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa. Proc. Natl Acad. Sci. USA. 91, 974-8.
44. SAHLY, I., El-AMRAOUI, A., ABITBOL, M., PETIT, C. AND DUFIER, J-.L.(1997) Expression of myosin VIIA during mouse embryogenesis. Anat. Embryol. 196, 59-70
45. SANKILA, E.-M., PAKARINEN, L., KÄÄRIÄINEN, H., AITTOMÄKI, K., KARJALAINEN, S., SISTONEN, P. AND DE LA CHAPELLE, A. (1995)Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum. Mol. Genet. 4, 93-8.
46. SMITH, R.J.H., LEE, E.G., KIMBERLING, W.J., DAIGER, S.P., PELIAS, M.Z., KEATS, B.J.B., JAY, M., BIRD, A., REARDON, W., GUEST, M., AYYAGARI, R. AND HEJTMANCIK, J.F. (1992) Localization of two genes for Usher syndrome type I to chromosome 11. Genomics. 14, 995-1002.
47. SMITH, R.J., BERLIN, C.I., HEJTMANCIK, J.F., KEATS, B.J., KIMBERLING, W.J., LEWIS, R.A., MOLLER, C.G., PELIAS, M.Z. AND TRANEBJAERG, L. (1994) Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am. j. Med. Genet. 50, 32-8.
48. SOBKOWICZ, H.M. (1992) The development of innervation in the organ of Corti. In: R. Romand (ed) Development of auditory and vestibular systems. (R. Romand, ed.), Amsterdam, Vol 2, pp. 59-100.
49. SOLC, C.K., DERFLER, B.H., DUYK, G.M. AND COREY, D.P. (1994) Molecular cloning of myosins from the bullfrog saccular macula: a candidate for the hair cell adaptation motor. Auditory Neurosci. 1, 63-75.
50. STEEL, K.P. (1995) Inherited hearing defects in mice. Annu. Rev. Genetics 29, 675-701.
51. STEEL, K.P. AND BOCK, G.R. (1983) Hereditary inner-ear abnormalities in animals. Arch. Otolaryngol. 109, 22-9.
52. STEEL, K.P., SELF,T., MAHONY, M., FLEMING, J., PEARCE, A., HARVEY, D., CABLE, J. AND BROWN, S.D.M. (1995) Effects of myosin mutations on cochlear development and function. In: Molecular Biology of hearing and Deafness, Bethesda, USA; October 6-8, p. 9.
53. TAKEUCHI, K., KAWASHIMA, A., NAGAFUCHI, A. AND TSUKITA, S. (1994) Structural diversity of band 4.1 superfamily members. J. Cell Sci. 107, 1921-8.
54. TITUS, M.A. (1997) Unconventional myosins: new frontiers in actin-based motors. Trends Cell Biol. 7, 119-23.
55. TSUKITA, S., YONEMURA, S. AND TSUKITA,S. (1997) ERM (ezrin/radixin/moesin) family: from cytoskeletal to signal transduction. Curr. Opin. Cell biol. 9, 70-5.
56. USHER, C. (1914) On the inheritance of retinis pigmentosa with notes of cases. R. Lond. Opthalmol. Hosp. Rep. 19, 130-236.
57. VERNON, M. (1969) Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literayure survey. J. Chronic. Dis. 22, 133-51.
58. VON GRAEFE, A. (1858) Vereinzelte Beobachtungen und Bemerkungen. Exzeptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netszhaut. Von Graefe Arch. Klin. Ophtal. 4, 250-3.
59. WAYNE,S., DER KALOUSTIAN, V.M., SCHLOSS, M., POLOMENO, R., SCOTT, D.A., HEJTMANCIK, J.F., SHEFFIELD, V.C. AND SMITH, R.J.H. (1996) Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum. Mol. Genet. 5, 1689-92.
60. WEIL, D., BLANCHARD, S., KAPLAN, J., GUILFORD, P., GIBSON, F., WALSH, J., MBURU, P., VARELA, A., LEVILLIERS, J., WESTON, M.D., KELLEY, P.M., KIMBERLING, W.J., WAGENAAR, M., LEVI-ACOBAS, F., LARGET-PIET, D., MUNNICH, A., STEEL, K.P., BROWN, S.D.M. AND PETIT, C. (1995) Defective myosin VIIA gene responsible for Usher syndrome type IB. Nature 374, 60-1.
61. WEIL, D., KÜSSEL, P., BLANCHARD, S., LÉVY, G., LEVI-ACOBAS, F., DRIRA, M., AYADI, H. AND PETIT, C. (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin VIIA gene. Nature Genet. 16, 191-3.
62. WEIL, D., D'ALESSIO, M., RAMIREZ, F. AND EYRE, D.R. (1990) Structural and functional characterization of a splicing mutation in the pro-alpha 2(1) collagen gene of an Ehlers-Danlos type VII patient. J. Biol. Chem. 265, 16007-11.
63. WEIL, D., LEVY, G., SAHLY, I., LEVI-ACOBAS, F., BLANCHARD, S., EL-AMRAOUI, A., CROZET, F., PHILIPPE, H., ABITBOL, M. AND PETIT, C. (1996) Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc. Natl Acad. Si. USA 93, 3232-7.
64. WESTON, M.D., KELLY, P.M., OVERBECK, L.D., WAGENAAR, M., ORTEN, D.J., HASSON, T., CHAN, Z.-Y., COREY, D., MOOSEKER, M.S., SUMEGI, J., MOLLER, C., JACOBSON, S.G., GORIN, M.B. AND KIMBERLING, W.J. (1996) Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am. J. Hum. Genet. 59, 1074-83.