Myosins and deafness

Journal of Muscle Research and Cell Motility

Volumn 20, Issue 3, 1999, Pages 241-248

  Rȩdowicz, Maria J ^a  

^a NENCKI INSTITUTE OF EXPERIMENTAL BIOLOGY   (Poland)

Author keywords

Deafness; Mutations; Myosin VI; Myosin VIIA; Myosin XV; Unconventional myosin

Indexed keywords

ISOPROTEIN; MYOSIN;

CELLULAR DISTRIBUTION; CONGENITAL DEAFNESS; CORTI ORGAN; GENE MUTATION; HAIR CELL; HEARING; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN STRUCTURE; REVIEW; TISSUE DISTRIBUTION;

ANIMALS; DEAFNESS; DYNEIN ATPASE; HUMANS; MICE; MUTATION; MYOSIN HEAVY CHAINS; MYOSINS;

MAMMALIA;

EID: 0032790510     PISSN: 01424319     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005403725521     Document Type: Review

References (39)

1. Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M and Bonne-Tamir B (1997) Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher IB families from diverse origins. Am J Hum Genet 61: 813-821.
2. Avraham KB, Hasson T, Sobe T, Balsara B, Testa JR, Skovrak AB, Morton CC, Copeland NG and Jenkins NA (1997) Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice. Hum Mol Genet 6: 1225-1231.
3. Avraham KB, Hasson T, Steel KP, Kingsley DM, Russel LB, Mooseker MS, Copeland NG and Jenkins NA (1995) The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nature Genet 11: 369-375.
4. Chen ZY, Hasson T, Kelley PM, Schwender BJ, Schwartz MC, Ramakrishnan M, Kimberling WJ, Mooseker MS and Corey DP (1996) Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome IB. Genomics 36: 440-448.
5. Cuevas JM, Espinos C, Millan JM, Sanchez F, Trujillo MJ, Garcia-Sandoval B, Ayuso C, Nayera C and Beneyto M (1998) Detection of a novel Cys628Stop mutation of the myosin VIIA gene in Usher syndrome type Ib. Mol Cell Probes 12: 417-420.
6. Derosier DJ, Tilney LG and Egelman E (1980) Actin at the inner ear: the remarkable structure of the stereocilium. Nature 287: 291-296.
7. Eudy JD, Weston MD, Yao S, Hoover DM, Rehm H, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ and Sumegi J (1998) Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280: 1753-1757.
8. Gibson F, Walsh J, Mburu P, Varela A, Brown KA, Antonio M, Beisel KW, Steel KP and Brown SDM (1995) A type VII myosin encoded by the mouse deafness gene shaker-1. Nuture 374: 62-64.
9. Gillespie PG (1996) Deaf and dizzy mice with mutated myosin motors. Nature Med 2: 27-29.
10. Gillespie PG, Wagner MC and Hudspeth AJ (1993) Identification of a 120 kd hair-bundle myosin located near stereociliary tips. Neuron 11: 581-594.
11. Hasson T, Gillespie PG, Garcia JA, Macdonald RB, Zhao Y-D, Yee AG, Mooseker MS and Corey DP (1997a) Unconventional myosins in inner-ear sensory epithelia. J Cell Biol 137: 1287-1307.
12. Hasson T, Walsh J, Cable J, Mooseker MS, Brown SDM and Steel KP (1997b) Effects of shaker-1 mutations on myosin VIIa protein and mRNA expression. Cell Motil Cytoskel 37: 127-138.
13. Hunter DG, Fishman GA, Mehta RS and Kretzer FI. (1986) Abnormal sperm and photoreceptor axonemes in Usher's syndrome. Arch Ophtalmol 104: 385-389.
14. Kelley PM, Weston MD, Chen Z-Y, Orten DJ, Hasson T, Overbeck LD, Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J and Kimberling WJ (1997) The genomic structure of the gene defective in Usher syndrome IB (MYO7A). Genomics 40: 73-79.
15. Kelsell DP, Dunlop J, Stevense HP, Lench NJ, Liang JN, Parry G, Mueller RF and Leigh IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387: 80-83.
16. Levy G, Levi-Acobas F, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, 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: 111-116.
17. Liu X, Vansant G, Udovichenko IP, Wolfrumm U and Williams DS (1997a) Myosin VIIA, the product of the Usher IB syndrome gene, is concentrated in the connecting cilia of photoreceptor cells. Cell Motil Cytoskel 37: 240-252.
18. Liu X-Z, Walsh J, Mburu B, Kendrick-Jones J, Cope MJTV, Steel KP and Brown SDM (1997b) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nature Genet 16: 188-190.
19. Liu X-Z, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP and Brown SDM (1997c) Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nature Genet 17: 268-269.
20. Liu X-Z, Newton VE, Steel KP and Brown SDM (1997d) Identification of a new mutation of the myosin VII head region in Usher syndrome type 1. Hum Mutat 10: 168-170.
21. Liu X, Ondek B and Williams DS (1998) Mutant myosin VIIa causes defective melanosome distribution in the RPF of shaker-1 mice. Nature Genet 19: 117-118.
22. Lynch ED, Lee MK, Morrow JE, Welesh PL, Leon PE, King M-C (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 278: 1315-1318.
23. Mermall V, Menall J and Miller KG (1994) Transport of cytoplasmic particles catalyzed by an unconventional myosin in living Drosophila embryos. Nature 369: 560-562.
24. Mermall V, Post PL and Mooseker MS (1998) Unconventional myosins in cell movement, membrane traffic, and signal transduction. Science 279: 527-533.
25. Metcalf AB, Chelliah Y and Hudspeth AJ (1994) Molecular cloning of a myosin Iβ isozyme that may mediate adaptation by hair cells of the bullfrog's internal ear. Proc Natl Acad Sci USA 91: 11821-11825.
26. Nuckolls GH, Turner CE and Burridge K (1990) Functional studies of of the domains of talin. J Cell Biol 100: 1635-1634.
27. Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Touchman JW, Lyons RH, Noben-Trauth K, Friedman TB and Camper SA (1998) Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 280: 1444-1447.
28. Self T, Mahony M, Fleming J, Walsh J, Brown STM and Steel KP (1998) Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 125: 557-566.
29. Sellers JR (1999) Protein Profile: Myosin, 2nd ed. Oxford University Press, Oxford, UK.
30. Steel KP and Brown SDM (1996) Genetics of deafness. Curr Opin Neurobiol 6: 520-525.
31. Tilney LG, Derosier DJ and Mulroy MJ (1980) The organization of act in filaments in the stereocilia of cochlear hair cells. J Cell Biol 86: 244-259.
32. Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedrnan TB, King M-C, Avraham KB (1998) Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279: 1950-1954.
33. Verhoeven K, Van Laer L, Kirschhoher K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJH, Somers T, Offeciers FF, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ and van Camp G (1997) Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nature Genet 19: 60-62.
34. Wang A, Liang Y, Fridel RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA and Friedman TB (1998) Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3, Science 280: 1447-1451.
35. Weil D, Kuessel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi II and Petit C (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher IB syndrome are allelic defects of the myosin-VIIA gene, Nature Genet 16: 191-192.
36. Weil D, Levy O, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozot F, Philippe H, Abitbol M and Petit C (1996) Human myosin VIIA responsible for the Usher IB syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc Natl Acad Sci 93: 3232-3237.
37. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Plet D, Munnich A, Steel KP, Brown SDM and Petit C (1995) Defective myosin VIIA gene responsible for Usher syndrome type IB. Nature 374: 60-61.
38. Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Correy D, Mooscker MS, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB and Kimberling WJ (1996) Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet 59: 1074-1083.
39. Wu X, Bowers B, Wei Q, Kocher B and Hammer JA III (1997) Myosin V associates with melanosomes in mouse melanocytes: evidence that myosin V is an organelle motor. J Cell Sci 110: 847-859.