Molecular genetic dissection of mouse unconventional myosin-VA: Head region mutations

Genetics

Volumn 148, Issue 4, 1998, Pages 1951-1961

  Huang, Jian Dong ^a   Cope, M Jamie T V ^b,g   Mermall, Valerie ^c   Strobel, Marjorie C ^a   Kendrick Jones, John ^b   Russell, Liane B ^e   Mooseker, Mark S ^c,d   Copeland, Neal G ^a   Jenkins, Nancy A ^a,f  

^a NATIONAL CANCER INSTITUTE   (United States)

^b MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

^c YALE UNIVERSITY   (United States)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e OAK RIDGE NATIONAL LABORATORY   (United States)

^f Bldg 539   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CRYSTALLOGRAPHY; FEMALE; GENE LOCUS; GENE MAPPING; HAIR COLOR; HEREDITARY ATAXIA; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MOUSE; MUTANT; NEUROLOGIC DISEASE; NONHUMAN; OPISTHOTONUS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALLELES; ANIMALS; CRYSTALLOGRAPHY, X-RAY; FEMALE; GENE EXPRESSION; HAIR COLOR; INTERMEDIATE FILAMENT PROTEINS; MALE; MICE; MODELS, MOLECULAR; MUTAGENESIS; MYOSIN HEAVY CHAINS; MYOSIN TYPE V;

ANIMALIA; ATAXIA; RODENTIA;

EID: 0031893562     PISSN: 00166731     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (40)

1. ATKINSON, S. J., S. K. DOBERSTEIN and T. D. POLLARD, 1992 Moving off the beaten tracks. Curr. Bio. 2: 326-328.
2. AUSUBEL, F. M., R. BRENT, R. E. KINGSTON, D. D. MOORK.J. G. SEIDMAN et al., 1997 Preparation and Analysis of DNA, pp. 2.9.1 in Current Protocols in Molecular Biology, edited by F. M. AUSUBEL, R. BRENT, R. E. KINGSTON, D. D. MOORE, J. G. SEIDMAN, J. A. SMITH and K. STRUHL. John Wiley & Sons, New York.
3. AVRAHAM, K. B., T. HASSON, K. P. STEEL, D. M. KINGSLEY, L. B. RUSSELL et al., 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. CHENEY, R. E. K., M. K. O'SHEA, J. E. HEUSER, M. V. COELHO, J. S. WOLENSKI et al., 1993 Brain myosin-V is a two-headed unconventional myosin with motor activity. Cell 75: 13-23.
5. CHURCH, G. M., and W. GILBERT, 1984 Genomic sequencing. Proc. Natl. Acad. Sci. USA 81: 1991-1995.
6. COPE, M. J. T., J. WHISSTOCK, I. RAYMENT and J. KENDRICK-JONES, 1996 Conservation within the myosin motor domain: implications for structure and function. Structure 4: 969-987.
7. DEKKER-OHNO, K., S. HAYASAKA, Y. TAKAGISHI, S. ODA, N. WAKASUGI et al., 1996 Endoplasmic reticulum is missing in dendritic spines of purkinje cells of the ataxic mutant rat. Brain Res. 714: 226-230.
8. EPSTEIN, N. D., G. M. COHN, F. CYRAN and L. FANANAPAZIR, 1992 Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu - Val mutation and a 403Arg - Gln mutation. Circulation 86: 345-352.
9. ESPREAFICO, E. M., R. E. CHENEY, M. MATTEOLI, A. A. NASCIMENTO, P. V. DE CAMILLI et al., 1992 Primary structure and cellular localization of chicken brain myosin-V (p190), an unconventional myosin with calmodulin light chains. J Cell Biol. 119: 1541-1557.
10. EVANS, L. L., J. HAMMER and P. C. BRIDGMAN, 1997 Subcellular localization of myosin V in nerve growth cones and outgrowth from dilute-lethal neurons. J. Cell Biol. 110: 439-449.
11. FANANAPAZIR, L., M. C. DALAKAS, F. CYRAN, G. COHN and N. D. EPSTEIN, 1993 Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc. Natl. Acad. Sci. USA 90: 3993-3997.
12. FISHER, A. J., C. A. SMITH, J. B. THODEN, R. SMITH, K. SUTOH et al., 1995 X-ray structures of the myosin motor domain of Dictyostelium discoideum complexed with MgADP.BeFx and MgADP.AlF4-. Biochemistry 34: 8960-8972.
13. GIBSON, F., J. WALSH, P. MBURU, A. VARELA, K. A. BROWN et al., 1995 A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374: 62-64.
14. HASSON, T., and M. S. MOOSEKER, 1994 Porcine myosin-VI: characterization of a new mammalian unconventional myosin. J. Cell Biol. 127: 425-440.
15. HUANG, J.-D., V. MERMALL, M. C. STROBEL, L. B. RUSSELL, M. S. MOOSEKER et al., 1998 Molecular genetic dissection of mouse unconventional myosin-VA: Tail region mutation. Genetics 148: 1963-1972.
16. LAEMMLI, U. K., 1970 Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227: 680-685.
17. LANGFORD, G. M., 1995 Actin-and microtubule-dependent organelle motors: interrelationships between the two motility systems. Curr. Opin. Cell Biol. 7: 82-88.
18. LIU, X., J. WALSH, P. MBURU, J. KENDRICK-JONES, M. J. T. V. COPE et al., 1997 Mutations in the myosin VIIA gene causing non-syndromic deafness. Nature Genet. 16: 188-190.
19. MARKER, P.C., K. J. SEUNG, A. E. BLAND, L. B. RUSSELL and D. M. KINGSLEY, 1997 Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice. Genetics 145: 435-443.
20. MERCER, J. A., P. K. SEPERACK, M. C. STROBEL, N. G. COPELAND and N. A. JENKINS, 1991 Novel myosin heavy chain encoded by murine dilute coat colour locus. Nature 349: 709-713. (erratum: Nature 352:547).
21. PROVANCE, JR., D. W., M. WEI, V. IPE and j. A. MERCER, 1996 Cultured melanocytes from dilute mutant micc exhibit dendritic morphology and altered melanosome distribution. Proc. Natl. Acad. Sci. USA 93: 14554-14558.
22. RAYMENT, I., H. M. HOLDEN, M. WHITTAKER, C. B. YOHN, M. LORENZ et al, 1993a Structure of the actin-myosin complex and its implications for muscle contraction. Science 261: 58-65.
23. RAYMENT, I., W. R. RYPNIEWSKI, K. SCHMIDT-BASE, R. SMITH, D. R. TOMCHICK et al., 1993b Three-dimensional structure of myosin subfragment-1: a molecular motor. Science 261: 50-58.
24. RAYMENT, I., H. M. HOLDEN, J. R. SELLERS, L. FANANAPAZIR and N. D. EPSTEIN, 1995 Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hyper-trophic cardiomyopathy. Proc. Natl. Acad. Sci. USA 92: 3864-3868.
25. RUSSELL, L.B., 1971 Definition of function units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations. Mutat. Res. 11: 107-123.
26. RUSSELL, L. B., and W. L. RUSSELL, 1948 A study of the physiological genetics of coat color in the mouse by means of the dopa reaction in frozen sections of skin. Genetics 33: 237-262.
27. SEPERACK, P. K., J. A. MERCER, M. C. STROBEL, N. G. COPELAND and N. A. JENKINS, 1995 Retroviral sequences located within an intron of the dilute gene alter dilute expression in a tissue-specific manner. EMBO J. 14: 2326-2332.
28. SHIBUYA, T., and K. MORIMOTO, 1993 A review of the genotoxicity of 1-ethyl-1-nitrosourea. Mutat. Res. 297: 3-38.
29. SMITH, C. A., and I. RAYMENT, 1995 X-ray structure of the magnesium(II)-pyrophosphate complex of the truncated head of Dtctyostelium discoideum myosin to 2.7 A resolution. Biochemistry 34: 8973-8981.
30. SMITH, C. A., and I. RAYMENT, 1996 X-ray structure of the magnesium(II).ADP.vanadate complex of the Dictyostelium discoideum myosin motor domain to 1.9 A resolution. Biochemistry 35:5404-5417.
31. STROBEL, M. C., P. K. SEPERACK, N. G. COPELAND and N. A. JENKINS, 1990 Molecular analysis of two mouse dilute locus deletion mutations: spontaneous dilute lethal20J and radiation-induced dilute prenatal lethal Aa2 alleles. Mol. Cell. Biol. 10: 501-509.
32. l) gene attacks a Ca2+ store in the dendritic spine of Purkinje cells in mice. Neurosci. Lett. 215: 169-172.
33. TOWBIN, H., T. STAEHELIN and J. GORDON, 1979 Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc. Natl. Acad. Sci. USA 76: 4350-4354.
34. VIKSTROM, K. L., and L. A. LEINWAND, 1996 Contractile protein mutations and heart disease. Curr. Opin. Cell. Biol. 8: 97-105.
35. WEIL, D., S. BLANCHARD, J. KAPLAN, P. GUILFORD, F. GIBSON et al., 1995 Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374: 60-61.
36. WEIL, D., P. KUSSEL, S. BLANCHARD, G. LEVY, F. LEVI-ACOBAS et al., 1997 The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nature Genet. 16: 191-193.
37. WESTON, M. D., P. M. KELLEY, L. D. OVERBECK, M. WAGENAAR, D. J. ORTEN et al., 1996 Myosin VIIA Mutation Screening In 189 Usher Syndrome Type 1 Patients. Am. J. Hum. Genet. 59: 1074-1083.
38. WoLENSKI, J. S., R. E. CHENEY, P. FORSCHER and M. S. MOOSEKER, 1993 In vitro motilities of the unconventional myosins, brush border myosin-I, and chick brain myosin-V exhibit assay-dependent differences in velocity. J. Exp. Zool. 267: 33-39.
39. WU, X. F., B. BOWERS, Q. WEI, B. KOCHER and J. A. HAMMER, 1997 Myosin V associates with melanosomes in mouse melanocytes-evidence that myosin V is an organelle motor. J. Cell. Sci. 110: 847-859.
40. XIE, X., D. H. HARRISON, I. SCHLICHTING, R. M. SWEET, V. N. KALABOKIS et al., 1994 Structure of the regulatory domain of scallop myosin at 2.8 A resolution. Nature 368: 306-312.