Functional analysis of the mutations in the human cardiac β-myosin that are responsible for familial hypertrophic cardiomyopathy implication for the clinical outcome

Journal of Clinical Investigation

Volumn 98, Issue 12, 1996, Pages 2866-2873

  Sata, Masataka ^a   Ikebe, Mitsuo ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

Cardiomyopathy, hypertrophic; Genetics, medical; Mutagenesis; Myosin heavy chains; Point mutation

Indexed keywords

ACTIN; ADENOSINE TRIPHOSPHATASE; BETA MYOSIN; MYOSIN; MYOSIN HEAVY CHAIN; MYOSIN LIGHT CHAIN; UNCLASSIFIED DRUG;

ACTIN FILAMENT; ADULT; ANIMAL CELL; ARTICLE; CASE REPORT; DISSOCIATION CONSTANT; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL;

ACTINS; ADENOSINE TRIPHOSPHATASES; BACULOVIRIDAE; BINDING SITES; CARDIOMYOPATHIES; CLONING, MOLECULAR; DNA PRIMERS; DNA, COMPLEMENTARY; ELECTROPHORESIS, POLYACRYLAMIDE GEL; GENE EXPRESSION; GENETIC VECTORS; HUMANS; MODELS, MOLECULAR; MYOCARDIUM; MYOSIN LIGHT CHAINS; MYOSINS; POINT MUTATION; RECOMBINANT PROTEINS; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 0030454149     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119115     Document Type: Article

References (42)

1. Maron, B.J., R.O. Bonow, R.O. Cannon III, M.B. Leon, and S.E. Epstein. 1987. Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology, and therapy. N. Engl. J. Med. 316:780-789, 844-852.
2. Clark, C.E., W.L. Henry, and S.E. Epstein. 1973. Familial prevalence and genetic transmission of idiopathic hypertrophic subaortic stenosis. N. Engl. J. Med. 289:709-714.
3. Geisterfer-Lawiance, A.A.T., S. Kass, G. Tanigawa, H.P. Vosberg, W. McKenna, C.E. Seidman, and J.G. Seidman. 1990. A molecular basis for familial hypertrophic cardiomyopathy: a β-cardiac myosin heavy chain gene missense mutation. Cell. 12:999-1006.
4. Schwartz, K., L. Carrier, P. Guicheney, and M. Komajda. 1995. Molecular basis of familial cardiomyopathy. Circulation. 91:532-540.
5. Marian, A.J., and R. Roberts. 1995. Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation. 92:1336-1347.
6. Watkins, H., T. Rosenzweig, D.S. Hwang, T. Levi, W. McKenna, C.E. Seidman, and J.G. Seidman. 1992. Characteristic and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N. Engl. J. Med. 326:1106-1114.
7. Epstein, N.D., G.M. Cohn, F. Cyran, and L. Fananapazir. 1992. Difference in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene: a 908Leu-Val mutation and a 403 Arg-Gln mutation. Circulation. 86:345-352.
8. Anan, R., G. Greve, L. Thierfelder, H. Watkins, W.J. McKenna, S. Solomon, C. Vecchio, H. Shono, S. Nakao, H. Tanaka, et al. 1994. Prognostic implications of novel β myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J. Clin. Invest. 93:280-285.
9. Fananapazir, L., and N.D. Epstein. 1994. Genotype-phenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain mutations. Circulation. 89:22-32.
10. Cuda, G., L. Fananapazr, W.S. Zhu, J.R. Sellers, and N.D. Epstein. 1993. Skeletal muscle expression and function of β-myosin in hypertrophic cardiomyopathy. J. Clin. Invest. 91:2861-2865.
11. Sweeney, H.L., A.J. Straceski, L.A. Leinwand, B.A. Tikunov, and L. Faust. 1994. Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction. J. Biol. Chem. 269:1603-1605.
12. Kurabayashi, M., H. Tsuchimochi, I. Komuro, F. Takaku, and Y. Yazaki. 1988. Molecular cloning and characterization of human cardiac α- and β- form myosin heavy chain complementary DNA clones. J. Clin. Invest. 82:524-531.
13. Schwartz, K., A.M. Lompre, P. Bouveret, C. Wisnewsky, and R.G. Whalen. 1982. Comparison of rat cardiac myosin at fetal stages in young animals and in hypotlhyroid adults. J. Biol. Chem. 193:14412-14418.
14. Sata, M., S. Sugiura, H. Yamashita, S. Momomura, and T. Seizawa. 1993. Dynamic interaction between cardiac myosin isoforms modifies velocity of actomyosin sliding in vitro. Circ Res. 73:696-704.
15. Harris, D.E., S.S. Works, R.K. Wright, N.R. Alpert, and D.M. Warshaw. 1994. Smooth, cardiac and skeletal muscle myosin force and motor generation assessed by cross-bridge mechanical interaction in vitro. J. Muscle Res. Cell Motil. 15:11-19.
16. VanBuren, P., D.E. Harris, N.R. Alpert, and D.M. Warshaw. 1995. Cardiac V1 and V3 myosins differ in their hydrolytic and mechanical activities in vitro. Circ. Res. 77:439-444.
17. McNally, E.M., R. Kraft, M. Bravo-Zehnder, D.A. Taylor, and L.A. Leinwand. 1989. Full-length rat alpha and beta cardiac myosin heavy chain sequences: Comparisons suggest a molecular basis for functional difference. J. Mol. Biol. 210:665-670.
18. Weeds, W.G., and R.S. Taylor. 1975. Separation of subfragment-1 isoenzymes from rabbit skeletal muscle myosin. Nature (Lond.). 257:54-56.
19. 19' Spudich, J.A., and S. Watt. 1971. The regulation of rabbit skeletal muscle contraction. J. Biol. Chem. 246:4866-4871.
20. Chomczynski, P., and N. Sacchi. 1987. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162:156-169.
21. Jaenicke, T., K.W. Diederich, W. Haas, J. Schleich, P. Lichter, M. Pfordt, A. Bach, and H.P. Vosberg. 1990. The complete sequence of the human β-myosin heavy chain gene and a comparative analysis of its product. Genomics. 8:194-206.
22. Liew, C.C., M.J. Sole, K. Yamauchi-Takihara, B. Kellam, D.H. Anderson, L. Lin, and J.C. Liew. 1990. Complete sequence and organization of the human cardiac β-myosin heavy chain gene. Nucleic Acids Res. 18:3647-3651.
23. Kelley, C.A., M. Takahashi, J.H. Yu, and R.S. Adelstein. 1993. An insert of seven amino acids confers functional differences between smooth muscle myosins from the intestines and vasculature. J. Biol. Chem. 268:12848-12854.
24. Kurabayashi, M., I. Komuro, H. Tsuchimochi, F. Takaku, and Y. Yazaki. 1988. Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones. J. Biol. Chem. 263:13930-13936.
25. Libera, I.D., E. Hoffmann, M. Eloroff, and G. Jackowski. 1989. Isolation and nucleotide sequence of the cDNA encoding human ventricular myosin light chain 2. Nucleic Acids Res. 17:2360.
26. O'Reilly, D.R., L.K. Miller, and V.A. Luckow. 1992. Baculovirus expression vectors: A Laboratory Manual. W.H. Freeman and Co., New York. 347 pp.
27. Sata, M., M. Matsuura, and M. Ikebe. 1996. Characterization of the motor and enzymatic properties of smooth muscle long Sl and short HMM: role of the two headed structure on the activity and regulation of myosin motor. Biochemistry. 35:11113-11118.
28. Higashihara, M., L.L. Young-Frada, R. Craig, and M. Ikebe. 1989. Inhibition of conformational change in smooth muscle myosin by a monoclonal antibody against the 17-kDa light chain. J. Biol. Chem. 264:5218-5225.
29. Persechini, A., K.E. Kamm, and J.T. Stull. 1986. Different phosphorylated forms of myosin in contracting trachial smooth muscle. J. Biol. Chem. 261: 6293-6299.
30. Ikebe, M., and D.J. Hartshorne. 1985. Proteolysis of smooth muscle myosin by Staphylococcus aureus protease: preparation of heavy meromyosin and subfragment 1 with intact 20,000 dalton light chains. Biochemistry. 24:2380-2387.
31. Tsuchimochi, H., M. Sugi, M. Kuro-o, S. Ueda, F. Takaku, S. Furuta, T. Shirai, and Y. Yazaki. 1984. Isozymic changes in myosin of human atrial myocardium induced by overload: immunohistochemical study using monoclonal antibodies. J. Clin. Invest. 74:662-665.
32. Margossian, S.S. 1985. Reversible dissociation of dog cardiac myosin regulatory light chain 2 and its influence on ATP hydrolysis. J. Biol. Chem. 260: 13747-13754.
33. Stein, L.A., and M.P. White. 1987. Biochemical kinetics of porcine cardiac subfragment-1. Circ. Res. 60:39-49.
34. 547 in chicken gizzard heavy meromyosin. Proc. Natl. Sci. USA. 92:11965-11969.
35. Rayment, I., W.R. Rypniewski, K. Schmidt-Base, R. Smith, D.R. Tomchick, M.M. Benning, D.A. Winkelmann, G. Wesenberg, and H.M. Holden. 1993. Three-dimensional structure of myosin subfragment 1: a molecular motor. Science (Wash. DC). 261:50-58.
36. Rayment, I., H.M. Holden, M. Whittacker, C.B. Yohn, M. Lorenz, K.C. Holmes, and R.A. Milligand. 1993. Structure of the actin-myosin complex and its implications for muscle contraction. Science (Wash. DC). 261:58-65.
37. Rayment, I., H.M. Holden, J.R. Sellers, L. Fananapazir, and N.D. Epstein. 1995. Structural interpretation of the mutations in the β-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc. Natl. Acad. Sci. USA. 92:3864-3868.
38. 4 . Biochemistry. 34:8960-8972.
39. 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 Å resolution. Biochemistry. 35:5404-5417.
40. Eisenberg, E., and T.L. Hill. 1985. Muscle contraction and free energy transduction in biological systems. Science (Wash. DC). 227:999-1006.
41. Geisterfer-Lowrance, A.A.T., M. Christe, D.A. Conner, J.S. Ingwall, F.J. Schoen, C.E. Seidman, and J.G. Seidman. 1996. A mouse model of familial hypertrophic cardiomyopathy. Science (Wash. DC). 272:731-734.
42. Lutz, R.A., C. Bull, and D. Rodbard. 1986. Computer analysis of enzyme-substrate-inhibitor kinetic data with automatic model selection using IBM-PC compatible microcomputers. Enzyme. 36:197-206.