Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice

Journal of Clinical Investigation

Volumn 104, Issue 9, 1999, Pages 1235-1244

  McConnell, Bradley K ^a   Jones, Karen A ^a   Fatkin, Diane ^b   Arroyo, Luis H ^b   Lee, Richard T ^b   Aristizabal, Orlando ^c   Turnbull, Daniel H ^c   Georgakopoulos, Dimitrios ^d   Kass, David ^d   Bond, Meredith ^e   Niimura, Hideshi ^a   Schoen, Frederick J ^b   Conner, David ^a   Fischman, Donald H ^f   Seidman, Christine E ^b   Seidman, Jonathan G ^a,g  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d DEPARTMENT OF PATHOLOGY   (United States)

^e LERNER RESEARCH INSTITUTE   (United States)

^f WEILL CORNELL MEDICAL COLLEGE   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN; PROTEIN C;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FEMALE; GENE MUTATION; HEART DEVELOPMENT; HEART DILATATION; HEART FUNCTION; HEART MUSCLE; HEART VENTRICLE HYPERTROPHY; HOMOZYGOSITY; MALE; MOUSE; MUSCLE FIBRIL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SARCOMERE;

EID: 0032741970     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI7377     Document Type: Article

References (36)

1. Chien, K.R., Grace, A.A., and Hunter, J.J. 1999. Molecular and cellular biology of cardiac hypertrophy and failure. In Molecular basis of cardiovascular disease. K.R. Chien, editor. W.B. Saunders Co. Philadelphia, PA. 251-264.
2. Rodkey, S.M., Ratliff, N.B., and Young, J.B. 1998. Cardiomyopathy and myocardial failure. In Comprehensive cardiovascular medicine. E.J. Topal, editor. Lippincott-Raven Publishers. Philadelphia, PA. 2589-2620.
3. Watkins, H., et al. 1995. Mutations in the cardiac myosin binding protein C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat. Genet. 11:434-437.
4. Bonne, G., et al. 1995. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat. Genet. 11:438-440.
5. Niimura, H., et al. 1998. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N. Engl. J. Med. 338:1248-1257.
6. Bonne, G., Carrier, L., Richard, P., Hainque, B., and Schwartz, K. 1998. Familial hypertrophic cardiomyopathy: from mutations of functional defects. Circ. Res. 83:580-593.
7. Carrier, L., et al. 1997. Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Circ. Res. 80:427-434.
8. Seidman, C.E., and Seidman, J.G. 1997. Gene defects that cause inherited cardiomyopathy. In Molecular basis of heart disease. K.R. Chien, J.L. Breslow, J.M. Leiden, R.D. Rosenberg, and C.E. Seidman, editors. W.B. Saunders. Philadelphia, PA. pp. 251-263.
9. Seidman, C.E., and Seidman, J.G. 1998. Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic Res. Cardiol. 93(Suppl.):13-16.
10. Gruen, M., and Gautel, M. 1999. Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin binding protein-C. J. Mol. Biol. 286:933-949.
11. Dennis, J., Shimizu, E.T., Reinach, F.C., and Fischman, D.A. 1984. Localization of C-protein isoforms in chicken skeletal muscle: ultrastructural detection using monoclonal antibodies. J. Cell Biol. 98:1514-1522.
12. Bennett, P., Craig, R., Starr, R., and Offer, G. 1986. The ultrastructural location of C-protein, X-protein and H-protein in rabbit muscle. J. Muscle Res. Cell. Motil. 7:550-567.
13. Seiler, S.H., Fischman, D.A., and Leinwand, L.A. 1995. Modulation of myosin filament organization by C-protein family members. Mol. Biol. Cell. 7:113-127.
14. Gautel, M., Suffardi, O., Freiburg, A., and Labeit, S. 1995. Phosphorylation switches specific for the cardiac isoform of myosin binding protein C: a modulator of cardiac contraction? EMBO J. 14:1952-1960.
15. Schlender, K., and Bean, L.J. 1991. Phosphorylation of chick cardiac C-protein by calcium/calmodulin-dependent protein kinase II. J. Biol. Chem. 266:2811-2817.
16. Hartzell, H.C. 1985. Effects of phosphorylated and unphosphorylated C-protein on cardiac actomyosin ATPase. J. Mol. Biol. 186:185-195.
17. 2+ activation. J. Gen. Physiol. 97:1141-1163.
18. Rottbauer, W., et al. 1997. Novel splice donor site mutations in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy: characterization of cardiac transcript and protein. J. Clin. Invest. 100:475-482.
19. Hendrickson, B.A., et al. 1995. Altered hepatic transport of immunoglobulin A in mice lacking the J chain. J. Exp. Med. 182:1905-1911.
20. Ho, C., et al. 1995. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat. Genet. 11:389-394.
21. Lakso, M., et al. 1996. Efficient in vivo manipulation of mouse genomic sequences at the zygote stage. Proc. Natl. Acad. Sci. USA. 93:5860-5865.
22. Ogawa, T., et al. 1996. Evidence for load-dependent and load-independent determinants of cardiac natriuretic peptide production. Circulation. 93:2059-2067.
23. Jones, W.K., et al. 1996. Ablation of the murine α myosin heavy chain leads to dosage effects and functional deficits in the heart. J. Clin. Invest. 98:1906-1917.
24. McConnell, B.K., Moravec, C.S., Morano, I., and Bond, M. 1997. Troponin I phosphorylation in spontaneously hypertensive rat hearts: effect of α-adrenergic stimulation. Am. J. Physiol. 273:H1440-H1451.
25. Fatkin, D., et al. 1999. Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutant in the α-cardiac myosin heavy chain gene. J. Clin. Invest. 103:147-153.
26. McConnell B.K., Moravec, C.S., and Bond, M. 1998. Troponin I phosphorylation and myofilament calcium sensitivity during decompensated cardiac hypertrophy. Am. J. Physiol. 274:H385-H396.
27. Einheber, S., and Fischman, D.A. 1990. Isolation and characterization of a cDNA clone encoding avian skeletal muscle C-protein: an intracellular member of the immunoglobulin superfamily. Proc. Natl. Acad. Sci. USA. 87:2157-2161.
28. Geisterfer-Lowrance, et al. 1996. A mouse model of familial hypertrophic cardiomyopathy. Science. 272:731-734.
29. Di Francesco, A., et al., 1998. Changes in Mg content and subcellular distribution during retinoic acid induced differentiation of HL60 cells. Arch. Biochem. Biophys. 360:149-157.
30. Aristizabal, O., Christopher, D.A., Foster, F.S., and Turnbull, D.H. 1998. 40-MHz echocardiographic scanner for cardiovascular assessment of mouse embryos. Ultrasound Med. Biol. 24:1407-1417.
31. Georgakopoulos, D., et al. 1999. Dissecting the pathogenesis of familial hypertrophic cardiomyopathy: primary and secondary effects of an α-cardiac myosin heavy chain missense mutation. Nat. Med. 5:327-330.
32. Vikstrom, K.L., Bohlmeyer, T., Factor, S.M., and Leinwand, L.A. 1998. Hypertrophy, pathology, and molecular markers of cardiac pathogenesis. Circ. Res. 82:773-778.
33. Kubota, T., et al. 1997. Dilated cardiomyopathy in transgenic mice with cardiac-specific overexpression of tumor necrosis factor-alpha. Circ. Res. 81:627-635.
34. Schiaffino, S., and Reggiani, C. 1996. Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev. 76:371-423.
35. Sussman, M.A., et al. 1998. Myofibril degeneration caused by tropomodulin overexpression leads to dilated cardiomyopathy in juvenile mice. J. Clin. Invest. 101:51-61.
36. Yang, Q., et al. 1998. A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy. J. Clin. Invest. 102:1292-1300.