Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene

Journal of Medical Genetics

Volumn 35, Issue 3, 1998, Pages 205-210

  Yu, B ^a   French, J A ^a   Carrier, L ^b   Jeremy, R W ^a   McTaggart, D R ^c   Nicholson, M R ^d   Hambly, B ^e   Semsarian, C ^a   Richmond, D R ^a   Schwartz, K ^b   Trent, R J ^a  

^a ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c LAUNCESTON GENERAL HOSPITAL   (Australia)

^d ROYAL HOBART HOSPITAL   (Australia)

^e UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Familial hypertrophic cardiomyopathy; MYBPC3 gene; Protein

Indexed keywords

DNA; MUTANT PROTEIN; MYOSIN; MYOSIN BINDING PROTEIN C; PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRIORITY JOURNAL;

EID: 17344372574     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.3.205     Document Type: Article

References (25)

1. Geisterfer-Lowrance AAT, Kass S, Tanigawa G, et al. A molecular basis for familial hypertrophic cardiomyopathy: a β cardiac myosin heavy chain gene missense mutation. Cell 1990;62:999-1006.
2. Thierfelder L, Watkins H, MacRae C, et al. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic eardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-12.
3. Schwartz K, Carrier L, Guicheney P, Komajda M. Molecular basis of familial cardiomyopathies. Circulation 1995;91: 532-40.
4. Carrier L, Hengstenberg C, Beckmann JS, et al. Mapping of a novel gene for familial hypertrophic eardiomyopathy to chromosome 11. Nat Genet 1993;4:311-13.
5. Bonne G, Carrier L, Bercovici J, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995;11:438-40.
6. Watkins H, Conner D, Thierfelder L, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995;11:434-7.
7. Carrier L, Bonne G, Bahrend E, et al. Organization and sequence of human cardiac myosin binding protein C gene (MVBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Circ Res 1997;80:427-34.
8. MacRae CA, Ghaisas N, Kass S, et al. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest 1995;96: 1216-20.
9. Poetter K, Jiang H, Hassanzadeh S, et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 1996;13:63-9.
10. Kimura A, Harada H, Park JE, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997:16:379-82.
11. Geisterfer-Lowrance AA, Christe M, Conner DA, et al. A mouse model of familial hypertrophic cardiomyopathy. Science 1996;272:731-4.
12. Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995;332: 1058-64.
13. Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nat Genet 1994;7:246-339.
14. Rust S, Funke H, Assmann G. Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection. Nucleic Acids Res 1993;21:3623-9.
15. Harpaz Y, Chothia C. Many of the immunoglobulin superfamily domains in cell adhesion molecules and surface receptors belong to a new structural set which is close to that containing variable domains. J Mol Biol 1994;238:528-39.
16. Hutchinson EG, Thornton JM. A revised set of potentials for β-turn formation in proteins. Protein Sci 1994:3:2207-16.
17. Gautel M, Zuffardi O, Freiburg A, Labeit S. Phosphory'atipn switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? EMBO J 1995;14:1952-60.
18. Freiburg A, Gautel M. A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy. Eur J Biochem 1996;235:317-23.
19. Okagaki T, Weber FE, Fischman DA, Vaughan KT, Mikawa T, Reinach FC. The major myosin-binding domain of skeletal muscle MyBP-C (C protein) resides in the COOH-terminal immunoglobulin C2 motif. J Cell Biol 1993;123: 619-26.
20. Gilbert R, Kelly MG, Mikawa T, Fischman DA. The carboxyl terminus of myosin binding protein C (MyBP-C, C-protein) specifies incorporation into the A-band of striated muscle. J Cell Sci 1996;109:101-11.
21. Moos C, Feng IN. Effect of C-protein on actomyosin ATPase. Biochsm Biophys Acta 1980;632:141-9.
22. Yamamoto K, Moos C. The C-proteins of rabbit red, white, and cardiac muscles. J Biol Chem 1983;258:8395-401.
23. Koshida S, Kurasawa M, Yasuda M, Sato N, Obinata T. Assembly of cardiac C-protein during myofibnllogenesis in myogenic cells in culture. Cell Struct Funct 1995;20:253-61.
24. Rhee D, Sanger JM, Sanger JW. The premyofibril: evidence for its role in myofibrillogenesis. Cell Motil Cytoskel 1994;28:l-24.
25. Seiler SH, Fischman DA, Leinwand LA. Modulation of myosin filament organization by C-protein family members. Mol Biol Cell 1996;7:113-27.