Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: A personal history

Circulation Research

Volumn 108, Issue 6, 2011, Pages 743-750

  Seidman, Christine E ^a,b,c   Seidman, J G ^b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

gene mutations; hypertrophic cardiomyopathy; sarcomere

Indexed keywords

ACTIN; ACTININ; ANKYRIN; CONNECTIN; CONTRACTILE PROTEIN; LIM PROTEIN; MEMBRANE PROTEIN; MYOSIN HEAVY CHAIN ALPHA; MYOSIN HEAVY CHAIN BETA; MYOSIN LIGHT CHAIN; MYOZENIN 2; NEXILIN; PHOSPHOLAMBAN; TELETHONIN; TROPONIN C; TROPONIN T; UNCLASSIFIED DRUG; VINICULIN;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 14Q; ECHOCARDIOGRAPHY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC VARIABILITY; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; SARCOMERE;

CARDIOMYOPATHY, HYPERTROPHIC; GENETIC VARIATION; HUMANS; MOLECULAR PROBE TECHNIQUES; MUTATION; MYOCARDIUM; SARCOMERES;

EID: 79953037494     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.110.223834     Document Type: Article

References (96)

1. Teare D. Asymmetrical hypertrophy of the heart in young adults. Br Heart J. 1958;20:1-8.
2. Brock R. Functional obstruction of the left ventricle; acquired aortic subvalvar stenosis. Guys Hosp Rep. 1957;106:221-238.
3. Morrow AG, Braunwald E. Functional aortic stenosis; a malformation characterized by resistance to left ventricular outflow without anatomic obstruction. Circulation. 1959;20:181-189.
4. Goodwin JF, Hollman A, Cleland WP, Teare D. Obstructive cardiomy-opathy simulating aortic stenosis. Br Heart J. 1960;22:403-414.
5. Braunwald E, Ebert PA. Hemogynamic alterations in idiopathic hyper-trophic subaortic stenosis induced by sympathomimetic drugs. Am J Cardiol. 1962;10:489-495.
6. Coats CJ, Hollman A. Hypertrophic cardiomyopathy: lessons from history. Heart. 2008;94:1258-1263.
7. Liouville H. Retrecissement cardiaque sous aortique. Gazette Medicale de Paris. 1869;24:161-163.
8. Hallopeau M. Retrecissement ventriculo-aortique. Gazette Medicale de Paris. 1869;24:683-687.
9. Maron BJ, Gottdiener JS, Goldstein RE, Epstein SE. Hypertrophic car-diomyopathy: the great masquerader. Clinical conference from the Cardiology Branch of the National Heart, Lung, and Blood Institute, Bethesda, Md. Chest. 1978;74:659-670.
10. Goodwin JF. Prospects and predictions for the cardiomyopathies. Circulation. 1974;50:210-219.
11. Darsee JR, Heymsfield SB, Nutter DO. Hypertrophic cardiomyopathy and human leukocyte antigen linkage: differentiation of two forms of hypertrophic cardiomyopathy. N Engl J Med. 1979;300:877-882. (Pubitemid 9190862)
12. Nutter DO, Heymsfield SB, Glenn JF. Retraction. Darsee JR, Heymsfield SB, Nutter DO. Hypertrophic cardiomyopathy and human leukocyte antigen linkage: differentiation of two forms of hypertrophic cardiomy-opathy. N Engl J Med 1979;300:877-882. (Pubitemid 9190862)
13. N Engl J Med. 1983;308:1400.
14. Smith CA. Linkage in blood group genetics. Bibl Haematol. 1965;23: 263-267.
15. Svejgaard A, Platz P, Ryder LP, Nielsen LS, Thomsen M. HL-A and disease associations-a survey. Transplant Rev. 1975;22:3-43.
16. Botstein D, White RL, Skolnick M, Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980;32:314-331. (Pubitemid 11105557)
17. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974;26:588-597.
18. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY,Young AB, Shouldson I, Bonilla E, Martin JB. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983;306:234-238. (Pubitemid 14232350)
19. Donis-Keller H, Green P, Helms C, Cartinhour S, Weiffenbach B, Stephens K, Keith TP, Bowden DW, Smith DR, Lander ES, Botstein D, Akots G, Rediker KS, Gravius T, Brown VA, Rsing MB, Parker C, Powers JA, Watt DE, Kauffman ER, Bricker A, Phipps P, Muller-Kahle H, Fulton TR, Ng S, Schumm JW, Braman JC, Knowlton RG, Barker DF, Crooks SM, Lincoln SE, Daly MJ, Abrahamson J. A genetic linkage map of the human genome. Cell. 1987;51:319-337.
20. Tsui LC, Buchwald M, Barker D, Braman JC, Knowlton R, Schumm JW, Eiberg H, Mohr J, Kennedy D, Plavsic N. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science. 1985;230: 1054-1057. (Pubitemid 16192696)
21. Buchwald M, Zsiga M, Markiewicz D, Plavsic N, Kennedy D, Zengerling S, Willard HF, Tsipouras P, Schmiegelow K, Schwartz M, Eiberg H, Mohr J, Barker D, Donis-Keller H, Tsue LC. Linkage of cystic fibrosis to the pro alpha 2(I) collagen gene, COL1A2, on chromosome 7. Cytogenet Cell Genet. 1986;41:234-239.
22. Braunwald E, Lambrew CT, Rockoff SD, Ross J Jr, Morrow AG. Idio-pathic hypertrophic subaortic stenosis. I. A description of the disease based upon an analysis of 64 patients. Circulation. 1964;30(suppl IV): 3-119.
23. Wigle ED, Auger P, Marquis Y. Muscular subaortic stenosis. The direct relation between the intraventricular pressure difference and the left ventricular ejection time. Circulation. 1967;36:36-44.
24. Popp RL, Harrison DC. Ultrasound in the diagnosis and evaluation of therapy of idiopathic hypertrophic subaortic stenosis. Circulation. 1969; 40:905-914.
25. Shah PM, Gramiak R, Adelman AG, Wigle ED. Role of echocardiogra-phy in diagnostic and hemodynamic assessment of hypertrophic subaortic stenosis. Circulation. 1971;44:891-898.
26. Henry WL, Clark CE, Epstein SE. Asymmetric septal hypertrophy. Echo-cardiographic identification of the pathognomonic anatomic abnormality of IHSS. Circulation. 1973;47:225-233.
27. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation. 1995;92:785-789.
28. McKenna WJ, Goodwin JF. The natural history of hypertrophic cardio-myopathy. Curr Probl Cardiol. 1981;6:1-26.
29. McKenna W, Deanfield J, Faruqui A, England D, Oakley C, Goodwin J. Prognosis in hypertrophic cardiomyopathy: role of age and clinical, elec-trocardiographic and hemodynamic features. Am J Cardiol. 1981;47: 532-538. (Pubitemid 11137648)
30. Pare JA, Fraser RG, Pirozynski WJ, Shanks JA, Stubington D. Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. Am J Med. 1961;31:37-62.
31. Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989;321:1372-1378. (Pubitemid 19284194)
32. Saez LJ, Gianola KM, McNally EM, Feghali R, Eddy R, Shows TB, Leinwand LA. Human cardiac myosin heavy chain genes and their linkage in the genome. Nucleic Acids Res. 1987;15:5443-5459.
33. Liew CC, Sole MJ, Yamauchi-Takihara K, Kellam B, Anderson DH, Lin LP, Liew JC. Complete sequence and organization of the human cardiac beta-myosin heavy chain gene. Nucleic Acids Res. 1990;18:3647-3651. (Pubitemid 20191829)
34. Jaenicke T, Diederich KW, Haas W, Schleich J, Lichter P, Pfordt M, Bach A, Vosberg HP. The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics. 1990;8:194-206. (Pubitemid 20335608)
35. Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990;62:999-1006.
36. Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE. A molecular basis for familial hypertrophic cardiomyopa-thy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell. 1990; 62:991-998.
37. Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992;326:1108-1114.
38. Marian AJ, Yu QT, Mares A Jr, Hill R, Roberts R, Perryman MB. Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy. J Clin Invest. 1992;90: 2156-2165. (Pubitemid 23010029)
39. Dufour C, Dausse E, Fetler L, Dubourg O, Bouhour JB, Vosberg HP, Guicheney P, Komajda M, Schwartz K. Identification of a mutation near a functional site of the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. J Mol Cell Cardiol. 1994;26: 1241-1247. (Pubitemid 24298499)
40. Solomon SD, Jarcho JA, McKenna W, Geisterfer-Lowrance A, Germain R, Salerni R, Seidman JG, Seidman CE. Familial hypertrophic cardio-myopathy is a genetically heterogeneous disease. J Clin Invest. 1990;86: 993-999. (Pubitemid 20327393)
41. Schwartz K, Beckmann J, Dufour C, Faure L, Fougerousse F, Carrier L, Hengstenberg C, Cohen D, Vosberg HP, Sacrez A. Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardio-myopathy of several French families. Circ Res. 1992;71:3-8.
42. Watkins H, MacRae C, Thierfelder L, Chou YH, Frenneaux M, McKenna W, Seidman JG, Seidman CE. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet. 1993;3:333-337. (Pubitemid 23112959)
43. Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994;77:701-712.
44. Schleef M, Werner K, Satzger U, Kaupmann K, Jockusch H. Chromosomal localization and genomic cloning of the mouse alpha-tropomyosin gene Tpm-1. Genomics. 1993;17:519-521. (Pubitemid 23231319)
45. Leger JJ, Berson G, Delcaryre C, Klotz C, Schwartz K, Leger J, Stephens M, Swynghedauw B. Heart contractile proteins. Biochimie. 1975;57: 1249-1273.
46. Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D, Fetler L, Vignal A, Weissenbach J, Hillaire D, Feingold J, Bouhour J-B, Hagege A, Desnos M, Isnard R, Dubourg O, Komajda M, Schwartz K. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet. 1993;4:311-313. (Pubitemid 23205183)
47. Gautel M, Zuffardi O, Freiburg A, Labeit S. Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? EMBO J. 1995;14:1952-1960.
48. Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg HP, Fiszman M, Komajda M, Schwartz K. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:438-440.
49. Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hyper-trophic cardiomyopathy. Nat Genet. 1995;11:434-437.
50. Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND. 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: 63-69. (Pubitemid 26139295)
51. Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyop-athy. Nat Genet. 1997;16:379-382. (Pubitemid 27323305)
52. Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2000;32: 1687-1694.
53. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE. Sarcomere protein gene mutations in hypertrophic cardio-myopathy of the elderly. Circulation. 2002;105:446-451. (Pubitemid 34141700)
54. Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation. 2005;112:54-59. (Pubitemid 40962569)
55. Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun. 1999;262:411-417. (Pubitemid 29429882)
56. Hoffmann B, Schmidt-Traub H, Perrot A, Osterziel KJ, Gessner R. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum Mutat. 2001;17:524.
57. Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol. 55:1127-1135.
58. Arimura T, Bos JM, Sato A, Kubo T, Okamoto H, Nishi H, Harada H, Koga Y, Moulik M, Doi YL, Towbin JA, Ackerman MJ, Kimura A. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hyper-trophic cardiomyopathy. J Am Coll Cardiol. 2009;54:334-342.
59. Osio A, Tan L, Chen SN, Lombardi R, Nagueh SF, Shete S, Roberts R, Willerson JT, Marian AJ. Myozenin 2 is a novel gene for human hyper-trophic cardiomyopathy. Circ Res. 2007;100:766-768. (Pubitemid 46555681)
60. Knoll R, Kostin S, Klede S, Savvatis K, Klinge L, Stehle I, Gunkel S, Kotter S, Babicz K, Sohns M, Miocic S, Didie M, Knoll G, Zimmermann WH, Thelen P, Bickeboller H, Maier LS, Schaper W, Schaper J, Kraft T, Tschope C, Linke WA, Chien KR. A common MLP (muscle LIM protein) variant is associated with cardiomyopathy. Circ Res. 2010;106:695-704.
61. Wang H, Li Z, Wang J, Sun K, Cui Q, Song L, Zou Y, Wang X, Liu X, Hui R, Fan Y. Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2010;87:687-693.
62. Bos JM, Poley RN, Ny M, Tester DJ, Xu X, Vatta M, Towbin JA, Gersh BJ, Ommen SR, Ackerman MJ. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab. 2006;88:78-85.
63. Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knoll R, Hoshijima M, Chien KR, Kimura A. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol. 2004; 44:2192-2201. (Pubitemid 39576040)
64. Landstrom AP, Adekola BA, Bos JM, Ommen SR, Ackerman MJ. PLN-encoded phospholamban mutation in a large cohort of hypertrophic car-diomyopathy cases: summary of the literature and implications for genetic testing. Am Heart J. 2010;161:165-171.
65. Vasile VC, Ommen SR, Edwards WD, Ackerman MJ. A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2006;345:998-1003. (Pubitemid 43776495)
66. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloglu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA. 2009;106: 19096-19101.
67. Ho CY. Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. Circulation. 2010;122:2430-2440.
68. Watkins H, Thierfelder L, Anan R, Jarcho J, Matsumori A, McKenna W, Seidman JG, Seidman CE. Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet. 1993;53:1180-1185. (Pubitemid 23346216)
69. Coats CJ, Elliott PM. Current management of hypertrophic cardiomyop-athy. Curr Treat Options Cardiovasc Med. 2008;10:496-504.
70. Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J. 2003;24:1848-1853. (Pubitemid 37280251)
71. Jaaskelainen P, Miettinen R, Karkkainen P, Toivonen L, Laakso M, Kuusisto J. Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes. Ann Med. 2004;36:23-32. (Pubitemid 38230696)
72. Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA. The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. Am J Hum Genet. 1999;65:1308-1320. (Pubitemid 30460381)
73. Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F. A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. J Cardiovasc Med (Hagerstown). 2006;7:601-607. (Pubitemid 44350495)
74. Dhandapany PS, Sadayappan S, Xue Y, Powell GT, Rani DS, Nallari P, Rai TS, Khullar M, Soares P, Bahl A, Tharkan JM, Vaideeswar P, Rathinavel A, Narasimhan C, Ayapati DR, Ayub Q, Mehdi SQ, Oppen-heimer S, Richards MB, Price AL, Patterson N, Reich D, Singh L, Tyler-Smith C, Thangaraj K. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nat Genet. 2009;41:187-191.
75. Kubo T, Kitaoka H, Okawa M, Matsumura Y, Hitomi N, Yamasaki N, Furuno T, Takata J, Nishinaga M, Kimura A, Doi YL. Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese. J Am Coll Cardiol. 2005;46:1737-1743. (Pubitemid 41531632)
76. Saltzman AJ, Mancini-DiNardo D, Li C, Chung WK, Ho CY, Hurst S, Wynn J, Care M, Hamilton RM, Seidman GW, Gorham J, McDonough B, Sparks E, Seidman JG, Seidman CE, Rehm HL. Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. Circ Res. 2010;106:1549-1552.
77. Wordsworth S, Leal J, Blair E, Legood R, Thomson K, Seller A, Taylor J, Watkins H. DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model. Eur Heart J. 2010;31:926-935.
78. van Dijk SJ, Dooijes D, dos Remedios C, Michels M, Lamers JM, Winegrad S, Schlossarek S, Carrier L, ten Cate FJ, Stienen GJ, van der Velden J. Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and car-diomyocyte dysfunction. Circulation. 2009;119:1473-1483.
79. Marston S, Copeland O, Jacques A, Livesey K, Tsang V, McKenna WJ, Jalilzadeh S, Carballo S, Redwood C, Watkins H. Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardio-myopathy through haploinsufficiency. Circ Res. 2009;105:219-222.
80. Nishi H, Kimura A, Harada H, Koga Y, Adachi K, Matsuyama K, Koyanagi T, Yasunaga S, Imaizumi T, Toshima H, Sasazuki T. A myosin missense mutation, not a null allele, causes familial hypertrophic cardio-myopathy. Circulation. 1995;91:2911-2915.
81. Eldin P, Le Cunff M, Diederich KW, Jaenicke T, Cornillon B, Mornet D, Vosberg HP, Leger JJ. Expression of human beta-myosin heavy chain fragments in Escherichia coli; localization of actin interfaces on cardiac myosin. J Muscle Res Cell Motil. 1990;11:378-391. (Pubitemid 20332019)
82. Sweeney HL, Straceski AJ, Leinwand LA, Tikunov BA, Faust L. Heter-ologous expression of a cardiomyopathic myosin that is defective in its actin interaction. J Biol Chem. 1994;269:1603-1605. (Pubitemid 24035346)
83. Eldin P, Le Cunff M, Mornet D, Leger JJ. The cardiac myosin heavy chain Arg-403->Gln mutation that causes hypertrophic cardiomyopathy does not affect the actin- or ATP-binding capacities of two size-limited recombinant myosin heavy chain fragments. Biochem J. 1995;306(Pt 2): 345-351.
84. Cuda G, Fananapazir L, Zhu WS, Sellers JR, Epstein ND. Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. J Clin Invest. 1993;91:2861-2865. (Pubitemid 23182546)
85. Tardiff JC. Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes. Heart Fail Rev. 2005;10:237-248. (Pubitemid 43115833)
86. Shephard R, Semsarian C. Role of animal models in HCM research. J Cardiovasc Transl Res. 2009;2:471-482.
87. Geisterfer-Lowrance AA, Christe M, Conner DA, Ingwall JS, Schoen FJ, Seidman CE, Seidman JG. A mouse model of familial hypertrophic cardiomyopathy. Science. 1996;272:731-734. (Pubitemid 26000280)
88. Teekakirikul P, Eminaga S, Toka O, Alcalai R, Wang L, Wakimoto H, Nayor M, Konno T, Gorham JM, Wolf CM, Kim JB, Schmitt JP, Molkentin JD, Norris RA, Tager AM, Hoffman SR, Markwald RR, Seidman CE, Seidman JG. Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-beta. J Clin Invest. 2010;120:3520-3529.
89. Debold EP, Schmitt JP, Patlak JB, Beck SE, Moore JR, Seidman JG, Seidman C, Warshaw DM. Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. Am J Physiol Heart Circ Physiol. 2007;293:H284-H291. (Pubitemid 47105083)
90. Sivaramakrishnan S, Ashley E, Leinwand L, Spudich JA. Insights into human beta-cardiac myosin function from single molecule and single cell studies. J Cardiovasc Transl Res. 2009;2:426-440.
91. Tyska MJ, Hayes E, Giewat M, Seidman CE, Seidman JG, Warshaw DM. Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ Res. 2000; 86:737-744. (Pubitemid 30217821)
92. Tardiff JC, Hewett TE, Palmer BM, Olsson C, Factor SM, Moore RL, Robbins J, Leinwand LA. Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. J Clin Invest. 1999;104:469-481. (Pubitemid 29534331)
93. Fatkin D, McConnell BK, Mudd JO, Semsarian C, Moskowitz IG, Schoen FJ, Giewat M, Seidman CE, Seidman JG. An abnormal Ca(2 + ) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin Invest. 2000;106:1351-1359.
94. Konno T, Chen D, Wang L, Wakimoto H, Teekakirikul P, Nayor M, Kawana M, Eminaga S, Gorham JM, Pandya K, Smithies O, Naya FJ, Olson EN, Seidman JG, Seidman CE. Heterogeneous myocyte enhancer factor-2 (Mef2) activation in myocytes predicts focal scarring in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA. 2010;107:18097-18102.
95. Kim JB, Porreca GJ, Song L, Greenway SC, Gorham JM, Church GM, Seidman CE, Seidman JG. Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy. Science. 2007;316: 1481-1484. (Pubitemid 46906615)
96. Force T, Bonow RO, Houser SR, Solaro RJ, Hershberger RE, Adhikari B, Anderson ME, Boineau R, Byrne BJ, Cappola TP, Kalluri R, LeWinter MM, Maron MS, Molkentin JD, Ommen SR, Regnier M, Tang WH, Tian R, Konstam MA, Maron BJ, Seidman CE. Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute. Circulation. 2010;122:1130-1133.