The R403Q Myosin Mutation Implicated in Familial Hypertrophic Cardiomyopathy Causes Disorder at the Actomyosin Interface

DOI: 10.4016/10633.03
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  1. Bonne G, Carrier L, Richard P, Hainque B, Schwartz K (1998) Familial hypertrophic cardiomyopathy: from mutations to functional defects.. Circ Res 83: 580-593.
  2. Seidman JG, Seidman C (2001) The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.. Cell 104: 557-567.
  3. Ferrans VJ, Morrow AG, Roberts WC (1972) Myocardial ultrastructure in idiopathic hypertrophic subaortic stenosis. A study of operatively excised left ventricular outflow tract muscle in 14 patients.. Circulation 45: 769-792.
  4. Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W (1990) A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.. Cell 62: 999-1006.
  5. Tardiff JC (2005) Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes.. Heart Fail Rev 10: 237-248.
  6. Volkmann N, Ouyang G, Trybus KM, DeRosier DJ, Lowey S (2003) Myosin isoforms show unique conformations in the actin-bound state.. Proc Natl Acad Sci U S A 100: 3227-3232.
  7. Volkmann N, Liu H, Hazelwood L, Krementsova EB, Lowey S (2005) The structural basis of myosin V processive movement as revealed by electron cryomicroscopy.. Mol Cell 19: 595-605.
  8. Volkmann N, Hanein D, Ouyang G, Trybus KM, DeRosier DJ (2000) Evidence for cleft closure in actomyosin upon ADP release.. Nat Struct Biol 7: 1147-1155.
  9. Cuda G, Fananapazir L, Epstein ND, Sellers JR (1997) The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.. J Muscle Res Cell Motil 18: 275-283.
  10. Fujita H, Sugiura S, Momomura S, Omata M, Sugi H (1997) Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication.. J Clin Invest 99: 1010-1015.
  11. Miller G, Maycock J, White E, Peckham M, Calaghan S (2003) Heterologous expression of wild-type and mutant beta-cardiac myosin changes the contractile kinetics of cultured mouse myotubes.. J Physiol 548: 167-174.
  12. Palmiter KA, Tyska MJ, Haeberle JR, Alpert NR, Fananapazir L (2000) R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level.. J Muscle Res Cell Motil 21: 609-620.
  13. Sweeney HL, Straceski AJ, Leinwand LA, Tikunov BA, Faust L (1994) Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction.. J Biol Chem 269: 1603-1605.
  14. Tyska MJ, Hayes E, Giewat M, Seidman CE, Seidman JG (2000) Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy.. Circ Res 86: 737-744.
  15. Yamashita H, Tyska MJ, Warshaw DM, Lowey S, Trybus KM (2000) Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy.. J Biol Chem 275: 28045-28052.
  16. Geisterfer-Lowrance AA, Christe M, Conner DA, Ingwall JS, Schoen FJ (1996) A mouse model of familial hypertrophic cardiomyopathy.. Science 272: 731-734.
  17. Maass A, Leinwand LA (2000) Animal models of hypertrophic cardiomyopathy.. Curr Opin Cardiol 15: 189-196.
  18. Marian AJ, Wu Y, Lim DS, McCluggage M, Youker K (1999) A transgenic rabbit model for human hypertrophic cardiomyopathy.. J Clin Invest 104: 1683-1692.
  19. Sata M, Ikebe M (1996) Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome.. J Clin Invest 98: 2866-2873.
  20. Margossian SS (1985) Reversible dissociation of dog cardiac myosin regulatory light chain 2 and its influence on ATP hydrolysis.. J Biol Chem 260: 13747-13754.
  21. VanBuren P, Harris DE, Alpert NR, Warshaw DM (1995) Cardiac V1 and V3 myosins differ in their hydrolytic and mechanical activities in vitro.. Circ Res 77: 439-444.
  22. Iorga B, Adamek N, Geeves MA (2007) The slow skeletal muscle isoform of myosin shows kinetic features common to smooth and non-muscle myosins.. J Biol Chem 282: 3559-3570.
  23. Dominguez R, Freyzon Y, Trybus KM, Cohen C (1998) Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state.. Cell 94: 559-571.
  24. Rayment I, Rypniewski WR, Schmidt-Base K, Smith R, Tomchick DR (1993) Three-dimensional structure of myosin subfragment-1: a molecular motor.. Science 261: 50-58.
  25. Coureux PD, Sweeney HL, Houdusse A (2004) Three myosin V structures delineate essential features of chemo-mechanical transduction.. Embo J 23: 4527-4537.
  26. Coureux PD, Wells AL, Menetrey J, Yengo CM, Morris CA (2003) A structural state of the myosin V motor without bound nucleotide.. Nature 425: 419-423.
  27. Kollmar M, Durrwang U, Kliche W, Manstein DJ, Kull FJ (2002) Crystal structure of the motor domain of a class-I myosin.. Embo J 21: 2517-2525.
  28. Egelman EH (2000) A robust algorithm for the reconstruction of helical filaments using single-particle methods.. Ultramicroscopy 85: 225-234.
  29. Rost LE, Hanein D, DeRosier DJ (1998) Reconstruction of symmetry deviations: a procedure to analyze partially decorated F-actin and other incomplete structures.. Ultramicroscopy 72: 187-197.
  30. Holmes KC, Angert I, Kull FJ, Jahn W, Schroder RR (2003) Electron cryo-microscopy shows how strong binding of myosin to actin releases nucleotide.. Nature 425: 423-427.
  31. Rayment I, Holden HM, Whittaker M, Yohn CB, Lorenz M (1993) Structure of the actin-myosin complex and its implications for muscle contraction.. Science 261: 58-65.
  32. Whittaker M, Wilson-Kubalek EM, Smith JE, Faust L, Milligan RA (1995) A 35-A movement of smooth muscle myosin on ADP release.. Nature 378: 748-751.
  33. Volkmann N (2002) A novel three-dimensional variant of the watershed transform for segmentation of electron density maps.. J Struct Biol 138: 123-129.
  34. Wells AL, Lin AW, Chen LQ, Safer D, Cain SM (1999) Myosin VI is an actin-based motor that moves backwards.. Nature 401: 505-508.
  35. Jontes JD, Ostap EM, Pollard TD, Milligan RA (1998) Three-dimensional structure of Acanthamoeba castellanii myosin-IB (MIB) determined by cryoelectron microscopy of decorated actin filaments.. J Cell Biol 141: 155-162.
  36. Wang Q, Moncman CL, Winkelmann DA (2003) Mutations in the motor domain modulate myosin activity and myofibril organization.. J Cell Sci 116: 4227-4238.
  37. Kim SJ, Iizuka K, Kelly RA, Geng YJ, Bishop SP (1999) An alpha-cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes.. Am J Physiol 276: H1780-1787.
  38. Pardee JD, Spudich JA (1982) Purification of muscle actin.. Methods Enzymol 85 Pt B: 164-181.
  39. Trybus KM (1994) Regulation of expressed truncated smooth muscle myosins. Role of the essential light chain and tail length.. J Biol Chem 269: 20819-20822.
  40. Owen CH, Morgan DG, DeRosier DJ (1996) Image analysis of helical objects: the Brandeis Helical Package.. J Struct Biol 116: 167-175.
  41. DeRosier DJ, Moore PB (1970) Reconstruction of three-dimensional images from electron micrographs of structures with helical symmetry.. J Mol Biol 52: 355-369.
  42. Hanein D, DeRosier D (1999) A new algorithm to align three-dimensional maps of helical structures.. Ultramicroscopy 76: 233-238.
  43. Hanein D, Matsudaira P, DeRosier DJ (1997) Evidence for a conformational change in actin induced by fimbrin (N375) binding.. J Cell Biol 139: 387-396.
  44. Ludtke SJ, Baldwin PR, Chiu W (1999) EMAN: semiautomated software for high-resolution single-particle reconstructions.. J Struct Biol 128: 82-97.
  45. Volkmann N, Hanein D (1999) Quantitative fitting of atomic models into observed densities derived by electron microscopy.. J Struct Biol 125: 176-184.
  46. Trachtenberg S, DeRosier DJ (1987) Three-dimensional structure of the frozen-hydrated flagellar filament. The left-handed filament of Salmonella typhimurium.. J Mol Biol 195: 581-601.
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