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Gene Review

MYH1  -  myosin, heavy chain 1, skeletal muscle, adult

Homo sapiens

Synonyms: HEL71, MGC133384, MYHSA1, MYHa, MyHC-2X/D, ...
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Disease relevance of MYH1

  • We propose the term myosin storage myopathy for this disease [1].
  • Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy [2].
  • Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-third of all cases of Sheldon-Hall syndrome (SHS), the most common distal arthrogryposis [3].
  • 24 h after adenoviral exposure, MyoD-converted cultures were injected into regenerating muscle of immunodeficient (severe combined immunodeficiency/beige) mice, where they gave rise to beta-galactosidase positive, centrally nucleated fibers expressing human myosin heavy chains [4].
  • Several mutations within the gene coding for the cardiac beta myosin heavy chain (designed MYH7) have been shown to be responsible for Familial Hypertrophic Cardiomyopathy (FHC) in several families, and evidence of genetic heterogeneity has been reported [5].

Psychiatry related information on MYH1

  • The segment of smooth muscle regulatory light chain essential for the phosphorylation dependent activation of actomyosin motor activity and the binding of myosin heavy chain was identified [6].
  • Cardiac myosin binding protein C gene is specifically expressed in heart during murine and human development [7].
  • After exercise, the recovery of phosphocreatine-an index of oxidative metabolic capacity of the muscle-was slower in the beta myosin heavy chain group (mean half time 0.65 (0.08) minutes) than in the troponin T group (0.60 (0.17) minutes) or controls (0.48 (0.14) minutes) [8].
  • In hyperthyroidism, the cross-bridge movement significantly preceded tension development, suggesting that hyperthyroid myosin (V1) has a longer latency period between the shift to the vicinity of the thin filament and force development [9].
  • Cooperative behavior of smooth muscle myosin [10].

High impact information on MYH1

  • Kinetics shows that the binding of myosin to actin is a two-step process which affects ATP and ADP affinity [11].
  • Molecular genetics of myosin [12].
  • Structural and biochemical studies suggest that the position of tropomyosin (Tm) and troponin (Tn) on the thin filament determines the interaction of myosin with the binding sites on actin [13].
  • 3) The initial rate of force development depends mostly on the extent of Ca(2+) activation of the thin filament and myosin kinetic properties but depends little on the initial force level [13].
  • Second, the technology to measure picoNewton forces and nanometer distances has provided direct determinations of the force and step length generated by a single myosin molecule interacting with a single actin filament [14].

Chemical compound and disease context of MYH1


Biological context of MYH1


Anatomical context of MYH1

  • Three major MyHC isoforms are expressed in human skeletal muscle (type I, MYH7, expressed in type 1 fibres; IIa, MYH2, expressed in 2A fibres; IIx, MYH1, expressed in 2B fibres) [23].
  • The conventional myosin motor proteins that drive mammalian skeletal and cardiac muscle contraction include eight sarcomeric myosin heavy chain (MyHC) isoforms [24].
  • Myosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus contain myosin [25].
  • Intermuscular and intramuscular differences in myosin heavy chain composition of the human masticatory muscles [26].
  • Cytoplasmic staining included stress fibers that colocalized with actin, probably as a consequence of the myosin heavy chain component of the fusion protein [27].

Associations of MYH1 with chemical compounds

  • The myosin molecule is composed of two heavy (MyHC) and two light chains (MyLC) that, together with the adenosine triphosphatase (ATPase) activity, determine the functional characteristics of the fibre [20].
  • The authors have identified the arginine 1845 tryptophan mutation found in the Swedish families in two isolated Belgian cases, indicating a critical role for myosin residue arginine 1845 [25].
  • Expression of constitutively active forms of Akt dramatically enhances myotube formation and expression of the muscle-specific proteins MyoD, creatine kinase, myosin heavy chain, and desmin [28].
  • Twenty-four are clustered around four specific locations in the myosin head that are (i) associated with the actin binding interface, (ii) around the nucleotide binding site, (iii) adjacent to the region that connects the two reactive cysteine residues, and (iv) in close proximity to the interface of the heavy chain with the essential light chain [29].
  • In accordance with this negative role, reactivation of JNKs by anisomycin, in UO126-pre-treated cells, also prevents myosin expression [30].
  • Our previous studies showed that UNC-98, a C2H2 Zn finger protein, acts as a linkage between UNC-97, an integrin-associated protein, and MHC A in myosin thick filaments [31].

Physical interactions of MYH1


Co-localisations of MYH1


Regulatory relationships of MYH1


Other interactions of MYH1


Analytical, diagnostic and therapeutic context of MYH1


  1. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Tajsharghi, H., Thornell, L.E., Lindberg, C., Lindvall, B., Henriksson, K.G., Oldfors, A. Ann. Neurol. (2003) [Pubmed]
  2. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. Lamont, P.J., Udd, B., Mastaglia, F.L., de Visser, M., Hedera, P., Voit, T., Bridges, L.R., Fabian, V., Rozemuller, A., Laing, N.G. J. Neurol. Neurosurg. Psychiatr. (2006) [Pubmed]
  3. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Toydemir, R.M., Rutherford, A., Whitby, F.G., Jorde, L.B., Carey, J.C., Bamshad, M.J. Nat. Genet. (2006) [Pubmed]
  4. High efficiency myogenic conversion of human fibroblasts by adenoviral vector-mediated MyoD gene transfer. An alternative strategy for ex vivo gene therapy of primary myopathies. Lattanzi, L., Salvatori, G., Coletta, M., Sonnino, C., Cusella De Angelis, M.G., Gioglio, L., Murry, C.E., Kelly, R., Ferrari, G., Molinaro, M., Crescenzi, M., Mavilio, F., Cossu, G. J. Clin. Invest. (1998) [Pubmed]
  5. Identification of a mutation near a functional site of the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. Dufour, C., Dausse, E., Fetler, L., Dubourg, O., Bouhour, J.B., Vosberg, H.P., Guicheney, P., Komajda, M., Schwartz, K. J. Mol. Cell. Cardiol. (1994) [Pubmed]
  6. Involvement of the C-terminal residues of the 20,000-dalton light chain of myosin on the regulation of smooth muscle actomyosin. Ikebe, M., Reardon, S., Mitani, Y., Kamisoyama, H., Matsuura, M., Ikebe, R. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  7. Cardiac myosin binding protein C gene is specifically expressed in heart during murine and human development. Fougerousse, F., Delezoide, A.L., Fiszman, M.Y., Schwartz, K., Beckmann, J.S., Carrier, L. Circ. Res. (1998) [Pubmed]
  8. Abnormal skeletal muscle bioenergetics in familial hypertrophic cardiomyopathy. Thompson, C.H., Kemp, G.J., Taylor, D.J., Conway, M., Rajagopalan, B., O'Donoghue, A., Styles, P., McKenna, W.J., Radda, G.K. Heart (1997) [Pubmed]
  9. Cross-bridge and calcium behavior in ferret papillary muscle in different thyroid states. Yagi, N., Saeki, Y., Ishikawa, T., Kurihara, S. Jpn. J. Physiol. (2001) [Pubmed]
  10. Cooperative behavior of smooth muscle myosin. Persechini, A., Hartshorne, D.J. Fed. Proc. (1982) [Pubmed]
  11. Structural mechanism of muscle contraction. Geeves, M.A., Holmes, K.C. Annu. Rev. Biochem. (1999) [Pubmed]
  12. Molecular genetics of myosin. Emerson, C.P., Bernstein, S.I. Annu. Rev. Biochem. (1987) [Pubmed]
  13. Regulation of contraction in striated muscle. Gordon, A.M., Homsher, E., Regnier, M. Physiol. Rev. (2000) [Pubmed]
  14. Actomyosin interaction in striated muscle. Cooke, R. Physiol. Rev. (1997) [Pubmed]
  15. Impaired recycling of synaptic vesicles after acute perturbation of the presynaptic actin cytoskeleton. Shupliakov, O., Bloom, O., Gustafsson, J.S., Kjaerulff, O., Low, P., Tomilin, N., Pieribone, V.A., Greengard, P., Brodin, L. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  16. Stimulation of cardiac myosin adenosine triphosphatase in thyrotoxicosis. Morkin, E. Circ. Res. (1979) [Pubmed]
  17. Expression of ventricular myosin subunits in the atria of children with congenital heart malformations. Shi, Q.W., Danilczyk, U., Wang, J.X., See, Y.P., Williams, W.G., Trusler, G.A., Beaulieu, R., Rose, V., Jackowski, G. Circ. Res. (1991) [Pubmed]
  18. Localization of porcine cardiac myosin epitopes that induce experimental autoimmune myocarditis. Inomata, T., Hanawa, H., Miyanishi, T., Yajima, E., Nakayama, S., Maita, T., Kodama, M., Izumi, T., Shibata, A., Abo, T. Circ. Res. (1995) [Pubmed]
  19. Alendronate inhibits lysophosphatidic acid-induced migration of human ovarian cancer cells by attenuating the activation of rho. Sawada, K., Morishige, K., Tahara, M., Kawagishi, R., Ikebuchi, Y., Tasaka, K., Murata, Y. Cancer Res. (2002) [Pubmed]
  20. Myosin gene expression in the respiratory muscles. Gea, J.G. Eur. Respir. J. (1997) [Pubmed]
  21. Isolation and mapping of two porcine skeletal muscle myosin heavy chain isoforms. Davoli, R., Zambonelli, P., Bigi, D., Fontanesi, L., Russo, V. Anim. Genet. (1998) [Pubmed]
  22. Organization of human and mouse skeletal myosin heavy chain gene clusters is highly conserved. Weiss, A., McDonough, D., Wertman, B., Acakpo-Satchivi, L., Montgomery, K., Kucherlapati, R., Leinwand, L., Krauter, K. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  23. Myopathies associated with myosin heavy chain mutations. Oldfors, A., Tajsharghi, H., Darin, N., Lindberg, C. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. (2004) [Pubmed]
  24. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. Weiss, A., Schiaffino, S., Leinwand, L.A. J. Mol. Biol. (1999) [Pubmed]
  25. Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Laing, N.G., Ceuterick-de Groote, C., Dye, D.E., Liyanage, K., Duff, R.M., Dubois, B., Robberecht, W., Sciot, R., Martin, J.J., Goebel, H.H. Neurology (2005) [Pubmed]
  26. Intermuscular and intramuscular differences in myosin heavy chain composition of the human masticatory muscles. Korfage, J.A., Brugman, P., Van Eijden, T.M. J. Neurol. Sci. (2000) [Pubmed]
  27. Core binding factor beta-smooth muscle myosin heavy chain chimeric protein involved in acute myeloid leukemia forms unusual nuclear rod-like structures in transformed NIH 3T3 cells. Wijmenga, C., Gregory, P.E., Hajra, A., Schröck, E., Ried, T., Eils, R., Liu, P.P., Collins, F.S. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  28. Myogenic signaling of phosphatidylinositol 3-kinase requires the serine-threonine kinase Akt/protein kinase B. Jiang, B.H., Aoki, M., Zheng, J.Z., Li, J., Vogt, P.K. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  29. Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Rayment, I., Holden, H.M., Sellers, J.R., Fananapazir, L., Epstein, N.D. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  30. PKCalpha-mediated ERK, JNK and p38 activation regulates the myogenic program in human rhabdomyosarcoma cells. Mauro, A., Ciccarelli, C., De Cesaris, P., Scoglio, A., Bouché, M., Molinaro, M., Aquino, A., Zani, B.M. J. Cell. Sci. (2002) [Pubmed]
  31. Two LIM domain proteins and UNC-96 link UNC-97/pinch to myosin thick filaments in Caenorhabditis elegans muscle. Qadota, H., Mercer, K.B., Miller, R.K., Kaibuchi, K., Benian, G.M. Mol. Biol. Cell (2007) [Pubmed]
  32. Characterization of the metastasis-associated protein, S100A4. Roles of calcium binding and dimerization in cellular localization and interaction with myosin. Kim, E.J., Helfman, D.M. J. Biol. Chem. (2003) [Pubmed]
  33. A myosin I isoform in the nucleus. Pestic-Dragovich, L., Stojiljkovic, L., Philimonenko, A.A., Nowak, G., Ke, Y., Settlage, R.E., Shabanowitz, J., Hunt, D.F., Hozak, P., de Lanerolle, P. Science (2000) [Pubmed]
  34. Opposing effects of activin A and follistatin on developing skeletal muscle cells. Link, B.A., Nishi, R. Exp. Cell Res. (1997) [Pubmed]
  35. Leukemia inhibitory factor blocks early differentiation of skeletal muscle cells by activating ERK. Jo, C., Kim, H., Jo, I., Choi, I., Jung, S.C., Kim, J., Kim, S.S., Jo, S.A. Biochim. Biophys. Acta (2005) [Pubmed]
  36. Inverse expression of S100A4 and E-cadherin is associated with metastatic potential in gastric cancer. Yonemura, Y., Endou, Y., Kimura, K., Fushida, S., Bandou, E., Taniguchi, K., Kinoshita, K., Ninomiya, I., Sugiyama, K., Heizmann, C.W., Schafer, B.W., Sasaki, T. Clin. Cancer Res. (2000) [Pubmed]
  37. Pleomorphic rhabdomyosarcoma in adults: a clinicopathologic study of 38 cases with emphasis on morphologic variants and recent skeletal muscle-specific markers. Furlong, M.A., Mentzel, T., Fanburg-Smith, J.C. Mod. Pathol. (2001) [Pubmed]
  38. Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13. Xie, Y.G., Rochefort, D., Brais, B., Howard, H., Han, F.Y., Gou, L.P., Maciel, P., The, B.T., Larsson, C., Rouleau, G.A. Genomics (1998) [Pubmed]
  39. Cryotherapy modifies synthetic activity and differentiation of keloidal fibroblasts in vitro. Dalkowski, A., Fimmel, S., Beutler, C., Zouboulis, C.h.C. Exp. Dermatol. (2003) [Pubmed]
  40. Tissue culture as a diagnostic technique for soft-tissue sarcoma of childhood. Garvin, A.J., Drew, S.W., Hintz, D.S., Sens, D.A. Arch. Pathol. Lab. Med. (1984) [Pubmed]
  41. Myogenic differentiation by human processed lipoaspirate cells. Mizuno, H., Zuk, P.A., Zhu, M., Lorenz, H.P., Benhaim, P., Hedrick, M.H. Plast. Reconstr. Surg. (2002) [Pubmed]
  42. Molecular cloning and chromosomal localization of a gene coding for human cardiac myosin heavy-chain. Matsuoka, R., Yoshida, M.C., Takao, A. Jpn. Circ. J. (1990) [Pubmed]
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