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Gene Review

MYH11  -  myosin, heavy chain 11, smooth muscle

Homo sapiens

Synonyms: AAT4, FAA4, KIAA0866, Myosin heavy chain 11, Myosin heavy chain, smooth muscle isoform, ...
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Disease relevance of MYH11


High impact information on MYH11

  • RNA hybridization and DNA sequence analysis indicate that this cDNA, called SMHCP, encodes a perinatal myosin heavy chain isoform [6].
  • Sequence analysis of candidate genes from the chromosome 16 disease interval excluded the presence of pathogenic mutations in the GRIN2A and MYH11 genes [7].
  • This higher affinity provides an explanation for the dominant negative phenotype associated with a knock-in of the CBFB-MYH11 gene and also helps to provide a rationale for the leukemia-associated dysregulation of hematopoietic development that this protein causes [8].
  • Subcellular localizations of the wild-type CBFbeta and the CBFbeta-SMMHC fusion protein were determined by immunofluorescence of NIH 3T3 cells that overexpress wild-type or fusion protein [9].
  • An inversion of chromosome 16 associated with the M4Eo subtype of acute myeloid leukemia produces a chimeric protein fusing the beta subunit of the transcription factor core binding factor (CBF beta) to the tail region of smooth muscle myosin heavy chain (SMMHC) [10].

Chemical compound and disease context of MYH11


Biological context of MYH11


Anatomical context of MYH11


Associations of MYH11 with chemical compounds

  • In situ hybridization of biotin-labeled human smooth muscle MHC probe (UMYHSM fragment) to normal human metaphase chromosome independently showed that the human smooth muscle MHC gene (MYH11) is assigned to chromosome region 16q12 [18].
  • Promoter hypermethylation of the retinoic acid receptor beta2 gene is frequent in acute myeloid leukaemia and associated with the presence of CBFbeta-MYH11 fusion transcripts [19].
  • Similar to TRAM-34, knockdown of endogenous IKCa1 with siRNA also prevented the PDGF-BB-induced increase in IKCa1 and decrease in SMMHC mRNA [20].
  • We measured airway responsiveness to methacholine in Fischer hyperresponsive and Lewis normoresponsive rats and determined SMMHC isoform mRNA and protein expression, as well as essential light chain (LC(17)) isoforms, h-caldesmon, and alpha-actin protein expression in their tracheae [21].
  • In contrast, six C. elegans members of this family (AAT-4 to AAT-9) lack such a cysteine residue [22].

Regulatory relationships of MYH11


Other interactions of MYH11


Analytical, diagnostic and therapeutic context of MYH11

  • In this study, we analyzed 37 cases of inv(16)-containing AML and 4 cases with t(16;16)(p13;q22) for expression of the CBF beta/MYH11 chimeric message by reverse transcription-polymerase chain reaction (PCR) analysis [2].
  • A very high molecular weight protein/DNA complex is generated when nuclear extracts from patient cells are used in electrophoretic mobility shift assays, as seen in NIH 3T3 cells transfected with the CBFB-MYH11 cDNA [16].
  • The partial nucleotide sequence encoding the rod portion of the entire amino acid sequence of human smooth muscle myosin heavy chain (MHC) which corresponds to MYH11, according to Human Gene Mapping nomenclature, has been determined by cloning a complementary DNA (cDNA) and sequencing the cDNA (UMYHSM) [18].
  • Molecular analysis of BM cells using RT-PCR identified a CBFB-MYH11 fusion transcript type D. After achieving complete remission, the patient relapsed [28].
  • Recently, the molecular cloning of teh breakpoints has led to the identification of the two fused genes, CBFB on 16q and MYH11 on 16p [29].


  1. Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11. Castilla, L.H., Wijmenga, C., Wang, Q., Stacy, T., Speck, N.A., Eckhaus, M., Marín-Padilla, M., Collins, F.S., Wynshaw-Boris, A., Liu, P.P. Cell (1996) [Pubmed]
  2. Heterogeneity in CBF beta/MYH11 fusion messages encoded by the inv(16)(p13q22) and the t(16;16)(p13;q22) in acute myelogenous leukemia. Shurtleff, S.A., Meyers, S., Hiebert, S.W., Raimondi, S.C., Head, D.R., Willman, C.L., Wolman, S., Slovak, M.L., Carroll, A.J., Behm, F. Blood (1995) [Pubmed]
  3. Smooth muscle myosin heavy chain locus (MYH11) maps to 16p13.13-p13.12 and establishes a new region of conserved synteny between human 16p and mouse 16. Deng, Z., Liu, P., Marlton, P., Claxton, D.F., Lane, S., Callen, D.F., Collins, F.S., Siciliano, M.J. Genomics (1993) [Pubmed]
  4. Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. Meloni, I., Rubegni, P., De Aloe, G., Bruttini, M., Pianigiani, E., Cusano, R., Seri, M., Mondillo, S., Federico, A., Bardelli, A.M., Andreassi, L., Fimiani, M., Renieri, A. Hum. Mutat. (2001) [Pubmed]
  5. MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Pannu, H., Tran-Fadulu, V., Papke, C.L., Scherer, S., Liu, Y., Presley, C., Guo, D., Estrera, A.L., Safi, H.J., Brasier, A.R., Vick, G.W., Marian, A.J., Raman, C.S., Buja, L.M., Milewicz, D.M. Hum. Mol. Genet. (2007) [Pubmed]
  6. Molecular genetic characterization of a developmentally regulated human perinatal myosin heavy chain. Feghali, R., Leinwand, L.A. J. Cell Biol. (1989) [Pubmed]
  7. Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity. Capon, F., Reece, A., Ravindrarajah, R., Chung, E. Am. J. Hum. Genet. (2006) [Pubmed]
  8. Altered affinity of CBF beta-SMMHC for Runx1 explains its role in leukemogenesis. Lukasik, S.M., Zhang, L., Corpora, T., Tomanicek, S., Li, Y., Kundu, M., Hartman, K., Liu, P.P., Laue, T.M., Biltonen, R.L., Speck, N.A., Bushweller, J.H. Nat. Struct. Biol. (2002) [Pubmed]
  9. 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]
  10. The leukemic core binding factor beta-smooth muscle myosin heavy chain (CBF beta-SMMHC) chimeric protein requires both CBF beta and myosin heavy chain domains for transformation of NIH 3T3 cells. Hajra, A., Liu, P.P., Wang, Q., Kelley, C.A., Stacy, T., Adelstein, R.S., Speck, N.A., Collins, F.S. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  11. Inversion of chromosome 16 and uncommon rearrangements of the CBFB and MYH11 genes in therapy-related acute myeloid leukemia: rare events related to DNA-topoisomerase II inhibitors? Dissing, M., Le Beau, M.M., Pedersen-Bjergaard, J. J. Clin. Oncol. (1998) [Pubmed]
  12. Molecular diagnostics in the treatment of leukemia. Rubnitz, J.E., Pui, C.H. Curr. Opin. Hematol. (1999) [Pubmed]
  13. Role of Cbfb in hematopoiesis and perturbations resulting from expression of the leukemogenic fusion gene Cbfb-MYH11. Kundu, M., Chen, A., Anderson, S., Kirby, M., Xu, L., Castilla, L.H., Bodine, D., Liu, P.P. Blood (2002) [Pubmed]
  14. CEBPalpha mutations in childhood acute myeloid leukemia. Liang, D.C., Shih, L.Y., Huang, C.F., Hung, I.J., Yang, C.P., Liu, H.C., Jaing, T.H., Wang, L.Y., Chang, W.H. Leukemia (2005) [Pubmed]
  15. Mechanism of leukemogenesis by the inv(16) chimeric gene CBFB/PEBP2B-MHY11. Shigesada, K., van de Sluis, B., Liu, P.P. Oncogene (2004) [Pubmed]
  16. Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells. Liu, P.P., Wijmenga, C., Hajra, A., Blake, T.B., Kelley, C.A., Adelstein, R.S., Bagg, A., Rector, J., Cotelingam, J., Willman, C.L., Collins, F.S. Genes Chromosomes Cancer (1996) [Pubmed]
  17. The leukemic protein core binding factor beta (CBFbeta)-smooth-muscle myosin heavy chain sequesters CBFalpha2 into cytoskeletal filaments and aggregates. Adya, N., Stacy, T., Speck, N.A., Liu, P.P. Mol. Cell. Biol. (1998) [Pubmed]
  18. Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12. Matsuoka, R., Yoshida, M.C., Furutani, Y., Imamura, S., Kanda, N., Yanagisawa, M., Masaki, T., Takao, A. Am. J. Med. Genet. (1993) [Pubmed]
  19. Promoter hypermethylation of the retinoic acid receptor beta2 gene is frequent in acute myeloid leukaemia and associated with the presence of CBFbeta-MYH11 fusion transcripts. Rethmeier, A., Aggerholm, A., Olesen, L.H., Juhl-Christensen, C., Nyvold, C.G., Guldberg, P., Hokland, P. Br. J. Haematol. (2006) [Pubmed]
  20. Upregulation of intermediate-conductance Ca2+-activated K+ channel (IKCa1) mediates phenotypic modulation of coronary smooth muscle. Tharp, D.L., Wamhoff, B.R., Turk, J.R., Bowles, D.K. Am. J. Physiol. Heart Circ. Physiol. (2006) [Pubmed]
  21. Smooth muscle myosin isoform expression and LC20 phosphorylation in innate rat airway hyperresponsiveness. Gil, F.R., Zitouni, N.B., Azoulay, E., Maghni, K., Lauzon, A.M. Am. J. Physiol. Lung Cell Mol. Physiol. (2006) [Pubmed]
  22. Aromatic amino acid transporter AAT-9 of Caenorhabditis elegans localizes to neurons and muscle cells. Veljkovic, E., Bacconi, A., Stetak, A., Hajnal, A., Stasiuk, S., Skelly, P.J., Forster, I., Shoemaker, C.B., Verrey, F. J. Biol. Chem. (2004) [Pubmed]
  23. The core binding factor (CBF) alpha interaction domain and the smooth muscle myosin heavy chain (SMMHC) segment of CBFbeta-SMMHC are both required to slow cell proliferation. Cao, W., Adya, N., Britos-Bray, M., Liu, P.P., Friedman, A.D. J. Biol. Chem. (1998) [Pubmed]
  24. Myelomonoblastic leukaemia cells carrying the PEBP2beta/MYH11 fusion gene are CD34, c-KIT+ immature cells. Osato, M., Asou, N., Okubo, T., Nishimura, S., Yamasaki, H., Era, T., Suzushima, H., Kawano, F., Matsuoka, R., Oka, H., Bae, S.C., Ito, Y., Takatsuki, K. Br. J. Haematol. (1997) [Pubmed]
  25. The tyrosine kinase abl-related gene ARG is fused to ETV6 in an AML-M4Eo patient with a t(1;12)(q25;p13): molecular cloning of both reciprocal transcripts. Cazzaniga, G., Tosi, S., Aloisi, A., Giudici, G., Daniotti, M., Pioltelli, P., Kearney, L., Biondi, A. Blood (1999) [Pubmed]
  26. Multimerization via its myosin domain facilitates nuclear localization and inhibition of core binding factor (CBF) activities by the CBFbeta-smooth muscle myosin heavy chain myeloid leukemia oncoprotein. Kummalue, T., Lou, J., Friedman, A.D. Mol. Cell. Biol. (2002) [Pubmed]
  27. CBFbeta-SMMHC, expressed in M4eo acute myeloid leukemia, reduces p53 induction and slows apoptosis in hematopoietic cells exposed to DNA-damaging agents. Britos-Bray, M., Ramirez, M., Cao, W., Wang, X., Liu, P.P., Civin, C.I., Friedman, A.D. Blood (1998) [Pubmed]
  28. Variant three-way translocation of inversion 16 in AML-M4Eo confirmed by fluorescence in situ hybridization analysis. Martinez-Climent, J.A., Comes, A.M., Vizcarra, E., Reshmi, S., Benet, I., Marugan, I., Tormo, M., Terol, M.J., Solano, C., Arbona, C., Prosper, F., Barragan, E., Bolufer, P., Rowley, J.D., García-Conde, J. Cancer Genet. Cytogenet. (1999) [Pubmed]
  29. Detection of minimal residual disease in acute myelomonocytic leukemia with abnormal marrow eosinophils by nested polymerase chain reaction with allele specific amplification. Hébert, J., Cayuela, J.M., Daniel, M.T., Berger, R., Sigaux, F. Blood (1994) [Pubmed]
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