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Gene Review

Dmd  -  dystrophin, muscular dystrophy

Mus musculus

Synonyms: DXSmh7, DXSmh9, Dp427, Dp71, Duchenne muscular dystrophy, ...
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Disease relevance of Dmd


Psychiatry related information on Dmd


High impact information on Dmd


Chemical compound and disease context of Dmd


Biological context of Dmd


Anatomical context of Dmd


Associations of Dmd with chemical compounds

  • Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle [12].
  • Using the muscle creatine kinase promoter, expression of the alpha 7BX2 integrin chain was increased 2.0-2.3-fold in mdx/utr(-/-) mice [13].
  • This suggests that enhanced expression of the alpha 7 beta 1 integrin may provide a novel approach to treat DMD and other muscle diseases that arise due to defects in the dystrophin glycoprotein complex [13].
  • Deletions within the cysteine-rich region disrupt the interaction between dystrophin and the DAP complex, leading to a severe dystrophic pathology [21].
  • For example, use of the Cn inhibitor cyclosporine A has been shown to delay muscle regeneration following toxin-induced injury and inhibit regeneration in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy [22].

Physical interactions of Dmd


Co-localisations of Dmd

  • In cardiocytes, utrophin was colocalized along transverse T tubules with dystrophin [28].
  • Here, we show by double-immunofluorescence staining that dystrophin is extensively colocalized with GABAA receptor subunit clusters in these brain regions [29].

Regulatory relationships of Dmd


Other interactions of Dmd


Analytical, diagnostic and therapeutic context of Dmd

  • Detailed study of these mice should provide novel insights into the pathogenesis of DMD and provide an improved model for rapid evaluation of gene therapy strategies [1].
  • We used immunofluorescence techniques and confocal imaging to study the organization of the membrane skeleton of skeletal muscle fibers of mdx mice, which lack dystrophin. beta-Spectrin is normally found at the sarcolemma in costameres, a rectilinear array of longitudinal strands and elements overlying Z and M lines [36].
  • Indeed, multiple forms of dystrophin protein were observed by western blot analysis, and the functionality of the products was demonstrated by the restoration of expression and localization of a dystrophin-associated protein, alpha-dystroglycan, in differentiated cells [37].
  • Indeed, by immunostaining and immunoblotting we found an approximately 2-fold increase in expression, and distinct extrasynaptic localization, of alpha 7B integrin and utrophin, the functional homolog of dystrophin [38].
  • Anchored PCR, primer extension and functional analysis of transfected constructs were used to determine the 5' end of the mRNA and characterize the promoter of this major DMD gene product [39].


  1. Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Deconinck, A.E., Rafael, J.A., Skinner, J.A., Brown, S.C., Potter, A.C., Metzinger, L., Watt, D.J., Dickson, J.G., Tinsley, J.M., Davies, K.E. Cell (1997) [Pubmed]
  2. Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy. Grady, R.M., Teng, H., Nichol, M.C., Cunningham, J.C., Wilkinson, R.S., Sanes, J.R. Cell (1997) [Pubmed]
  3. Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome. Heilig, R., Lemaire, C., Mandel, J.L., Dandolo, L., Amar, L., Avner, P. Nature (1987) [Pubmed]
  4. Expression of full-length utrophin prevents muscular dystrophy in mdx mice. Tinsley, J., Deconinck, N., Fisher, R., Kahn, D., Phelps, S., Gillis, J.M., Davies, K. Nat. Med. (1998) [Pubmed]
  5. Reduced levels of dystrophin associated proteins in the brains of mice deficient for Dp71. Greenberg, D.S., Schatz, Y., Levy, Z., Pizzo, P., Yaffe, D., Nudel, U. Hum. Mol. Genet. (1996) [Pubmed]
  6. Spatial discrimination learning and CA1 hippocampal synaptic plasticity in mdx and mdx3cv mice lacking dystrophin gene products. Vaillend, C., Billard, J.M., Claudepierre, T., Rendon, A., Dutar, P., Ungerer, A. Neuroscience (1998) [Pubmed]
  7. Behavioral characterization of mdx3cv mice deficient in C-terminal dystrophins. Vaillend, C., Ungerer, A. Neuromuscul. Disord. (1999) [Pubmed]
  8. Testing of SHIRPA, a mouse phenotypic assessment protocol, on Dmd(mdx) and Dmd(mdx3cv) dystrophin-deficient mice. Rafael, J.A., Nitta, Y., Peters, J., Davies, K.E. Mamm. Genome (2000) [Pubmed]
  9. Muscular weakness in the mdx mouse. Muntoni, F., Mateddu, A., Marchei, F., Clerk, A., Serra, G. J. Neurol. Sci. (1993) [Pubmed]
  10. Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice. Rafael, J.A., Tinsley, J.M., Potter, A.C., Deconinck, A.E., Davies, K.E. Nat. Genet. (1998) [Pubmed]
  11. Characterization of DRP2, a novel human dystrophin homologue. Roberts, R.G., Freeman, T.C., Kendall, E., Vetrie, D.L., Dixon, A.K., Shaw-Smith, C., Bone, Q., Bobrow, M. Nat. Genet. (1996) [Pubmed]
  12. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Ervasti, J.M., Ohlendieck, K., Kahl, S.D., Gaver, M.G., Campbell, K.P. Nature (1990) [Pubmed]
  13. Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice. Burkin, D.J., Wallace, G.Q., Nicol, K.J., Kaufman, D.J., Kaufman, S.J. J. Cell Biol. (2001) [Pubmed]
  14. Nitric oxide and l-arginine cause an accumulation of utrophin at the sarcolemma: a possible compensation for dystrophin loss in Duchenne muscular dystrophy. Chaubourt, E., Fossier, P., Baux, G., Leprince, C., Israël, M., De La Porte, S. Neurobiol. Dis. (1999) [Pubmed]
  15. Hypothyroidism prolongs and increases mdx muscle precursor proliferation and delays myotube formation in normal and dystrophic limb muscle. McIntosh, L.M., Anderson, J.E. Biochem. Cell Biol. (1995) [Pubmed]
  16. X chromosome-linked muscular dystrophy (mdx) in the mouse. Bulfield, G., Siller, W.G., Wight, P.A., Moore, K.J. Proc. Natl. Acad. Sci. U.S.A. (1984) [Pubmed]
  17. Expression of truncated utrophin leads to major functional improvements in dystrophin-deficient muscles of mice. Deconinck, N., Tinsley, J., De Backer, F., Fisher, R., Kahn, D., Phelps, S., Davies, K., Gillis, J.M. Nat. Med. (1997) [Pubmed]
  18. Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy. Cox, G.A., Sunada, Y., Campbell, K.P., Chamberlain, J.S. Nat. Genet. (1994) [Pubmed]
  19. Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice. Greenberg, D.S., Sunada, Y., Campbell, K.P., Yaffe, D., Nudel, U. Nat. Genet. (1994) [Pubmed]
  20. Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Sherman, D.L., Fabrizi, C., Gillespie, C.S., Brophy, P.J. Neuron (2001) [Pubmed]
  21. Forced expression of dystrophin deletion constructs reveals structure-function correlations. Rafael, J.A., Cox, G.A., Corrado, K., Jung, D., Campbell, K.P., Chamberlain, J.S. J. Cell Biol. (1996) [Pubmed]
  22. Genetic disruption of calcineurin improves skeletal muscle pathology and cardiac disease in a mouse model of limb-girdle muscular dystrophy. Parsons, S.A., Millay, D.P., Sargent, M.A., Naya, F.J., McNally, E.M., Sweeney, H.L., Molkentin, J.D. J. Biol. Chem. (2007) [Pubmed]
  23. In vivo requirement of the alpha-syntrophin PDZ domain for the sarcolemmal localization of nNOS and aquaporin-4. Adams, M.E., Mueller, H.A., Froehner, S.C. J. Cell Biol. (2001) [Pubmed]
  24. Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins. Song, K.S., Scherer, P.E., Tang, Z., Okamoto, T., Li, S., Chafel, M., Chu, C., Kohtz, D.S., Lisanti, M.P. J. Biol. Chem. (1996) [Pubmed]
  25. Stimulation of calcineurin signaling attenuates the dystrophic pathology in mdx mice. Chakkalakal, J.V., Harrison, M.A., Carbonetto, S., Chin, E., Michel, R.N., Jasmin, B.J. Hum. Mol. Genet. (2004) [Pubmed]
  26. Increased transduction of skeletal muscle cells by fibroblast growth factor-modified adenoviral vectors. Menezes, K.M., Mok, H.S., Barry, M.A. Hum. Gene Ther. (2006) [Pubmed]
  27. The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin. Rybakova, I.N., Patel, J.R., Ervasti, J.M. J. Cell Biol. (2000) [Pubmed]
  28. Utrophin localization in normal and dystrophin-deficient heart. Pons, F., Robert, A., Fabbrizio, E., Hugon, G., Califano, J.C., Fehrentz, J.A., Martinez, J., Mornet, D. Circulation (1994) [Pubmed]
  29. Short communication: altered synaptic clustering of GABAA receptors in mice lacking dystrophin (mdx mice). Knuesel, I., Mastrocola, M., Zuellig, R.A., Bornhauser, B., Schaub, M.C., Fritschy, J.M. Eur. J. Neurosci. (1999) [Pubmed]
  30. A- and B-utrophin have different expression patterns and are differentially up-regulated in mdx muscle. Weir, A.P., Burton, E.A., Harrod, G., Davies, K.E. J. Biol. Chem. (2002) [Pubmed]
  31. Calpain translocation during muscle fiber necrosis and regeneration in dystrophin-deficient mice. Spencer, M.J., Tidball, J.G. Exp. Cell Res. (1996) [Pubmed]
  32. Improved success of myoblast transplantation in mdx mice by blocking the myostatin signal. Benabdallah, B.F., Bouchentouf, M., Tremblay, J.P. Transplantation (2005) [Pubmed]
  33. Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice. Barton, E.R., Morris, L., Musaro, A., Rosenthal, N., Sweeney, H.L. J. Cell Biol. (2002) [Pubmed]
  34. Myogenic stem cell function is impaired in mice lacking the forkhead/winged helix protein MNF. Garry, D.J., Meeson, A., Elterman, J., Zhao, Y., Yang, P., Bassel-Duby, R., Williams, R.S. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  35. Heregulin ameliorates the dystrophic phenotype in mdx mice. Krag, T.O., Bogdanovich, S., Jensen, C.J., Fischer, M.D., Hansen-Schwartz, J., Javazon, E.H., Flake, A.W., Edvinsson, L., Khurana, T.S. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  36. Extensive but coordinated reorganization of the membrane skeleton in myofibers of dystrophic (mdx) mice. Williams, M.W., Bloch, R.J. J. Cell Biol. (1999) [Pubmed]
  37. Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping. Bertoni, C., Lau, C., Rando, T.A. Hum. Mol. Genet. (2003) [Pubmed]
  38. Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins. Moghadaszadeh, B., Albrechtsen, R., Guo, L.T., Zaik, M., Kawaguchi, N., Borup, R.H., Kronqvist, P., Schroder, H.D., Davies, K.E., Voit, T., Nielsen, F.C., Engvall, E., Wewer, U.M. Hum. Mol. Genet. (2003) [Pubmed]
  39. A housekeeping type promoter, located in the 3' region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene. Lederfein, D., Yaffe, D., Nudel, U. Hum. Mol. Genet. (1993) [Pubmed]
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