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Gene Review

DMD  -  dystrophin

Homo sapiens

Synonyms: BMD, CMD3B, DXS142, DXS164, DXS206, ...
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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


Physical interactions of DMD

  • Syntrophin binds to an alternatively spliced exon of dystrophin [16].
  • The constructed evolutionary tree also implies that the vertebrate small and simple structured gene encoding a Dp71-like protein, called DRP2 , evolved from the dystrophin/utrophin ancestral large and complex gene by a duplication of only a small part of the gene [25].
  • A beta-dystrobrevin antibody recognized a protein of the predicted size (71 kDa) that copurified with the dystrophin short form, Dp71 [26].
  • These results suggest that an extremely short dystrophin lacking the entire actin-binding site in the N-terminus cannot function properly even if the protein possesses the putative DAG-binding cysteine-rich and the C-terminal domains, and still has an ability to associate with sarcolemmal membrane [27].
  • The 2.0 A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin [28].

Enzymatic interactions of DMD

  • The observation that a monoclonal antibody directed against epitopes within exons 73-74 (MANEX7374A) failed to detect this 58 kDa protein provides definitive evidence that Dp71 big up tri, open(110) is derived from Dp71 transcripts deleted for the syntrophin-binding domain [29].
  • INTERPRETATION: The molecular mechanism of this subtype of X-linked cardiomyopathy may be explained by a conformational change in exon-29-deleted dystrophin, resulting in disruption of the sarcoglycan assembly in heart muscle but not skeletal muscle [30].

Co-localisations of DMD


Regulatory relationships of DMD


Other interactions of DMD


Analytical, diagnostic and therapeutic context of DMD


  1. Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene. Bittner, R.E., Shorny, S., Ferlings, R., Sperl, W., Kress, W., Müller, C.R., Cremer, M., Léger, J.J., Voit, T. Neuromuscul. Disord. (1995) [Pubmed]
  2. The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related. Taylor, J., Muntoni, F., Dubowitz, V., Sewry, C.A. Neuropathol. Appl. Neurobiol. (1997) [Pubmed]
  3. Molecular, cellular, and pharmacological therapies for Duchenne/Becker muscular dystrophies. Chakkalakal, J.V., Thompson, J., Parks, R.J., Jasmin, B.J. FASEB J. (2005) [Pubmed]
  4. Localization and quantitation of the chromosome 6-encoded dystrophin-related protein in normal and pathological human muscle. Karpati, G., Carpenter, S., Morris, G.E., Davies, K.E., Guerin, C., Holland, P. J. Neuropathol. Exp. Neurol. (1993) [Pubmed]
  5. A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy. Bies, R.D., Maeda, M., Roberds, S.L., Holder, E., Bohlmeyer, T., Young, J.B., Campbell, K.P. J. Mol. Cell. Cardiol. (1997) [Pubmed]
  6. Dystrophin is transcribed in brain from a distant upstream promoter. Boyce, F.M., Beggs, A.H., Feener, C., Kunkel, L.M. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  7. Psychological studies in dystonia musculorum deformans. Riklan, M., Cullinan, T., Cooper, I.S. Advances in neurology. (1976) [Pubmed]
  8. Psychiatric disorder among boys with Duchenne muscular dystrophy. Fitzpatrick, C., Barry, C., Garvey, C. Developmental medicine and child neurology. (1986) [Pubmed]
  9. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Blake, D.J., Weir, A., Newey, S.E., Davies, K.E. Physiol. Rev. (2002) [Pubmed]
  10. Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions. Torelli, S., Brown, S.C., Jimenez-Mallebrera, C., Feng, L., Muntoni, F., Sewry, C.A. Neuropathol. Appl. Neurobiol. (2004) [Pubmed]
  11. A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Lenk, U., Oexle, K., Voit, T., Ancker, U., Hellner, K.A., Speer, A., Hübner, C. Hum. Mol. Genet. (1996) [Pubmed]
  12. Localization of dystrophin and beta-spectrin in vacuolar myopathies. De Bleecker, J.L., Engel, A.G., Winkelmann, J.C. Am. J. Pathol. (1993) [Pubmed]
  13. Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene. Monaco, A.P. Trends Biochem. Sci. (1989) [Pubmed]
  14. The 87K postsynaptic membrane protein from Torpedo is a protein-tyrosine kinase substrate homologous to dystrophin. Wagner, K.R., Cohen, J.B., Huganir, R.L. Neuron (1993) [Pubmed]
  15. The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain. Khurana, T.S., Watkins, S.C., Kunkel, L.M. J. Cell Biol. (1992) [Pubmed]
  16. Syntrophin binds to an alternatively spliced exon of dystrophin. Ahn, A.H., Kunkel, L.M. J. Cell Biol. (1995) [Pubmed]
  17. The utrophin and dystrophin genes share similarities in genomic structure. Pearce, M., Blake, D.J., Tinsley, J.M., Byth, B.C., Campbell, L., Monaco, A.P., Davies, K.E. Hum. Mol. Genet. (1993) [Pubmed]
  18. Could utrophin rescue the myocardium of patients with dystrophin gene mutations? Fanin, M., Melacini, P., Angelini, C., Danieli, G.A. J. Mol. Cell. Cardiol. (1999) [Pubmed]
  19. iNOS expression in dystrophinopathies can be reduced by somatic gene transfer of dystrophin or utrophin. Louboutin, J.P., Rouger, K., Tinsley, J.M., Halldorson, J., Wilson, J.M. Mol. Med. (2001) [Pubmed]
  20. Dystrophin and related proteins. Tinsley, J.M., Blake, D.J., Pearce, M., Knight, A.E., Kendrick-Jones, J., Davies, K.E. Curr. Opin. Genet. Dev. (1993) [Pubmed]
  21. The effect of glucocorticoids on the accumulation of utrophin by cultured normal and dystrophic human skeletal muscle satellite cells. Pasquini, F., Guerin, C., Blake, D., Davies, K., Karpati, G., Holland, P. Neuromuscul. Disord. (1995) [Pubmed]
  22. Association of utrophin and multiple dystrophin short forms with the mammalian M(r) 58,000 dystrophin-associated protein (syntrophin). Kramarcy, N.R., Vidal, A., Froehner, S.C., Sealock, R. J. Biol. Chem. (1994) [Pubmed]
  23. Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. Sadoulet-Puccio, H.M., Khurana, T.S., Cohen, J.B., Kunkel, L.M. Hum. Mol. Genet. (1996) [Pubmed]
  24. ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan. Ishikawa-Sakurai, M., Yoshida, M., Imamura, M., Davies, K.E., Ozawa, E. Hum. Mol. Genet. (2004) [Pubmed]
  25. A sea urchin gene encoding dystrophin-related proteins. Wang, J., Pansky, A., Venuti, J.M., Yaffe, D., Nudel, U. Hum. Mol. Genet. (1998) [Pubmed]
  26. beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. Peters, M.F., O'Brien, K.F., Sadoulet-Puccio, H.M., Kunkel, L.M., Adams, M.E., Froehner, S.C. J. Biol. Chem. (1997) [Pubmed]
  27. A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin. Arikawa-Hirasawa, E., Koga, R., Tsukahara, T., Nonaka, I., Mitsudome, A., Goto, K., Beggs, A.H., Arahata, K. Neuromuscul. Disord. (1995) [Pubmed]
  28. The 2.0 A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin. Keep, N.H., Norwood, F.L., Moores, C.A., Winder, S.J., Kendrick-Jones, J. J. Mol. Biol. (1999) [Pubmed]
  29. Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain. Austin, R.C., Morris, G.E., Howard, P.L., Klamut, H.J., Ray, P.N. Neuromuscul. Disord. (2000) [Pubmed]
  30. Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. Franz, W.M., Müller, M., Müller, O.J., Herrmann, R., Rothmann, T., Cremer, M., Cohn, R.D., Voit, T., Katus, H.A. Lancet (2000) [Pubmed]
  31. Insulin induces myocardial protection and Hsp70 localization to plasma membranes in rat hearts. Li, G., Ali, I.S., Currie, R.W. Am. J. Physiol. Heart Circ. Physiol. (2006) [Pubmed]
  32. Distinct patterns of dystrophin organization in myocyte sarcolemma and transverse tubules of normal and diseased human myocardium. Kaprielian, R.R., Stevenson, S., Rothery, S.M., Cullen, M.J., Severs, N.J. Circulation (2000) [Pubmed]
  33. Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophies. Vainzof, M., Passos-Bueno, M.R., Man, N., Zatz, M. Am. J. Med. Genet. (1995) [Pubmed]
  34. Dystrophin antisense oligonucleotides decrease expression of nNOS in human neurons. Sogos, V., Reali, C., Fanni, V., Curto, M., Gremo, F. Brain Res. Mol. Brain Res. (2003) [Pubmed]
  35. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Feener, C.A., Koenig, M., Kunkel, L.M. Nature (1989) [Pubmed]
  36. The dystrophin promoter is negatively regulated by YY1 in undifferentiated muscle cells. Galvagni, F., Cartocci, E., Oliviero, S. J. Biol. Chem. (1998) [Pubmed]
  37. Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy. Inose, M., Higuchi, I., Nakagawa, M., Kashio, N., Osame, M. Muscle Nerve (1999) [Pubmed]
  38. Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy. Mizuno, Y., Yoshida, M., Nonaka, I., Hirai, S., Ozawa, E. Muscle Nerve (1994) [Pubmed]
  39. Aquaporin-4 is increased in the sclerotic hippocampus in human temporal lobe epilepsy. Lee, T.S., Eid, T., Mane, S., Kim, J.H., Spencer, D.D., Ottersen, O.P., de Lanerolle, N.C. Acta Neuropathol. (2004) [Pubmed]
  40. Differential expression of dystrophin, utrophin and dystrophin-associated proteins in peripheral nerve. Matsumura, K., Yamada, H., Shimizu, T., Campbell, K.P. FEBS Lett. (1993) [Pubmed]
  41. Dystrophin and utrophin: genetic analyses of their role in skeletal muscle. Rafael, J.A., Brown, S.C. Microsc. Res. Tech. (2000) [Pubmed]
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