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Gene Review

Dmd  -  dystrophin

Rattus norvegicus

Synonyms: Dystrophin
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Disease relevance of Dmd

  • Here we present evidence for a 4.8kb transcript from the DMD locus which is ubiquitously expressed but is particularly abundant in Schwannoma cells where dystrophin could not be detected [1].
  • Dystrophin was distributed exclusively in the membrane of myocytes in the normally perfused heart but was redistributed to the myofibril fraction after 30 min of ischemia and was lost from both of these compartments during reperfusion in the presence or absence of BDM [2].
  • The loss of dystrophin preceded uptake of the membrane-impermeable Evans blue dye by myocytes that occurred after the withdrawal of BDM and was associated with creatine kinase release and the development of contracture [2].
  • The abnormal retinal neurotransmission observed in Duchenne muscular dystrophy patients has been attributed to altered expression of C-terminal products of the dystrophin gene in this tissue [3].
  • Genetic strategies to replace defective dystrophin with utrophin in individuals with muscular dystrophy requires full characterization of these proteins [4].

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


Other interactions of Dmd


Analytical, diagnostic and therapeutic context of Dmd

  • Ischemic preconditioning-mediated restoration of membrane dystrophin during reperfusion correlates with protection against contraction-induced myocardial injury [2].
  • In the Western blot analysis, alpha-dystrobrevin and dystrophin were first detected as visible bands on days 5 and 7, respectively [21].
  • Loss of intracellular dystrophin: a potential mechanism for myocardial reperfusion injury [16].
  • Furthermore, quantification of immunofluorescence in labeled transverse sections reveals that beta-spectrin is also concentrated in perijunctional regions, in parallel with an increase in labeling of VGSCs and ankyrinG, but not of dystrophin [22].
  • Here, electron microscopy and 3D reconstruction of F-actin decorated with utrophin and dystrophin actin-binding constructs were performed using Utr261 (utrophin's CH domain pair), Utr416 (utrophin's CH domains and first spectrin-repeat) and Dys246 (dystrophin's CH domain pair) [4].


  1. Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells. Blake, D.J., Love, D.R., Tinsley, J., Morris, G.E., Turley, H., Gatter, K., Dickson, G., Edwards, Y.H., Davies, K.E. Hum. Mol. Genet. (1992) [Pubmed]
  2. Ischemic preconditioning-mediated restoration of membrane dystrophin during reperfusion correlates with protection against contraction-induced myocardial injury. Kido, M., Otani, H., Kyoi, S., Sumida, T., Fujiwara, H., Okada, T., Imamura, H. Am. J. Physiol. Heart Circ. Physiol. (2004) [Pubmed]
  3. Characterization of the intermolecular associations of the dystrophin-associated glycoprotein complex in retinal Müller glial cells. Claudepierre, T., Dalloz, C., Mornet, D., Matsumura, K., Sahel, J., Rendon, A. J. Cell. Sci. (2000) [Pubmed]
  4. An atomic model for actin binding by the CH domains and spectrin-repeat modules of utrophin and dystrophin. Sutherland-Smith, A.J., Moores, C.A., Norwood, F.L., Hatch, V., Craig, R., Kendrick-Jones, J., Lehman, W. J. Mol. Biol. (2003) [Pubmed]
  5. Decreased in vivo glucose uptake but normal expression of GLUT1 and GLUT4 in skeletal muscle of diabetic rats. Kahn, B.B., Rossetti, L., Lodish, H.F., Charron, M.J. J. Clin. Invest. (1991) [Pubmed]
  6. Differential expression of dystrophin isoforms and utrophin during dibutyryl-cAMP-induced morphological differentiation of rat brain astrocytes. Imamura, M., Ozawa, E. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  7. Spatial relationship of the C-terminal domains of dystrophin and beta-dystroglycan in cardiac muscle support a direct molecular interaction at the plasma membrane interface. Stevenson, S., Rothery, S., Cullen, M.J., Severs, N.J. Circ. Res. (1998) [Pubmed]
  8. Prednisone can protect against exercise-induced muscle damage. Jacobs, S.C., Bootsma, A.L., Willems, P.W., Bär, P.R., Wokke, J.H. J. Neurol. (1996) [Pubmed]
  9. Dystrophin upregulation in pressure-overloaded cardiac hypertrophy in rats. Maeda, M., Biro, S., Kamogawa, Y., Hirakawa, T., Setoguchi, M., Tei, C. Cell Motil. Cytoskeleton (2003) [Pubmed]
  10. Dystrophin (Xp21), a new phenotype marker of cultured rat aortic myocytes. Lees, D., Fabbrizio, E., Mornet, D., Harricane, M.C., Travo, P. Exp. Cell Res. (1994) [Pubmed]
  11. Dystrophin Dp71 is required for neurite outgrowth in PC12 cells. Acosta, R., Montañez, C., Fuentes-Mera, L., Gonzalez, E., Gómez, P., Quintero-Mora, L., Mornet, D., Alvarez-Salas, L.M., Cisneros, B. Exp. Cell Res. (2004) [Pubmed]
  12. Expression of Dp71 in Müller glial cells: a comparison with utrophin- and dystrophin-associated proteins. Claudepierre, T., Mornet, D., Pannicke, T., Forster, V., Dalloz, C., Bolaños, F., Sahel, J., Reichenbach, A., Rendon, A. Invest. Ophthalmol. Vis. Sci. (2000) [Pubmed]
  13. Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type-specific expression of the human muscle dystrophin gene. Gilgenkrantz, H., Hugnot, J.P., Lambert, M., Chafey, P., Kaplan, J.C., Kahn, A. J. Biol. Chem. (1992) [Pubmed]
  14. Localization of alpha 7 integrins and dystrophin suggests potential for both lateral and longitudinal transmission of tension in large mammalian muscles. Paul, A.C., Sheard, P.W., Kaufman, S.J., Duxson, M.J. Cell Tissue Res. (2002) [Pubmed]
  15. Subcellular localization of components of the dystrophin glycoprotein complex in cultured retinal muller glial cells. Méhes, E., Mornet, D., Jancsik, V. Acta. Biol. Hung. (2003) [Pubmed]
  16. Loss of intracellular dystrophin: a potential mechanism for myocardial reperfusion injury. Kyoi, S., Otani, H., Sumida, T., Okada, T., Osako, M., Imamura, H., Kamihata, H., Matsubara, H., Iwasaka, T. Circ. J. (2003) [Pubmed]
  17. Expression of agrin, dystroglycan, and utrophin in normal renal tissue and in experimental glomerulopathies. Raats, C.J., van den Born, J., Bakker, M.A., Oppers-Walgreen, B., Pisa, B.J., Dijkman, H.B., Assmann, K.J., Berden, J.H. Am. J. Pathol. (2000) [Pubmed]
  18. Dystroglycan in the cerebellum is a laminin alpha 2-chain binding protein at the glial-vascular interface and is expressed in Purkinje cells. Tian, M., Jacobson, C., Gee, S.H., Campbell, K.P., Carbonetto, S., Jucker, M. Eur. J. Neurosci. (1996) [Pubmed]
  19. Immunolocalization of dystrobrevin in the astrocytic endfeet and endothelial cells in the rat cerebellum. Ueda, H., Baba, T., Terada, N., Kato, Y., Fujii, Y., Takayama, I., Mei, X., Ohno, S. Neurosci. Lett. (2000) [Pubmed]
  20. Expression of different isoforms of nitric oxide synthase in experimentally denervated and reinnervated skeletal muscle. Tews, D.S., Goebel, H.H., Schneider, I., Gunkel, A., Stennert, E., Neiss, W.F. J. Neuropathol. Exp. Neurol. (1997) [Pubmed]
  21. The expression of alpha-dystrobrevin and dystrophin during skeletal muscle regeneration. Hoshino, S., Ohkoshi, N., Ishii, A., Shoji, S. J. Muscle Res. Cell. Motil. (2002) [Pubmed]
  22. beta-Spectrin is colocalized with both voltage-gated sodium channels and ankyrinG at the adult rat neuromuscular junction. Wood, S.J., Slater, C.R. J. Cell Biol. (1998) [Pubmed]
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