Gene Symbol: dmd
Description: dystrophin
Alias: Dp71, cb664, im:6911785, zfDYS, zgc:110165, dystrophin, Duchenne muscular dystrophy, dystrophin isoform Dp116, sap, sapje, sapje-like
Species: zebrafish
Products:     dmd

Top Publications

  1. Guyon J, Mosley A, Zhou Y, O Brien K, Sheng X, Chiang K, et al. The dystrophin associated protein complex in zebrafish. Hum Mol Genet. 2003;12:601-15 pubmed
    Many cases of muscular dystrophy in humans are caused by mutations in members of the dystrophin associated protein complex (DAPC)...
  2. Bolanos Jimenez F, Bordais A, Behra M, Strahle U, Sahel J, Rendon A. Dystrophin and Dp71, two products of the DMD gene, show a different pattern of expression during embryonic development in zebrafish. Mech Dev. 2001;102:239-41 pubmed
    Dystrophin, the protein defective in Duchenne muscular dystrophy (DMD), plays a critical role in the formation and maintenance of the neuromuscular junction...
  3. Parsons M, Campos I, Hirst E, Stemple D. Removal of dystroglycan causes severe muscular dystrophy in zebrafish embryos. Development. 2002;129:3505-12 pubmed
    Muscular dystrophy is frequently caused by disruption of the dystrophin-glycoprotein complex (DGC), which links muscle cells to the extracellular matrix...
  4. Berger J, Berger S, Hall T, Lieschke G, Currie P. Dystrophin-deficient zebrafish feature aspects of the Duchenne muscular dystrophy pathology. Neuromuscul Disord. 2010;20:826-32 pubmed publisher
    b>Duchenne muscular dystrophy is caused by mutations in the dystrophin gene...
  5. Guyon J, Mosley A, Jun S, Montanaro F, Steffen L, Zhou Y, et al. Delta-sarcoglycan is required for early zebrafish muscle organization. Exp Cell Res. 2005;304:105-15 pubmed
    ..Like other members of the dystrophin-associated protein complex (DAPC), delta-sarcoglycan localizes to the sarcolemmal membrane of the myofiber in ..
  6. Berger J, Berger S, Jacoby A, Wilton S, Currie P. Evaluation of exon-skipping strategies for Duchenne muscular dystrophy utilizing dystrophin-deficient zebrafish. J Cell Mol Med. 2011;15:2643-51 pubmed publisher
    Duchenne muscular dystophy (DMD) is a severe muscle wasting disease caused by mutations in the dystrophin gene...
  7. Granato M, van Eeden F, Schach U, Trowe T, Brand M, Furutani Seiki M, et al. Genes controlling and mediating locomotion behavior of the zebrafish embryo and larva. Development. 1996;123:399-413 pubmed
    ..Mutations in two genes, nevermind (nev) and macho (mao), affect axonal projection in the optic tectum, whereas axon formation and elongation of motorneurons are disrupted by mutations in the diwanka (diw) and the unplugged (unp) genes. ..
  8. Kawahara G, Guyon J, Nakamura Y, Kunkel L. Zebrafish models for human FKRP muscular dystrophies. Hum Mol Genet. 2010;19:623-33 pubmed publisher
    ..Interestingly, these morphant fish having human FKRP mutations showed a wide phenotypic range similar to that seen in humans. ..
  9. Jacoby A, Busch Nentwich E, Bryson Richardson R, Hall T, Berger J, Berger S, et al. The zebrafish dystrophic mutant softy maintains muscle fibre viability despite basement membrane rupture and muscle detachment. Development. 2009;136:3367-76 pubmed publisher
    ..This demonstration of a muscular dystrophy model possessing innate fibre viability following muscle detachment suggests basement membrane augmentation as a therapeutic strategy to inhibit myofibre loss. ..

More Information


  1. Guyon J, Goswami J, Jun S, Thorne M, Howell M, Pusack T, et al. Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Hum Mol Genet. 2009;18:202-11 pubmed publisher
    ..This mutation is similar to splicing mutations associated with human forms of Duchenne Muscular Dystrophy. Sapje-like is the first zebrafish dystrophin splicing mutant identified to date and represents a novel ..
  2. Etard C, Behra M, Ertzer R, Fischer N, Jesuthasan S, Blader P, et al. Mutation in the delta-subunit of the nAChR suppresses the muscle defects caused by lack of Dystrophin. Dev Dyn. 2005;234:1016-25 pubmed
    ..furthermore, demonstrated that the sop/delta-nAChR mutation is a suppressor of the myopathy caused by lack of Dystrophin. The myofiber detachment phenotype of Dystroglycan-deficient embryos was not suppressed, suggesting that ..
  3. Bassett D, Bryson Richardson R, Daggett D, Gautier P, Keenan D, Currie P. Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo. Development. 2003;130:5851-60 pubmed
    ..we show that one of these mutations, sapje, disrupts the zebrafish orthologue of the X-linked human Duchenne muscular dystrophy (DMD) gene...
  4. Berger J, Sztal T, Currie P. Quantification of birefringence readily measures the level of muscle damage in zebrafish. Biochem Biophys Res Commun. 2012;423:785-8 pubmed publisher
    ..have been generated and analysed, including dystrophin-deficient zebrafish mutants dmd that model Duchenne Muscular Dystrophy. Under polarised light the zebrafish muscle can be detected as a bright area in an otherwise dark ..
  5. Pagnon Minot A, Malbouyres M, Haftek Terreau Z, Kim H, Sasaki T, Thisse C, et al. Collagen XV, a novel factor in zebrafish notochord differentiation and muscle development. Dev Biol. 2008;316:21-35 pubmed publisher
    ..Together, these results indicate that collagen XV is required for notochord differentiation and muscle development in the zebrafish embryo and that it interplays with Shh signalling. ..
  6. Rau F, Lainé J, Ramanoudjame L, Ferry A, Arandel L, Delalande O, et al. Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy. Nat Commun. 2015;6:7205 pubmed publisher
    ..muscles of DM1 patients is due to the functional loss of MBNL1 and leads to the re-expression of an embryonic dystrophin in place of the adult isoform...
  7. Li M, Andersson Lendahl M, Sejersen T, Arner A. Muscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatment. FASEB J. 2014;28:1593-9 pubmed publisher
    ..They display several of the structural characteristics of Duchenne muscular dystrophy (DMD)...
  8. Zhang R, Yang J, Zhu J, Xu X. Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. Hum Mol Genet. 2009;18:4130-40 pubmed publisher
    ..In addition, our data prompted a novel hypothesis that predicts that the transcription level of Tcap can be regulated by the stretch force to ensure proper sarcomere-membrane interaction in striated muscles...
  9. Chen S, Zeng M, Sun H, Deng W, Lu Y, Tao D, et al. Zebrafish Dnd protein binds to 3'UTR of geminin mRNA and regulates its expression. BMB Rep. 2010;43:438-44 pubmed
    ..Taken together, the identification of target mRNA for ZDnd will be helpful to further explore the biological function of Dnd in zebrafish germ-line development as well as in cancer cells. ..
  10. Gupta V, Kawahara G, Gundry S, Chen A, Lencer W, Zhou Y, et al. The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet. 2011;20:1712-25 pubmed publisher
  11. Chambers S, Anderson L, Maguire G, Dodd A, Love D. Sarcoglycans of the zebrafish: orthology and localization to the sarcolemma and myosepta of muscle. Biochem Biophys Res Commun. 2003;303:488-95 pubmed
    ..modelling potential, we report here the identification of apparent orthologues of many critical members of the dystrophin-associated glycoprotein complex (DGC) that have been implicated in a diverse range of neuromuscular disorders...
  12. Bassett D, Currie P. Identification of a zebrafish model of muscular dystrophy. Clin Exp Pharmacol Physiol. 2004;31:537-40 pubmed
    ..class of mutations, sapje (sap), results from mutations within the zebrafish orthologue of the human Duchenne muscular dystrophy (DMD) gene...
  13. Sztal T, Sonntag C, Hall T, Currie P. Epistatic dissection of laminin-receptor interactions in dystrophic zebrafish muscle. Hum Mol Genet. 2012;21:4718-31 pubmed publisher
    ..Collectively these findings provide a better understanding of the cellular pathology of MDC1A and help in designing effective therapies. ..
  14. Winder S, Lipscomb L, Angela Parkin C, Juusola M. The proteasomal inhibitor MG132 prevents muscular dystrophy in zebrafish. PLoS Curr. 2011;3:RRN1286 pubmed publisher
    Using sapje zebrafish which lack dystrophin, we have assessed both the quantitation of muscle damage in dystrophic fish, and the efficacy of the proteasomal inhibitor MG132 in reducing the dystrophic symptoms...
  15. Dodd A, Chambers S, Love D. Short interfering RNA-mediated gene targeting in the zebrafish. FEBS Lett. 2004;561:89-93 pubmed
    ..Here we report the use of siRNAs for targeting the zebrafish dystrophin gene...
  16. VÃ¥gberg W, Larsson D, Li M, Arner A, Hertz H. X-ray phase-contrast tomography for high-spatial-resolution zebrafish muscle imaging. Sci Rep. 2015;5:16625 pubmed publisher
    ..while specimen with a dystrophin deficiency (sapje) displays an unstructured pattern, typical of Duchenne muscular dystrophy. The method opens up for whole-body imaging with sub-cellular detail also of other types of soft tissue ..
  17. Jin H, Tan S, Hermanowski J, B hm S, Pacheco S, McCauley J, et al. The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms. BMC Genomics. 2007;8:19 pubmed publisher
    ..have been discovered in a relatively serendipitous way; we set out to compile a comprehensive description of dystrophin- and dystrobrevin-related sequences from available metazoan genome sequences, validated in representative ..
  18. Berger J, Tarakci H, Berger S, Li M, Hall T, Arner A, et al. Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy. Dis Model Mech. 2014;7:1407-15 pubmed publisher
  19. Lin Y, White R, Torelli S, Cirak S, Muntoni F, Stemple D. Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Hum Mol Genet. 2011;20:1763-75 pubmed publisher
    ..Together, our results suggest that Fukutin family proteins may play important roles in protein secretion and that the UPR may contribute to the phenotypic spectrum of some dystroglycanopathies in humans...
  20. Webb S, Cheung C, Chan C, Love D, Miller A. Application of complementary luminescent and fluorescent imaging techniques to visualize nuclear and cytoplasmic Ca²? signalling during the in vivo differentiation of slow muscle cells in zebrafish embryos under normal and dystrophic conditions. Clin Exp Pharmacol Physiol. 2012;39:78-86 pubmed publisher
    ..4. Here, we show that coincidental with the SP1 Ca²? signals, dystrophin becomes localized to the vertical myoseptae of the myotome...
  21. Kishi S, Bayliss P, Uchiyama J, Koshimizu E, Qi J, Nanjappa P, et al. The identification of zebrafish mutants showing alterations in senescence-associated biomarkers. PLoS Genet. 2008;4:e1000152 pubmed publisher
    ..Our current strategy of mutant screening for a senescence-associated biomarker in zebrafish embryos may thus prove to be a useful new tool for the genetic dissection of vertebrate stress response and senescence mechanisms. ..
  22. Lai D, Lan C, Leong I, Love D. Zebrafish dystrophin and utrophin genes: dissecting transcriptional expression during embryonic development. Int J Mol Med. 2012;29:338-48 pubmed publisher
    ..a preliminary analysis of the developmental expression profile of selected transcripts of the dystrophin and utrophin genes of the zebrafish (Danio rerio) by targeting unique and common regions of each of ..
  23. Cao J, Li S, Shao M, Cheng X, Xu Z, Shi D. The PDZ-containing unconventional myosin XVIIIA regulates embryonic muscle integrity in zebrafish. J Genet Genomics. 2014;41:417-28 pubmed publisher
    ..the MYO18A PDZ domain disrupts myofiber integrity, induces myofiber lesions, and compromises the localization of dystrophin, α-dystroglycan (α-DG) and laminin at the myotome boundaries...
  24. Yin L, Maddison L, Li M, Kara N, LaFave M, Varshney G, et al. Multiplex Conditional Mutagenesis Using Transgenic Expression of Cas9 and sgRNAs. Genetics. 2015;200:431-41 pubmed publisher
    ..Our findings suggest that CRISPR/Cas9-based conditional mutagenesis in zebrafish is not only feasible but rapid and straightforward. ..
  25. Amali A, Lin C, Chen Y, Wang W, Gong H, Rekha R, et al. Overexpression of Myostatin2 in zebrafish reduces the expression of dystrophin associated protein complex (DAPC) which leads to muscle dystrophy. J Biomed Sci. 2008;15:595-604 pubmed publisher
    ..The RT-PCR and in situ hybridization showed concurrent reduction of dystrophin associated protein complex (DAPC)...
  26. Vieira N, Spinazzola J, Alexander M, Moreira Y, Kawahara G, Gibbs D, et al. Repression of phosphatidylinositol transfer protein ? ameliorates the pathology of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2017;114:6080-6085 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by X-linked inherited mutations in the DYSTROPHIN (DMD) gene...
  27. Smith S, Wang J, Gupta V, Dowling J. A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy. PLoS ONE. 2017;12:e0172648 pubmed publisher
    ..We uncovered and characterize abnormalities in spontaneous coiling, the earliest motor movement in the zebrafish, as a fully penetrant change specific to caf mutants that is ideal for future drug testing. ..
  28. Ruf Zamojski F, Trivedi V, Fraser S, Trinh L. Spatio-Temporal Differences in Dystrophin Dynamics at mRNA and Protein Levels Revealed by a Novel FlipTrap Line. PLoS ONE. 2015;10:e0128944 pubmed publisher
    b>Dystrophin (Dmd) is a structural protein that links the extracellular matrix to actin filaments in muscle fibers and is required for the maintenance of muscles integrity...
  29. Rapkins R, Hore T, Smithwick M, Ager E, Pask A, Renfree M, et al. Recent assembly of an imprinted domain from non-imprinted components. PLoS Genet. 2006;2:e182 pubmed publisher
    ..Thus, the evolution of imprinting in viviparous mammals is ongoing...
  30. Waugh T, Horstick E, Hur J, Jackson S, Davidson A, Li X, et al. Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy. Hum Mol Genet. 2014;23:4651-62 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is a common and relentlessly progressive muscle disease. Some interventions have been identified that modestly slow progression and prolong survival, but more meaningful therapies are lacking...
  31. Böhm S, Jin H, Hughes S, Roberts R, Hinits Y. Dystrobrevin and dystrophin family gene expression in zebrafish. Gene Expr Patterns. 2008;8:71-8 pubmed
    b>Dystrophin/dystrobrevin superfamily proteins play structural and signalling roles at the plasma membrane of many cell types. Defects in them or the associated multiprotein complex cause a range of neuromuscular disorders...
  32. Widrick J, Alexander M, Sanchez B, Gibbs D, Kawahara G, Beggs A, et al. Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiol Genomics. 2016;48:850-860 pubmed publisher
    i>Sapje zebrafish lack the protein dystrophin and are the smallest vertebrate model of Duchenne muscular dystrophy (DMD). Their small size makes them ideal for large-scale drug discovery screens...
  33. Yogev O, Williams V, Hinits Y, Hughes S. eIF4EBP3L acts as a gatekeeper of TORC1 in activity-dependent muscle growth by specifically regulating Mef2ca translational initiation. PLoS Biol. 2013;11:e1001679 pubmed publisher
    ..We suggest that by selectively inhibiting translational initiation of mef2ca and other mRNAs, eIF4EBP3L reprograms the translational profile of muscle, enabling it to adjust to new environmental conditions. ..
  34. van t Padje S, Chaudhry B, Severijnen L, van der Linde H, Mientjes E, Oostra B, et al. Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish. J Exp Biol. 2009;212:2564-70 pubmed publisher
    ..This cardiac phenotype has not been previously described and suggests that fxr1 is essential for normal cardiac form and function. ..
  35. Cerda G, Hargrave M, Lewis K. RNA profiling of FAC-sorted neurons from the developing zebrafish spinal cord. Dev Dyn. 2009;238:150-61 pubmed publisher
    ..This protocol for dissociating, sorting and RNA-profiling neurons from organogenesis-stage zebrafish embryos should also be applicable to other developing organs and tissues and potentially other model organisms. ..
  36. Charvet B, Guiraud A, Malbouyres M, Zwolanek D, Guillon E, Bretaud S, et al. Knockdown of col22a1 gene in zebrafish induces a muscular dystrophy by disruption of the myotendinous junction. Development. 2013;140:4602-13 pubmed publisher
    ..Our findings indicate that COLXXII contributes to the stabilization of myotendinous junctions and strengthens skeletal muscle attachments during contractile activity...
  37. Vieira N, Elvers I, Alexander M, Moreira Y, Eran A, Gomes J, et al. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 2015;163:1204-1213 pubmed publisher
    b>Duchenne muscular dystrophy (DMD), caused by mutations at the dystrophin gene, is the most common form of muscular dystrophy...
  38. Lipscomb L, Piggott R, Emmerson T, Winder S. Dasatinib as a treatment for Duchenne muscular dystrophy. Hum Mol Genet. 2016;25:266-74 pubmed publisher
    Identification of a systemically acting and universal small molecule therapy for Duchenne muscular dystrophy would be an enormous advance for this condition...
  39. Johnson N, Farr G, Maves L. The HDAC Inhibitor TSA Ameliorates a Zebrafish Model of Duchenne Muscular Dystrophy. PLoS Curr. 2013;5: pubmed publisher
    Zebrafish are an excellent model for Duchenne muscular dystrophy. In particular, zebrafish provide a system for rapid, easy, and low-cost screening of small molecules that can ameliorate muscle damage in dystrophic larvae...
  40. Jurynec M, Xia R, Mackrill J, Gunther D, Crawford T, Flanigan K, et al. Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. Proc Natl Acad Sci U S A. 2008;105:12485-90 pubmed publisher
  41. Smith S, Horstick E, Davidson A, Dowling J. Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye. J Vis Exp. 2015;: pubmed publisher
    ..In addition, we demonstrate a co-injection strategy to increase efficacy of EBD analysis. Overall, this video article provides an outline to perform EBD injection and characterization in zebrafish models of neuromuscular disease. ..