dystrophin

Summary

Gene Symbol: dystrophin
Description: dystrophin
Alias: BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, dystrophin
Species: human
Products:     dystrophin

Top Publications

  1. Brenman J, Chao D, Xia H, Aldape K, Bredt D. Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell. 1995;82:743-52 pubmed
    ..We show that nNOS partitions with skeletal muscle membranes owing to association of nNOS with dystrophin, the protein mutated in Duchenne muscular dystrophy (DMD)...
  2. Sherman D, Fabrizi C, Gillespie C, Brophy P. Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron. 2001;30:677-87 pubmed
    Dystroglycan-dystrophin complexes are believed to have structural and signaling functions by linking extracellular matrix proteins to the cytoskeleton and cortical signaling molecules...
  3. Haenggi T, Fritschy J. Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue. Cell Mol Life Sci. 2006;63:1614-31 pubmed
    The dystrophin glycoprotein complex (DGC) is a multimeric protein assembly associated with either the X-linked cytoskeletal protein dystrophin or its autosomal homologue utrophin...
  4. Sahni N, Mangat K, Le Rumeur E, Menhart N. Exon edited dystrophin rods in the hinge 3 region. Biochim Biophys Acta. 2012;1824:1080-9 pubmed publisher
    ..of envisioned exon skipping therapy by antisense oligonucleotides, AONs, directed at exon 51 applied to relevant dystrophin defects causing Duchenne muscular dystrophy, DMD...
  5. Huang X, Poy F, Zhang R, Joachimiak A, Sudol M, Eck M. Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan. Nat Struct Biol. 2000;7:634-8 pubmed
    b>Dystrophin and beta-dystroglycan are components of the dystrophin-glycoprotein complex (DGC), a multimolecular assembly that spans the cell membrane and links the actin cytoskeleton to the extracellular basal lamina...
  6. Costa M, Oliveira A, Feitosa Santana C, Zatz M, Ventura D. Red-green color vision impairment in Duchenne muscular dystrophy. Am J Hum Genet. 2007;80:1064-75 pubmed
    ..Patients were divided into two groups according to the region of deletion in the dystrophin gene: upstream of exon 30 (n=12) and downstream of exon 30 (n=32)...
  7. Blake D, Nawrotzki R, Loh N, Gorecki D, Davies K. beta-dystrobrevin, a member of the dystrophin-related protein family. Proc Natl Acad Sci U S A. 1998;95:241-6 pubmed
    The importance of dystrophin and its associated proteins in normal muscle function is now well established. Many of these proteins are expressed in nonmuscle tissues, particularly the brain...
  8. Blake D, Weir A, Newey S, Davies K. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev. 2002;82:291-329 pubmed
    The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations in the gene encoding dystrophin. There is currently no effective treatment for the disease; however, the complex molecular pathology of this disorder ..
  9. Fernandez K, Serinagaoglu Y, Hammond S, Martin L, Martin P. Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts. Am J Pathol. 2010;176:416-34 pubmed publisher
    Altered expression of proteins in the dystrophin-associated glycoprotein complex results in muscular dystrophy and has more recently been implicated in a number of forms of cancer...

More Information

Publications95

  1. Muntoni F, Wilson L, Marrosu G, Marrosu M, Cianchetti C, Mestroni L, et al. A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest. 1995;96:693-9 pubmed
    We have previously shown in a large X-linked pedigree that a deletion removing the dystrophin muscle promoter, the first muscle exon and part of intron 1 caused a severe dilated cardiomyopathy with no associated muscle weakness...
  2. Flanigan K, von Niederhausern A, Dunn D, Alder J, Mendell J, Weiss R. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet. 2003;72:931-9 pubmed
    Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophy (DMD and BMD), as well as X-linked dilated cardiomyopathy...
  3. Wang X, Wang Z, Yan M, Huang S, Chen T, Zhong N. Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations. Behav Brain Funct. 2008;4:20 pubmed publisher
    ..were determined as the major mutation underlying Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)...
  4. Singh S, Kongari N, Cabello Villegas J, Mallela K. Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates. Proc Natl Acad Sci U S A. 2010;107:15069-74 pubmed publisher
    A deficiency of functional dystrophin protein in muscle cells causes muscular dystrophy (MD). More than 50% of missense mutations that trigger the disease occur in the N-terminal actin binding domain (N-ABD or ABD1)...
  5. Bastianutto C, Bestard J, Lahnakoski K, Broere D, de Visser M, Zaccolo M, et al. Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. Hum Mol Genet. 2001;10:2627-35 pubmed
    ..Several XLDC patients have been described with mutations that abolish dystrophin muscle (M) isoform expression...
  6. Wilton S, Chandler D, Kakulas B, Laing N. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. Hum Mutat. 1994;3:133-40 pubmed
    ..4 Mb) dystrophin gene at Xp21...
  7. Ortiz Lopez R, Li H, Su J, Goytia V, Towbin J. Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation. 1997;95:2434-40 pubmed
    X-linked dilated cardiomyopathy (XLCM) has previously been shown to be due to mutations in the dystrophin gene, which is located at Xp21...
  8. Bhosle R, Michele D, Campbell K, Li Z, Robson R. Interactions of intermediate filament protein synemin with dystrophin and utrophin. Biochem Biophys Res Commun. 2006;346:768-77 pubmed
    ..We show herein that tissue-purified avian synemin directly interacts with both dystrophin and utrophin, and that specific expressed regions of both of the mammalian (human) synemin isoforms (alpha-..
  9. Gurvich O, Tuohy T, Howard M, Finkel R, Medne L, Anderson C, et al. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Ann Neurol. 2008;63:81-9 pubmed
    ..diseases Duchenne (DMD) and Becker muscular dystrophy result from mutations in the DMD gene, which encodes the dystrophin protein...
  10. Austin R, Howard P, D Souza V, Klamut H, Ray P. Cloning and characterization of alternatively spliced isoforms of Dp71. Hum Mol Genet. 1995;4:1475-83 pubmed
    Dp71, a C-terminal isoform of dystrophin, has been identified as the major DMD gene product in many nonmuscle tissues...
  11. Greener M, Sewry C, Muntoni F, Roberts R. The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss. Eur J Hum Genet. 2002;10:413-20 pubmed
    The 3'-untranslated region (3'UTR) of some vertebrate dystrophin genes shows an extraordinary degree and extent of conservation (better than that of many coding regions), a phenomenon that remains unexplained...
  12. Kaspar R, Allen H, Ray W, Alvarez C, Kissel J, Pestronk A, et al. Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. Circ Cardiovasc Genet. 2009;2:544-51 pubmed publisher
    Becker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy often result from deletion mutations in the dystrophin gene that may lead to expression of an altered dystrophin protein in cardiac muscle...
  13. Blake D, Hawkes R, Benson M, Beesley P. Different dystrophin-like complexes are expressed in neurons and glia. J Cell Biol. 1999;147:645-58 pubmed
    ..Accordingly, dystrophin is found at the muscle sarcolemma and at postsynaptic sites in neurons...
  14. Mirza A, Menhart N. Stability of dystrophin STR fragments in relation to junction helicity. Biochim Biophys Acta. 2008;1784:1301-9 pubmed publisher
    b>Dystrophin is a rod shaped protein consisting of amino- and carboxy-terminal binding domains linked by a large central rod composed of 24 homologous copies of the STR motif and 4 non-homologous regions termed hinges...
  15. Tran V, Zhang Z, Yagi M, Nishiyama A, Habara Y, Takeshima Y, et al. A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene. J Hum Genet. 2005;50:425-33 pubmed
    The dystrophin gene, which is mutated in Duchenne muscular dystrophy (DMD), is the largest known human gene and is characterized by the huge size of its introns...
  16. Roberts R, Bobrow M, Bentley D. Point mutations in the dystrophin gene. Proc Natl Acad Sci U S A. 1992;89:2331-5 pubmed
    ..of Duchenne muscular dystrophy patients remain unknown as they do not involve gross rearrangements of the dystrophin gene. The size and complexity of the gene have prohibited the systematic definition of point mutations...
  17. Boyce F, Beggs A, Feener C, Kunkel L. Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A. 1991;88:1276-80 pubmed
    b>Dystrophin, the protein product of the Duchenne muscular dystrophy gene, is expressed in brain as well as muscle...
  18. Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, et al. Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med. 1993;329:921-5 pubmed
  19. Yang B, Jung D, Rafael J, Chamberlain J, Campbell K. Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin. J Biol Chem. 1995;270:4975-8 pubmed
    Syntrophin represents three cytoplasmic components of the dystrophin-glycoprotein complex that links the cytoskeleton to the extracellular matrix in skeletal muscle...
  20. Flanigan K, Dunn D, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard M, et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat. 2009;30:1657-66 pubmed publisher
    Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC)...
  21. Magri F, Govoni A, D Angelo M, Del Bo R, Ghezzi S, Sandra G, et al. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol. 2011;258:1610-23 pubmed publisher
    ..presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. Diagnosis is based on clinical aspects and muscle protein analysis, followed by molecular confirmation...
  22. Oshima J, Magner D, Lee J, Breman A, Schmitt E, White L, et al. Regional genomic instability predisposes to complex dystrophin gene rearrangements. Hum Genet. 2009;126:411-23 pubmed publisher
    Mutations in the dystrophin gene (DMD) cause Duchenne and Becker muscular dystrophies and the majority of cases are due to DMD gene rearrangements...
  23. Legardinier S, Legrand B, Raguénès Nicol C, Bondon A, Hardy S, Tascon C, et al. A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin. J Biol Chem. 2009;284:8822-32 pubmed publisher
    Lack of functional dystrophin causes severe Duchenne muscular dystrophy...
  24. Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, et al. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics. 2008;9:572 pubmed publisher
    ..2 Mb DMD gene. We studied 12 DMD/BMD patients who either had no detectable mutations or carried previously identified quantitative pathogenic changes in ..
  25. Neri M, Torelli S, Brown S, Ugo I, Sabatelli P, Merlini L, et al. Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord. 2007;17:913-8 pubmed
    Mutations in the dystrophin gene give rise to Duchenne and Becker muscular dystrophies (DMD and BMD), in which both skeletal and cardiac muscles are affected, but also to X-linked dilated cardiomyopathy (XLDC), a condition characterised ..
  26. Tuffery S, Lenk U, Roberts R, Coubes C, Demaille J, Claustres M. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mutat. 1995;6:126-35 pubmed
    ..of the mutations responsible for Duchenne muscular dytrophy (DMD) do not involve gross rearrangements of the dystrophin gene...
  27. Adams M, Mueller H, Froehner S. In vivo requirement of the alpha-syntrophin PDZ domain for the sarcolemmal localization of nNOS and aquaporin-4. J Cell Biol. 2001;155:113-22 pubmed
    ..The COOH-terminal half of alpha-syntrophin binds to dystrophin and related proteins, leaving the PSD-95, discs-large, ZO-1 (PDZ) domain free to recruit other proteins to the ..
  28. Prior T, Papp A, Snyder P, Burghes A, Bartolo C, Sedra M, et al. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat Genet. 1993;4:357-60 pubmed
    ..We now describe what we believe to be the first dystrophin missense mutation in a DMD patient...
  29. Nishio H, Takeshima Y, Narita N, Yanagawa H, Suzuki Y, Ishikawa Y, et al. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter. J Clin Invest. 1994;94:1037-42 pubmed
    The dystrophin gene, which is mutated in patients with Duchenne and Becker muscular dystrophies, is the largest known human gene. Five alternative promoters have been characterized until now...
  30. Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, et al. Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet. 2009;18:3779-94 pubmed publisher
    ..muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) bearing mutations predicted to affect either all dystrophin products, including Dp71 or all dystrophin products, except Dp71...
  31. Kilimann M, Pizzuti A, Grompe M, Caskey C. Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR. Hum Genet. 1992;89:253-8 pubmed
    About one third of Duchenne muscular dystrophy (DMD) patients have no gross DNA rearrangements in the dystrophin gene detectable by Southern blot analysis or multiplex exon amplification...
  32. Chelly J, Gilgenkrantz H, Lambert M, Hamard G, Chafey P, Recan D, et al. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell. 1990;63:1239-48 pubmed
    Muscle dystrophin mRNAs from Duchenne (DMD) and Becker (BMD) patients with internal deletion of the DMD gene were quantitated and sequenced...
  33. Flanigan K, Dunn D, von Niederhausern A, Howard M, Mendell J, Connolly A, et al. DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Neuromuscul Disord. 2009;19:743-8 pubmed publisher
    ..The discovery of the first DMD founder mutation, associated with a mild Becker phenotype, suggests that the prevalence of hypomorphic dystrophin mutations should be re-examined with the use of improved genomic analysis.
  34. Koenig M, Hoffman E, Bertelson C, Monaco A, Feener C, Kunkel L. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987;50:509-17 pubmed
    ..The majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript. ..
  35. Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei S, et al. Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. J Biol Chem. 2000;275:15851-60 pubmed
    b>Dystrophin is the scaffold of a protein complex, disrupted in inherited muscular dystrophies. At the last 3' terminus of the gene, a protein domain is encoded, where syntrophins are tightly bound...
  36. Beroud C, Carrie A, Beldjord C, Deburgrave N, Llense S, Carelle N, et al. Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Neuromuscul Disord. 2004;14:10-8 pubmed
    In the course of a mutation search performed by muscle dystrophin transcript analysis in 72 Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene defect, we encountered four unrelated cases with additional out-of-..
  37. Lidov H, Selig S, Kunkel L. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet. 1995;4:329-35 pubmed
    We have identified a 7.5 kb transcript from the dystrophin locus which encodes a novel 140 kDa protein (Dp140)...
  38. Nawrotzki R, Loh N, Ruegg M, Davies K, Blake D. Characterisation of alpha-dystrobrevin in muscle. J Cell Sci. 1998;111 ( Pt 17):2595-605 pubmed
    b>Dystrophin-related and associated proteins are important for the formation and maintenance of the mammalian neuromuscular junction...
  39. Nigro V, Nigro G, Esposito M, Comi L, Molinari A, Puca G, et al. Novel small mutations along the DMD/BMD gene associated with different phenotypes. Hum Mol Genet. 1994;3:1907-8 pubmed
  40. Wu Y, Yin G, Fu K, Wu D, Zhai Q, Du H, et al. Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them. J Clin Lab Anal. 2009;23:380-6 pubmed publisher
    ..DMD-1, DMD-2, DMD-4, DMD-8, and DMD-9) with DMD/BMD were found to have several hemizygous exon deletions in the dystrophin gene. The other patients and the fetus did not have any hemizygous deletion or duplication of any exons...
  41. Jung D, Yang B, Meyer J, Chamberlain J, Campbell K. Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. J Biol Chem. 1995;270:27305-10 pubmed
    b>Dystrophin, the product of the Duchenne muscular dystrophy gene, is tightly associated with the sarcolemmal membrane to a large glycoprotein complex...
  42. Ginjaar I, Kneppers A, v d Meulen J, Anderson L, Bremmer Bout M, van Deutekom J, et al. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. Eur J Hum Genet. 2000;8:793-6 pubmed
    ..In the muscle biopsy specimen of patient2 one out of four antibodies (NCL-DYS1) showed absence of dystrophin. The protein truncation test detected a truncated dystrophin for both muscle tissue and lymphocytes of this ..
  43. Aartsma Rus A, Bremmer Bout M, Janson A, den Dunnen J, van Ommen G, van Deutekom J. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord. 2002;12 Suppl 1:S71-7 pubmed
    ..dystrophy is primarily caused by frame-disrupting mutations in the Duchenne muscular dystrophy gene which abort dystrophin synthesis...
  44. Eraslan S, Kayserili H, Apak M, Kirdar B. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA). Eur J Hum Genet. 1999;7:765-70 pubmed
    ..The identification of point mutations in the dystrophin gene is considered to be very important, because it may provide new insights into the function of dystrophin and ..
  45. Laing N, Layton M, Johnsen R, Chandler D, Mears M, Goldblatt J, et al. Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?. Am J Med Genet. 1992;42:688-92 pubmed
    We report on a kindred segregating 2 distinct mutations of a dystrophin gene...
  46. Singh S, Mallela K. The N-terminal actin-binding tandem calponin-homology (CH) domain of dystrophin is in a closed conformation in solution and when bound to F-actin. Biophys J. 2012;103:1970-8 pubmed publisher
    Deficiency of the vital muscle protein dystrophin triggers Duchenne/Becker muscular dystrophy, but the structure-function relationship of dystrophin is poorly understood...
  47. D Souza V, Nguyen T, Morris G, Karges W, Pillers D, Ray P. A novel dystrophin isoform is required for normal retinal electrophysiology. Hum Mol Genet. 1995;4:837-42 pubmed
    b>Dystrophin is present in the outer plexiform layer of the retina and is required for normal retinal function as measured by electroretinography...
  48. Milasin J, Muntoni F, Severini G, Bartoloni L, Vatta M, Krajinovic M, et al. A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet. 1996;5:73-9 pubmed
    ..This condition has recently been linked to the dystrophin gene in some families and deletions encompassing the genomic region coding for the first muscle exon have been ..
  49. Lai P, Takeshima Y, Adachi K, Van Tran K, Nguyen H, Low P, et al. Comparative study on deletions of the dystrophin gene in three Asian populations. J Hum Genet. 2002;47:552-5 pubmed
    ..of deletions of 19 deletion-prone exons clustered in two hot spots in the proximal and central regions of the dystrophin gene were compared in three populations from Singaporean, Japan, and Vietnam...
  50. Pozzoli U, Sironi M, Cagliani R, Comi G, Bardoni A, Bresolin N. Comparative analysis of the human dystrophin and utrophin gene structures. Genetics. 2002;160:793-8 pubmed
    ..Out-of-frame rod-domain exons have stronger splice sites and are separated by significantly longer introns as compared to in-frame exons. These features are unique for the two homologs and not shared by other spectrin superfamily genes. ..
  51. Bulman D, Gangopadhyay S, Bebchuck K, Worton R, Ray P. Point mutation in the human dystrophin gene: identification through western blot analysis. Genomics. 1991;10:457-60 pubmed
    Using antibodies directed against the amino-terminus of dystrophin, we identified a truncated protein in a Duchenne muscular dystrophy patient...
  52. Tadayoni R, Rendon A, Soria Jasso L, Cisneros B. Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene. Mol Neurobiol. 2012;45:43-60 pubmed publisher
    b>Dystrophin Dp71 is expressed in all tissues, with the exception of skeletal muscle, and is the main Duchenne muscular dystrophy (DMD) gene product in brain...
  53. Taylor P, Betts G, Maroulis S, Gilissen C, Pedersen R, Mowat D, et al. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS ONE. 2010;5:e8803 pubmed publisher
    ..In this study we report correlations between standardised measures of intelligence and mutational class, mutation size, mutation location and the involvement of dystrophin isoforms.
  54. Hwa H, Chang Y, Huang C, Chen C, Kao Y, Jong Y, et al. Small mutations of the DMD gene in Taiwanese families. J Formos Med Assoc. 2008;107:463-9 pubmed publisher
    ..led to a predictable premature stop codon or resulted in splicing defects, which caused defective function of dystrophin. Our findings extend the mutation spectrum of the DMD gene...
  55. Mukherjee M, Chaturvedi L, Srivastava S, Mittal R, Mittal B. De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases. Exp Mol Med. 2003;35:113-7 pubmed
    ..The loss of heterozygosity of polymorphic dinucleotide loci at "deletional hotspot" of dystrophin gene can provide direct evidence of carrier status in female relatives of affected DMD patients with overlapped ..
  56. Roberts R, Gardner R, Bobrow M. Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mutat. 1994;4:1-11 pubmed
    The past few years have seen a rapid increase in our knowledge of naturally occurring mutations in the dystrophin gene...
  57. Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics. 2005;6:29-35 pubmed
    ..and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene...
  58. Austin R, Fox J, Werstuck G, Stafford A, Bulman D, Dally G, et al. Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesion. J Biol Chem. 2002;277:47106-13 pubmed
    ..F., Zuerbig, S., and Fox, J. E. B. (1995) J. Biol. Chem. 270, 27259-27265). Although platelets do not contain dystrophin, the identification of smaller C-terminal isoforms of dystrophin, including Dp71, which are expressed in a wide ..
  59. Muntoni F, Melis M, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 1995;56:151-7 pubmed
    We recently described a family where a deletion of the dystrophin gene was associated with a severe dilated cardiomyopathy without skeletal muscle weakness...
  60. Tran V, Ta V, Vu D, Nguyen S, Do H, Ta M, et al. Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients. J Neurogenet. 2013;27:170-5 pubmed publisher
    ..Becker muscular dystrophies (DMD/BMD) are the most common inherited muscle diseases caused by mutations in the dystrophin gene. The reading frame rule explains the genotype-phenotype relationship in DMD/BMD...
  61. Ankala A, Kohn J, Hegde A, Meka A, Ephrem C, Askree S, et al. Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene. Genome Res. 2012;22:25-34 pubmed publisher
  62. Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, et al. Transcriptional behavior of DMD gene duplications in DMD/BMD males. Hum Mutat. 2009;30:E310-9 pubmed publisher
    DMD gene exons duplications account for up to 5-10 % of Duchenne (DMD) and up to 5-19% of Becker (BMD) muscular dystrophies; as for the more common deletions, the genotype-phenotype correlation and the genetic prognosis are generally ..
  63. Gurvich O, Maiti B, Weiss R, Aggarwal G, Howard M, Flanigan K. DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. Hum Mutat. 2009;30:633-40 pubmed publisher
    ..within the first exon of the DMD gene, encoding the unique N-terminus of the 427-kDa muscle isoform of the dystrophin protein...
  64. Ahn A, Kunkel L. Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol. 1995;128:363-71 pubmed
    b>Dystrophin, the protein product of the Duchenne muscular dystrophy locus, is a protein of the membrane cytoskeleton that associates with a complex of integral and membrane-associated proteins...
  65. Hoogerwaard E, Ginjaar I, Bakker E, de Visser M. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy. Neurology. 2005;65:1984-6 pubmed
    Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated...
  66. Hogan A, Shepherd L, Chabot J, Quenneville S, Prescott S, Topham M, et al. Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions. J Biol Chem. 2001;276:26526-33 pubmed
    Syntrophins are modular adapter proteins that link ion channels and signaling proteins to dystrophin and its homologues...
  67. Peters M, O Brien K, Sadoulet Puccio H, Kunkel L, Adams M, Froehner S. beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. J Biol Chem. 1997;272:31561-9 pubmed
    b>Dystrophin, the protein disrupted in Duchenne muscular dystrophy, is one of several related proteins that are key components of the submembrane cytoskeleton...
  68. Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, et al. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest. 1997;100:2204-10 pubmed
    ..mutation (E1211X) due to a G to T transversion at the 28th nucleotide of exon 27 (G3839T) was identified in the dystrophin gene of a Japanese Becker muscular dystrophy case...
  69. Chamberlain J, Gibbs R, Ranier J, Nguyen P, Caskey C. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988;16:11141-56 pubmed
    ..We demonstrate the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD. ..
  70. Byers T, Lidov H, Kunkel L. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet. 1993;4:77-81 pubmed
    Transcription of the 2.5 megabase dystrophin gene gives rise to multiple isoforms. We describe a 5...
  71. Lidov H, Kunkel L. Dp140: alternatively spliced isoforms in brain and kidney. Genomics. 1997;45:132-9 pubmed
    Dp140, a protein composed of the distal rod domain and carboxy-terminal domain of dystrophin, is expressed only in brain and kidney; transcription is initiated at a unique first exon located in dystrophin intron 44...
  72. Norwood F, Sutherland Smith A, Keep N, Kendrick Jones J. The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy. Structure. 2000;8:481-91 pubmed
    b>Dystrophin is an essential component of skeletal muscle cells. Its N-terminal domain binds to F-actin and its C terminus binds to the dystrophin-associated glycoprotein (DAG) complex in the membrane...
  73. Soltanzadeh P, Friez M, Dunn D, von Niederhausern A, Gurvich O, Swoboda K, et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010;20:499-504 pubmed publisher
    ..Our results demonstrate that improved molecular diagnostic methods facilitate the identification of DMD mutations in manifesting carriers, and confirm the heterogeneity of mutational mechanisms as well as the wide spectrum of phenotypes...
  74. Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet. 2010;55:379-88 pubmed publisher
    ..Remarkably, two retrotransposon insertion events were also identified. Dystrophin cDNA analysis successfully revealed novel transcripts with a pseudoexon created by a single-nucleotide change ..
  75. Sadeghi A, Doyle A, Johnson B. Regulation of the cardiac L-type Ca2+ channel by the actin-binding proteins alpha-actinin and dystrophin. Am J Physiol Cell Physiol. 2002;282:C1502-11 pubmed
    The actin-binding proteins dystrophin and alpha-actinin are members of a family of actin-binding proteins that may link the cytoskeleton to membrane proteins such as ion channels...
  76. El Harouni A, Amr K, Effat L, Eassawi M, Ismail S, Gad Y, et al. The milder phenotype of the dystrophin gene double deletions. Acta Neurol Scand. 2003;107:400-4 pubmed
    ..to neurological examination including functional disability grading scale (FDGS), molecular analysis of the dystrophin gene and immunohistochemical studies of some muscle biopsies...
  77. White S, Aartsma Rus A, Flanigan K, Weiss R, Kneppers A, Lalic T, et al. Duplications in the DMD gene. Hum Mutat. 2006;27:938-45 pubmed
    The detection of duplications in Duchenne (DMD)/Becker Muscular Dystrophy (BMD) has long been a neglected issue. However, recent technological advancements have significantly simplified screening for such rearrangements...
  78. Cerna J, Cerecedo D, Ortega A, Garcia Sierra F, Centeno F, Garrido E, et al. Dystrophin Dp71f associates with the beta1-integrin adhesion complex to modulate PC12 cell adhesion. J Mol Biol. 2006;362:954-65 pubmed
    b>Dystrophin Dp71 is the main product of the Duchenne muscular dystrophy gene in the brain; however, its function is unknown...
  79. Acsadi G, Moore S, Chéron A, Delalande O, Bennett L, Kupsky W, et al. Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy. J Biol Chem. 2012;287:18153-62 pubmed publisher
    Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish...