Dystrophin and its isoforms

Brain Pathology

Volumn 6, Issue 1, 1996, Pages 25-35

  Sadoulet Puccio, Hélène M ^a   Kunkel, Louis M ^a,b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

ANIMAL TISSUE; BECKER MUSCULAR DYSTROPHY; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN TISSUE; MOUSE; NONHUMAN; REVIEW;

EID: 0029936606     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1996.tb00780.x     Document Type: Review

References (102)

1. Adams ME, Butler MH, Dwyer TM, Peters MF, Murnane AA, Froehner SC (1993) Two forms of mouse syntrophin, a 58 kD dystrophin-associated protein, differ in primary structure and tissue distribution. Neuron 11: 531-540
2. Ahn AH, Kunkel LM (1995) Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol 128; 363-71
3. Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM (1994) Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome. 8q23-24 Proc Natl Acad Sci USA 91: 4446-50
4. André B, Springael JY (1994) WWP, a new amino acid motif present in single or multiple copies in various proteins including dystrophin and the SH3-binding Yes-associated protein YAP65 Biochem Biophys Res Commun 205 1201-1205
5. Arahata K, Ishiura S, Ishiguro T, Tsukahara T, Suhara Y, Eguchi C, Ishihara T, Nonaka I, Ozawa E, Sugita H (1988) Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 333: 861-863
6. Becker PE (1955) Eine neue X-chromosomeale muskeldystrophie Arch Psychiatr Z Neurol 193: 427-427
7. Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM (1991) Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies Am J Hum Genet 49. 54-67
8. Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86: 45-8
9. Bies RD, Phelps SF, Cortez MD, Roberts R, Caskey CT, Chamberlain JS (1992) Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development Nucleic Acids Research 20: 1725-31
10. Blake DJ, Love DR, Tinsley J, Morris G, Turley H, Gatter K, Dickson G, Edwards YH, Davies KE (1992) Charaterization of a 4 8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells. Hum Mol Genet 1, 103-109
11. Bonilla E, Samitt CE, Miranda AF, Hays AP, Salviati G, DiMauro S, Kunkel LM, Hoffman EP, Rowland LP (1988) Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 54 447-52
12. Bork P, Sudol M (1994) The WW domain: A signalling site in dystrophin? Trends Biochem Sci 19. 531-533
13. Boyce FM, Beggs AH, Feener C, Kunkel LM (1991) Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci USA 88: 1276-80
14. Bulman DE, Murphy EG, Zubrzycka-Gaarn EE, Worton RG, Ray PN (1991) Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin. Am J Hum Genet 48: 295-304
15. Burghes AH, Logan C, Hu X, Beifall B, Worton RG, Ray PN (1987) A cDNA clone from the Duchenne/Becker muscular dystrophy gene Nature 328: 434-437
16. Byers TJ, Kunkel LM, Watkins SC (1991) The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle J Cell Biol 115. 411-21
17. Byers TJ, Lidov HGW, Kunkel LM (1993) An alternative dystrophin transcript specific to peripheral nerve. Nature Genetics 4: 77-81
18. Chamberlain JS, Farwell NJ, Chamberlain JR, Cox GA, Caskey CT (1991) PCR analysis of dystrophin gene mutation and expression. J Cell Biochem 46: 255-9
19. Chelly J, Hamard G, Koulakoff A, Kaplan JC, Kahn A, Berwald-Netter Y (1990) Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature 344: 64-5
20. Coffey AJ, Roberts RG, Green ED, Cole CG, Butler R, Anand R, Giannelli F, Bentley DR (1992) Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach. Genomics 12: 474-84
21. Cohen CM, Tyler JM, Branton D (1980) Spectrin-actin associations studied by electron microscopy of shadowed preparations. Cell 21: 875-83
22. Corrado K, Mills PL, Chamberlain JS (1994) Deletion analysis of the dystrophin-actin binding domain. FEBS Letters 344: 255-60
23. Craig SW, Pardo JV (1983) Gamma actin, spectrin, and intermediate filament proteins colocalize with vinculin at costameres, myofibril-to-sarcolemma attachment sites. Cell Motility 3: 449-62
24. Cross RA, Stewart M, Kendrick-Jones J (1990) Structural predictions for the central domain of dystrophin. FEBS Letters 262: 87-92
25. D'Souza VN, Nguyen TM, Morris GE, Karges W, Pillers DA, Ray PN (1995) A novel dystrophin isoform is required for normal retinal electrophysiology. Hum Mol Genet 4: 837-42
26. Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Francke U (1988) Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BgIII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet 43 620-9
27. Davison MD, Critchley DR (1988) alpha-Actinins and the DMD protein contain spectrin-like repeats. Cell 52. 159-60
28. den Dunnen J, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van PH, van BC, Pearson PL, van Ommen GJ (1989) Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45: 835-47
29. Emery AEH (1987) Duchenne Muscular Dystrophy, 2, Oxford University Press: New York
30. Erdem H, Ayter S, Ozguc M, Topcu M, Topaloglu H, Renda Y (1993) Deletion analysis of Duchenne muscular dystrophy. Turk J Ped 35 15-21
31. Ervasti JM, Campbell KP (1993) Dystrophin and the membrane skeleton. [Review]. Curr Opin Cell Biol 5: 82-7
32. Fabbrizio E, Bonet-Kerrache A, Leger JJ, Mornet D (1993) Actin-dystrophin interface. Biochemistry 32: 10457-63
33. Feener CA, Koenig M, Kunkel LM (1989) Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature 338: 509-11
34. Forrest SM, Cross GS, Flint T, Speer A, Robson KJ, Davies KE (1988) Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 2: 109-114
35. Gillard EF, Chamberlain JS, Murphy EG, Duff CL, Smith B, Burghes AH, Thompson MW, Sutherland J, Oss I, Bodrug SE, Klamut HJ, Ray PN, Worton RG (1989) Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene Am J Hum Genet 45: 507-520
36. Górecki DC, Monaco AP, Derry JMJ, Walker AP, Barnard EA, Barnard PJ (1992) Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet 1: 505-510
37. Hagiwara Y, Nishio H, Kitoh Y, Takeshima Y, Narita N, Wada H, Yokoyama M, Nakamura H, Matsuo M (1994) A novel point mutation (G-1 to T) in a 5′ splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy. Am J Hum Genet 54: 53-61
38. Hammonds RJ (1987) Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin. Cell 51: 1
39. Hemmings L, Kuhlman PA, Critchley DR (1992) Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain. J Cell Biol 116: 1369-80
40. Hoffman EP, Brown RHJ, Kunkel LM (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51: 919-28
41. Hoffman EP, Fischbeck KH, Brown RHJ, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, al e (1988) Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318: 1363-8
42. Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB (1989) Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology 39: 1011-7
43. Hu XY, Ray PN, Murphy EG, Thompson MW, Worton RG (1990) Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am J Hum Genet 46, 682-695
44. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP (1992) Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355: 696-702
45. Jarrett HW, Foster JL (1995) Alternate binding of actin and calmodulin to multiple sites on dystrophin J Biol Chem 270. 5578-86
46. Kennedy SP, Weed SA, Forget BG, Morrow JS (1994) A partial structural repeat forms the heterodimer self-association site of all beta-spectrins. J Biol Chem 269: 11400-11408
47. Khurana TS, Hoffman EP, Kunkel LM (1990) Identification of a chromosome 6-encoded dystrophin-related protein J Biol Chem 265: 16717-20
48. Klamut HJ, Gangopadhyay SB, Worton RG, Ray PN (1990) Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene. Mol Cell Biol 10: 193-205
49. Klietsch R, Ervasti JM, Arnold W, Campbell KP, Jorgensen AO (1993) Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle. Circulat Res 72: 349-60
50. Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Muller CR, Lindlof M, Kaariainen H, de la Chapelle A, Kiuru A, Savontaus ML, Gilgenkrantz H, Recan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gallati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, van Ommen GJ, Kunkel LM (1989) The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion. Am J Hum Genet 45: 498-506
51. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-17
52. Koenig M, Kunkel LM (1990) Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem 265: 4560-6
53. Koenig M, Monaco AP, Kunkel LM (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53: 219-26
54. Le TT, Nguyen TM, Love DR, Helliwell TR, Davies KE, Morris GE (1993) Monoclonal antibodies against the muscle-specific N-terminus of dystrophin: characterization of dystrophin in a muscular dystrophy patient with a frameshift deletion of exons 3-7 Am J Hum Genet 53: 131-9
55. Lederfein D, Yaffe D, Nudel U (1993) 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. Hum Mol Genet 2: 1883-8
56. Lidov HG, Byers TJ, Watkins SC, Kunkel LM (1990) Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 348: 725-8
57. Lidov HGW, Selig S, Kunkel LM (1995) Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet 4: 329-335
58. Luise M, Presotto C, Senter L, Betto R, Ceoldo S, Furlan S, Salvatori S, Sabbadini RA, Salviati G (1993) Dystrophin is phosphorylated by endogenous protein kinases. Biochem J 293: 243-7
59. Luna EJ, Hitt AL (1992) Cytoskeleton-plasma interactions. Science 258: 955-964
60. Makover A, Zuk D, Breakstone J, Yaffe D, Nudel U (1991) Brain-type and muscle-type promoters of the dystrophin gene differ greatly in structure. Neuromusc Disord 1: 39-45
61. Meryon E (1852) On granular and fatty degeneration of the voluntary muscles. Med Chir Trans 35: 73-84
62. Miike T, Miyatake M, Zhao J, Yoshioka K, Uchino M (1989) Immunohistochemical dystrophin reaction in synaptic regions. Brain Develop 11: 344-6
63. Milner RE, Busaan J, Michalak M (1992) Isolation and characterization of different C-terminal fragments of dystrophin expressed in Escherichia coli. Biochem J 288: 1037-1044
64. Milner RE, Busaan JL, Holmes CFB, Wang JH, Michalak M (1993) Phosphorylation of dystrophin: the carboxyl-terminal region of dystrophin is a substrate for in vitro phosphorylation by p34cdc2 protein kinase. J Biol Chem 268: 21901-21905
65. Monaco AP, Bertelson CJ, Liechti GS, Moser H, Kunkel LM (1988) An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus Genomics 2: 90-95
66. Monaco AR, Neve RL, Colletti FC, Bertelson CJ, Kurnit DM, Kunkel LM (1986) Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323. 646-50
67. Monaco AP, Walker AP, Millwood I, Larin Z, Lehrach H (1992) A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene. Genomics 12: 465-73
68. Moncrief ND, Kretsinger RH, Goodman M (1990) Evolution of EF-hand calcium-modulated proteins. I. Relationships based on amino acid sequences J Mol Evol 30: 522-62
69. Morris GE, Nguyen C, Nguyen tM (1995) Specificity and VH sequence of two monoclonal antibodies against the N-terminus of dystrophin. Biochem J 309: 355-9
70. Morrow JS, Speicher DW, Knowles WJ, Hsu CJ, Marchesi VT (1980) Identification of functional domains of human erythrocyte spectrin. Proceed Natl Acad Sci USA 77: 6592-6
71. Nakayama S, Moncrief ND, Kretsinger RH (1992) Evolution of EF-hand calcium-modulated proteins. II. Domains of several subfamilies have diverse evolutionary histories J Mol Evol 34. 416-48
72. Nguyen TM, Ginjaar IB, van Ommen GJ, Morris GE (1992) Monoclonal antibodies for dystrophin analysis. Epitope mapping and improved binding to SDS-treated muscle sections. Biochem J 288: 663-8
73. North AJ, Galazkiewicz B, Byers TJ, Glenney JR, Small JV (1993) Complementary distributions of vinculin and dystrophin define two distinct sarcolemma domains in smooth muscle. J Cell Biol 120 (5): 1159-67
74. Nudel U, Zuk D, Einat P, Zeelon E, Levy Z, Neuman S, Yaffe D (1989) Duchenne muscular dystrophy gene product is not identical in muscle and brain Nature 337: 76-78
75. Pardo JV, Siliciano JD, Craig SW (1983) A vinculin-containing cortical lattice in skeletal muscle: transverse lattice elements ("costameres") mark sites of attachment between myofibrils and sarcolemma. Proceed Natl Acad Sci USA 80: 1008-12
76. Pons F, Augier N, Heilig R, L:eger J, Mornet D, L:eger JJ (1990) Isolated dystrophin molecules as seen by electron microscopy. Proceed Natl Acad Sci USA 87. 7851-5
77. Prior TW, Bartolo C, Pearl DK, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR (1995) Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet 57: 22-33
78. Roberts RG, Coffey AJ, Bobrow M, Bentley DR (1993) Exon structure of the human dystrophin gene Genomics 16: 536-8
79. Roberts RG, Gardner RJ, Bobrow M (1994) Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mutat 4: 1-11
80. Saad FA, Vitiello L, Merlini L, Mostacciuolo ML, Oliviero S, Danieli GA (1992) A 3′ consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions. Hum Mol Genet 1: 345-6
81. Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM (1995) Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. (in press)
82. Samitt CE, Bonilla E (1990) Immunocytochemical study of dystrophin at the myotendinous junction. Muscle & Nerve 13: 493-500
83. Schofield JN, Blake DJ, Simmons C, Morris GE, Tinsley JM, Davies KE, Edwards YH (1994) Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines. Hum Mol Genet 3: 1309-16
84. Senter L, Luise M, Presotto C, Betto R, Teresi A, Ceoldo S, Salviati G (1993) Interaction of dystrophin with cytoskeletal proteins: binding to talin and actin Biochem Biophys Res Corn 192: 899-904
85. Shimizu T, Matsumura K, Sunada Y, Mannen T (1989) Dense immunostainings on both neuromuscular and myotendinous junctions with an anti-dystrophin monoclonal antibody. Biomed Res 10. 405-409
86. Speicher DW, Ursitti JA (1994) Spectrin motif: Conformation of a mammoth protein. Curr Biol 4: 154-157
87. Straub V, Bittner RE, Leger JJ, Voit T (1992) Direct visualization of the dystrophin network on skeletal muscle fiber membrane. J Cell Biol 119: 721-730
88. Suzuki A, Yoshida M, Hayashi K, Mizuno Y, Hagiwara Y, Ozawa E (1994) Molecular organization at the glycoprotein complex-binding site of dystrophin - Three dystrophin-associated proteins bind directly to the carboxyterminal portion of dystrophin. Europ J Biochem 220: 283-292
89. Suzuki A, Yoshida M, Ozawa E (1995) Mammalian alpha 1- and beta 1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH terminus. J Cell Biol 128: 373-81
90. Suzuki A, Yoshida M, Yamamoto H, Ozawa E (1992) Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain. FEBS Letters 308: 154-60
91. Tanaka H, Ozawa E (1990) Developmental expression of dystrophin on the rat myocardial cell membrane. Histochemistry 94: 449-53
92. Tinsley JM, Blake DJ, Roche A, Fairbrother U, Riss J, Byth BC, Knight AE, Kendrick-Jones J, Suthers GK, Love DR, Edwards YH, Davies KE (1992) Primary structure of dystrophin-related protein. Nature 360: 591-593
93. Vainzof M, Takata RI, Passos-Bueno MR, Pavanello RC, Zatz M (1993) Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype? Hum Mol Genet 2. 39-42
94. Wagner KR, Cohen JB, Huganir RL (1993) The 87K post-synaptic membrane protein from Torpedo is a proteintyrosine kinase substrate homologous to dystrophin. Neuron 10: 511-522
95. Watkins SC, Hoffman EP, Slayter HS, Kunkel LM (1988) Immunoelectron microscopic localization of dystrophin in myofibres. Nature 333: 863-6
96. Way M, Pope B, Cross RA, Kendrick-Jones J, Weeds AG (1992) Expression of the N-terminal domain of dystrophin in E. coli and demonstration of binding to F-actin. FEBS Letters 301: 243-5
97. Yan Y, Winograd E, Viel A, Cronin T, Harrison SC, Branton D (1993) Crystal structure of the repetitive segments of spectrin. Science 262: 2027-2030
98. Yang B, Ibraghimov-Beskrovnaya O, Moomaw CR, Slaughter CA, Campbell KP (1994) Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression. J Biol Chem 269 6040-6044
99. Yang B, Jung D, Rafael JA, Chamberlain JS, Campbell KP (1995) Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin. J Biol Chem 270: 4975-4978
100. Yoshida M, Ozawa E (1990) Glycoprotein complex anchoring dystrophin to sarcolemma J Biochem 108: 748-52
101. Zhao J, Yoshioka K, Miyatake M, Miike T (1992) Dystrophin and a dystrophin-related protein in intrafusal muscle fibers, and neuromuscular and myotendinous junctions. Acta Neuropathol 84: 141-6
102. Zubrzycka-Gaarn EE, Bulman DE, Karpati G, Burghes AH, Belfall B, Klamut HJ, Talbot J, Hodges RS, Ray PN, Worton RG (1988) The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 333: 466-9