Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans

Italian Journal of Neurological Sciences

Volumn 20, Issue 6, 1999, Pages 371-379

  Betto, R ^a   Biral, D ^a   Sandona D ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Duchenne's muscular dystrophy; Dystrophin; Dystrophin associated proteins; Limb girdle muscular dystrophy; Sarcoglycans; sarcoglycan

Indexed keywords

CYTOSKELETON PROTEIN; DAG1 PROTEIN, HUMAN; DYSTROGLYCAN; DYSTROPHIN; MEMBRANE PROTEIN; SARCOGLYCAN;

AMINO ACID SEQUENCE; ANIMAL; DOMINANT GENE; GENETICS; HUMAN; METABOLISM; MOLECULAR GENETICS; MUSCULAR DYSTROPHY; PHYSIOLOGY; RECESSIVE GENE; REVIEW; SARCOLEMMA;

AMINO ACID SEQUENCE; ANIMALS; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; DYSTROPHIN; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; SARCOGLYCANS; SARCOLEMMA;

EID: 0033290028     PISSN: 03920461     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100720050054     Document Type: Article

References (83)

1. Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM.(1986) Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323:646-650
2. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener CA, 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 50:509-517
3. Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP (1990) Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345:315-319
4. Yoshida M, Ozawa E (1990) Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 108:748-752
5. Ervasti JM, Campbell KP ( 1991 ) Membrane organization of the dystrophin-glycoprotein complex. Cell 66:1121 -1131
6. Pasternak C, Wong S, Elson EL (1995) Mechanical function of dystrophin in muscle cells. J Cell Biol 128:355-361
7. Sträub V, Campbell KP (1997) Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol 10:168175
8. Brown RH (1997) Dystrophin-associated proteins and the muscular dystrophies. Ann Rev Med 48:457-466
9. Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M (1998) From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve 21:421-438
10. Koenig M. Monaco AR Kunkel LM (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53:219-226
11. Bonilla E, Samitt CE, Miranda AF, Hays AP, Salviati G, DiMauro S, Kunkel LM, Hoffman ER Rowland LP (1988) Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 54:447-452
12. Miranda AF, Francke U, Bonilla E, Martucci G, Schmidt B, Salviati G, Rubin M (1989) Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy. Am J Med Genet 32:268-273
13. Hoffman EP, Brown RH, Kunkel LM (1987) Dystrophin, the protein product of the Duchenne muscular dystrophy locus. Cell 51:919-928
14. 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 Commun 192:899-904
15. Hemmings L, Kuhlman PA, Critchley DR ( 1992) Analysis of the actin-binding domain of a-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain. J Cell Biol 116:1369-1380
16. Amann KJ, Renley BA, Ervasti JM (1998) A cluster of basicrepeats in the dystrophin rod domain binds F-actin through an electrostatic interaction. J Biol Chem 273:28419-28423
17. Pearlman JA, Powaser PA, Elledge SJ, Caskey, CT (1994) Troponin T is capable of binding dystrophin via a leucine zipper. FEES Lett 354:183-186
18. Knudson CM, Hoffman EP, Kahl SD, Kunkel LM, Campbell KP (1988) Evidence for the association of dystrophin with transverse tubular system in skeletal muscle. J Biol Chem 263:8480-8484
19. Salviati G, Betto R, Ceoldo S, Biasia E, Bonilla E, Miranda FA, DiMauro S (1989) Cell fractionation studies indicate that dyslrophin is a protein of surface membranes of skeletal muscle. Biochem J 258:837-841
20. Peri V, Ajdukovic B, Holland P, Tuana BS (1994) Dystrophin predominantly localizes to the transverse tubule/Z-line regions of single ventricular myocytes and exhibits distinct association with the membrane. Mol Cell Biochem 130:57-65
21. Campanelli JT, Roberds SL, Campbell KP, Scheller RH (1994) A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AchR clustering. Cell 77:663-774
22. Sumitt CE, Bonilla E (1990) Immunocytochemical study of dystrophin at the myotendinous junction. Muscle Nerve 13:493-500
23. 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 Ihe carboxy-terminal domain. FEBS Lett 308:154-160
24. Ahn AH, Kunkel LM (1995) Synlrophin hinds to an alternatively spliced exon of dystrophin. J Cell Biol 128:363-371
25. Sadoulet-Puccio HM. Rajala M. Kunkel LM (1997) Dystrobrevin and dystrophin: an interaction through coiledeoil motifs. Proc Nail Acad Sei USA 94:12413-12418
26. Brenman JE, Chao DS, Xia H, Aldape K, Bredt DS (1995) Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 82:743-752
27. Kusner LL, Kamiski HJ (1996) Nitric oxide synthase is concentrated at the skeletal muscle endplate. Brain Res 730:238-242
28. Chan Y, Bonnemann CG, Lidow HGW, Kunkel LM (1998) Molecular organization of sarcoglycan complex1 in culture. J Cell Biol 143:2033-2044
29. Crosbie RH, Lebakken CS, Holt KH, Venzke DP, Sträub V, Lee JC, Grady RM, Chamberlain JS, Sanes JR, Campbell KP (1999) Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex. J Cell Biol 145:153-165
30. Henry MD, Campbell KP ( 1996) Dystroglycan: an extracellular matrix receptor linked to the cytoskeleton. Curr Opin Cell Biol 8:625-631
31. Henry MD, Campbell KP (1998) A role for dystroglycan in basement membrane assembly. Cell 95:589-870
32. Colognato H, Winkelmann DA, Yurchenco PD (1999) Laminin polymerization induces a receptor-cytoskeleton network. J Cell Biol 145:619-631
33. Williamson RA, Henry MD, Daniels KJ, Hrstka RF, Lee JC, Sunada Y, Ibraghimov-Beskrovnaya O, Campbell KP (1997) Dystroglycan is essential for early embyonic development: disruption of Reichert's membrane in Dag I-null mice. Hum Mol Genet 6:831-834
34. Ervasti JM, Campbell KP (1993) A role for the dystrophinglycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 122:809-823
35. 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
36. Xu H, Wu XR, Wewer UM, Engval E (1994) Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Nat Genet 8:297-302
37. Mayer U, Saher R, Fassler A, Bornemann A, Echtermeyer F, von der Mark H, Miosge N, Miosge Poschl E, von der Mark K (1997) Absence of integrin alpha 7 causes a novel form of muscular dystrophy. Nat Genet 17:318-323
38. Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP, Qzawa E, LM Kunkel (1995) -sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 11:266-272
39. Lim LE, Duclos F, Bronx O, Bourg N, Sunada Y. Allamand J, Meyer L MoomaJ. RC. Slaughter C (1995) β-Sarcoglycan characterization and role in limb-girdle muscular dystrophy linked to 4ql2. Nat Genet 11:257-265
40. Jung D, Leturcq F, Sunada Y, Duclos F, Tome FMS, Moomaw C, Merlini L. Azibi K. Chaouch M, Slaughter C, Fardeau M, Kaplan J-C. Campbell KP (1996) Absence of y-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13ql2. FEBS Lett 38:15-20
41. Nigro V, Moreira E, Piluso G, Vainzof M, Belsito A. Politano L, Puca AA, Passo-Bueno MR, Zatz M (1996) Autosomal recessive limb-girdle muscular dystrophy, LGMD 2F, is caused by a mutation in the o-sarcoglycan gene. Nat Genet 14:195-198
42. Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamolo H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L. Hentati F, Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E (1995) Mutations in the dystrophin-associated protein y-sarcoglycan in chromosome 13 muscular dystrophy. Science 270:819-822
43. Ettinger AJ, Feng G, Sanes JR ( 1997) e-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. J Biol Chem 272:32534-32538
44. McNally EM, Ly CT, Kunkel LM (1998) Human e-sarcoglycan is highly related to a-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS Lett 422:27-32
45. Beckmann JS, Bushby KMD ( 1996) Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy. CurrOpin Neurol 9:389-393
46. Yoshida M, Suzuki A, Yamamoto H, Noguchi S, Mizuno Y, Ozawa E (1994) Dissociation of the complex of dystrophin and its associated proteins into several unique groups by noctyl -D-glucoside. Eur J Biochem 222:1055-1061
47. Sakamoto A, Ono K, Abe M, Jasmin G, Eki T, Murakami Y, Masaki T, Toyo-Oka T, Hanaoka F (1997) Both hypertrophie and dilated cardiomyopathies are caused by mutation of the same gene, o-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sei USA 94:13873-13878
48. Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP (1993) Primary structure and muscle-specific expression of the 50 kDa dystrophin-glycoprotein (adhalin). J Biol Chem 268:23739-23742
49. Betto R, Senter L, Ceoldo S, Tarricone E, Biral D, Salviati G (1999) Ecto-ATPase activity of a-sarcoglycan (adhalin). J Biol Chem 274:7907-7912
50. Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tome FMS, Romero NB, Fardeau M, Beckmann JS, Kaplan JC, Campbell KP (1994) Missense mutations in thé adhalin gene linked to autosomal recessive muscular dystrophy. Cell 78:625-633
51. Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S, Fujiwara T, Okuno S, Shin S et al. (1995) Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. J Clin In vest 96:1202-1207
52. Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrie A, Recan D, Chaouch M, Reghis A, El Kerch F, Sefiani A, Voit T, Merlini L, Collin H, Eymard B, Beckmann JS, Romero NB, Tome FMS, Fardeau M,
53. Campbell KP, Kaplan JC (1995) Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 10:243-245
54. Duggan DJ. Fanin M, Pegoraro E, Angelini C, Huffman EP (1996) a-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations. J Neurol Sei 140:30-39
55. Carrie A, Piccolo F, Leturcq F, de Torna C, Azibi K, Beldjord C. Vallat JM, Merlini L, Voit T, Scwry C, Urtizberea JA, Romero N, Tome FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M (1997) Mutational diversity and hot spots in the oc-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 34:470-475
56. Bonnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, Moreira ES, Noguchi S, Ozawa E, Zatz M, Kunkel LM (1996) Genomic screening for -sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (EGMD 2E). Hum Mol Genet 5:1953-1961
57. McNally EM, Duggan D, Gorospe JR, Bonnemann CG, Fanin M, Pegoraro E, Eidov HGW, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Huffman EP (1996) Mutations that disrupt the carboxyl-terminus of y-sarcoglycan cause muscular dystrophy. Hum Mol Genet 5:1841-1847
58. McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, Moreira ES, Lidov HGW, Ben Othmane K, Denton PH, Vancc JM, Zat/ M, Kunkel LM (1996) Mild and severe muscular dystrophy caused by a single y-sarcoglycan mutation. Am J Hum Genet 59:1040-1047
59. Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G, Puca GA (1996) Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 5:1179-1186
60. Angelini C, Fanin M, Freda MP, Duggan DJ, Siciliano G, Huffman EP (1998) The clinical spectrum of sarcoglyeanopathies. Neurology 52:176-179
61. Duclos F. Sträub V, Moore SA, Venzke DP, Hrstka RF, Crosbie RH, Durbeej M, Lebakken CS, Ettinger AJ, van der Meulen J. Holt KH, Lim LE, Sanes JR, Davidson BL, Faulkner JA. Williamson R, Campbell KP (1998) Progressive muscular dystrophy in cx-sarcoglycan-deficient mice. J Cell Biol 142:1461-1471
62. Hack AA, Ly CT, Jiang F, Clendenin CJ, Sigrist KS, Wollmann RL, McNally EM (1998) y-Sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophy. J Cell Biol 142:1279-1287
63. Hack AA. Cordier L, Shoturma DI, Lam MY, Sweeney HL, McNally EM (1999) Muscle degeneration without injury in sarcoglycan deficiency. Proc Natl Acad Sei USA 96:1072310728
64. Masuda T. Fujimaki N, Ozawa E. Ishikawa H (1992) Confocal laser microscopy of dystrophin localization in guinea pig skeletal muscle fibers. J Cell Biol 119:543-548
65. Minetti C, Beltramc F, Marcenaro G, Bonilla E (1992) Dystrophin at the plasma membrane of human muscle fibres shows a costameric localization. Neuromus Disord 2:99-109
66. Williams MW, Bloch RJ (1999) Extensive but coordinated reorganization of the membrane skeleton in myofibers of dystrophic (mdx) mice. J Cell Biol 14:1259-1270
67. Gee SH, Madhavan SR, Levinson JH, Caldwell JH, Sealock R, Froehner SC (1998) Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins. J Neurosci 18:128-137
68. Lakonishok M, Muschler J, Horwitz AF (1992) The α5β integrin associates with a dystrophin-containing lattice during muscle development. Dev Biol 152:209-220
69. Heub D, Neundorfer B (1997) Light-microscopy study of the beta 1 integrin subunit in human skeletal muscle. Clin Neuropathol 16:319-327
70. Hodges BL, Hayashi YK, Nonaka I, Wang W, Arahata K, Kaufman SJ (1997) Altered expression of the alpha7betal integrin in human and murine muscular dystrophies. J Cell Sei 110:2873-2881
71. Vachon PH, Xu H, Liu L, Loechel, F, Hayashi Y, Arahata K, Reed JC, Wewer UM, Engvall E (1997) Integrins (a7bl) in muscle function and survival. J Clin Invest 100:1870-1881
72. Mayer U, Saher R, Fassler R, Bornemann A, Echtermeyer F, von der Mark H, Miosge N, Poschl E, von der Mark K (1997) Absence of integrin a7 causes a novel form of muscular dystrophy. Nat Genet 17:318-323
73. Pontig CP, Blake DJ, Davies KE, Kendrick JJ, Winder SJ (1996) ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins. Trends Biochem Sei 21:11-13
74. Fabbrizio E, Bonetkerrache A, Limas F, Hugon G, Mornet D (1995) Dystrophin, the protein that promotes membrane resistance. Biochem Biophys Res Commun 213:295-301
75. Jarrctt HW, Foster JL (1995) Alternate binding of actin and calmodulin to multiple sites of dystrophin. J Biol Chem 10:5578-5586
76. 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 293:243-247
77. Madhavan R, Jarret HW (1994) Calmodulin-activated phosphorylation of dystrophin. Biochemistry 33:3797-3804
78. Senter L, Ceoldo S, Meznaric Petrusa M, Salviati G (1995) Phosphorylation of dystrophin. Effects on actin binding. Biochem Biophys Res Commun 206:57-63
79. Chang WJ, lannaccone ST, Lau KS, Masters BSS, McCabe TJ, McMillan K. Padre RC, Spencer MJ, Tidball JG, Stull JT (1996) Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy. Proc Natl Acad Sei. USA 93:91429147
80. Yang B, Jung D, Motto D, Meyer J, Koretzky G, Campbell KP (1995) SH3 domain-mediated interaction of dystroglycan and Grb2. J Biol Chem 270:11711-11714
81. Cavaldesi M, Macchia G, Barca S, Defilippi P, Tarone G, Petrucci TC (1999) Association of the dystroglycan complex isolated from bovine brain synaptosomes with proteins involved in signal transduction. J Neurochem 72:1648-1655
82. Brown SC, Fassati A, Popplewell L, Page AM, Henry MD, Campbell KP, Dickson G (1999) Dystrophie phenotype induced in vitro by antibody blockade of muscle a-dystroglycan-laminin interaction. J Cell Sei 112:209-2016
83. Di Virgilio F, Chiozzi P, Falzoni S, Ferrari D, Sanz JM, Venketaraman V, Baricordi OR (1998) Cytolytic P2X receptors. Cell Death Diff 5:191-199