Dystroglycan and muscolar dystrophies related to the dystrophin-glycoprotein complex

Annali dell'Istituto Superiore di Sanita

Volumn 39, Issue 2, 2003, Pages 173-181

  Sciandra, Francesca ^a   Bozzi, Manuela ^a   Bianchi, Marzia ^a   Pavoni, Ernesto ^a   Giardina, Bruno ^a   Brancaccio, Andrea ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

Dystroglycan; Dystrophin glycoprotein complex; Muscular dystrophy

Indexed keywords

CAVEOLIN 2; DYSTROGLYCAN; DYSTROPHIN; GLYCOPROTEIN; MEROSIN; SARCOGLYCAN; CAV3 PROTEIN, MOUSE; CAVEOLIN; CAVEOLIN 3; CYTOSKELETON PROTEIN; DAG1 PROTEIN, HUMAN; LAMININ; LAMININ ALPHA2; MEMBRANE PROTEIN;

ARTICLE; CYTOSKELETON; EMBRYO DEVELOPMENT; EXTRACELLULAR MATRIX; HUMAN; MUSCULAR DYSTROPHY; NEUROMUSCULAR DISEASE; NONHUMAN; PROTEIN FUNCTION; PROTEIN STRUCTURE; SARCOLEMMA; SKELETAL MUSCLE; ANIMAL; ANIMAL MUSCULAR DYSTROPHY; CHEMISTRY; GENETICS; MACROMOLECULE; METABOLISM; MOUSE; MOUSE MUTANT; PHYSIOLOGY; PROTEIN PROCESSING; REVIEW;

ANIMALS; CAVEOLIN 3; CAVEOLINS; CYTOSKELETAL PROTEINS; CYTOSKELETON; DYSTROGLYCANS; HUMANS; LAMININ; MACROMOLECULAR SUBSTANCES; MEMBRANE GLYCOPROTEINS; MICE; MICE, KNOCKOUT; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, ANIMAL; PROTEIN PROCESSING, POST-TRANSLATIONAL; SARCOLEMMA;

EID: 0141892162     PISSN: 00212571     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (81)

1. Spence HJ, Chen YJ, Winder SJ. Muscular dystrophies, the cytoskeleton and cell adhesion. BioEssays 2002;24(6):542-52.
2. Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell 1991;66(6):1121-31.
3. Henry MD, Campbell KP. Dystroglycan inside and out. Curr Opin Cell Biol 1999;11(5):602-7.
4. Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51(6):919-28.
5. Campbell KP. Three muscular dystrophies: loss of the cytoskeleton-extracellular matrix linkage. Cell 1995;80(5):675-9.
6. Hack AA, Groh ME, McNally EM. Sarcoglycans in muscular dystrophy. Microsc Res Tech 2000;48(3-4):167-80.
7. Miyagoe-Suzuki Y, Nakagawa M, Takeda S. Merosin and congenital muscular dystrophy. Res Tech 2000;48(3-4):181-91.
8. Salih MA, Sunada Y, Al-Nasser M, Ozo CO, Al-Turaiki MH, Akbar M, Campbell KP. Muscular dystrophy associated with beta-dystroglycan deficiency. Ann Neurol 1996;40(6):925-8.
9. Durbeej M, Henry MD, Campbell KP. Dystroglycan in development and disease. Curr Opin Cell Biol 1998;10(5):594-601.
10. Muntoni F, Brockington M, Blake DJ, Torelli S, Brown SC. Defective glycosylation in muscular dystrophy. Lancet 2002; 360(9343):1419-21.
11. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992;355(6362):696-702.
12. Winder S. The complexities of dystroglycan. Trends Biochem Sci 2001;26(2):118-24.
13. Durbeej M, Henry MD, Ferletta M, Campbell KP, Ekblom P. Distribution of dystroglycan in normal adult mouse tissues. J Histochem Cytochem 1998;46(4):449-57.
14. Chiba A, Matsumura K, Yamada H, Inazu T, Shimizu T, Kusunoki S, Kanazawa I, Kobata A, Endo T. Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide the binding of alpha-dystroglycan with laminin. J Biol Chem 1997;272(4):2156-62.
15. Brancaccio A, Schulthess T, Gesemann M, Engel J. Electron microscopic evidence for a mucin-like region in chick muscle alpha-dystroglycan. FEBS Lett 1995;368(1):139-42.
16. Sciandra F, Schneider M, Giardina B, Baumgartner S, Petrucci TC, Brancaccio A. Identification of the beta-dystroglycan binding epitope within the C-terminal region of alpha-dystroglycan. Eur J Biochem 2001;268(16):4590-7.
17. Bozzi M, Veglia G, Paci M, Sciandra F, Giardina B, Brancaccio A. A synthetic peptide corresponding to the 550-585 region of alpha-dystroglycan binds beta-dystroglycan as revealed by NMR spectroscopy. FEBS Lett 2001;499(3):210-4.
18. Cartaud A, Coutant S, Petrucci TC, Cartaud J. Evidence for in situ and in vitro association between beta-dystroglycan and the subsynaptic 43K rapsyn protein. Consequence for acetylcholine receator clustering at the synapse. J Biol Chem 1998; 273(18):11321-6.
19. Jung D, Yang B, Meyer J, Chamberlain JS, Campbell KP. Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. J Biol Chem 1995;270(45):27305-10.
20. Yang B, Jung D, Motto D, Meyer J, Koretzky G, Campbell KP. SH3 domain-mediated interaction of dystroglycan and Grb2. J Biol Chem 1995;270(20):11711-4.
21. Yoshida T, Pan Y, Hanada H, Iwata Y, Shigekawa M. Bidirectional signaling between sarcoglycans and the integrin adhesion system in cultured L6 myocytes. J Biol Chem 1998;273(3):1583-90.
22. James M. Nuttall A, Ilsley JL, Ottersbach K, Tinsley JM, Sudol M, Winder SJ. Adhesion-dependent tyrosine phosphorylation of (beta)-dystroglycan regulates its interaction with utrophin. J Cell Sci 2000;113(Pt 10):1717-26.
23. Sotgia F, Lee H, Bedford MT, Petrucci T, Sudol M, Lisanti MP. Tyrosine phosphorylation of beta-dystroglycan at its WW domain binding motif, PPxY, recruits SH2 domain containing proteins. Biochemistry 2001;40(48):14585-92.
24. Henry MD, Campbell KP. Dystroglycan: an extracellular-matrix receptor-linked to the cytoskeleton. Curr. Opin. Cell Biol 1996; 8(5):625-31.
25. Williamson RA, Henry MD, Daniels KJ, Hrstka RF, Lee JC, Sunada Y, Ibraghimov-Beskrovnaya O, Campbell KP. Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice. Hum Mol Genet 1997;6(6):831-41.
26. Henry MD, Campbell KP. A role for dystroglycan in basement membrane assembly. Cell 1998;95(6):859-70.
27. Colognato H, Winkelmann DA, Yurchenco PD. Laminin polymerization induces a receptor-cytoskeleton network. J. Cell Biol 1999;145(3):619-31.
28. Cote PD, Moukhles H, Lindenbaum M, Carbonetto S. Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses. Nat Genet 1999;23(3):338-42.
29. Cohn RD, Henry MD, Michele DE, Barresi R, Saito F, Moore SA, Flanagan JD, Skwarchuk MW, Robbins ME, Mendell JR, Williamson RA, Campbell KP. Disruption of DAGI in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell 2002;110(5):639-48.
30. Gesemann M, Cavalli V, Denzer AJ, Brancaccio A, Schumacher B, Ruegg MA. Alternative splicing of agrin alters its binding to heparin, dystroglycan, and the putative agrin receptor. Neuron 1996;16(4):755-67.
31. Hopf C, Hoch W. Agrin binding to alpha-dystroglycan. Domains of agrin necessary to induce acetylcholine receptor clustering are overlapping but not identical to the alpha-dystroglycan-binding region. J Biol Chem 1996;271(9):5231-6.
32. Cao W, Henry MD, Borrow P, Yamada H, Elder JH, Ravkov EV, Nichol ST, Compans RW, Campbell KP, Oldstone MB. dentification of alpha-dystroglycan as a receptor for lymphocytic choriomeningitis virus and Lassa fever virus. Science 1998;282(5396):2079-81.
33. Rambukkana A, Yamada H, Zanazzi G, Mathus T, Salzer JL, Yurchenco PD, Campbell KP, Fischetti VA. Role of alpha-dystroglycan as a Schwann cell receptor for Mycobacterium leprae. Science 1998;282(5396):2076-9.
34. Henry MD, Cohen MB, Campbell KP. Reduced expression of dystroglycan in breast and prostate cancer. Hum Pathol 2001;32(8):791-5.
35. Losasso C, Di Tommaso F, Sgambato A, Ardito R, Cittadini A, Giardina B, Petrucci TC, Brancaccio A. Anomalous dystroglycan in carcinoma cell lines. FEBS Lett 2000;484(3):194-8.
36. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1998;53(2):219-26.
37. Cohn RD, Campbell KP. The molecular basis of muscular dystrophies. Muscle Nerve 2000;23(10):1456-71.
38. Piccolo F, Moore SA, Mathews KD, Campbell KP. Limb-girdle muscular dystrophies. Adv Neurol 2002;88:273-91.
39. Ohlendieck K, Campbell KP. Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice. J Cell Biol 1991;115(6):1685-94.
40. Narita S, Yorifuji H. Centrally nucleated fibers (CNFs) compensate the fragility of myofibers in mdx mouse. Neuroreport 1999;10(15):3233-5.
41. Rybakova IN, Patel JR, Ervasti JM. The dystrophin complex forms a mechanically strong link between the sarcolemma and the costameric actin. J Cell Biol 2000;150(5):1209-14.
42. Cox GA, Sunada Y, Campbell KP, Chamberlain JS. Dp71 can restore the dystrophin-glycoprotein complex in muscle but fails to prevent dystrophy. Nat Genet 1994;8(4):333-9.
43. Greenberg DS, Sunada Y, Campbell KP, Yaffe D, Nudel U. Exogenous Dp71 restores the levels of dystrophin-associated proteins but does not alleviate muscle damage in mdx mice. Nat Genet 1994;8(4):340-4.
44. Tinsley JM, Potter AC, Phelps SR, Fisher R, Trickett JI, Davies KE. Amelioration of dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature 1996;384(6607):349-53.
45. Musaro A, McCullagh K, Paul A, Houghton L, Dobrowolny G, Molinaro M, Barton ER, Sweeney HL, Rosenthal N. Localized Igf-1 transgene expression sustains hypertrophy and regeneration in senescent skeletal muscle. Nat Genet 2001;27(2):195-200.
46. Florini JR, Ewton DZ, Coolican SA. Growth hormone and the insuline-like growth factor system in myogenesis. Endocr Rev 1996;17(5):481-517.
47. Bogdanovich S, Krag TO, Barton ER, Morris LD, Whittemore LA, Ahima RS, Khurana TS. Functional improvement of dystrophic muscle by myostatin blockade. Nature 2002;420(6914):418-21.
48. Sharma M, Langley B, Bass J, Kambadur R. Myostatin in muscle growth and repair. Exerc Sport Sci Rev 2001;29(4):155-8.
49. Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M. From dystrophinophaty to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve 1998;21(4):421-38.
50. Crosbie RH, Heighway J, Venzke DP, Lee JC, Campbell KP. Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex. J Biol Chem 1997;272(50):31221-4.
51. Noguchi S, Wakabayashi E, Imamura M, Yoshida M, Ozawa E. Formation of sarcoglycan complex with differentiation in cultured myocytes. Eur J Biochem 2000;267(3):640-8.
52. Barresi R, Confalonieri V, Lanfossi M, Di Blasi C, Torchiana E, Mantegazza R, Jarre L, Nardocci N, Boffi P, Tezzon F, Pini A, Cornelio F, Mora M, Morandi L. Concomitant deficiency of beta- and gamma-sarcoglycans in 20 alpha-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects. Acta Neuropathol 1997;94(1):28-35.
53. Durbeej M, Campbell KP. Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse model. Curr Opin Genet Develop 2002;12(3):349-61.
54. Duclos F, Straub 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. Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J Cell Biol 1998;142(6):1461-71.
55. Durbeej M, Cohn RD, Hrstka RF, Moore SA, Allamand V, Davidson BL, Williamson RA, Campbell KP. Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Mol Cell 2000;5(1):141-51.
56. Lebakken CS, Venzke DP, Hrstka RF, Consolino CM, Faulkner JA, Williamson RA, Campbell KP. Sarcospan-deficient mice maintain normal muscle function. Mol Cell Biol 2000;20(5):1669-77.
57. Holt KH, Lim LE, Straub V, Venzke DP, Duclos F. Anderson RD, Davidson BL, Campbell KP. Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer. Mol Cell 1998;1(6):841-8.
58. Razani B, Lisanti MP. Caveolins and caveolae: molecular and functional relationships. Exp Cell Res 2001;271(1):36-44.
59. Galbiati F, Razani B, Lisanti MP. Cavolae and caveolin-3 in muscular dystrophy. Trends Mol Med 2001;7(10):435-41.
60. Sotgia F, Lee JK, Das K, Bedford M, Petrucci TC, Macioce P. Sargiacomo M, Bricarelli FD, Minetti C, Sudol M, Lisanti MP. Caveolin-3 directly interacts with the C-terminal tail of beta dystroglycan. Identification of a central WW-like domain within caveolin family members. J Biol Chem 2000; 275(48):38048-58.
61. Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998;18(4):365-8.
62. Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, Lenard HG, Kroger S, Voit T. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet 2000;9(15):2335-40.
63. Park DS, Woodman SE, Schubert W, Cohen AW, Frank PG, Chandra M, Shirani J, Razani B, Tang B, Jelicks LA, Factor SM, Weiss LM, Tanowitz HB, Lisanti MP. Caveolin-1/3 double-knockout mice are viable, but lack both muscle and non-muscle caveolae, and develop a severe cardiomyopathic phenotype. Am J Pathol 2002;160(6):2207-17.
64. Galbiati F, Volonte D, Chu JB, Li M, Fine SW, Fu M, Bermudez J, Pedemonte M, Weidenheim KM, Pestell RG, Minetti C, Lisanti MP. Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype. Proc Natl Acad Sci USA 2000;97(17):9689-94.
65. Colognato H, Yurchenco PD. Form and function: the laminin family of heterotrimers. Dev Dyn 2000;218(2):213-34.
66. Talts JF, Andac Z, Gohring W, Brancaccio A, Timpl R. Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins. EMBO J 1999;18(4):863-70.
67. Sugita, S, Saito F, Tang J, Satz J, Campbell KP, Sudhof TC. A stoichiometric complex of neurexins and dystroglycan in brain. J Cell Biol 2001;154(2):435-45.
68. Brancaccio A, Schulthess T, Gesemann M, Engel J. The N-terminal region of alpha-dystroglycan is an autonomous globular domain. Eur J Biochem 1997;246(1):166-72.
69. Tisi D, Talts JF, Timpl R, Hohenester E. Structure of the C-terminal laminin G-like domain pair of the laminin alpha2 chain harbouring binding sites for alpha-dystroglycan and heparin. EMBO J 2000;19(7):1432-40.
70. Ervasti JM, Campbell KP. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993;122(4):809-23.
71. Moll J, Barzaghi P, Lin S, Bezakova G, Lochmuller H, Engvall E, Muller U, Ruegg MA. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001;413(6853):302-7.
72. Sunada Y, Bernier SM, Kozak CA, Yamada Y and Campbell KP. Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J Biol Chem 1994;269(19):13729-32.
73. Vachon PH, Xu H, Liu L, Loechel F, Hayashi Y, Arahata K, Reed JC, Wewer UM Engvall E. Integrins (alpha7beta1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy. J Clin Invest 1997; 100(7):1870-81.
74. Andac Z, Sasaki T, Mann K. Brancaccio A, Deutzmann R, Timpl R. Analysis of heparin, alpha-dystroglycan and sulfatide binding to the G domain of the laminin alpha1 chain by site-directed mutagenesis. J Mol Biol 1999;287(2):253-64.
75. McDearmon EL, Burwell AL, Combs AC, Renley BA, Sdano MT, Ervasti JM. Differential heparin sensitivity of alpha-dystroglycan binding to laminins expressed in normal and dy/dy mouse skeletal muscle. J Biol Chem 1998;273(37):24139-44.
76. Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M. Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001;1(5):717-24.
77. Beltran-Valero De Bernabe D, Currier S, Steinbrecher A, Celli J, Van Beusekom E, Van Der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, Van Bokhoven H, Brunner HG. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg Syndrome. Am J Hum Genet 2002;71(5):1033-43.
78. Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondolida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998;394(6691):388-92.
79. Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 2001;10(25):2851-9.
80. Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V. Mathews KD, Moore SA, Campbell KP. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002;418(6896):417-22.
81. Nguyen HH, Jayasinha V, Xia B, Hoyte K, Martin PT. Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice. Proc Natl Acad Sci U S A 2002;99(8):5616-21.