Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan

Muscle and Nerve

Volumn 29, Issue 3, 2004, Pages 409-419

  Shi, Weixing ^a   Chen, Zaili ^a   Schottenfeld, Jodi ^a   Stahl, Richard C ^a   Kunkel, Louis M ^b   Chan, Yiu Mo ^a  

^a WEIS CENTER FOR RESEARCH   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Cross linking; Glycosylation; Limb girdle muscular dystrophy; Membrane localization; Sarcoglycan

Indexed keywords

BETA SARCOGLYCAN; COMPLEMENTARY DNA; DELTA SARCOGLYCAN; MEMBRANE PROTEIN; MONOCLONAL ANTIBODY; POLYCLONAL ANTIBODY; RNA; SARCOGLYCAN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL CULTURE; COMPLEX FORMATION; CROSS LINKING; GENE MUTATION; GLYCOSYLATION; IMMUNOBLOTTING; LIMB GIRDLE MUSCULAR DYSTROPHY; MOLECULAR CLONING; MUSCULAR DYSTROPHY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ANIMALS; CARDIOMYOPATHIES; CELL DIFFERENTIATION; CELL MEMBRANE; COS CELLS; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; FIBROBLASTS; GLYCOSYLATION; MACROMOLECULAR SUBSTANCES; MEMBRANE GLYCOPROTEINS; MICE; MUSCLE FIBERS; MUSCULAR DYSTROPHIES; MUTATION; MYOBLASTS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; SARCOGLYCANS; TRANSFECTION;

EID: 1442279913     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10566     Document Type: Article

References (47)

1. Araishi K, Sasaoka T, Imamura M, Noguchi S, Hama H, Wakabayashi E, Yoshida M, Hori T, Ozawa E. Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy on β-sarcoglycan-deficient mice. Hum Mol Genet 1999; 8:1589-1598.
2. Betto R, Senter L, Ceoldo S, Tarricone E, Biral D, Salviati G. Ecto-ATPase activity of α-sarcoglycan (adhalin). J Biol Chem 1999;274:7904-7912.
3. Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP, Ozawa E, Kunkel LM. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995;11:266-272.
4. Bonnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, Moreira ES, Marie SK, Pavanello RCM, Noguchi S, Ozawa E, Zatz M, Kunkel LM. Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet 1996;5:1953-1961.
5. Bonnemann CG, Wong J, Jones KJ, Lidov HGW, Feener CA, Shapiro F, Darras BT, Kunkel LM, North KN. Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord 2002;12:273-280.
6. Carol-Vazquez R, Cohn RD, Moore SA, Hill JA, Weiss RM, Davisson RL, Straub V, Barresi R, Bansai D, Hrstka RF, Williamson R, Campbell KP. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 1999;98: 465-474.
7. Carrie A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat J-M, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tome FMS, Fardeau M, Sunada Y, Campbell KP, Kaplan J-C, Jeanpierre M. Mutational diversity and hot spots in the α-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J. Med Genet 1997;34:470-475.
8. Chan YM, Bonnemann CG, Lidov HGW, Kunkel LM. Molecular organization of sarcoglycan complex in mouse myotubes in culture. J. Cell Biol 1998;143:2033-2044.
9. Conti LR, Radeke CM, Vandenberg CA. Membrane targeting of ATP-sensitive potassium channel. Effects of glycosylation on surface expression. J. Biol Chem 2002;277:25416-25422.
10. Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tome FMS, Campbell KP. Molecular and genetics characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Hum Mol Genet 2000;9:2019-2027.
11. Crosbie RH, Barresi R, Campbell KP. Loss of sarcolemma nNOS in sarcoglycan-deficient muscle. FASEB J 2002;16:1786-1791.
12. Dincer P, Bonnemann CG, Aker OE, Akcoren Z, Nigro V, Kunkel LM, Topaloglu H. A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F. Neuromuscul Disord 2000;10:247-250.
13. Dressman D, Araishi K, Imamura M, Sasaoka T, Liu LA, Engvall E, Hoffman EP. Delivery of alpha- and beta-sarcoglycan by recombinant adeno-associated virus: efficient rescue of muscle, but differential toxicity. Hum Gene Ther 2002;13: 1631-1646.
14. 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 α-sarcoglycan-deficient mice. J Cell Biol 1998;142:1461-1471.
15. Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med 1997;336:618-624.
16. Durand M, Suel L, Barbet JP, Beckman JS, Fougerousse F. Sequential expression of genes involved in muscular dystrophies during human development. Morphologie 2002;86:9-12.
17. Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell 1991;66:1121-1131.
18. Ervasti JM, Campbell KP. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993;122:809-823.
19. Fadic R, Sunada Y, Waclawik AJ, Buck S, Lewandoski PJ, Campbell KP, Lotz BP. Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy. N Engl J Med 1996;334: 362-366.
20. Hack AA, Ly CT, Jiang F, Clendenin CJ, Sigrist KS, Wollmann RL, McNally EM. γ-Sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin. J Cell Biol 1998;142:1279-1287.
21. Hack AA, Cordier L, Shoturma DI, Lam MY, Sweeney HL, McNally EM. Muscle degeneration without mechanical injury in sarcoglycan deficiency. Proc Natl Acad Sci USA 1999;96: 10723-10728.
22. Hack AA, Lam MY, Cordier L, Shoturma DI, Ly CT, Hadhazy MA, Hadhazy MR, Sweeney HL, McNally EM. Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci 2000;113:2535-2544.
23. Helenius A. How N-linked oligosaccharides affect glycoprotein folding in the endoplasmic reticulum. Mol Biol Cell 1994;3:253-265.
24. Helenius A, Aebi M. Intracellular functions of N-linked glycans. Science 2001;291:2364-2369.
25. Higuchi I, Kawai H, Umaki Y, Kawajiri M, Adachi K, Fukunaga H, Nakagawa M, Arimura K, Osame M. Different manners of sarcoglycan expression in genetically proven alpha-sarcoglycan deficiency and gamma-sarcoglycan deficiency. Acta Neuropathol (Berl) 1998;2:202-206.
26. Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-928.
27. Holt KH, Campbell KP. Assembly of the sarcoglycan complex. J Biol Chem 1998;273:34667-34670.
28. Imamura M, Araishi K, Noguchi S, Ozawa E. A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system. Hum Mol Genet 2000;9:3091-3100.
29. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener CA, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-517.
30. Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, Tome FMS, Fardeau M, Jackson CE, Beckman JS, Campbell KP. β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995;11:257-265.
31. Madeleine D, Cohn RD, Hrstka RF, Moore SA, Allamand V, Davidson BL, Williamson RA, Campbell KP. Disruption of the β-sarcoglycan gene reveals pathogenic complexity of limb-girdle muscular dystrophy type 2E. Mol Cell 2000;5:141-151.
32. McNally EM, Bonnemann CG, Kunkel LM, Bhattacharya SK. Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. N Engl J Med 1996;334:1610-1611.
33. McNally EM, Duggan D, Gorospe JR, Bonnemann CG, Fanin M, Pegoraro E, Lidov HGW, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP. Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy. Hum Mol Genet 1996;5:1841-1847.
34. Merlini L, Kaplan JC, Navarro C, Barois A, Bonneau D, Brasa J, Echenne B, Gallano P, Jarre L, Jeanpierre M, Kalaydjieva L, Leturcq F, Levi-Gomes A, Toutain A, Tournev I, Urtizberea A, Vallat JM, Voit T, Warter JM. Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation. Neurology 2000;54:1075-1079.
35. Nigro V, Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passo-Bueno MR, Zatz M. Autosomal recessive limb-girdle muscular dystrophy, LGMD 2F, is caused by a mutation in the δ-sarcoglycan gene. Nat Genet 1996;14:195-198.
36. Noguchi S, McNally EM, Othmane KB, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentai F, Hamida MB, Nonaka I, Vance JM, Kunkel LM, Ozawa E. Mutations in the dystrophin-associated protein-γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995;270:819-821.
37. Noguchi S, Wakabayashi E, Imamura M, Yoshida M, Ozawa E. Developmental expression of sarcoglycan gene products in cultured myocytes. Biochem Biophy Res Commun 1999;262:88-93.
38. Noguchi S, Wakabayashi E, Imamura M, Yoshida M, Ozawa E. Formation of sarcoglycan complex with differentiation in cultured myocytes. Eur J Biochem 2000;267:640-648.
39. Ozawa E, Yoshida M, Suzuki A, Mizuno Y, Hagiwara Y, Noguchi S. Dystrophin-associated proteins in muscular dystrophy. Hum Mol Genet 1995;4:1711-1716.
40. Piccolo F, Jeanpierre M, Leturcq F, Dode C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tome FMS, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet 1996;5:2019-2022.
41. Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tome FMS, Romero NB, Fardeau M, Beckman JS, Kaplan J-C, Campbell KP. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994;8:625-633.
42. Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HGW, McNally EM, Watkins SC, Kunkel LM. Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein. J Cell Biol 2000;148:115-126.
43. Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RCM, Marie SK, Anderson LVB, Bonnemann CG, McNally EM, Nigro V, Kunkel LM, Zatz M. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet 1996;5:1963-1969.
44. Wheeler MT, Zarnegar S, McNally EM. Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. Hum Mol Genet 2002;11:2147-2154.
45. Yoshida M, Ozawa E. Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem (Tokyo) 1990;108:748-752.
46. 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: 1583-1590.
47. Zhu X, Hadhazy M, Groh ME, Wheeler MT, Wollmann R, McNally EM. Overexpression of gamma-sarcoglycan induces severe muscular dystrophy. J Biol Chem 2001;276:21785-21790.