Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex

Neuromuscular Disorders

Volumn 6, Issue 6, 1996, Pages 475-482

  Duggan, David J ^a   Hoffman, Eric P ^a  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

sarcoglycan; sarcoglycan; sarcoglycan; sarcoglycan; Autosomal recessive muscular dystrophy; Dystrophin; Membrane cytoskeleton

Indexed keywords

DYSTROPHIN; GLYCOPROTEIN; SARCOGLYCAN;

AUTOSOMAL RECESSIVE INHERITANCE; BIOCHEMISTRY; CONFERENCE PAPER; CYTOSKELETON; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MOLECULAR BIOLOGY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL;

CYTOSKELETAL PROTEINS; DYSTROGLYCANS; GENES, RECESSIVE; HUMANS; MEMBRANE GLYCOPROTEINS; MUSCULAR DYSTROPHIES; MUTATION; SARCOGLYCANS;

EID: 0030469098     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(96)00388-4     Document Type: Conference Paper

References (65)

1. 1. Partridge, T A. Pathophysiology of muscular dystrophy. Br J Hosp Med 1993; 49: 26-36.
2. 2. Tinsley J M, Blake, D J, Zuellig, R A, Davies, K E. Increasing complexity of the dystrophin-associated protein complex. Proc Natl Acad Sci USA 1994; 91: 8307-8313.
3. 3. Campbell, K P. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995; 80: 675-679.
4. 4. Ozawa E, Yoshida M, Suzuki A, Mizuno Y, Hagiwara Y, Noguchi S. Dystrophin-associated proteins in muscular dystrophy. Hum Molec Genet 1995; 4: 1711-1716.
5. 5. Yoshida M, Suzuki A, Yamamoto H, Noguchi S, Mizuno Y, Ozawa E. Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl β-D-glucoside. Eur J Biochem 1994; 22: 1055-1061.
6. 6. Suzuki A, Yoshida M, Yamamoto H, Ozawa E. Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain. FEBS Letters 1992; 308: 154-160.
7. 7. Ibraghimov-Beskrovnaya O, Ervasti J M, Leveille C J, Slaughter C A, Sernett S W, Campbell K P. Primary structure of dystrophin-associated glycoprotein linking dystrophin to the extracellular matrix. Nature 1992; 355: 696-702.
8. 8. Ibraghimov-Beskrovnaya O, Milatovich A, Ozcelik T, et al. Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. Hum Molec Genet. 1993; 2: 1651-1657.
9. 9. Suzuki A, Yoshida M, Hayashi K, Mizuno Y, Hagiwara Y, Ozawa E. Molecular organization at the glycoprotein-complex-binding site of dystrophin: three dystrophin-associated proteins bind directly to the carboxy-terminal portion of dystrophin. Eur J Biochem 1994; 220: 283-292.
10. 10. Ahn A H, Yoshida M, Anderson M D S, et al. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. Proc Natl Acad Sci USA 1994; 91: 4446-4450.
11. 11. Ahn A H, Kunkel L M K. Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol 1995; 128: 363-371.
12. 12. Ahn A, Feener C A, Gussoni E, Yoshida M, Ozawa E, Kunkel L M. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each binds to dystrophin and its relatives. J Biol Chem 1996; 271: 2724-2730.
13. 13. Hoffman, E P. The muscular dystrophies. In Rosenberg R N, Prusiner S B, DiMauro S, Barchi R L. Molecular and Genetic Basis of Neurologic Disease Newton, MA: Butterworth Heinemann 1996; (in press).
14. 14. Kloepfer H W, Talley C. Autosomal recessive inheritance of Duchenne-type muscular dystrophy. Ann Hum Genet 1958; 22: 138-143.
15. 15. Beckmann J S, Richard I, Hillaire D, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci 1991: 312; 141-148.
16. 16. Ben Othmane K, Ben Hamida M, Pericak-Vance M A, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet 1992; 2: 315-317.
17. 17. El Kerch F, Sefiani A, Azibi K, et al. Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy (SCARMD) in Morocco indicates genetic homogeneity of the disease in North Africa. J Med Genet 1994; 31: 342-343.
18. 18. Allamand V, Broux O, Bourg N, et al. Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolated (Amish) and evidence for a new locus. Hum Molec Genet 1995; 4: 459-463.
19. 19. Hoffman E P, Brown R H, Kunkel L M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928.
20. 20. Koenig M, Hoffman E P, Bertelson C J, Monaco A P, Feener C, Kunkel L M. 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.
21. 21. Emery A E H. Duchenne muscular dystrophy. New York; Oxford University Press, 1993; pp. 91-97.
22. 22. Hoffman E P, Fischbeck K H, Brown R H, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988; 318: 1363-1368.
23. 23. Hoffman E P, Kunkel L M, Angelini C, Clarke A, Johnson M, Harris J B. Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology 1989; 39: 1011-1017.
24. 24. Griggs R C, Mendell J R, Miller R G. Evaluation and treatment of myopathies. Philadelphia: Davis, 1995: 128-131.
25. 25. Bushby K S, Beckmann J S. The limb-girdle muscular dystrophies - proposal for a new nomenclature. Neuromusc Disord 1995; 5: 337-343.
26. 26. Roberds S L, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78: 625-633.
27. 27. Piccolo F, Roberds S L, Jeanpierre M, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 1995; 19: 243-245.
28. 28. Ljunggren A, Duggan D J, McNally E, et al. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol 1995; 38: 367-372.
29. 29. Kawai H, Akaike M, Endo T, et al. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. J Clin Invest 1995; 96: 1202-1207.
30. 30. Passos-Bueno M R, Moreira E S, Roberds, S L, et al. Mild autosomal recessive muscular dystrophy linked to the adhalin gene. Hum Molec Genet. 1995; 4: 1163-1168.
31. 31. Bonnemann, C G, Modi R, Noguchi S, et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995; 11: 266-272.
32. 32. Lim L E, Duclos F, Broux O, et al. β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995; 11: 257-265.
33. 33. Noguchi S, McNally E M, Ben Othmane K, et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995; 270: 819-822.
34. 34. Duggan D J, Fanin M, Pegoraro E, Angelini C, Hoffman E P. α-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 Sci 1996; 140: 30-39.
35. 35. Fanin M, Martinello F, Duggan D J, et al. A severe case of Duchenne-like muscular dystrophy due to a mutation in the α-sarcoglycan (adhalin) gene. Basic Appl Myol 1996; 6: 95-100.
36. 36. Duggan D J, Gorospe J R, Fanin M, et al. Primary α-, β-, and γ-sarcoglycanopathy in muscular dystrophy patients with normal dystrophin findings. (submitted for publication).
37. 37. Nigro V, Piluso G, Belsito A, et al. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 1996a; 5: 1179-1186.
38. 38. Nigro V, Moreira E S, Piluso G, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nature Genet 1996b; 13: 195-198.
39. 39. McNally E M, Passos-Bueno M R, Bönnemann C G, et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet 1996; 59: 1040-1047.
40. 40. McNally E, Duggan D, Gorospe J R, et al. Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy. Hum Mol Genet (in press).
41. 41. Duggan D J, Manchester D, Stears K P, Mathews D J, Hart C, Hoffman E P. Mutations in the δ-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). (submitted for publication).
42. 42. Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983; 6: 469-480.
43. 43. Ben Jelloun-Dellagi S, Chaffer P, Hentati F, et al. Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy. Neurology 1990; 40: 1903.
44. 44. Matsumura K, Tome F M S, Collin H, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992; 359: 320-322.
45. 45 Mizuno Y, Yoshida M, Yamamoto H, Hirai S, Ozawa E. Distribution of dystrophin isoforms and dystrophin-associated proteins 43DAG (A3a) and 50DAG (A2) in various monkey tissues. J Biochem 1993; 114: 936-941.
46. 46. McNally E M, Yoshida M, Mizuno Y, Ozawa E, Kunkel L M. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proc Natl Acad Sci USA 1994; 91: 9690-9694.
47. 47 Yamamoto H, Mizuno Y, Hayashi K, Nonaka I, Yoshida M, Ozawa E. Expression of dystrophin-associated proteins 35DAG (A4) and 50DAG (A2) is confined to striated muscles. J Biochem 1994; 115: 162 167.
48. 48. Online Mendelian Inheritance in Man, OMIN (TM). Johns Hopkins University, Baltimore, MD. MIM no. 600119:4/15/96, 600900:12/20/95, 253700:5/9/96, 601287:10/3/96. World Wide Web URL: http://www3. ncbi.blm.nih.gov/omim/.
49. 49. Roberds, S L, Anderson R D, Ibraghimov-Beskrovnaya O, Campbell K P. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J Biol Chem 1993: 268; 23739-23742.
50. 50. Yamamoto H, Hagiwara Y, Mizuno Y, Yoshida M, Ozawa E. Heterogeneity of dystrophin-associated proteins. J Biochem 1993; 114: 132-139.
51. 51. Matsumura K, Campbell K P. Deficiency of dystrophin-associated proteins: a common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies. Neuromusc Disord 1993; 3: 109-118.
52. 52. Azibi K, Bachner L, Beckmann J S, et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Molec Genet 1993; 2: 1423-1428.
53. 53. Ervasti J M, Ohlendieck K, Kahl S D, Gaver M G, Campbell K P. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 1990; 345: 315-319.
54. 54. Ohlendieck K, Matsumura K, Ionasescu V V, et al. Duchenne muscular dystrophy: deficiency of dystrophin-associated glycoproteins in the sarcolemma. Neurology 1993; 43: 795-800.
55. 55. Mizuno Y, Yoshida M, Nonaka I, Hirai S, Ozawa O. Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins from patients with Duchenne muscular dystrophy. Muscle Nerve 1994; 17: 206-216.
56. 56. Matsumura K, Nonaka I, Campbell K P. Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet 1993; 341: 521-522.
57. 57. Hayashi Y K, Mizuno Y, Yoshida M, Nonaka I, Ozawa E. Arahata K. The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. Neurology 1995; 45: 551-554.
58. 58. Vainzof M, Pavanello R C M, Pavanello-Filho I, et al. Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies. Am J Med Genet 1991; 39: 38-41.
59. 59. Mizuno Y, Noguchi S, Yamamoto H, et al. Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. Biochem Biophys Res Comm 1994; 203: 979-983.
60. 60. Matsumura K, Campbell K P. Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies. Muscle Nerve 1994; 17: 2-15.
61. 61. Allamand V, Leturcq F, Piccolo F, et al. Adhalin gene polymorphism. Hum Molec Genet 1994; 3: 2269.
62. 62. Ben Othmane K, Speer M C, Stauffer J, et al. Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C). Letter. Am J Hum Genet 1995; 57: 732-734.
63. 63. Kerem E, Corey M, Derem B, et al. The relation between genotype and phenotype in cystic fibrosis -analysis of the most common mutation (delta F508). N Engl J Med 1990; 323: 1517-1522.
64. 64. Sereth H, Shoshani T, Bashan N, Kerem B-S. Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis. Hum. Genet. 1993; 92: 289-295.
65. 65. Passos-Bueno M R, Moreira E S, Marie S K, et al. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. J Med Genet 1996; 33:97-102.