Molecular bases of autosomal recessive limb-girdle muscular dystrophies

Acta Myologica

Volumn 22, Issue SEPT., 2003, Pages 35-42

  Nigro, V ^a,b  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

Limb girdle muscular dystrophies; Sarcoglycan

Indexed keywords

CALPAIN 3; CONNECTIN; DYSFERLIN; PROTEIN; SARCOGLYCAN; TELETHONIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC LINKAGE; GEOGRAPHIC DISTRIBUTION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; PELVIS; SHOULDER GIRDLE;

DYSTROPHIN; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES;

EID: 0346216799     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (69)

1. Emery AE. The muscular dystrophies. Lancet. 2002;359:687-95.
2. Bonnemann CG, Finkel RS. Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2002;9:81-99.
3. Dalkilic I, Kunkel LM. Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Dev. 2003;13:231-8.
4. Hauser MA, Horrigan SK, Salmikangas P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000;9:2141-7.
5. Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-8.
6. Minetti C, Sotgia F, Bruno C, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998;18:365-8.
7. Messina DN, Speer MC, Pericak-Vance MA, McNally EM. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet. 1997;61:909-17.
8. Speer, MC, Vance, JM, Grubber, JM, et al. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am. J. Hum. Genet. 1999;64:556-62.
9. Palenzuela L, Andreu AL, Gamez J, et al. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology. 2003;61:404-6.
10. Zatz M, de Paula F, Starling A, Vainzof M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord. 2003;13:532-44.
11. Richard I, Broux O, Allamand V, et al. A novel mechanism leading to muscular dystrophy: Mutations in calpain 3 cause limb girdle muscular dystrophy type 2A. Cell 1995;81:27-40.
12. Bashir R, Britton S, Stratchan T, et al. A novel mammalian gene related to the C. elegans spermatogenesis factor fer-1 is mutated in patients with limb-girdle muscular dystrophy type 2B (LGMD2B). Nature Genet. 1998;20:37-42.
13. Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nature Genet. 1998;20:31-6.
14. Roberds SL, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994;78:625-33.
15. Lim LE, Duclos F, Allamand V et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genet 1995;11:257-65.
16. Bönnemann CG, Modi R, Noguchi S, et al. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet 1995;11:266-73.
17. Noguchi S, McNally EM, Ben Othmane K, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995;270:819-22.
18. 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 1996;5:1179-86.
19. Nigro V, Moreira ES, Piluso G, et al. Autosomal recessive limb-girdle muscular dystrophy (LGMD2F) is caused by a mutation in the delta-sarcoglycan gene. Nature Genet 1996;14:195-8.
20. Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-Girdle Muscular Dystrophy type 2G (LGMD 2G) is caused by mutations in the gene encoding the sarcomeric protein Telethonin. Nature Genet 2000;24:163-6.
21. Frosk P, Weiler T, Nylen E, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 2002;70:663-72.
22. Brockington M, Yuva Y, Prandini P, et al. 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;10:2851-9.
23. Hackman P, Vihola A, Haravuori H, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 2002;71:492-500.
24. Sorimachi H, Imajoh-Ohmi S, Emori Y, et al. Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle. J Biol Chem. 1989;264:20106-11.
25. Human Genome Browser Gateway at http://genome.ucsc. edu/cgi-bin/hgGateway?org=human
26. Sorimachi H, Suzuki K. The structure of calpain. J Biochem (Tokyo) 2001;129:653-64.
27. Richard I, Roudaut C, Marchand S, et al. Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice. J Cell Biol. 2000;151:1583-90.
28. Sorimachi H, Kinbara K, Kimura S, et al. Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J Biol Chem. 1995;270:31158-62.
29. Spencer MJ, Mellgren RL. Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology. Hum Mol Genet. 2002;11:2645-55.
30. Leiden Muscular Dystrophy pages at http://www.dmd.nl.
31. de Paula F, Vainzof M, Passos-Bueno MR, et al. Clinical variability in calpainopathy: what makes the difference? Eur J Hum Genet. 2002;10:825-32.
32. Fanin M, Pegoraro E, Matsuda-Asada C, et al. Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology. 2001;5:660-5.
33. Davis DB, Delmonte AJ, Ly CT, McNally EM. Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Hum Mol Genet. 2000;9:217-26.
34. Yasunaga S, Grati M, Cohen-Salmon M, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet. 1999;21:363-9.
35. Britton S, Freeman T, Vafiadaki E, et al. The third human FER-1-like protein is highly similar to dysferlin. Genomics 2000;68:313-21.
36. Rizo J, Sudhof TC. C2-domains, structure and function of a universal Ca2+-binding domain. J Biol Chem. 1998;273:15879-82.
37. Tokuoka H, Goda Y. Synaptotagmin in Ca2+-dependent exocytosis: dynamic action in a flash. Neuron 2003;38:521-4.
38. Anderson LV, Davison K, Moss JA, et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet. 1999;8:855-61.
39. Bansal D, Miyake K, Vogel SS, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003;423:168-72.
40. Weiler T, Bashir R, Anderson LV, et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet. 1999 May;8(5):871-7.
41. Engvall E, Wewer UM. The new frontier in muscular dystrophy research: booster genes. FASEB J. 2003;17:1579-84.
42. Matsuda C, Hayashi YK, Ogawa M, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet. 2001;10:1761-6.
43. Anderson LV, Harrison RM, Pogue R, et al. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord. 2000;10:553-9.
44. Bittner RE, Anderson LV, Burkhardt E, et al. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Nat Genet. 1999;23:141-2.
45. Kostek CA, Dominov JA, Miller JB. Up-regulation of MHC class I expression accompanies but is not required for spontaneous myopathy in dysferlin-deficient SJL/J mice. Am J Pathol. 2002;160:833-9.
46. Campanaro S, Romualdi C, Fanin M, et al. Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. Hum Mol Genet. 2002;11:3283-98.
47. Tagawa K, Ogawa M, Kawabe K, et al. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. J Neurol Sci. 2003;211:23-8.
48. Dickens NJ, Beatson S, Ponting CP. Cadherin-like domains in alpha-dystroglycan, alpha/epsilon-sarcoglycan and yeast and bacterial proteins. Curr Biol. 2002;12:R197-9.
49. McNally EM, Ly CT, Kunkel LM. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS Lett. 1998;422:27-32.
50. Wheeler MT, Zarnegar S, McNally EM. Related Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. Hum Mol Genet. 2002;11:2147-54.
51. Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet. 2001;29:66-9.
52. Nigro V, Okazaki Y, Belsito A, et al. Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 1997;6:601-8.
53. Hein S, Kostin S, Heling A, et al. The role of the cytoskeleton in heart failure. Cardiovasc Res. 2000;45:273-8
54. McNally E, Passos-Bueno MR, Bonnemann C, et al. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet 1996;59:1040-7.
55. Mayans O, van der Ven PF, Wilm M, et al. Structural basis for activation of the titin kinase domain during myofibrillogenesis. Nature. 1998;395:863-9
56. Knoll R, Hoshijima M, Hoffman HM et al. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002;111:943-55.
57. Reymond A, Meroni G, Fantozzi A, et al. The tripartite motif family identifies cell compartments. EMBO J. 2001;20:2140-51.
58. Fridell, RA, Harding, LS, Bogerd, et al. Identification of a novel human zinc finger protein that specifically interacts with the activation domain of lentiviral Tat proteins. Virology 1995;209:347-357.
59. Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394:388-92.
60. Brockington M, Blake DJ, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet. 2001;69:1198-209
61. Esapa CT, Benson MA, Schroder JE, et al. Functional requirements for fukutin-related protein in the Golgi apparatus. Hum Mol Genet. 2002;11:3319-31
62. Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 21. Neurology 2003;60:1246-51.
63. Mercuri E, Brockington M, Straub V, et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol. 2003;53:537-42
64. Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002;30:201-4.
65. Takada F, Vander Woude DL, et al. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A 2001;98:1595-600.
66. Thompson TG, Chan YM, Hack AA, et al. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol 2000;148:115-26.
67. Frey N and Olson EN (2002) Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. J Biol Chem 277, 13998-14004.
68. Ong LL, Lim AP, Er CP, et al. Kinectin-kinesin binding domains and their effects on organelle motility. J Biol Chem. 2000;275:32854-60.
69. Comi GP, Fortunato F, Lucchiari S, et al. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann. Neurol. 2001;50:202-7.