Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Nature Genetics

Volumn 24, Issue 2, 2000, Pages 163-166

  Moreira, Eloisa S ^a   Wiltshire, Tim J ^b   Faulkner, Georgine ^c   Nilforoushan, Antje ^d   Vainzof, Mariz ^a   Suzuki, Oscar T ^a   Valle, Giorgio ^e   Reeves, Roger ^b   Zatz, Mayana ^a   Passos Bueno, M Rita ^a   Jenne, Dieter E ^d  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^d MAX PLANCK INSTITUTE OF NEUROBIOLOGY   (Germany)

^e UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN; MUSCLE PROTEIN; SARCOGLYCAN; TELETHONIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 17Q; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MOLECULAR CLONING; MOLECULAR DYNAMICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SARCOMERE; SKELETAL MUSCLE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; EXONS; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; HUMANS; INTRONS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES; NUCLEAR FAMILY; PEDIGREE; PROMOTER REGIONS (GENETICS); SARCOMERES; SEQUENCE ALIGNMENT;

EID: 0033954004     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/72822     Document Type: Article

References (30)

1. Walton, J.N. & Gardner-Medwin, D. The muscular dystrophies. in Disorders of Voluntary Muscle (ed. Walton, J.) 519-568 (Churchill Livingstone, New York, 1988).
2. Beckmann, J.S. et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C. R. Acad. Sci. III 312, 141-148 (1991).
3. Bashir, R. et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum. Mol. Genet. 3, 455-457 (1994).
4. Ben Othmane, K. et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet. 2, 315-317 (1992).
5. Roberds, S.L. et al. Missense mutation in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 78, 625-633 (1994).
6. Lim, L.E. et al. β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genet. 11, 257-265 (1995).
7. Bönnemann, C.G. et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet. 11, 266-273 (1995).
8. Passos-Bueno, M.R., Moreira, E.S., Vainzof, M., Marie, S.K. & Zatz, M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum. Mol. Genet. 5, 815-820 (1996).
9. Moreira, E.S. et al. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am. J. Hum. Genet. 61, 151-159 (1997).
10. Weiler, T. et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am. J. Hum. Genet. 63, 140-147 (1998).
11. Richard, I. et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81, 27-40 (1995).
12. Bashir, R. et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genet. 20, 37-42 (1998).
13. Passos-Bueno, M.R., Vainzof, M., Moreira, E.S. & Zatz, M. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am. J. Med. Genet. 82, 392-298 (1999).
14. Noguchi, S. et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 270, 819-822 (1995).
15. Nigro, V. et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nature Genet 14, 195-198 (1996).
16. Ozawa, E. Dystrophin-associated proteins in muscular dystrophy. Hum. Mol. Genet. 4, 1711-1716 (1995).
17. Crosbie, R.H, Heighway, J., Venzke, D.P., Lee, J.C. & Campbell, K.P. Sarcospan, the 25-kD transmembrane component of the dystrophin-glycoprotein complex. J. Biol. Chem. 272, 31221-31224 (1997).
18. McNally, E.M. et al. Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy. Hum. Mol. Genet. 5, 1841-1847 (1996).
19. Bönnemann, C.G. et al. Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum. Mol. Genet. 5, 1953-1961 (1996).
20. Moreira, E.S. et al. A first missense mutation in the δ-sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. J. Med. Genet. 35, 951-953 (1998).
21. Valle, G. et al. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS Lett. 415, 163-168 (1997).
22. Mues, A., van der Ven, F.M., Young, P., Fürst, D.O. & Gautel, M. Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin. FEBS Lett. 428, 111-114 (1998).
23. Gregorio, C.C., Granzier, H., Sorimachi, H. & Labeit, S. Muscle assembly: a titanic achievement? Curr. Opin. Cell Biol. 11, 18-25 (1999).
24. Mayans, O. et al. Structural basis for activation of the titin kinase domain during myofibrillogenesis. Nature 395, 863-869 (1998).
25. Zatz, M., Vainzof, M., Passos-Bueno, M.R., Akiyama, J. & Marie, S.K.N. Autosomal recessive limb-girdle muscular dystrophies, in Handbook of Muscle Disease (ed. Russell, J.M.) 245-255 (Lane, London, 1996).
26. Vainzof, M. et al. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum. Mol. Genet. 5, 1963-1969 (1996).
27. Church, G.M. & Gilbert, W. Genomic sequencing. Proc. Natl Acad. Sci. USA 81, 1991-1995 (1984).
28. Lathrop, C.M., Lalouel, J.M., Juliev, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl Acad. Sci. USA 81, 3443-3446 (1984).
29. Budowle, B. et al. Analysis of the VNTR locus D1S80 by the PCR followed by high resolution PAGE. Am. J. Hum. Genet. 48, 137-144 (1991).
30. Beggs, A.H. et al. Cloning and characterization of two human skeletal muscle α-actinin genes located on chromossomes 1 and 11. J. Biol. Chem. 267, 9281-9288 (1992).