A common haplotype associated with the Basque 2362AG → TCATCT mutation in the muscular calpain-3 gene

Human Biology

Volumn 76, Issue 5, 2004, Pages 731-741

  Cobo, Ana María ^a   Sáenz, Ametz ^a   Poza, Juan José ^a   Urtasun, Miguel ^a   Indakoetxea, Begoña ^a   Urtizberea, Jon Andoni ^b   De Munain, Adolfo López ^a   Calafell, Francesc ^c  

^a HOSPITAL DONOSTIA   (Spain)

^b Institut de Myologie   (France)

^c UNIVERSITAT POMPEU FABRA   (Spain)

Author keywords

Ancestral haplotype; Basque population; Calpain mutations; Calpain 3 gene (CAPN3); Limb girdle muscular dystrophy type 2A (LGMD2A); Microsatellite markers

Indexed keywords

CALPAIN 3; DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MUSCULAR DYSTROPHY; POLYMERASE CHAIN REACTION; PREVALENCE; SPAIN;

EID: 13844278203     PISSN: 00187143     EISSN: None     Source Type: Journal    
DOI: 10.1353/hub.2005.0002     Document Type: Article

References (35)

1. Allamand, V., O. Broux, I. Richard et al. 1995. Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval. Am. J. Hum. Genet. 56:1,417-1,450.
2. Baghdiguian, S., M. Martin, I. Richard et al. 1999. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A. Nat. Med. 5:503-511.
3. Baghdiguian, S., I. Richard, M. Martin et al. 2001. Pathophysiology of limb girdle muscular dystrophy type 2A: Hypothesis and new insights into the IκBα/NF-κB survival pathway in skeletal muscle. J. Mol. Med. 79:254-261.
4. Barbujani, G., and R.R. Sokal. 1990. Zones of sharp genetic change in Europe are also linguistic boundaries. Proc. Natl. Acad. Sci. USA 87:1,816-1,819.
5. Beckmann, J.S., I. Richard, D. Hillarie et al. 1991. A gene for limb girdle muscular dystrophy maps to chromosome 15 by linkage. C. R. Acad. Sci. Paris 132:141-148.
6. Bertranpetit, J., and F. Calafell. 1996. Genetic and geographical variability in cystic fibrosis: Evolutionary considerations. Ciba Found. Symp. 197:97-114.
7. Bertranpetit, J., J. Sala, F. Calafell et al. 1995. Human mitochondrial DNA variation and the origin of Basques. Ann. Hum. Genet. 59:63-81.
8. Brinkmann, B., M. Klintschar, F. Neuhuber et al. 1998. Mutation rate in human microsatellites: Influence of the structure and length of the tandem repeat. Am. J. Hum. Genet. 62:1,408-1,415.
9. Brockington, M., Y. Yuva, P. Prandini et al. 2001. 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. 10:2,851-2,859.
10. Bushby, K.M. 1999. The limb-girdle muscular dystrophies: Multiple genes, multiple mechanisms. Hum. Mol. Genet. 8:1,875-1,882.
11. Bushby, K.M., and J.S. Beckmann. 1995. The limb-girdle muscular dystrophies: Proposal for a new nomenclature. Neuromusc. Disord. 5:337-343.
12. Carvalho-Silva, D.R., F.R. Santos, M.H. Hutz et al. 1999. Divergent human Y-chromosome microsatellite evolution rates. J. Mol. Evol. 49:204-214.
13. Comas, D., F. Calafell, E. Mateu et al. 1997. Mitochondrial DNA variation and the origin of the Europeans. Hum. Genet. 99:443-449.
14. De Paula, F., M. Vainzof, M.R. Passos-Bueno et al. 2002. Clinical variability in calpainopathy: What makes the difference? Eur. J. Hum. Genet. 10:825-832.
15. Excoffier, L., and M. Slatkin. 1995. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol. Biol. Evol. 12:921-927.
16. Fardeau, M., D. Hillaire, C. Mignard et al. 1996. Juvenile limb-girdle muscular dystrophy: Clinical, histopathological, and genetic data from a small community living in the Réunion Island. Brain 119:295-308.
17. Frosk, P., T. Weiler, E. Nylen et al. 2002. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am. J. Hum. Genet. 70:663-672.
18. Gyapay, G., J. Morrissette, A. Vignal et al. 1994. The 1993-1994 Généthon human genetic linkage map. Nat. Genet. 7:246-339.
19. Hackman, P., A. Vihola, H. Haravuori et al. 2002. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am. J. Hum. Genet. 71:492-500.
20. Hurles, M.E., R. Veitia, E. Arroyo et al. 1999. Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism. Am. J. Hum. Genet. 65:1,437-1,448.
21. Moreira, E.S., T.J. Wiltshire, G. Faulkner et al. 2000. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat. Genet. 24:163-166.
22. Mortal, N., J. Bertranpetit, X. Estivill et al. 1994. Tracing the origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat. Genet. 7:169-175.
23. Pogoda, T.V., I.N. Krakhmaleva, N.A. Lipatova et al. 1999. High incidence of 550ΔA mutation of CAPN3 in LGMD2 patients from Russia. Hum. Mutat. 15:295.
24. Richard, I., L. Brenguier, P. Dinçer et al. 1997. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am. J. Hum. Genet. 60:1,128-1,138.
25. Richard, I., C. Roudaut, S. Marchand et al. 2000. Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IκBα/nuclear factor κB pathway perturbation in mice. J. Cell. Biol. 151:1,583-1,590.
26. Richard, I., C. Roudaut, A. Sáenz et al. 1999. Calpainopathy: A survey of mutations and polymorphisms. Am. J. Hum. Genet. 64:1,524-1,540.
27. Richards, M., V. Macaulay, E. Hickey et al. 2000. Tracing European founder lineages in the Near Eastern mtDNA pool. Am. J. Hum. Genet. 67:1,251-1,276.
28. Saillard, J., P. Forster, N. Lynnerup et al. 2000. mtDNA variation among Greenland Eskimos: The edge of the Beringian expansion. Am. J. Hum. Genet. 67:718-726.
29. Schneider, S., D. Rössli, and L. Excoffier. 2000. Arlequin, Vers. 2.000: A Software for Population Data Analysis. Geneva: Genetics and Biometry Laboratory, University of Geneva.
30. Sorimachi, H., S. Ishiura, and K. Suzuki. 1997. Structure and physiological function of calpains. Biochem. J. 328:721-732.
31. Sorimachi, H., Y. Ono, and K. Suzuki. 2000. Skeletal muscle-specific calpain, p94, and connectin/ titin: Their physiological functions and relationship to limb-girdle muscular dystrophy type 2A. Adv. Exp. Med. Biol. 48:383-395.
32. Tishkoff, S.A., A.J. Pakstis, G. Ruano et al. 2000. The accuracy of statistical methods for estimation of haplotype frequencies: An example from the CD4 locus. Am. J. Hum. Genet. 67:518-522.
33. Urtasun, M., A. Sáenz, C. Roudaut et al. 1998. Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). Brain 121:1,735-1,747.
34. Watterson, G.A., and H.A. Guess. 1977. Is the most frequent allele the oldest? Theor. Popul. Biol. 11:141-160.
35. Zatz, M., M. Vainzof, and M.R. Passos-Bueno. 2000. Limb-girdle muscular dystrophy: One gene with different phenotypes, one phenotype with different genes. Curr. Opin. Neurol. 13:511-517.