Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Nature Genetics

Volumn 20, Issue 1, 1998, Pages 31-36

  Liu, Jing ^a,k   Aoki, Masashi ^a   Illa, Isabel ^b   Wu, Chenyan ^c   Fardeau, Michel ^d   Angelini, Corrado ^e   Serrano, Carmen ^b   Andoni Urtizberea, J ^d   Hentati, Faycal ^f   Hamida, Mongi Ben ^f   Bohlega, Saeed ^g   Culper, Edward J ^g   Amato, Anthony A ^h   Bossie, Karen ^a   Oeltjen, Joshua ^a   Bejaoui, Khemissa ^a   McKenna Yasek, Diane ^a   Hosler, Betsy A ^a   Schurr, Erwin ⁱ   Arahata, Kiichi ^j   De Jong, Pieter J ^c   Brown Jr , Robert H ^a   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c ROSWELL PARK CANCER INSTITUTE   (United States)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITY OF PADOVA   (Italy)

^f EPS Charles Nicolle   (Tunisia)

^g KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^h UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

ⁱ MONTREAL GENERAL HOSPITAL   (Canada)

^j NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^k PhageTech   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DYSFERLIN; GENE PRODUCT; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 2P; CONTROLLED STUDY; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; LIMB GIRDLE MUSCULAR DYSTROPHY; MIYOSHI MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE TAGGED SITE; SKELETAL MUSCLE;

ADULT; AMINO ACID SEQUENCE; BLOTTING, NORTHERN; CLONING, MOLECULAR; FEMALE; GENE EXPRESSION; GENETIC MARKERS; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 17344365600     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1682     Document Type: Article

References (35)

1. Hoffman, E. Clinical and histopathological features of abnormalities of the dystrophin-based membrane cytoskeleton. Brain Pathol. 6, 49-61 (1996).
2. Brown, R.J. Dystrophin-associated proteins and the muscular dystrophies. Annu. Rev. Med. 48, 457-466 (1997).
3. Bonnemann, C., McNally, E. & Kunkel, L. Beyond dystrophin: current progress in the muscular dystrophies. Curr. Opin. Pediatr. 8, 569-582 (1996).
4. Miyoshi, M., Kawai, H., Iwasa, M., Kuska, K. & Nishino, H. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Brain 109, 31-54 (1986).
5. Bejaoui, K. et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-13. Neurology 45, 768-772 (1995).
6. Bejaoui, K. et al. Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. Neurogenetics 1, 189-196 (1998).
7. Bashir, R. et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum. Mol. Genet. 3, 455-457 (1994).
8. Bashir, R. et al. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 33, 46-52 (1996).
9. Passos-Bueno, M. et al. Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrohy gene (LGMD2B) in three families allows refinement of the candidate region. Genomics 27, 192-195 (1995).
10. Weiler, T. et al. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am. J. Hum. Genet. 59, 872-878 (1996).
11. Illarioshkin, S. et al. Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. Genomics 42, 345-348 (1997).
12. Liu, J. et al. Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. Genomics 49, 23-29 (1998).
13. Hudson, T. et al. An STS-based map of the human genome. Science 270, 1945-1954 (1995).
14. Hudson, T. et al. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 13, 622-629 (1992).
15. Gastier, J. et al. Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers. Hum. Mol. Genet. 4, 1829-1836 (1995).
16. Schuler, G. et al. A gene map of the human genome. Science 274, 540-546 (1996).
17. Kozak, M. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res. 15, 8125-8133 (1987).
18. Kozak, M. The scanning model for translation: an update. J. Cell Biol. 108, 229-241 (1989).
19. Argon, Y. & Ward, S. Caenorhabditis elegans fertilization-defective mutants with abnormal sperm. Genetics 96, 413-433 (1980).
20. Achanzar, W. & Ward, S. A nematode gene required for sperm vesicle fusion. J. Cell Sci. 110, 1073-1081 (1997).
21. Ward, S., Argon, Y. & Nelson, G. Sperm morphogenesis in wild-type and fertilization-defective mutants of Caenorhabditis elegans. J. Cell Biol. 91, 26-44 (1981).
22. Rizo, J. & Südhof, T. C2-domains, structure and function of a universal Ca+-binding domain. J. Biol. Chem. 273, 15882-15897 (1998).
23. Nishizuka, Y. The molecular heterogeneity of protein kinase C and its implications for cellular regulation. Nature 334, 661-665 (1988).
24. Orita, S. et al. Doc2: a novel brain protein having two repeated C2-like domains. Biochem. Biophys. Res. Comm. 206, 439-448 (1995).
25. Sakaguchi, G., Orita, S., Maeda, M., Igarashi, H. & Takai, Y. Molecular cloning of an isoform of Doc2 having two C2-like domains. Biochem. Biophys. Res. Comm. 217, 1053-1061 (1995).
26. Sudhof, T. & Rizo, J. Synaptotagmins: C2-domain proteins that regulate membrane traffic. Neuron 17, 379-388 (1996).
27. Henry, M. & Campbell, K. Dystroglycan: an extracellular matrix receptor linked to the cytoskeleton. Curr. Opin. Cell Biol. 8. 625-631 (1996).
28. Straub, V. & Campbell, K. Muscular dystrophies and the dystrophin-glycoprotein complex. Curr. Opin. Neurol. 10, 168-175 (1997).
29. Hayashi, Y. et al. Mutations in the integrin α7 gene cause congenital myopathy. Nature Genet. 19, 94-97 (1998).
30. Richard, I. et al. Mutations in the proteolytic gene calpain 3 cause limb girdle muscular dystrophy type 2A. Cell 81, 27-40 (1995).
31. Schon, E.A. & DiMauro, S. Mitochondrial DNA mutations and pathogenesis. J. Bioenerg. Biomembr. 29, 131-149.
32. Haravuori, H. et al. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am. J. Hum. Genet. 62, 620-626 (1998).
33. Sambrook, J., Fritsch, F. & Maniatis, T. Molecular Cloning: A Library Manual (Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 1989).
34. Benes, V., Kilger, C., Voss, H., Pääbo, S. & Ansorge, W. Direct primer walking on P1 plasmid DNA. Biotechniques 23, 98-100 (1997).
35. Aoki, M. et al. Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis. Ann. Neurol. 43, 645-653 (1998).