Fragile skeletal muscle attachments in dystrophic mutants of Caenorhabditis elegans: Isolation and characterization of the mua genes

Development

Volumn 127, Issue 6, 2000, Pages 1197-1207

  Plenefisch, John D ^a,b   Zhu, Xiaoping ^a,c   Hedgecock, Edward M ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b UNIVERSITY OF TOLEDO   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Caenorhabditis elegans; Mechanobullous skin disease; Muscular dystrophy; Nematode; Skeletal muscle; Skin

Indexed keywords

MYOSIN;

ALLELE; ARTICLE; CAENORHABDITIS ELEGANS; FEEDBACK SYSTEM; GENE ISOLATION; GENE LOCUS; GENE MUTATION; LOCOMOTION; MUSCLE DEVELOPMENT; MUSCLE FIBRIL; MUSCULAR DYSTROPHY; NONHUMAN; PRIORITY JOURNAL; SKELETAL MUSCLE;

ALLELES; ANIMALS; CAENORHABDITIS ELEGANS; CHROMOSOME MAPPING; FEEDBACK; FEMALE; GENE DOSAGE; GENES, HELMINTH; GENES, REPORTER; HELMINTH PROTEINS; MUSCLE CONTRACTION; MUSCLE DEVELOPMENT; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, ANIMAL; MUTATION; PHENOTYPE;

CAENORHABDITIS ELEGANS; INVERTEBRATA; VERTEBRATA;

EID: 0034079756     PISSN: 09501991     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (46)

1. Achanzar, W. E. and Ward, S. (1997). A nematode gene required for sperm vesicle fusion. J. Cell Sci. 110, 1073-1081.
2. Andra, K., Lassmann, H., Bittner, R., Shorny, S., Fassler, R., Propst, F. and Wiche, G. (1997). Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture. Genes Dev. 11, 3143-3156.
3. Bashir, R., Britton, S., Stachan, T., Keers, S., Vafiadaki, E., Lako, M., Richard, I., Marchand, S., Bourg, N., Argov, Z., et al. (1998). A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat. Genet. 20, 37-42.
4. Berthier, C. and Blaineau, S. (1997). Supramolecular organization of the subsarcolemmal cytoskeleton of adult skeletal muscle fibers. A review. Biol. Cell 89, 413-434.
5. Bessou, C., Giugia, J. B., Franks, C. J., Holden-Dye, L. and Segalat, L. (1998). Mutations in the Caenorhabditis elegans dystrophin-like gene dys1 lead to hyperactivity and suggest a link with cholinergic transmission. Neurogenetics 2, 61-72.
6. Bogaert, T. and Goh, P. Y. (1991). Positioning and maintenance of embryonic body wall muscle attachments in C. elegant requires the mup-1 gene. Development 111, 667-681.
7. Bonne, G., Di Barletta, M. R., Varnous, S., Becane, H. M., Hammouda, E. H., Merlini, L., Muntoni, F., Greenberg, C. R., Urtizberea, J. A., Duboc, D., et al. (1999). Mutations in the gene encoding lamin A/C couse autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. 21, 285-288.
8. Brais, B., Bouchard, J. P., Xie, Y. G., Rochefort, D. L., Chretien, N., Tome, F. M., Lafreniere, R. G., Rommens, J. M., Uyama, E., Nohira, O., et al. (1998). Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat. Genet. 18, 164-167.
9. Brenner, S. (1974). The genetics of Caenorhabditis elegans. Genetics 77, 71-94.
10. Brown, S. C. and Lucy, J. A. (1993). Dystrophin as a mechochemical transducer in skeletal muscles. BioEssays 15, 413-419.
11. Bucher, E. A. and Greenwald, I. S. (1991). A genetic mosaic screen of essential zygotic genes in Caenorhabditis elegans. Genetics 128, 281-292.
12. Campbell, K. P. (1995). Three muscular dystrophies: loss of cytoskeletal-extracellular matrix linkage. Cell 80, 675-679.
13. Durbeej, M., Henry, M. D. and Campbell, K. P. (1998). Dystroglycan in development and disease. Curr. Opin. Cell Biol. 10, 594-601.
14. Ellis, J. A., Craxton, M., Yates, J. R. and Kendrick-Jones, J. (1998). Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. J. Cell Sci. 111, 781-792.
15. Epstein, E. H. (1992). Molecular genetics of epidermolysis bullosa Science 256, 799-804.
16. Epstein, H. F. and Shakes, D. C. (eds). (1995). Caenorhabditis elegans: Modern Biological Analysis of an Organism. San Diego: Academic Press.
17. Epstein, H. F., Waterston, R. H. and Brenner, S. (1974). A mutant affecting the heavy chain of myosin in C. elegans. J. Mol. Biol. 90, 291-300.
18. Figarella-Branger, D., Beata Machado, A. M., Putzu, G. A., Malzac, P., Voelckel, M. A. and Pellisier, J. F. (1997). Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies. Acta Neuropathol. (Berlin) 94, 48-53.
19. Francis, G. R. and Waterston, R. H., (1985). Muscle organization in Caenorhabditis elegans: localization of proteins implicated in thin filament attachment and I-band organization. J. Cell Biol. 101, 1532-1549.
20. Francis, G. R. and Waterston, R. H., (1991). Muscle cell attachment in Caenorhabditis elegans. J. Cell Biol. 114, 465-479.
21. Fuchs, E. and Cleveland, D. W. (1998). A structural scaffolding of intermediate filaments in health and disease. Science 279, 514-519.
22. Hall, D. H. and Hedgecock, E. M. (1991). Kinesin-related gene unc-104 is required for axonal transport of synaptic vesicles in C. elegans. Cell 65, 837-847
23. Hodgkin, J., Papp, A., Pulak, R., Ambros, V. and Anderson, P. (1989). A new class of information supression in the nematode Caenorhabditis elegans. Genetics 123, 301-313.
24. Hodgkin, J. (1983). Male phenotypes and mating efficiency in C. elegans. Genetics 103, 43-64.
25. Horvitz, H. R., Brenner, S., Hodgkin, J. and Herman, R. K. (1979). A uniform genetic nomenclature for the nematode C. elegans. Mol. Gen. Genetics 175, 129-133.
26. Hresko, M. C., Williams, B. D. and Waterston, R. H. (1994). Assembly of body wall muscle and muscle cell attachment structures in Caenorhahditis elegans. J. Cell Bio. 124, 491-506.
27. Kobayashi, K., Nakahori, Y., Miyake, M., Matsumura, K., Kondo-Iida, E., Nomura, Y., Segawa, M., Yoshioka, M., Saito, K., Osawa, M, et al. (1998). An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394, 388-392.
28. Law, D. J. and Tidball, J. G. (1992). Dystrophin deficiency is associated with myotendinous junction defects in prenecrotic and fully regenerated skeletal muscle. Am. J. Pathol. 142, 1513-1523.
29. Liu, J., Aoki, M., Wu, C., Fardeau, M., Angelini, C., Serrano, C., Urtizea, Hentati, F., Hamida, M. B., Bohlega, S., et al. . (1998). Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat. Genet. 20, 31-36.
30. Mackenzie, J. M. Jr, Garcea, R. L., Zengel, J. M. and Epstein, H. F. (1978). Muscle development in Caenorhabditis elegans: mutants exhibiting retarded sarcomere construction. Cell 15, 751-762
31. McLean, W. H., Pulkkinen, L., Smith, F. J., Rugg, E. L., Lane, E. B., Bullrich, F., Burgeson, R. E., Amano, S., Hudson, D. L., Owaribe, K., et al. (1996). Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev. 10, 1724-1735
32. Meneely, P. M. and Herman, R. K. (1981). Suppression and function of X-linked lethal and sterile mutations in Caenorhabditis elegans. Genetics 97, 65-84
33. Minetti, C., Sotgia, F., Bruno, C., Scartezzini, P., Broda, P., Bado, M., Masetti, E., Mazzocco, M., Egeo, A., Donati, M. A., et al. (1998). Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. 18, 365-368.
34. Moerman, D. G. and Fire, A. (1997). Muscle: structure, function, and development. In C. elegans II (ed. D. L. Riddle, T. Blumenthal, B. J. Meyer and J. R. Priess), pp 417-470, Cold Spring Harbor Press, Plainview, NY.
35. Moerman, D. G., Hutter, H., Mullen G. P. and Schnabel R. (1996). Cell autonomous expression of perlecan and plasticity of cell shape in embryonic muscle of Caenorhabditis elegans. Dev. Biol. 173, 228-242
36. Okkema, P. G. and Fire, A. (1994). The Caenorhabditis elegans NK-2 class homeoprotein CEH-22 is involved in combinatorial activation of gene expression in pharyngeal muscle. Development 120, 2175-2186.
37. Ozawa, E., Noguchi, S., Mizuno, Y., Hagiwara, Y. and Yoshida, M. (1998). From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve 21, 421-438.
38. Petrof, B. J. (1998). The molecular basis of activity-induced muscle injury in Duchenne muscular dystrophy. Mol. Cell Biochem. 179, 111-123.
39. Petrof, B.J., Shrager, J. B., Sledman, H. H., Kelly, A. M. and Sweeney, H. L. (1993). Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl. Acad. Sci. USA 90, 3710-3714.
40. Richard, I., Broux, O., Allamand, V., Fougerousse, F., Chiannilkulchai, N., Bourg, N., Breguler, L., Devaud, C., Pasturuad, P., Roudaut, C., et al. (1995). Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81, 27-40.
41. Riddle, D. L., Blumenthal, T. B., Meyer, J. and Preiss, J. R., eds. (1997). C. elegant II. Plainview. NY: Cold Spring Harbor Laboratory Press.
42. Rogalski, T. M., Williams, B. D., Mullen, G. P. and Moerman, D. G. (1993). Products of the unc-52 gene in Caenorhabditis elegans are homologous to the core protein of the mammalian basement membrane heparan sulfate proteoglycan. Genes Dev. 7, 1471-1484.
43. Waterston, R. H., Thomson, J. N. and Brenner, S. (1980). Mutants with altered muscle structure in C. elegans. Dev. Biol. 77, 271-302.
44. Waterston, R. H. (1988). Muscle. In The Nematode Caenorhabditis elegans (ed. W. Wood), pp. 281-335. Cold Spring Harbor Press, Plainview, NY.
45. White, J. G., Southgate, E., Thomson, J. N. and Brenner, S. (1976). The structure of the ventral nerve cord of C. elegans. Phil. Trans. R. Soc. (London) 275B, 327-348.
46. Williams, B. D. and Waterston, R. H. (1994). Genes critical for muscle development and function in Caenorhabditis elegans identified through lethal mutations. J. Cell Biol. 124, 475-490.