Role for α-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies

Nature Cell Biology

Volumn 1, Issue 4, 1999, Pages 215-220

  Grady, R Mark ^a   Grange, Robert W ^b   Lau, Kim S ^b   Maimone, Margaret M ^a,c   Nichol, Mia C ^a   Stull, James T ^b   Sanes, Joshua R ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROBREVIN; DYSTROPHIN; DYSTROPHIN ASSOCIATED PROTEIN; NEUROPEPTIDE;

ANIMAL; ANIMAL MUSCULAR DYSTROPHY; ARTICLE; BIOLOGICAL MODEL; C57BL MOUSE; CHEMISTRY; GENETICS; GENOTYPE; MOUSE; MOUSE MUTANT; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOLOGY; SIGNAL TRANSDUCTION; SKELETAL MUSCLE; X CHROMOSOME LINKED MUSCULAR DYSTROPHIC MOUSE;

ANIMALS; DYSTROPHIN; DYSTROPHIN-ASSOCIATED PROTEINS; GENOTYPE; MICE; MICE, INBRED C57BL; MICE, INBRED MDX; MICE, KNOCKOUT; MODELS, BIOLOGICAL; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, ANIMAL; MUTATION; NEUROPEPTIDES; PHENOTYPE; SIGNAL TRANSDUCTION;

EID: 0033175570     PISSN: 14657392     EISSN: None     Source Type: Journal    
DOI: 10.1038/12034     Document Type: Article

References (49)

1. Tinsley, J. M., Blake, D. J., Zuellig, R. A. & Davies, K. E. Increasing complexity of the dystrophin-associated protein complex. Proc. Natl Acad. Sci. USA 91, 8307-8313 (1994).
2. Straub, V. & Campbell, K. P. Muscular dystrophies and the dystrophin-glycoprotein complex. Curr. Opin. Neurol. 10, 168-175 (1997).
3. Sadoulet-Puccio, H. M. & Kunkel, L. M. Dystrophin and its isoforms. Brain Pathol. 6, 25-35 (1996).
4. Lim, L. E. & Campbell, K. P. The sarcoglycan complex in limb-girdle muscular dystrophy. Curr. Opin. Neurol. 11, 443-452 (1998).
5. Ozawa, E., Noguchi, S., Mizuno, Y., Hagiwara, Y. & Yoshida, M. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve 21, 421-438 (1998).
6. Cox, G. F. & Kunkel, L. M. Dystrophies and heart disease. Curr. Opin. Cardiol. 12, 329-343 (1997).
7. Engel, A. G., Yamamoto, M. & Fischbeck, K. H. in Myology (eds Engel, A. G. & Franzini-Armstrong, C.) 1133-1187 (McGraw-Hill, New York, 1994).
8. Jung, D., Yang, B. & Meyer, J. Identification and characterization of the dystrophin anchoring site on β-dystroglycan. J. Biol. Chem. 270, 27305-27310 (1995).
9. Rybakova, I. N., Amann, K. J. & Ervasti, J. M. A new model for the interaction of dystrophin with F-actin. J. Cell Biol. 135, 661-672 (1996).
10. Henry, M. D. & Campbell, K. P. Dystroglycan: an extracellular matrix receptor linked to the cytoskeleton. Curr. Opin. Cell Biol. 8, 625-631 (1996).
11. Pall, E. A., Bolton, K. M. & Ervasti, J. M. Differential heparin inhibition of skeletal muscle α-dystroglycan binding to laminins. J. Biol. Chem. 271, 3817-3821 (1996).
12. 2+ calmodulin binds to the carboxyl-terminal domain of dystrophin. J. Biol. Chem. 271, 6605-6610 (1996).
13. Iwata, Y., Pan, Y., Yoshida, T., Hanada, H. & Shigekawa, M. a-1-Syntrophin has distinct binding sites for actin and calmodulin. FEBS Lett. 423, 173-177 (1998).
14. Yang, B. et al. SH3 domain-mediated interaction of dystroglycan and Grb2. J. Biol. Chem. 270, 11711-11714 (1995).
15. Ahn, A. H. et al. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. J. Biol. Chem. 271, 2724-2730 (1996).
16. Peters, M. F., Adams, M. E. & Froehner, S. C. Differential association of syntrophin pairs with the dystrophin complex. J. Cell Biol. 138, 81-93 (1997).
17. Carr, C., Fischbach, G. D. & Cohen, J. B. A novel 87,000-Mr protein associated with acetylcholine receptors in Torpedo electric organ and vertebrate skeletal muscle. J. Cell Biol. 109, 1753-1764 (1989).
18. Wagner, K. R., Cohen, J. B. & Huganir, R. L. The 87K postsynaptic membrane protein from Torpedo is a protein-tyrosine kinase substrate homologous to dystrophin. Neuron 10, 511-522 (1993).
19. Yoshida, M. et al. Dystrophin-associated protein A0 is a homologue of the Torpedo 87K protein. FEBS Lett. 367, 311-314 (1995).
20. Sadoulet-Puccio, H. M., Khurana, T. S., Cohen, J. B. & Kunkel, L. M. Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. Hum. Mol. Genet. 5, 489-496 (1996).
21. Peters, M. F. et al. β-Dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. J. Biol. Chem. 272, 31561-31569 (1997).
22. Blake, D. J., Nawrotzki, R., Loh, N. Y., Gorecki, D. C. & Davies, K. E. β-Dystrobrevin, a member of the dystrophin-related protein family. Proc. Natl. Acad. Sci. USA 95, 241-246 (1998).
23. Puca, A. A. et al. Identification and characterization of a novel member of the dystrobrevin gene family. FEBS Lett. 425, 7-13 (1998).
24. Brenman, J. E. et al. Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and α1-syntrophin mediated by PDZ domains. Cell 84, 757-767 (1996).
25. Gee, S. H. et al. Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins. J. Neurosci. 18, 128-137 (1998).
26. Schultz, J. et al. Specific interactions between the syntrophin PDZ domain and the voltage-gated sodium channels. Nature Struct. Biol. 5, 19-24 (1998).
27. Balasubramanian, S., Fung, E. T. & Huganir, R. L. Characterization of the tyrosine phosphorylation and distribution of dystrobrevin isoforms. FEBS Lett. 432, 133-140 (1998).
28. Sadoulet-Puccio, H. M., Rajala, M. & Kunkel, L. M. Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc. Natl Acad. Sci. USA 94, 12413-12418 (1997).
29. Peters, M. F. et al. Differential membrane localization and intermolecular associations of α-dystrobrevin isoforms in skeletal muscle. J. Cell Biol. 142, 1269-1278 (1998).
30. Thomas, G. D. et al. Impaired metabolic modulation of alpha-adrenergic vasoconstriction in dystrophin-deficient skeletal muscle. Proc. Natl Acad. Sci. USA 95, 15090-15095 (1998).
31. Bredt, D. S. NO skeletal muscle derived relaxing factor in Duchenne muscular dystrophy. Proc. Natl Acad. Sci. USA 95, 14592-14593 (1998).
32. Lau, K. S. et al. Skeletal muscle contractions stimulate cGMP formation and attenuate vascular smooth muscle myosin phosphorylation via nitric oxide. FEBS Lett. 431, 71-74 (1998).
33. Blake, D. J., Nawrotzki, R., Peters, M. F., Froehner, S. C. & Davies, K. E. Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein. J. Biol. Chem. 271, 7802-7810 (1996).
34. DiMario, J. X., Uzman, A. & Strohman, R. C. Fiber regeneration is not persistent in dystrophic (mdx) mouse skeletal muscle. Dev. Biol. 148, 314-321 (1991).
35. Torres, L. F. & Duchen, L. W. The mutant mdx: inherited myopathy in the mouse. Morphological studies of nerves, muscles and end-plates. Brain 110, 269-299 (1987).
36. Grady, R. M. et al. Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy. Cell 90, 729-738 (1997).
37. Deconinck, A. E. et al. Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell 90, 717-727 (1997).
38. Matsuda, R., Nishikawa, A. & Tanaka, H. Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: evidence of apoptosis in dystrophin-deficient muscle. J. Biochem. 118, 959-964 (1995).
39. Straub, V., Rafael, J. A., Chamberlain, J. S. & Campbell, K. P. Animal models for muscular dystrophy show different patterns of sarcolemmal disruption. J. Cell Biol. 139, 375-385 (1997).
40. Brenman, J. E., Chao, D. S., Xia, H., Aldape, K. & Bredt, D. S. Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 82, 743-752 (1995).
41. Chang, W. J. et al. Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy. Proc. Natl Acad. Sci. USA 93, 9142-9147 (1996).
42. Thomas, G. D. & Victor, R. G. Nitric oxide mediates contraction-induced attenuation of sympathetic vasoconstriction in rat skeletal muscle. J. Physiol. (Lond.) 506, 817-826 (1998).
43. Huang, P. L., Dawson, T. M., Bredt, D. S., Snyder, S.H. & Fishman, M.C. Targeted disruption of the neuronal nitric oxide synthase gene. Cell 75, 1273-1280 (1993).
44. Metzinger, L. et al. Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. Hum. Mol. Genet. 6, 1185-1191 (1997).
45. Crosbie, R. H. et al. Mdx muscle pathology is independent of nNOS perturbation. Hum. Mol. Genet. 7, 823-829 (1998).
46. Chao, D. S., Silvagno F. & Bredt, D. S. Muscular dystrophy in mdx mice despite lack of neuronal nitric oxide synthase. J. Neurochem. 71, 784 (1998).
47. Kameya, S. et al. α1-Syntrophin gene disruption results in the absence of neuronal-typenitric-oxide synthase at the sarcolemma but does not induce muscle degeneration. J. Biol. Chem. 274, 2193-2200 (1999).
48. Ambrose, H. J., Blake, D. J., Nawrotski, R. A. & Davies, K. E. Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene. Genomics 39, 359 (1997)
49. Grady, R. M., Merlie, J. P. & Sanes, J. R. Subtle neuromuscular defects in utrophin-deficient mice. J. Cell Biol. 136, 871 (1997)