Deficiency of the syntrophins and α-dystrobrevin in patients with inherited myopathy

Neuromuscular Disorders

Volumn 13, Issue 6, 2003, Pages 456-467

  Jones, K J ^a,b   Compton, A G ^a,b   Yang, N ^a   Mills, M A ^a   Peters, M F ^c   Mowat, D ^d   Kunkel, L M ^e   Froehner, S C ^f   North, K N ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c ASTRAZENECA   (United Kingdom)

^d SYDNEY CHILDREN'S HOSPITAL   (Australia)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Muscular dystrophy; Myopathy; Syntrophins; dystrobrevin

Indexed keywords

ALPHA DYSTROBREVIN; ALPHA SYNTROPHIN; BETA1 SYNTROPHIN; BETA2 SYNTROPHIN; ISOPROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DEATH; DISEASE SEVERITY; EXTERNAL OPHTHALMOPLEGIA; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEOTIDE SEQUENCE; PERINATAL PERIOD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; SARCOLEMMA; SKELETAL MUSCLE; SPECIES COMPARISON;

EID: 0042665465     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00066-X     Document Type: Article

References (54)

1. Hoffman E.P., Brown R.H.J., Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 51:1987;919-928.
2. Koenig M., Hoffman E.P., Bertelson C.J., Monaco A., Feener C., Kunkel L.M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organisation of the DMD gene in normal and affected individuals. Cell. 50:1987;509-517.
3. Roberds S.L., Leturcq F., Allamand V., et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 78:1994;625-633.
4. Helbling Leclerc A., Zhang X., Topaloglu H., et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 11:1995;216-218.
5. Bonnemann C.G., Modi R., Noguchi S., et al. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 11:1995;266-273.
6. Noguchi S., McNally E.M., Ben Othmane K., et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 270:1995;819-822. [see comments].
7. Nigro V., de Sa Moreira E., Piluso G., et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta sarcoglycan gene. Nat Genet. 14:1996;195-198.
8. Tome F.M., Evangelista T., Leclerc A., et al. Congenital muscular dystrophy with merosin deficiency. CR Acad Sci III. 317:1994;351-357.
9. Adams M.E., Butler M.H., Dwyer T.M., Peters M.F., Murnane A.A., Froehner S.C. Two forms of mouse syntrophin, a 58 kd dystrophin-associated protein, differ in primary structure and tissue distribution. Neuron. 11:1993;531-540.
10. Yang B., Ibraghimov Beskrovnaya O., Moomaw C.R., Slaughter C.A., Campbell K.P. Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression. J Biol Chem. 269:1994;6040-6044.
11. Ahn A.H., Freener C.A., Gussoni E., Yoshida M., Ozawa E., Kunkel L.M. 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. 271:1996;2724-2730.
12. Peters M.F., Adams M.E., Froehner S.C. Differential association of syntrophin pairs with the dystrophin complex. J Cell Biol. 138:1997;81-93.
13. Piluso G., Mirabella M., Ricci E., et al. Gamma 1- and gamma 2-syntrophins, two novel dystrophin-binding proteins localises in neuronal cells. J Biol Chem. 275:2000;15851-15860.
14. Ahn A.H., Kunkel L.M. Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol. 128:1995;363-371.
15. Dwyer T.M., Froehner S.C. Direct binding of Torpedo syntrophin to dystrophin and the 87 kDa dystrophin homologue. FEBS Lett. 375:1995;91-94.
16. Yang B., Jung D., Rafael J.A., Chamberlain J.S., Campbell K.P. Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin. J Biol Chem. 270:1995;4975-4978.
17. Brenman J.E., Chao D.S., Gee S.H., et al. Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha1-syntrophin mediated by PDZ domains. Cell. 84:1996;757-767.
18. Adams M.E., Kramarcy N.R., Krall S.P., et al. Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin. J Cell Biol. 150:2000;1385-1398.
19. Adams M.E., Mueller H.A., Froehner S.C. In vivo requirement of the alpha-syntrophin PDZ domain for the sarcolemmal localisation of nNOS and aquaporin-4. J Cell Biol. 155:2001;113-122.
20. Gee S.H., Madhavan R., Levinson S.R., Caldwell J.H., Sealock R., Froehner S.C. Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins. J Neurosci. 18:1998;128-137.
21. Hasegawa M., Cuenda A., Spillantini M.G., et al. Stress-activated protein kinase-3 interacts with the PDZ domain of alpha1-syntrophin. A mechanism for specific substrate recognition. J Biol Chem. 30:1999;12626-12631.
22. Lumeng C., Phelps S., Crawford G.E., Walden P.D., Barald K., Chamberlain J.S. Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases. Nat Neurosci. 2:1999;611-617.
23. Hogan A., Shepherd L., Chabot J., et al. Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localisation by PDZ interactions. J Biol Chem. 276:2001;26526-26533.
24. 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. 271:1996;7802-7810.
25. Blake D.J., Nawrotzki R., Loh N.Y., Gorecki D.C., Davies K.E. Beta-dystrobrevin, a member of the dystrophin-related protein family. Proc Nat Acad Sci USA. 95:1998;241-246.
26. Peters M.F., O'Brien K.F., Sadoulet-Puccio H.M., Kunkel L.M., Adams M.E., Froehner S.C. Beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. J Biol Chem. 272:1997;31561-31569.
27. Puca A.A., Nigro V., Piluso G., et al. Identification and characterization of a novel member of the dystrobrevin gene family. FEBS Lett. 425:1998;7-13.
28. Sadoulet-Puccio H.M., Rajala M., Kunkel L.M. Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Nat Acad Sci USA. 94:1997;12413-12418.
29. Ambrose H.J., Blake D.J., Nawrotzki R.A., Davies K.E. Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene. Genomics. 39:1997;359-369.
30. Peters M.F., Sadoulet-Puccio H.M., Grady M.R., et al. Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle. J Cell Biol. 142:1998;1269-1278.
31. Balasubramanian S., Fung E.T., Huganir R.L. Characterization of the tyrosine phosphorylation and distribution of dystrobrevin isoforms. FEBS Lett. 432:1998;133-140.
32. Nawrotzki R., Loh N.Y., Ruegg U.T., Davies K.E., Blake D.J. Characterisation of alpha dystrobrevin in muscle. J Cell Sci. 111:1998;2595-2605.
33. Enigk R.E., Maimone M.M. Differential expression and developmental regulation of a novel alpha-dystrobrevin isoform in muscle. Gene. 238:1999;479-488.
34. Sadoulet-Puccio H.M., Feener C., Schaid D.J., Thibodeau S.N., Middleton L., Kunkel L. The genomic organisation of human dystrobrevin. Neurogenetics. 1:1997;37-42.
35. Newey S.E., Benson M.A., Ponting C.P., Davies K.E., Blake D.J. Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex. Curr Biol. 10:2000;1295-1298.
36. Yoshida M., Hama H., Ishikawa-Sakurai M., et al. Biochemical evidence for association of dystrobrevin with the sarcolglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. Hum Mol Genet. 9:2000;1033-1040.
37. Benson M.A., Newey S.E., Martin-Rendon E., Hawkes R., Blake D.J. Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. J Biol Chem. 276:2001;24232-24241.
38. Newey S.E., Howman E.V., Ponting C.P., et al. Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle. J Biol Chem. 276:2001;6645-6655.
39. Mizuno Y., Puca A.A., O'Brien K.F., Beggs A.H., Kunkel L.M. Genomic organisation and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. BMC Genet. 2:2001;1471-2156.
40. Mizuno Y., Thompson T.G., Guyon J.R., et al. Desmuslin, an intermediate filament protein that interacts with alpha-dystrobrevin and desmin. Proc Nat Acad Sci USA. 98:2001;6156-6161.
41. Carr C., Fischbach G.D., Cohen J.B. A novel 87,000-Mr protein associated with acetylcholine receptors in Torpedoelectric organ and vertebrate skeletal muscle. J Cell Biol. 109:1989;1753-1764.
42. Kameya S., Miyagoe Y., Nonaka I., et al. Alpha 1-syntrophin gene disruption results in the absence of neuronal-type nitric oxide synthase at the sarcolemma but does not induce muscle degeneration. J Biol Chem. 274:1999;2193-2200.
43. Zhou H., Grady R.M., Sanes J.R. Muscular dystrophy and impaired aggregation of acetylcholine receptors in alpha-dystrobrevin deficient mutant mice. Soc Neurosci. 1998;608.2. [Abstract].
44. Metzinger L., Blake D.J., Squier M.V., et al. Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. Hum Mol Genet. 6:(7):1997;1185-1191.
45. Ichida F., Tsubata S., Bowles K.R., et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 103:2001;1256-1263.
46. Grady R.M., Grange R.W., Lau K.S., et al. Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies. Nat Cell Biol. 1:1999;215-220.
47. Ohlendieck K., Campbell K.P. Dystrophin associated proteins are greatly reduced in skeletal muscle from mdx mice. J Cell Biol. 115:1991;1685-1694.
48. Grady R.M., Zhou H., Cunningham J.M., Henry M.D., Campbell K.P., Sanes J.R. Maturation and maintenance of the neuromuscular synapse: genetic evidence for roles of the dystrophin-glycoprotein complex. Neuron. 25:2000;279-293.
49. Bredt D.S. Knockout signalling of the dystrophin complex. Nat Cell Biol. 1:1999;E89-E91.
50. Milasin J., Muntoni F., Severini G.M., et al. A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet. 5:1996;73-79.
51. Muntoni F., Cau M., Ganau A., et al. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. NEJM. 329:1993;921-925.
52. Matsumura K., Tome F.M., Collin H., et al. Deficiency of the 50k dystrophin associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature. 359:1992;320-322.
53. Piccolo F., Roberds S.L., Jeanpierre M., et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet. 10:1995;243-245.
54. Muntoni F., Brockington M., Blake D.J., Torelli S., Brown S.C. Defective glycosylation in muscular dystrophy. Lancet. 360:(9343):2002;1419-1421.