Dystrophin

Dystrophin

A 410kd protein that connects the cortical actin cytoskeleton to a glycoprotein complex at the cell membrane of muscle and nerve cells. The protein is just one of the products of a huge gene in which mutations produce Duchennes and Beckers muscular dystrophy.

Steve Winder's Lab in Glasgow Muscular Dystrophy (these pages)

References:-

Byers, T. J., Husain-Chishti, A., Dubreuil, R. R., Branton, D. & Goldstein, L. S. B. (1989) Sequence similarity of the amino-terminal domain of Drosophila beta spectrin to alpha actinin and dystrophin., J. Cell Biol. 109:, 1633-1641.

Corrado, K., Mills, P. L. & Chamberlain, J. S. (1994) Deletion analysis of the dystrophin-actin binding domain, FEBS Lett. 344, 255-260.

Fabbrizio, E., Bonet-Kerrache, A., Leger, J. J. & Mornet, D. (1993) Actin-dystrophin interface, Biochemistry. 32, 10457-10463.

Noegel, A. A., Rapp, S., Lottspeich, F., Schleicher, M. & Stewart, M. (1989) The Dictyostelium gelation factor shares a putative actin binding site with a-actinins and dystrophin and also has a rod domain containing six 100-residue motifs that appear to have a cross-beta conformation, J. Cell Biol. 109, 607-618.

Jarrett, H. W. & Foster, J. L. (1995) Alternate binding of actin and calmodulin to multiple sites on dystrophin, J. Biol. Chem. 270, 5578-5586.

Winder, S. J. (1997) The membrane-cytoskeleton interface: the role of dystrophin and utrophin, J.Muscle Res.Cell Mot. 18, 617-629.

Rafael, J. A., Tinsley, J. M., Potter, A. C., Deconinck, A. E. & Davies, K. E. (1998) Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice, Nature Genetics. 19, 79-82.

Kahana, E. & Gratzer, W. B. (1995) Minimum folding unit of dystrophin rod domain, Biochemistry. 34, 8110-8114.

Rybakova, I. N., Amann, K. J. & Ervasti, J. M. (1996) A new model for the interaction of dystrophin with F-actin, J.Cell Biol. 135, 661-672.

Yuasa, K., Miyagoe, Y., Yamamoto, K., Nabeshima, Y.-I., Dickson, G. & Takeda, S. (1998) Effective restoration of dystrophin-associtaed proteins in vivo by adenovirus-mediated transfer of truncated dystrophin cDNAs, FEBS letters. 425, 329-336.

Rybakova, I. N. & Ervasti, J. M. (1997) Dystrophin-glycoprotein complex is monomeric and stabilizes actin filaments in vitro through a lateral assocation, J.Biol.Chem. 272, 28771-28778.

Howard, P. L., Klamut, H. J. & Ray, P. N. (1998) Identification of a novel actin binding site within the Dp71 dystrophin isoform, FEBS letters. 441, 337-341.

Keep, N. H., Norwood, F. L. M., Moores, C. A., Winder, S. J. & Kendrick-Jones, J. (1999) The 2.0Å structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin, J.Mol.Biol. 285, 1257-1264.

Winder, S. J., Gibson, T. J. & Kendrick-Jones, J. (1995) Dystrophin and utrophin: the missing links!, FEBS letters. 369, 27-33.

Ervasti, J. M. & Campbell, K. P. (1993) A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin., J.Cell Biol. 122, 809-823.

Araki, E., Nakamura, K., Nakao, K., Kameya, S., Kobayashi, O., Nonaka, I., Kobayashi, T. & Katsuki, M. (1997) Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchene muscular dystrophy, Biochem.Bipohys.Res.Comm. 238, 492-497.

D'Souza, V. N., Nguyen, T. M., Morris, G. E., Karges, W., Pillers, D.-A. M. & Ray, P. N. (1995) A novel dystrophin isoform is required for normal retinal electrophysiology., Hum.Mol.Gen. 4, 837-842.

Kahana, E., Marsh, P. J., Henry, A. J., Way, M. & Gratzer, W. B. (1994) Conformation and phasing of dystrophin structural repeats., J.Mol.Biol. 235, 1271-1277.

Koenig, M., Monaco, A. P. & Kunkel, L. M. (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein, Cell. 53, 219-228.

Galvagni, F., Lestingi, M., Cartocci, E. & Oliviero, S. (1997) Serum response factor and protein-mediated DNA bending contribute to transcription of dystrophin muscle-specific promotor., Mol.Cell.Biol. 17, 1731-1743.

Hoffman, E. P., Knudson, C. M., Campbell, K. P. & Kunkel, L. M. (1987) Subcellular fractionation of dystrophin to the triads of skeletal muscle., Nature. 330, 754-757.

Love, D. R., Hill, D. F., Dickson, G., Spurr, N. K., Byth, B. C., Marsden, R. F., Walsh, F. S., Edwards, Y. H. & Davies, K. E. (1989) An autosomal transcript in skeletal muscle with homology to dystrophin., Nature. 339, 55-58.

Giugia, J. B., Gieseler, K., Arpagus, M. & Ségalat, L. (1999) Mutations in the dystrophin-like dys-1 gene of Caenorhabditis elegans result in reduced acetylcholinesterase activity., FEBS letters.

Grady, R. M., Grange, R. W., Lau, K. S., Maimone, M. M., Nichol, M. C., Stull, J. T. & Sanes, J. R. (1999) Role for a-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies., Nature Cell Biol. 1, 215-220.

Gieseler, K., Abdel-Dayem, M. & Ségalat, L. (1999) In vitro interactions of Caenorhabditis elegans dystrophin with dystrobrevin and syntrophin., FEBS letters.

Méjean, C., Lebart, M.-C., Roustan, C. & Benyamin, Y. (1995) Inhibition of actin-dystrophin interaction by inositide phosphate., BBRC. 210, 152-158.

Way, M., Pope, B., Cross , R. A., Kendrick-Jones, J. & Weeds, A. G. (1992) The N-terminal domain of dystrophin binds F-actin, FEBS Lett. 301, 243-245.

Senter, L., Luise, M., Presotto, C., Betto, R., Teresi, A., Ceoldo, S. & Salviati, G. (1993) Interaction of dystrophin with cytoskeletal proteins: Binding to talin and actin., Biochem.Biophys.Res.Comm. 192, 899-904.

Senter, L., Ceoldo, S., Petrusa, M. M. & Salviati, G. (1995) Phosphorylation of dystrophin: Effects on actin binding., BBRC. 206, 57-63.

Peters, M. F., O'Brien, K. F., Sadoulet-Puccio, H. M., Kunkel, L. M., Adams, M. E. & Froehner, S. C. (1997) b-dystrobrevin, a new member of the dystrophin family, J.Biol.Chem. 272, 31561-31569.

Bonet-Kerrache, A., Fabbrizio, E. & Mornet, D. (1994) N-terminal domain of dystrophin, FEBS letters. 355, 49-53.

Hemmings, L., Kuhlman, P. A. & Critchley, D. (1992) Analysis of the actin-binding domain of a-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain, J. Cell Biol. 116, 1369-1380.

Grady, R. M., Teng, H., Nichol, M. C., Cunningham, J. C., Wilkinson, R. S. & Sanes, J. R. (1997) Skeletal and cardiac myopothies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy, Cell. 90, 729-738.

Porter, J. D., Rafael, J. A., Ragusa, R. J., Bruechner, J. K., Trickett, J. I. & Davies, K. E. (1998) The sparing of extracoular muscle in dystrophinopathy is lost in mice lacking utrophin and dystrophin., J.Cell Sci. 111, 1801-1811.

Deconinck, A. E., Rafael, J. A., Skinner, J. A., Brown, S. C., Potter, A. C., Metzinger, L., Watt, D. J., Dickson, J. G., Tinsley, J. M. & Davies, K. E. (1997) Utrophin-dystrophin -deficient mice as a model for duchenne muscular dystrophy., Cell. 90, 717-727.

Hoffman, E. P., Brown, R. H. & Kunkel, L. M. (1987) Dystrophin: The protein product of the Duchenne muscular dystrophy locus., Cell. 51, 919-928.

Ryder-Cook, A. S., Sicinski, P., Thomas, K., Davies, K. E., Worton, R. G., Barnard, E. A., Darlison, M. G. & Barnard, P. J. (1988) Localization of the mdx mutation within the mouse dystrophin gene., EMBO. 7, 3017-3021.

Guo, W.-X. A., Nichol, M. & Merlie, J. P. (1996) Cloning and expression of full length mouse utrophin: the differential association of utrophin and dystrophin with AChR clusters., FEBS letters. 398, 259-264.

Man, N. t., Thanh, L. T., Blake, D. J., Davies, K. E. & Morris, G. E. (1992) Utrophin, the autosomal homolgue of dystrophin, is widely-expressed and membrane-associated in cultured cell lines., FEBS letters. 313, 19-22.

Blake, D. J., Schofield, J. N., Zuellig, R. A., Górecki, D. C., Phelps, S. R., Barnard, E. A., Edwards, Y. H. & Davies, K. E. (1995) G-Utrophin, the autosomal homologue of dystrophin Dp116, is expressed in sensory ganglia and brain., PNAS. 92, 3697-3701.

Winder, S. J. (1996) Structure-function relationships in dystrophin and utrophin, Biochem.Soc.Trans. 24, 497-501.

Winder, S. J., Gibson, T. J. & Kendrick-Jones, J. (1996) Low probablility of dystrophin and utrophin coiled coil regions forming dimers., Biochem.Soc.Trans. 24, 280S.

Knudson, C. M., Hoffman, E. P., Kahl, S. D., Kunkel, L. M. & Campbell, K. P. (1988) Evidence for the assoication of dystrophin with the transverse tubular system in skeletal muscle., J.Biol.Chem. 263, 8480-8484.

Iwata, Y., Nakamura, H., Mizuno, Y., Yoshida, M., Ozawa, E. & Shigekawa, M. (1993) Defective assoication of dystrophin with sacrolemmal glycoproteins in the cardiomyopathic hamster heart., FEBS letters. 329, 227-231.

Straub, V., Ettinger, A. J., Durbeej, M., Venzke, D. P., Cutshall, S., Sanes, J. R. & Campbell, K. P. (1999) e-sarcoglycan replaces a-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex., J.Biol.Chem. 274, 27989-27996.

Koenig, M. & Kunkel, L. M. (1990) Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility., J.Biol.Chem. 265, 4560-4566.

Campbell, K. P. & Kahl, S. D. (1989) Association of dystrophin and an integral membrane glycoprotein., Nature. 338, 259-262.

Hoffman, E. P., Watkins, S. C., Slayter, H. S. & Kunkel, L. M. (1989) Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin., J.Cell Biol. 108, 503-510.

Fabbrizio, E., Bonet-Kerrache, A., Limas, F., Hugon, G. & Mornet, D. (1995) Dystrophin, the protein that promotes membrane resistance., Biochem.Biophys.Res.Comm. 213, 295-301.

Yeadon, J. E., Lin, H., Dyer, S. M. & Burden, S. J. (1991) Dystrophin is a component of the subsynaptic membrane., J.Cell Biol. 115, 1069-1076.

Sato, O., Nonomura, Y., Kimura, S. & Maruyama, K. (1992) Molecular shape of dystrophin., J.Biochem. 112, 631-636.

Madhavan, R. & Jarrett, H. W. (1994) Calmodulin-activated phosphorylation of dystrophin., Biochemistry. 33, 5797-5804.

Debleecker, J. L. & Engel, A. G. (1994) Myopathy with desmin excess .2. ectopic overexpression of multiple proteins (including dystrophin, gelsolin, ncam, and serin protease inhibitors) and congophilia., Neurology. 44, 346-347.

Khurana, T. S., Watkins, S. C. & Kunkel, L. M. (1992) The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain., J.Cell Biol. 119, 357-366.

J.A., P., Powaser, P. A., Elledge, S. J. & Caskey, C. T. (1994) Troponin T is capable of binding dystrophin via a leucine zipper., FEBS letters. 354, 183-186.

Ahn, A. H. & Kunkel, L. M. (1995) Syntrophin binds to an alternatively spliced exon of dystrophin., J.Cell Biol. 128, 363-371.

Mizuno, Y., Yoshida, M., Yamamoto, H., Hirai, S. & Ozawa, E. (1993) Disrtibution of dystrophin isoforms and dystrophin-associated proteins 43DAG (A3a) and 50DAG(A2) in various monkey tissues., J.Biochem. 114, 936-941.

Suzuki, A., Yoshida, M. & Ozawa, E. (1995) Mammalian a1-b1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH terminus., J.Cell Biol. 128, 373-381.

Hoffman, E. P. & Kunkel, L. M. (1989) Dystrophin abnormalities in Duchenne/Becker muscluar dystrophies., Neuron. 2, 1019-1029.

Monaco, A. P. (1989) Dystrophin, the protein product of the duchenne/becker muscular dystrophy gene., TIBs. 14, 412-415.

Crosbie, R. H., Heighway, J., Venzke, D. P., Lee, J. C. & Campbell, K. P. (1997) Sarcospan, the 25-kDa transmembranous component of the dystrophin-glycoprotein complex., J.Biol.Chem. 272, 31221-31224.

Dmytrenko, G. M., Pumplin, D. W. & Bloch, R. J. (1993) Dystrophin in a membrane skeletal network: localization and comparison to other proteins., J.Neuroscience. 13, 547-558.

Leszyk, J., Mornet, D., Audemard, E. & Collins, J. H. (1989) Amino acid sequence of a 15 kilodalton actin-binding fragment of turkey gizard caldesmon; similarity with dystrophin, tropomyosin and the tropomyosin-binding region of troponin T., Biochem.Biophys.Res.Comm. 160, 210-216.

Lemaire, C., Heilig, R. & Mandel, J. L. (1988) The chicken dystrophin cDNA: striking conservation of the C-terminal coding and the 3' untranslated regions between man and chicken., EMBO J. 7, 4157-4162.

Bonilla, E., Samitt, C. E., Miranda, A. F., Hays, A. P., Salviati, G., DiMauro, S., Kunkel, L. M., Hoffman, E. P. & Rowland, L. P. (1988) Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface., Cell. 54, 447-452.

Yamamoto, H., Hagiwara, Y., Mizuno, Y., Yoshida, M. & Ozawa, E. (1993) Heterogeneity of dystrophin-associated proteins., J.Biochem. 114, 132-139.

Ishiura, S., Arachata, K., Tsukahara, T., Koga, R., Anraku, H., Yamaguchi, M., Kikuchi, T., Nonaka, I. & Sugita, H. (1990) Antibody against the C-terminal portion of dystrophin crossreacts with the 400kDa protein in the pia mater of dystrophin-deficient mdx mouse brain., J.Biochem. 107, 510-513.

Corrado, K., Mills, P. L. & Chamberlain, J. S. (1994) Deletion analysis of the dystrophin-actin binding domain., FEBS letters. 344, 255-260.

Masuda, T., Fujimaki, N., Ozawa, E. & Ishikawa, H. (1992) Confocal laser microscopy of dystrophin localization in guinea pig skeletal muscle fibers., J.Cell Biol. 119, 543-548.

Pasternak, C., Wong, S. & Elson, E. L. (1995) Mechanical function of dystrophin in muscle cells., J.Cell Biol. 128, 355-361.

Nobile, C., Galvagni, F., Marchi, J., Roberts, R. & Vitiello, L. (1995) Genomic organisation of the human dystrophin gene across the major deletion hot spot and the 3' region., Genomics. 28, 97-100.

Blake, D. J., Tinsley, J. M., Davies, K. E., Knight, A. E., Winder, S. J. & Kendrick-Jones, J. (1995) Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: potentials for protein-protein interactions., TIBS. 20, 133-135.

Meng, H., Leddy, J. J., Frank, J., Holland, P. & Tuana, B. S. (1996) The association of cardiac dystrophin with myofibrils/Z-disc regions in cardiac muscle suggests a novel role in the contractile apparatus., J.Biol.Chem. 271, 12364-12371.

Belkin, A. M. & Burridge, K. (1995) Association of aciculin with dystrophin and utrophin, J. Biol. Chem. 270, 6328-6337.

Blake, D. J., Tinsley, J. M. & Davies, K. E. (1994) The emerging family of dystrophin-related proteins., Trends Cell Biol. 4, 19-23.

Norwood, F. L. M., Sutherland-Smith, A. J., Keep, N. H. & Kendrick-Jones, J. (2000) The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker Muscular Dystrophy., Structure. 8, 481-491.

Sweeney, H. L. & Barton, E. R. (2000) The dystrophin-associated glycoprotein complex: What parts can you do without?, PNAS. 97, 13464-13466.

Rando, T. A., Disatnik, M.-H. & Zhou, L. Z.-H. (2000) Rescue of dystrophin expression in mdx mouse muscle by RNA/DNA oligonucleotides., PNAS. 97, 5363-5368.

Zubrzycka-Gaarn, E. E., Bulman, D. E., Karpati, G., Burghes, A. H. M., Belfall, B., Klamut, H. J., Talbot, J., Hodges, R. S., Ray, P. N. & Worton, R. G. (1988) The duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle, Nature. 333, 466-469.

Renley, B. A., Rybakova, I. N., Amann, K. J. & Ervasti, J. M. (1998) Dytsrophin binding to nonmuscle actin, Cell Mot.Cytoskeleton. 41, 264-270.

Partridge, T. (1998) The 'Fantastic Voyage' of muscle progenitor cells, Nature Med. 4, 554-555.

Durbeej, M. & Campbell, K. P. (1999) Biochemical characterization of the epithelial dystroglycan complex., J.Biol.Chem. 274, 26609-26616.

Holt, K. H., Lim, L. E., Straub, V., Venzke, D. P., Duclos, F., Anderson, R. D., Davidson, B. L. & Campbell, K. P. (1998) Functional resue of the sarcoglycan complex in the BIO 14.6 hamster using s-sarcoglycan gene transfer., Mol.Cell. 1, 841-848.

Coral-Vazquez, R., Cohn, R. D., Moore, S. A., Hill, J. A., Weiss, R. H., Davisson, R. L., Straub, V., Barresi, R., Bansal, D., Hrstka, R. F., Williamson, R. & Campbell, K. P. (1999) Disruption of the sarcoglcan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy., Cell. 98, 465-474.

Djinovic-Carugo, K., Young, P., Gautel, M. & Saraste, M. (1999) Structure of the a-actinin rod: Molecular basis for cross-linking of actin filaments., Cell. 98, 537-546.

Brown, S. C., Fassati, A., Popplewell, L., Page, A. M., Henry, M. D., Campbell, K. P. & Dickson, G. (1999) Dystrophic phenotype induced in vitro by antibody blockade of muscle a-dystroglycan-laminin interaction., J.Cell Sci. 112, 209-216.

Viel, A. (1999) a-actinin and spectrin structures: an unfolding story, FEBS letters.

Davison, M. D. & Critchley, D. R. (1988) a-actinins and the DMD protein contain spectrin-like repeats., Cell. 52, 159-160.

Nudel, U., Robzyk, K. & Yaffe, D. (1988) Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain., Nature. 331, 635-638.

Elbrink, J., Malhotra, S. K. & Elleker, M. G. (1987) Duchenne muscular dystrophy: pathogenesis and pharmocology., Trends Pharm. 8, 109-113.

Durbeej, M., Henry, M. D. & Campbell, K. P. (1998) Dystroglycan in development and disease., Curr.Biol. 10, 594-601.

Holt, K. H. & Cambell, K. P. (1998) Assembly of the sarcoglycan complex., J.Biol.Chem. 273, 34667-34670.

Henry, M. D. & Campbell, K. P. (1999) Dystroglycan inside and out, Curr.Op.Cell Biol. 11, 602-607.

Hoffman, E. P., Monaco, A. P., Feener, C. C. & Kunkel, L. M. (1987) Conservation of the duchenne muscular dystrophy gene in mice and humans., Science. 238, 347-350.

Lev, A. A., Feener, C. C., Kunkel, L. M. & Brown Jr, R. H. (1987) Expression of the Duchenne's muscular dystrophy gene in cultured muscle cells., J.Biol.Chem. 262, 15817-15820.

Moser, H. (1984) Duchenne muscular dystrophy: Pathological aspects and genetic prevention., Hum.Genetics. 66, 17-40.

DiMario, J., Buffinger, N., Yamada, S. & Strohman, R. C. (1989) Fibroblast growth factor in the extracellular matrix of dystrophic (mdx) mouse muscle., Science. 244, 688-690.

Webster, C., Silberstein, L., Hays, A. P. & Blau, H. M. (1988) Fast muscle fibers are preferentially affected in Duchenne muscular dystrophy., Cell. 52, 503-513.

Nudel, U., Zuk, D., Einat, P., Zeelon, E., Levy, Z., Neuman, S. & Yaffe, D. (1989) Duchenne muscular dystrophy gene product is not identical in muscle and brain., Nature. 337, 76-78.

Bloom, T. (1995) Brain as weel as brawn?, Curr.Biol. 5, 338-341.

Lederfein, D., Levy, Z., Augier, N., Mornet, D., Morris, G., Fuchs, O., Yaffe, D. & Nudel, U. (1992) A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues., PNAS. 89, 5346-5350.