Bases moléculaires des dystrophies musculaires progressives à transmission autosomique récessive

Annales de l'Institut Pasteur / Actualités - Tập 7 - Trang 157-171 - 1996
Jean-Claude Kaplan1, Marc Jeanpierre1, Jon-Andoni Urtizberea2, Jacques S Beckmann3
1Inserm 129 et laboratoire de biochimie et génétique moléculaire, ICGM, hôpital Cochin, 75014 Paris, France
2Association française contre les myopathies, BP59, 91002 Évry cedex, France
3URA CNRS 1922 et Généthon, BP 60, 91002 Évry cedex, France

Tài liệu tham khảo

Erb, 1884, Ueber die « Juvenile Form » der progressiven Muskelatrophie ihre Beziehungen zur sogenannten Pseudohypertrophie der Muskeln, Dtsch Arch Klin Med, 34, 467 Walton, 1954, On the classification, natural history and treatment of the myopathies, Brain, 77, 169, 10.1093/brain/77.2.169 Emery, 1993 Landouzy, 1885, De la myopathie atrophique progressive, Rev Med, 5, 81 Landouzy, 1885, De la myopathie atrophique progressive, Rev Med, 5, 253 Emery, 1966, Unusual type of benign X-linked muscular dystrophy, J Neurol Neurosurg Psychiatr, 29, 338, 10.1136/jnnp.29.4.338 Ben Hamida, 1983, Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia, Muscle Nerve, 6, 469, 10.1002/mus.880060702 Monaco, 1988, Cloning of the Duchenne/Becker muscular dystrophy locus, Adv Hum Genet, 17, 61, 10.1007/978-1-4613-0987-1_3 Hoffman, 1989, Dystrophin abnormalities in Duchenne/Becker muscular dystrophy, Neuron, 2, 1019, 10.1016/0896-6273(89)90226-2 Ahn, 1993, The structural and functional diversity of dystrophin, Nature Genet, 3, 283, 10.1038/ng0493-283 Sicinski, 1989, The molecular basis of muscular dystrophy in the mdx mouse: a point mutation, Science, 244, 1578, 10.1126/science.2662404 Zubrzycka-Gaarn, 1988, The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle, Nature, 333, 466, 10.1038/333466a0 Arahata, 1988, Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide, Nature, 333, 861, 10.1038/333861a0 Campbell, 1989, Association of dystrophin and an integral membrane glycoprotein, Nature, 338, 259, 10.1038/338259a0 Ervasti, 1991, Membrane organization of the dystrophin-glycoprotein complex, Cell, 66, 1121, 10.1016/0092-8674(91)90035-W Yoshida, 1994, Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl β-D-glucoside, Eur J Biochem, 222, 1055, 10.1111/j.1432-1033.1994.tb18958.x Campbell, 1995, Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage, Cell, 80, 675, 10.1016/0092-8674(95)90344-5 Ozawa, 1995, Dystrophin-associated proteins in muscular dystrophy, Hum Mol Genet, 4, 11711, 10.1093/hmg/4.suppl_1.1711 Brenman, 1995, Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy, Cell, 82, 743, 10.1016/0092-8674(95)90471-9 Brenman, 1996, Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and α1-syntrophin mediated by PDZ domains, Cell, 84, 757, 10.1016/S0092-8674(00)81053-3 Petrof, 1993, Dystrophin protects the sarcolemma from stresses developed during muscle contraction, 90, 3710 Matsumura, 1992, Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle, Nature, 360, 588, 10.1038/360588a0 Love, 1993, Dystrophin and dystrophin-related proteins: a review of protein and RNA studies, Neuromusc Disord, 3, 5, 10.1016/0960-8966(93)90037-K Tinsley, 1996, Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene, Nature, 384, 349, 10.1038/384349a0 Ervasti, 1990, Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle, Nature, 345, 315, 10.1038/345315a0 Matsumura, 1993, Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking C-terminal domains of dystrophin, J Clin Invest, 92, 866, 10.1172/JCI116661 Matsumura, 1993, Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin, Am J Hum Genet, 53, 409 Matsumura, 1992, Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy, Nature, 359, 320, 10.1038/359320a0 Azibi, 1993, Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12, Hum Mol Genet, 2, 1423, 10.1093/hmg/2.9.1423 El Kerch, 1994, Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy (SCARMD) in Morocco indicates genetic homogeneity of the disease in North-Africa, J Med Genet, 31, 342, 10.1136/jmg.31.4.342 Roberds, 1993, Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin), J Biol Chem, 268, 23739, 10.1016/S0021-9258(20)80440-2 Fardeau, 1993, Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries, C R Acad Sci Paris, sér Sciences de la vie, 316, 799 Romero, 1994, Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency, C R Acad Sci Paris, 317, 70 Passos-Bueno, 1993, Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis, Hum Mol Genet, 2, 1945, 10.1093/hmg/2.11.1945 Mizuno, 1994, Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle, Biochem Biophys Res Comm, 203, 979, 10.1006/bbrc.1994.2278 Bushby, 1995, Report on the Thirtieth and Thirty-First ENMC International Workshops on the limb-girdle muscular dystrophies, Neuromusc Disord, 5, 337, 10.1016/0960-8966(95)00005-8 Urtizberea, 1996, Classification actuelle des dystrophies musculaires progressives, Ann Réadapt Méd Phys, 39, 143, 10.1016/0168-6054(96)80219-4 Ben Othmane, 1992, Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q, Nature Genet, 2, 315, 10.1038/ng1292-315 Roberds, 1994, Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy, Cell, 78, 625, 10.1016/0092-8674(94)90527-4 Noguchi, 1995, Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy, Science, 270, 819, 10.1126/science.270.5237.819 Lim, 1995, β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12, Nature Genet, 11, 257, 10.1038/ng1195-257 Bönnemann, 1995, β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex, Nature Genet, 11, 266, 10.1038/ng1195-266 Bönnemann, 1996, Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe lim-girdle muscular dytrophy type 2E (LGMD 2E), Hum Mol Genet, 5, 1953, 10.1093/hmg/5.12.1953 Nigro, 1996, Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein, Hum Mol Genet, 5, 1179, 10.1093/hmg/5.8.1179 Nigro, 1996, Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene, Nature Genet, 14, 195, 10.1038/ng1096-195 Fardeau, 1996, Juvenile limb-girdle muscular dystrophy, Brain, 119, 295, 10.1093/brain/119.1.295 Beckmann, 1991, A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage, C R Acad Sci Paris, 312, 141 Young, 1992, Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15, Genomics, 13, 1370, 10.1016/0888-7543(92)90074-3 Passos-Bueno, 1993, Evidence of genetic heterogeneity for the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families, J Med Genet, 30, 385, 10.1136/jmg.30.5.385 Jackson, 1968, Consanguinity and blood group distribution in an Amish isolate, Am J Hum Genet, 20, 522 Allamand, 1995, Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus, Hum Mol Genet, 4, 459, 10.1093/hmg/4.3.459 Weissenbach, 1992, A second-generation linkage map of the human genome, Nature, 359, 794, 10.1038/359794a0 Fougerousse, 1994, Mapping of a chromosome 15 region involved in Limb-Girdle Muscular Dystrophy, Hum Mol Genet, 3, 285, 10.1093/hmg/3.2.285 Richard, 1995, An STS map of the limb-girdle muscular dystrophy type 2A region, Mamm Genome, 6, 754, 10.1007/BF00354303 Allamand, 1995, Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a I-cM 15q15.1-q15.3, Am J Hum Genet, 56, 1 Sorimachi, 1989, Molecular cloning of a novel mammalian calcium-dependant protease distinct from both m- and mu- type, J Biol Chem, 264, 20106, 10.1016/S0021-9258(19)47225-6 Richard, 1995, Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A, Cell, 81, 1, 10.1016/0092-8674(95)90368-2 Beckmann, 1996, Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy, Curr Opinion Neurol, 9, 389, 10.1097/00019052-199610000-00013 Wang, 1989, Calmodulin-binding proteins as calpain substrates, Biochem J, 262, 693, 10.1042/bj2620693 Suzuki, 1990, Calcium activated neutral protease, Cell Struct Funct, 15, 1, 10.1247/csf.15.1 Croall, 1991, Calcium-activated neutral protease (calpain) system: structure, function, and regulation, Physiol Rev, 71, 813, 10.1152/physrev.1991.71.3.813 Sorimachi, 1994, New era of calpain research, FEBS Lett, 343, 1, 10.1016/0014-5793(94)80595-4 Ohno, 1989, Four genes for the calpain family locate on four different chromosomes, Cytogenet Cell Genet, 51, 1054 Emori, 1986, Gene structure of calcium-dependent protease retains the ancestral organization of the calcium-binding protein gene, FEBS Lett, 194, 249, 10.1016/0014-5793(86)80094-1 Sorimachi, 1993, Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle, J Biol Chem, 268, 10593, 10.1016/S0021-9258(18)82240-2 Sorimachi, 1995, Muscle-specific calpain, p94, responsible for limb-girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence, J Biol Chem, 270, 31158, 10.1074/jbc.270.52.31158 Piccolo, 1995, Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity, Nature Genet, 10, 243, 10.1038/ng0695-243 Jeanpierre, 1996, From adhalinopathies to alpha-sarcoglycanopathies, Neuromusc Disord, 6, 463, 10.1016/S0960-8966(96)00394-X Alloisio, 1993, Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C, Blood, 82, 1323, 10.1182/blood.V82.4.1323.1323 Carrié, 1997, Mutational diversity and hot spots in the α-sacoglycan gene in autosomal recessive muscular dystrophy (LGMD2D), J Med Genet, 10.1136/jmg.34.6.470 Ljunggren, 1995, Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin, Ann Neurol, 38, 367, 10.1002/ana.410380305 Kawai, 1995, Adhalin gene mutations in patients with autosomal recesssive childhood onset muscular dystrophy with adhalin deficiency, J Clin Invest, 96, 1202, 10.1172/JCI118152 Passos Bueno, 1995, A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy, Hum Mol Genet, 4, 1163, 10.1093/hmg/4.7.1163 McNally, 1996, Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation, Am J Hum Genet, 59, 1040 Ben Othmane, 1995, Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular distrophy (LGMD2C), Am J Hum Genet, 57, 732 Piccolo, 1996, A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India, Hum Mol Genet, 5, 2019, 10.1093/hmg/5.12.2019 Richard, 1997, Multipe independant molecular etiology for LGMD2A patients from various geographical origins, Am J Hum Genet Beckmann, 1996, The Réunion paradox and the digenic model, Am J Hum Genet, 59, 1400 Emery, 1991, Population frequencies of inherited neuromuscular diseases — a world survey, Neuromus Disord, 1, 19, 10.1016/0960-8966(91)90039-U Hayashi, 1995, The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: Immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin, Neurology, 45, 551, 10.1212/WNL.45.3.551 Stec, 1995, Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 families, J Med Genet, 32, 930, 10.1136/jmg.32.12.930 Van der Kooi, 1996, The clinical spectrum of limb girdle muscular dystrophy, Brain, 119, 1471, 10.1093/brain/119.5.1471 Passos-Bueno, 1996, Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families, J Med Genet, 33, 97, 10.1136/jmg.33.2.97 Eymard, 1997, Primary adhalinopathy (α-sarcoglycanopathy): clinical, pathological and genetic correlation in twenty patients with autosomal recessive muscular dystrophy, Neurology, 10.1212/WNL.48.5.1227 Rafael, 1996, Forced expression of dystrophin deletion constructs reveals structure-function correlations, J Cell Biol, 134, 93, 10.1083/jcb.134.1.93 Greenberg, 1994, Exogenous dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice, Nature Genet, 8, 340, 10.1038/ng1294-340 Bashir, 1994, A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2, Hum Mol Genet, 3, 455, 10.1093/hmg/3.3.455 Passos-Bueno, 1996, Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (ARLGMD) maps a sixth form to 5q33–34 (LGMD2F) and indicates that there is at least one more subtype of ARLGMD, Hum Mol Genet, 5, 815, 10.1093/hmg/5.6.815 McNolly, 1996, Mutations that disrupt the carboxyl-terminus of γ-sercoglycan cause muscular distrophy, Hum Mol Genet, 5, 1841, 10.1093/hmg/5.11.1841