β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex (original) (raw)
Specht, L.A. & Kunkel, L.M. Duchenne and Becker muscular dystrophies. In The Molecular and Genetic Basis of Neurological Disease (eds Rosenberg, R.N., Prusiner S.B., DiMausro, S., Barchi, R.L & Kunkel, LM.) 613–631 (Butterworth-Heinemann, Boston, 1993). Google Scholar
Koenig, M., Monaco, A.P. & Kunkel, L.M. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell53, 219–226 (1988). ArticleCAS Google Scholar
Hoffman, E.P., Brown, R.J. & Kunkel, L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell51, 919–928 (1987). ArticleCAS Google Scholar
Campbell, K.P. & Kahl, S.D. Association of dystrophin and an integral membrane glycoprotein. Nature338, 259–262 (1989). ArticleCAS Google Scholar
Yoshida, M. & Ozawa, E. Glycoprotein complex anchoring dystrophin to sarcolemma. J. Biochem., Tokyo108, 748–752 (1990). ArticleCAS Google Scholar
Yamamoto, H., Hagiwara, Y., Mizuno, Y., Yoshida, M. & Ozawa, E. Heterogeneity of dystrophin-associated proteins. J. Biochem., Tokyo114, 132–139 (1993). ArticleCAS Google Scholar
Ervasti, J.M. & Campbell, K.P. Membrane organization of the dystrophin-glycoprotein complex. Cell66, 1121–1131 (1991). ArticleCAS Google Scholar
Ibraghimov-Beskrovnaya, O. et al. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature355, 696–702 (1992). ArticleCAS Google Scholar
Yoshida, M. et al. Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside. Eur. J. Biochem.222, 1055–1061 (1994). ArticleCAS Google Scholar
Ibraghimov-Beskrovnaya, O. et al. Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. Hum. molec. Genet.2, 1651–1657 (1993). ArticleCAS Google Scholar
Suzuki, A. et al. Molecular organization at the glycoprotein complex-binding site of dystrophin —Three dystrophin-associated proteins bind directly to the carboxy-terminal portion of dystrophin. Eur. J. Biochem.220, 283–292 (1994). ArticleCAS Google Scholar
Yoshida, M., Mizuno, Y., Nonaka, I. & Ozawa, E. A dystrophin-associated glycoprotein, A3a (one of 43DAG doublets), is retained in Duchenne muscular dystrophy muscle. J. Biochem., Tokyo114, 634–639 (1993). ArticleCAS Google Scholar
Ben Hamida, M., Fardeau, M. & Attia, N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle & Nerve6, 469–480 (1983). ArticleCAS Google Scholar
Ben Othmane, K. et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet.2, 315–317 (1992). ArticleCAS Google Scholar
EI Kerch, F. et al. Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in North Africa. J. med. Genet.31, 342–343 (1994). Article Google Scholar
Passos-Bueno, M.R. et al. Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. Hum. molec. Genet.2, 1945–1947 (1993). ArticleCAS Google Scholar
Fardeau, M. et al. 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. Paris316, 799–804 (1993). CASPubMed Google Scholar
Zatz, M. et al. Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy. J. Neurol. Sci.123, 122–128 (1994). ArticleCAS Google Scholar
Passos-Bueno, M.R. et al. 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. molec. Genet4, 1163–1167 (1995). Article Google Scholar
Matsumura, K. et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature359, 320–322 (1992). ArticleCAS Google Scholar
Hayashi, Y.K. et al. The frequency of patients with 50 kDa dystrophin-associated glycoprotein (50 DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan. Neurology45, 551–554 (1995). ArticleCAS Google Scholar
Mizuno, Y. et al. Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. Biochem. biophys. Res. Commun.203, 979–983 (1994). ArticleCAS Google Scholar
McNally, E.M., Yoshida, M., Mizuno, Y., Ozawa, E. & Kunkel, L.M. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proc. natn. Acad. Sci. U.S.A.91, 9690–9694 (1994). ArticleCAS Google Scholar
Roberds, S.L. et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell78, 625–633 (1994). ArticleCAS Google Scholar
Piccolo, F. et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet.10, 243–245 (1995). ArticleCAS Google Scholar
Ljunggren, A. et al. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann. Neurol. (in the press).
Kozak, M. Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs. Nucl. Acids Res.12, 857–872 (1984). ArticleCAS Google Scholar
Roberds, S.L., Anderson, R.D., Ibraghimov-Beskrovnaja, O. & Campbell, K.P. Primary structure and expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J. biol. Chem.268, 23739–23742 (1993). CAS Google Scholar
Ahn, A.H. et al. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23–24. Proc. natn. Acad. Sci. U.S.A.91, 4446–4450 (1994). ArticleCAS Google Scholar
von Heijne, G. Protein targeting signals. Curr. Opin. Cell Biol.2, 604–608 (1990). ArticleCAS Google Scholar
Beck, J.S., Powers, L.S., Sheffield, V.C. & Murray, J.C. Chromosomal assignment using an efficient monochromosomal hybrid pooling strategy. Hum. Genet53, A 974 (1993). Google Scholar
Bellanné-Chantelot, C. et al. Mapping the whole human genome by fingerprinting yeast artificial chromosomes. Cell70, 1059–1068 (1992). Article Google Scholar
Gyapay, G. et al. The 1993–1994 Généthon human genetic linkage map. Nature Genet.7, 246–339 (1994). ArticleCAS Google Scholar
Bushby, K.M.D. & Beckmann, J.S. The limb-girdle muscular dystrophies —proposal for a new nomenclature. Neuromusc. Disord.4, 337–343 (1995). Article Google Scholar
Yamamoto, H. et al. Expression of dystrophin-associated protein 35DAG (A4) and 50DAG (A2) is confined to striated muscles. J. Biochem., Tokyo115, 162–167 (1994). ArticleCAS Google Scholar
Ahn, A.H. & Kunkel, L.M. The structural and functional diversity of dystrophin. Nature Genet3, 283–291 (1993). ArticleCAS Google Scholar
Tinsley, J.M., Blake, D.J., Zuellig, R.A., Davies, K.E. Increasing complexity of the dystrophin-associated protein complex. Proc. natn. Acad. Sci. U.S.A.91, 8307–6313 (1994). ArticleCAS Google Scholar
Lim, L.E. et al. β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genet.11, 257–265 (1995). ArticleCAS Google Scholar
Mizuno, Y. et al. Sarcoglycan complex is selectively lost in dystrophic hamster muscle. Am. J. Pathol.146, 530–536 (1995). CASPubMedPubMed Central Google Scholar
Ozawa, E. et al. Dystrophin-associated proteins in muscular dystrophy. Hum. molec. Genet. (in the press).
Ohlendieck, K. et al. Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology.43, 795–800 (1993). ArticleCAS Google Scholar
Mizuno, Y., Yoshida, M., Nonaka, I., Hirai, S. & Ozawa, E. Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy. Muscle & Nerve17, 206–216 (1994). ArticleCAS Google Scholar
Yoshida, M., Suzuki, A., Shimizu, T. & Ozawa, E. Proteinase-sensitive sites on isolated rabbit dystrophin. J. Biochem., Tokyo112, 433–439 (1992). ArticleCAS Google Scholar
Kawasaki, H., Emori, Y. & Suzuki, K. Production and separation of peptides from proteins stained with comassie brilliant blue R-250 after separation by sodium dodecyl sulfate-polyacrykamide gel electrophoresis. Anal. Biochem.191, 332–336 (1990). ArticleCAS Google Scholar
Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, 1989). Google Scholar
Altschul, S.F., Gish, W., Miller, W., Meyers, E.W. & Lipman, D.J. Basic local alignment search tool. J mol. Biol.215, 403–410 (1990). ArticleCAS Google Scholar
Dubois, B.L. & Naylor, S.L. Characterization of NIGMS Human/Rodent Somatic Cell Hybrid Mapping Panel 2 by PCR. Genomics16, 315–319 (1993). ArticleCAS Google Scholar
Lichter, P. et al. High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science247, 64–69 (1990). ArticleCAS Google Scholar
Tarentino, A.L., Gomez, G.M. & Plummer, J.T.H. Deglycosylation of asparagine-linked glycans by peptide:N-glycosylase F. Biochem.24, 4665–4671 (1985). ArticleCAS Google Scholar
Hoffman, E.P., Arahata, K., Minetti, C., Bonilla, E. & Rowland, L.P. Dystrophinopathy in isolated cases of myopathy in females. Neurol.42, 967–975 (1992). ArticleCAS Google Scholar
Miller, S.A., Dykes, D.D. & Polesky, H.F. A simple salting out procedure for extracting DNA from human nucleated cells.Nucl. Acids Res.16, 1215 (1988). ArticleCAS Google Scholar