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Gene Review

SGCA  -  sarcoglycan, alpha (50kDa dystrophin...

Homo sapiens

Synonyms: 50 kDa dystrophin-associated glycoprotein, 50-DAG, 50DAG, A2, ADL, ...
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Disease relevance of SGCA


Psychiatry related information on SGCA

  • Two siblings with a congenital muscular dystrophy and severe mental retardation which was not due to dystrophin, merosin, or adhalin deficiency are described [6].
  • The possible association between phospholipase A2 gene and bipolar mood disorder was examined in 557 bipolar patients and 725 controls (all personally interviewed), recruited from seven countries (Belgium, Bulgaria, Croatia, Germany, Greece, Italy, and UK) [7].
  • We have found evidence of an allelic association between bipolar disorder and a marker at the pancreatic phospholipase A2 gene (PLA2A) in this region (p < or = 0.01) [8].

High impact information on SGCA


Chemical compound and disease context of SGCA

  • We report adhalin deficiency in 8 patients with clinically diagnosed muscular dystrophy, dystrophic histopathological features, high plasma creatine kinase levels, normal expression of dystrophin, and marked variability of symptoms [12].
  • The electrophoretic behavior of Thiocapsa roseopersicina hydrogenase on sodium dodecyl sulfate gels demonstrates that the protein exists in two active forms, A1 and A2, which may be interconverted [13].
  • The Leishmania donovani- inducible A2 gene regulatory system was used to differentially express in amastigotes two potential suicide genes: a truncated version of the L. donovani 3'-nucleotidase/nuclease expressed in the cytoplasm and the herpes simplex virus thymidine kinase gene [14].
  • RSV-F from A2- and B1/cp-52 (cp-52)-infected cell lysates, RSV-F derived from a recombinant vaccinia virus, and affinity-purified F protein all bound to and were specifically eluted from heparin columns [15].
  • The ability to bind Hib PS resided exclusively with those Fab fragments having A2 and containing an insertional arginine at the variable-joining junction [16].

Biological context of SGCA


Anatomical context of SGCA


Associations of SGCA with chemical compounds

  • The most frequently reported mutation, 229CGC>TGC (R77C) in exon 3 of SGCA, results in the substitution of arginine by cysteine [23].
  • Beta-dystroglycan of 43 kDa, together with the 50 kDa protein adhalin and three other dystrophin-associated glycoproteins of 25, 35 and 43 kDa form this sarcolemmal complex which binds to the cysteine-rich domain of dystrophin [24].
  • The potential energy surfaces of the three different positional isomers of diaminoguanidine (DAG1, DAG2, and DAG3) have been studied in detail, which suggest greater stability for DAG1 over the other isomers [25].
  • Dystrophin is associated with several novel sarcolemmal proteins, including a laminin-binding extracellular glycoprotein of 156 kD (alpha-dystroglycan) and a transmembrane glycoprotein of 50 kD (adhalin) [26].
  • RESULTS: A 2-week treatment with sodium butyrate induced LRP and conferred resistance to doxorubicin, vincristine, etoposide, gramicidin D, and paclitaxel (Taxol) in SW-620 cells [27].

Other interactions of SGCA


Analytical, diagnostic and therapeutic context of SGCA

  • In the present study, we examined the striated muscles of the dystrophic hamster with anti-A3b antibody in addition to anti-50DAG, anti-43DAG, anti-35DAG, anti-dystrophin, and anti-laminin antibodies by both immunohistochemistry and immunoblot analysis and found that 50DAG, A3b, and 35DAG are selectively lost [32].
  • This investigation was undertaken to test whether the epitopes of dystrophin, beta-dystroglycan and adhalin are closely associated with each other by using triple immunogold labelling electron microscopy on normal human skeletal myofibers [21].
  • Alpha-SG immunofluorescence analysis showed a positive staining pattern in 70% (80/115) of the families, a patchy pattern in 14% (16/115) and a negative pattern in 16% (19/115) of the families [3].
  • Sequence analysis of five tryptic peptides revealed that their sequences matched corresponding sequences of the A2 protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex [33].
  • Subsequent restriction enzyme analysis of cDNAs generated by PcR from 10 PlA1/A1, 5 PlA2/A2, and 3 PlA1/A2 individuals showed that Nci I digestion permitted clear discrimination between the PlA1 and PlA2 alleles of GPIIIa [34].


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  3. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. Vainzof, M., Passos-Bueno, M.R., Pavanello, R.C., Marie, S.K., Oliveira, A.S., Zatz, M. J. Neurol. Sci. (1999) [Pubmed]
  4. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Piccolo, F., Roberds, S.L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrié, A., Récan, D., Chaouch, M., Reghis, A. Nat. Genet. (1995) [Pubmed]
  5. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. Kawai, H., Akaike, M., Endo, T., Adachi, K., Inui, T., Mitsui, T., Kashiwagi, S., Fujiwara, T., Okuno, S., Shin, S. J. Clin. Invest. (1995) [Pubmed]
  6. Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings. Nashef, L., Lake, B.D., Schapira, A.H. J. Neurol. Neurosurg. Psychiatr. (1997) [Pubmed]
  7. Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case-control study. Dikeos, D.G., Papadimitriou, G.N., Souery, D., Del-Favero, J., Massat, I., Blackwood, D., Cichon, S., Daskalopoulou, E., Ivezic, S., Kaneva, R., Karadima, G., Lorenzi, C., Milanova, V., Muir, W., Nöthen, M., Oruc, L., Rietschel, M., Serretti, A., Van Broeckhoven, C., Soldatos, C.R., Stefanis, C.N., Mendlewicz, J. Psychiatr. Genet. (2006) [Pubmed]
  8. Genetic association between alleles of pancreatic phospholipase A2 gene and bipolar affective disorder. Dawson, E., Gill, M., Curtis, D., Castle, D., Hunt, N., Murray, R., Powell, J. Psychiatr. Genet. (1995) [Pubmed]
  9. Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. McNally, E.M., Bönnemann, C.G., Kunkel, L.M., Bhattacharya, S.K. N. Engl. J. Med. (1996) [Pubmed]
  10. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Bönnemann, C.G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E.M., Duggan, D.J., Angelini, C., Hoffman, E.P. Nat. Genet. (1995) [Pubmed]
  11. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Roberds, S.L., Leturcq, F., Allamand, V., Piccolo, F., Jeanpierre, M., Anderson, R.D., Lim, L.E., Lee, J.C., Tomé, F.M., Romero, N.B. Cell (1994) [Pubmed]
  12. Clinical heterogeneity of adhalin deficiency. Morandi, L., Barresi, R., Di Blasi, C., Jung, D., Sunada, Y., Confalonieri, V., Dworzak, F., Mantegazza, R., Antozzi, C., Jarre, L., Pini, A., Gobbi, G., Bianchi, C., Cornelio, F., Campbell, K.P., Mora, M. Ann. Neurol. (1996) [Pubmed]
  13. Structural rearrangements in active and inactive forms of hydrogenase from Thiocapsa roseopersicina. Kovács, K.L., Tigyi, G., Thanh, L.T., Lakatos, S., Kiss, Z., Bagyinka, C. J. Biol. Chem. (1991) [Pubmed]
  14. Inducible expression of suicide genes in Leishmania donovani amastigotes. Ghedin, E., Charest, H., Zhang, W.W., Debrabant, A., Dwyer, D., Matlashewski, G. J. Biol. Chem. (1998) [Pubmed]
  15. The fusion glycoprotein of human respiratory syncytial virus facilitates virus attachment and infectivity via an interaction with cellular heparan sulfate. Feldman, S.A., Audet, S., Beeler, J.A. J. Virol. (2000) [Pubmed]
  16. Polysaccharide binding potential of the human A2 or A18 kappa light chain homologues. Reason, D.C., Wagner, T.C., Tang, V.R., Moulton, K.D., Lucas, A.H. Infect. Immun. (1999) [Pubmed]
  17. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). Roberds, S.L., Anderson, R.D., Ibraghimov-Beskrovnaya, O., Campbell, K.P. J. Biol. Chem. (1993) [Pubmed]
  18. Phenotypic Correction of alpha-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector. Fougerousse, F., Bartoli, M., Poupiot, J., Arandel, L., Durand, M., Guerchet, N., Gicquel, E., Danos, O., Richard, I. Mol. Ther. (2007) [Pubmed]
  19. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. Romero, N.B., Tomé, F.M., Leturcq, F., el Kerch, F.E., Azibi, K., Bachner, L., Anderson, R.D., Roberds, S.L., Campbell, K.P., Fardeau, M. C. R. Acad. Sci. III, Sci. Vie (1994) [Pubmed]
  20. 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. Hayashi, Y.K., Mizuno, Y., Yoshida, M., Nonaka, I., Ozawa, E., Arahata, K. Neurology (1995) [Pubmed]
  21. Electron microscopic observations of triple immunogold labelling for dystrophin, beta-dystroglycan and adhalin in human skeletal myofibers. Inoue, M., Wakayama, Y., Murahashi, M., Shibuya, S., Jimi, T., Kojima, H., Oniki, H. Acta Neuropathol. (1996) [Pubmed]
  22. Dystrophin and the dystrophin-associated glycoprotein, beta-dystroglycan, co-localize in photoreceptor synaptic complexes of the human retina. Drenckhahn, D., Holbach, M., Ness, W., Schmitz, F., Anderson, L.V. Neuroscience (1996) [Pubmed]
  23. Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. Hackman, P., Juvonen, V., Sarparanta, J., Penttinen, M., Aärimaa, T., Uusitalo, M., Auranen, M., Pihko, H., Alén, R., Junes, M., Lönnqvist, T., Kalimo, H., Udd, B. Muscle Nerve (2005) [Pubmed]
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  25. Theoretical studies on electron delocalization in diaminoguanidine. Bharatam, P.V., Iqbal, P. Journal of computational chemistry. (2006) [Pubmed]
  26. Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin. Higuchi, I., Yamada, H., Fukunaga, H., Iwaki, H., Okubo, R., Nakagawa, M., Osame, M., Roberds, S.L., Shimizu, T., Campbell, K.P. J. Clin. Invest. (1994) [Pubmed]
  27. Multidrug resistance and the lung resistance-related protein in human colon carcinoma SW-620 cells. Kitazono, M., Sumizawa, T., Takebayashi, Y., Chen, Z.S., Furukawa, T., Nagayama, S., Tani, A., Takao, S., Aikou, T., Akiyama, S. J. Natl. Cancer Inst. (1999) [Pubmed]
  28. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Bashir, R., Strachan, T., Keers, S., Stephenson, A., Mahjneh, I., Marconi, G., Nashef, L., Bushby, K.M. Hum. Mol. Genet. (1994) [Pubmed]
  29. Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach. Comerlato, E.A., Scola, R.H., Werneck, L.C. Arquivos de neuro-psiquiatria. (2005) [Pubmed]
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  31. Characteristic expression of cell adhesion molecules in adhalin deficiency. Higuchi, I., Fukunaga, H., Motokura, F., Goto, T., Niiyama, N., Inose, M., Izumi, K., Ohkubo, R., Nakagawa, M., Arimura, K., Osame, M. J. Neurol. Sci. (1996) [Pubmed]
  32. Sarcoglycan complex is selectively lost in dystrophic hamster muscle. Mizuno, Y., Noguchi, S., Yamamoto, H., Yoshida, M., Nonaka, I., Hirai, S., Ozawa, E. Am. J. Pathol. (1995) [Pubmed]
  33. Purification and partial sequencing of the nuclear autoantigen RA33 shows that it is indistinguishable from the A2 protein of the heterogeneous nuclear ribonucleoprotein complex. Steiner, G., Hartmuth, K., Skriner, K., Maurer-Fogy, I., Sinski, A., Thalmann, E., Hassfeld, W., Barta, A., Smolen, J.S. J. Clin. Invest. (1992) [Pubmed]
  34. The human platelet alloantigens, PlA1 and PlA2, are associated with a leucine33/proline33 amino acid polymorphism in membrane glycoprotein IIIa, and are distinguishable by DNA typing. Newman, P.J., Derbes, R.S., Aster, R.H. J. Clin. Invest. (1989) [Pubmed]
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