Genomes and Genes
Gene Symbol: Sgca
Description: sarcoglycan, alpha (dystrophin-associated glycoprotein)
Alias: 50DAG, Asg, alpha-sarcoglycan, 50 kDa dystrophin-associated glycoprotein, adhalin, alpha-SG
- Duclos F, Straub V, Moore S, Venzke D, Hrstka R, Crosbie R, et al. Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J Cell Biol. 1998;142:1461-71 pubmed..b>Sgca-null mice developed progressive muscular dystrophy and, in contrast to other animal models for muscular dystrophy, ..
- Ettinger A, Feng G, Sanes J. epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. J Biol Chem. 1997;272:32534-8 pubmed..have identified a novel protein, epsilon-sarcoglycan, that shares 44% amino acid identity with alpha-sarcoglycan (adhalin)...
- Matsumura K, Ervasti J, Ohlendieck K, Kahl S, Campbell K. Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature. 1992;360:588-91 pubmed..The absence of dystrophin leads to a dramatic reduction of the dystrophin-associated proteins (156DAG, 59DAP, 50DAG, 43DAG and 35DAG) in the sarcolemma of patients with Duchenne muscular dystrophy and mdx mice...
- Kobuke K, Piccolo F, Garringer K, Moore S, Sweezer E, Yang B, et al. A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice. Hum Mol Genet. 2008;17:1201-13 pubmed publisher..Our study presents an unexpected difference in the behavior of a missense-mutated protein in mice versus human patients, and emphasizes the need to understand species-specific protein quality control systems. ..
- Jakubiec Puka A, Biral D, Krawczyk K, Betto R. Ultrastructure of diaphragm from dystrophic alpha-sarcoglycan-null mice. Acta Biochim Pol. 2005;52:453-60 pubmed..alpha-Sarcoglycan-null (Sgca-null) mice develop progressive muscular dystrophy similar to the human disorder...
- Delgado Olguin P, Hernández Hernández J, Salamanca F, Recillas Targa F, Coral Vazquez R. Identification of two E-boxes that negatively modulate the activity of MyoD on the alpha-sarcoglycan core promoter. Biochim Biophys Acta. 2008;1779:74-80 pubmed..Our results suggest that modulation of MyoD activity by E1, and particularly E2, contributes to the negative regulation of alpha-SG gene expression during myogenic differentiation. ..
- Bartoli M, Bourg N, Stockholm D, Raynaud F, Delevacque A, Han Y, et al. A mouse model for monitoring calpain activity under physiological and pathological conditions. J Biol Chem. 2006;281:39672-80 pubmed..Altogether, our results present evidence that CAFI mice could be a valuable tool in which to follow calpain activity at physiological levels and in disease states. ..
- Wheeler M, Zarnegar S, McNally E. Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. Hum Mol Genet. 2002;11:2147-54 pubmed..Together, these data demonstrate that zeta-sarcoglycan is an integral component of the sarcoglycan complex and, as such, is important in the pathogenesis of muscular dystrophy. ..
- Madhavan R, Jarrett H. Interactions between dystrophin glycoprotein complex proteins. Biochemistry. 1995;34:12204-9 pubmed..The cysteine-rich sequences of dystrophin predominantly bound adhalin (gp50) and to full length dystrophin suggesting that these sequences may also be important to dystrophin ..
- Crosbie R, Dovico S, Flanagan J, Chamberlain J, Ownby C, Campbell K. Characterization of aquaporin-4 in muscle and muscular dystrophy. FASEB J. 2002;16:943-9 pubmed..Taken together, our data demonstrate that AQP4 loss in skeletal muscle correlates with muscular dystrophy and is a common feature of pathogenesis. ..
- Hagiwara Y, Sasaoka T, Araishi K, Imamura M, Yorifuji H, Nonaka I, et al. Caveolin-3 deficiency causes muscle degeneration in mice. Hum Mol Genet. 2000;9:3047-54 pubmed..No apparent muscle degeneration was observed in heterozygous mutant mice, indicating that pathological changes caused by caveolin-3 gene disruption were inherited through the recessive form of genetic transmission. ..
- Song K, Scherer P, Tang Z, Okamoto T, Li S, Chafel M, et al. Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins. J Biol Chem. 1996;271:15160-5 pubmed..These results are consistent with previous immunoelectron microscopic studies demonstrating that dystrophin is localized to plasma membrane caveolae in smooth muscle cells. ..
- Laure L, Suel L, Roudaut C, Bourg N, Ouali A, Bartoli M, et al. Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling. FEBS J. 2009;276:669-84 pubmed publisher..The observation that p21(WAF1/CIP1) is upregulated, put in perspective with the effects of CARP on the fibre type, fits well with the idea that the mechanisms at stake might be required to oppose muscle remodelling in skeletal muscle. ..
- Blaauw B, Agatea L, Toniolo L, Canato M, Quarta M, Dyar K, et al. Eccentric contractions lead to myofibrillar dysfunction in muscular dystrophy. J Appl Physiol (1985). 2010;108:105-11 pubmed publisher..the gastrocnemius muscle of wild-type mice and three distinct models of muscle dystrophy: mdx, alpha-sarcoglycan (Sgca)-null, and collagen 6A1 (Col6a1)-null mice...
- Fernandez K, Serinagaoglu Y, Hammond S, Martin L, Martin P. Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts. Am J Pathol. 2010;176:416-34 pubmed publisher..Here we show that loss of either of two members of this complex, dystrophin in mdx mice or alpha sarcoglycan in Sgca(-/-) mice, results in the spontaneous development of muscle-derived embryonal rhabdomyosarcoma (RMS) ..
- Vignier N, Amor F, Fogel P, Duvallet A, Poupiot J, Charrier S, et al. Distinctive serum miRNA profile in mouse models of striated muscular pathologies. PLoS ONE. 2013;8:e55281 pubmed publisher..The differential expression of a few dysregulated miRNAs in the DMD mice was further evaluated in DMD patients, providing new candidates of circulating miRNA biomarkers for DMD. ..
- Rouillon J, Poupiot J, Zocevic A, Amor F, LÃ©ger T, García C, et al. Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies. Hum Mol Genet. 2015;24:4916-32 pubmed publisher..oligonucleotide-mediated exon-skipping in mdx mice and (2) stable restoration of Î±-sarcoglycan expression in KO-SGCA mice by systemic injection of a viral vector...
- Chen J, Skinner M, Shi W, Yu Q, Wildeman A, Chan Y. The 16 kDa subunit of vacuolar H+-ATPase is a novel sarcoglycan-interacting protein. Biochim Biophys Acta. 2007;1772:570-9 pubmed
- Chan Y, Bonnemann C, Lidov H, Kunkel L. Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol. 1998;143:2033-44 pubmed
- Danieli Betto D, Esposito A, Germinario E, Sandonà D, Martinello T, Jakubiec Puka A, et al. Deficiency of alpha-sarcoglycan differently affects fast- and slow-twitch skeletal muscles. Am J Physiol Regul Integr Comp Physiol. 2005;289:R1328-37 pubmedAlpha-sarcoglycan (Sgca) is a transmembrane glycoprotein of the dystrophin complex located at skeletal and cardiac muscle sarcolemma...
- Crosbie R, Lebakken C, Holt K, Venzke D, Straub V, Lee J, et al. Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex. J Cell Biol. 1999;145:153-65 pubmed..In addition, the SG- SPN subcomplex functions to stabilize alpha-dystroglycan to the muscle plasma membrane. Taken together, our data provide important information about assembly and function of the SG-SPN subcomplex. ..
- Patel N, Jannapureddy S, Hwang W, Chaudhry I, Boriek A. Altered muscle force and stiffness of skeletal muscles in alpha-sarcoglycan-deficient mice. Am J Physiol Cell Physiol. 2003;284:C962-8 pubmedAlpha-sarcoglycan (ASG) is a transmembrane protein of the dystrophin-associated complex, and absence of ASG causes limb-girdle muscular dystrophy...
- Beedle A, Nienaber P, Campbell K. Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. J Biol Chem. 2007;282:16713-7 pubmed..These data offer the first evidence of an FKRP complex in muscle and suggest that FKRP may influence the glycosylation status of dystroglycan from within the sarcolemmal dystrophin-glycoprotein complex. ..
- Cassano M, Biressi S, Finan A, Benedetti L, Omes C, Boratto R, et al. Magic-factor 1, a partial agonist of Met, induces muscle hypertrophy by protecting myogenic progenitors from apoptosis. PLoS ONE. 2008;3:e3223 pubmed publisher..Because of these features Magic-F1 represents a novel molecular tool to counteract muscle wasting in major muscular diseases such as cachexia or muscular dystrophy. ..
- Altomare C, Barile L, Rocchetti M, Sala L, Crippa S, Sampaolesi M, et al. Altered functional differentiation of mesoangioblasts in a genetic myopathy. J Cell Mol Med. 2013;17:419-28 pubmed publisher..e. it completely prevented development of skeletal muscle functional responses. We conclude that miRNA669a expression, ablated by ?SG deletion, may prevent functional differentiation of cMabs towards the skeletal muscle phenotype. ..
- Dellavalle A, Maroli G, Covarello D, Azzoni E, Innocenzi A, Perani L, et al. Pericytes resident in postnatal skeletal muscle differentiate into muscle fibres and generate satellite cells. Nat Commun. 2011;2:499 pubmed publisher..These data show that pericytes, resident in small vessels of skeletal muscle, contribute to its growth and regeneration during postnatal life. ..
- Fiaschi T, Tedesco F, Giannoni E, Diaz Manera J, Parri M, Cossu G, et al. Globular adiponectin as a complete mesoangioblast regulator: role in proliferation, survival, motility, and skeletal muscle differentiation. Mol Biol Cell. 2010;21:848-59 pubmed publisher..We conclude that adiponectin exerts several advantageous effects on mesoangioblasts, potentially valuable to improve their efficacy in cell based therapies of diseased muscles. ..
- Chen J, Shi W, Zhang Y, Sokol R, Cai H, Lun M, et al. Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting. Exp Cell Res. 2006;312:1610-25 pubmed..Our results therefore generate important information on the structure of the sarcoglycan complex and the molecular mechanisms underlying the effects of various sarcoglycan mutations in muscular dystrophies. ..
- Pambianco S, Giovarelli M, Perrotta C, Zecchini S, Cervia D, Di Renzo I, et al. Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1? Acetylation. Cell Rep. 2016;17:3010-3023 pubmed publisher..In conclusion, a transcriptional blockade of mitochondrial biogenesis occurred in LGMD-2D and could be recovered by TSA changing chromatin conformation, or it could be overcome by NO activating a mitochondrial salvage pathway. ..
- Roque Ramírez B, Chimal Monroy J, Canto P, Coral Vázquez R. Expression pattern of mRNA A and mRNA B of alpha sarcoglycan gene during mouse embryonic development and regulation of their expression by myogenic and cardiogenic transcription factors. Dev Dyn. 2014;243:1416-28 pubmed publisherType 2D limb-girdle muscular dystrophy (LGM2D) is a progressive disorder caused by mutations in the alpha sarcoglycan (?-SG) gene...
- Noguchi S, Wakabayashi E, Imamura M, Yoshida M, Ozawa E. Developmental expression of sarcoglycan gene products in cultured myocytes. Biochem Biophys Res Commun. 1999;262:88-93 pubmed..The discrepancy between the expression of the mRNAs and proteins of the sarcoglycan subunits in proliferating cells may be ascribed to rapid degradation of the protein. ..
- Nguyen A, Xiao B, Neppl R, Kallin E, Li J, Chen T, et al. DOT1L regulates dystrophin expression and is critical for cardiac function. Genes Dev. 2011;25:263-74 pubmed publisher..In addition, our study may open new avenues for the diagnosis and treatment of human heart disease. ..
- Delgado Olguin P, Recillas Targa F, Rosas Vargas H, Salamanca F, Coral Vazquez R. Partial characterization of the mouse alpha-sarcoglycan promoter and its responsiveness to MyoD. Biochim Biophys Acta. 2006;1759:240-6 pubmed..We conclude that the alpha-SG promoter is activated by MyoD, which interacts with TFIID and TFIIB in a protein complex differentially located at the distal promoter and around the proximal promoter during myogenic cell differentiation. ..
- Sambasivan R, Gayraud Morel B, Dumas G, Cimper C, Paisant S, Kelly R, et al. Distinct regulatory cascades govern extraocular and pharyngeal arch muscle progenitor cell fates. Dev Cell. 2009;16:810-21 pubmed publisher..These findings identify novel genetic networks that may provide insights into myopathies which often affect only subsets of muscles...
- Bartoli M, Gicquel E, Barrault L, Soheili T, Malissen M, Malissen B, et al. Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. Hum Mol Genet. 2008;17:1214-21 pubmed publisher..OMIM600119) is a genetic progressive myopathy that is caused by mutations in the human alpha-sarcoglycan gene (SGCA). Here, we have introduced in mice the most prevalent LGMD2D mutation, R77C...
- Xu R, DeVries S, Camboni M, Martin P. Overexpression of Galgt2 reduces dystrophic pathology in the skeletal muscles of alpha sarcoglycan-deficient mice. Am J Pathol. 2009;175:235-47 pubmed publisher..overexpression reduces the development of dystrophic pathology in the skeletal muscles of mice lacking alpha sarcoglycan (Sgca), a mouse model for limb girdle muscular dystrophy 2D...
- Galbiati F, Engelman J, Volonte D, Zhang X, Minetti C, Li M, et al. Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities. J Biol Chem. 2001;276:21425-33 pubmed..These results have clear mechanistic implications for understanding the pathogenesis of LGMD-1C at a molecular level. ..
- Allamand V, Donahue K, Straub V, Davisson R, Davidson B, Campbell K. Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice. Gene Ther. 2000;7:1385-91 pubmed
- Pessina P, Conti V, Tonlorenzi R, Touvier T, Meneveri R, Cossu G, et al. Necdin enhances muscle reconstitution of dystrophic muscle by vessel-associated progenitors, by promoting cell survival and myogenic differentiation. Cell Death Differ. 2012;19:827-38 pubmed publisher..Taken together, these data demonstrate that overexpression of necdin may be a crucial tool to boost therapeutic applications of MABs in dystrophic muscle. ..
- Pasteuning Vuhman S, Putker K, Tanganyika de Winter C, Boertje van der Meulen J, Van Vliet L, Overzier M, et al. Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F. PLoS ONE. 2017;12:e0182704 pubmed publisher..Implementing the TREAD-NMD standardized operating procedures, we here subjected LGMD2D (SGCA-null), LGMD2F (SGCD-null) and wild type (C57BL/6J) mice to five functional tests from the age of 4 to 32 weeks...
- Hanft L, Bogan D, Mayer U, Kaufman S, Kornegay J, Ervasti J. Cytoplasmic gamma-actin expression in diverse animal models of muscular dystrophy. Neuromuscul Disord. 2007;17:569-74 pubmed..These data suggest that elevated gamma(cyto)-actin is part of a compensatory cytoskeletal remodeling program that may partially stabilize dystrophic muscle in some cases where the dystrophin-glycoprotein complex is compromised...
- Montagna C, Di Giacomo G, Rizza S, Cardaci S, Ferraro E, Grumati P, et al. S-nitrosoglutathione reductase deficiency-induced S-nitrosylation results in neuromuscular dysfunction. Antioxid Redox Signal. 2014;21:570-87 pubmed publisher..These findings provide novel insights into the involvement of GSNOR and S-nitrosylation in neuromuscular atrophy and neuropathic pain that are associated with pathological states; for example, diabetes and cancer. ..
- Johnson E, Zhang L, Adams M, Phillips A, Freitas M, Froehner S, et al. Proteomic analysis reveals new cardiac-specific dystrophin-associated proteins. PLoS ONE. 2012;7:e43515 pubmed publisher..In addition, our findings support the existence of cardiac-specific functions of dystrophin and may guide studies into early triggers of cardiac disease in Duchenne and Becker muscular dystrophies. ..
- Wakabayashi Takai E, Noguchi S, Ozawa E. Identification of myogenesis-dependent transcriptional enhancers in promoter region of mouse gamma-sarcoglycan gene. Eur J Biochem. 2001;268:948-57 pubmed
- Cassano M, Dellavalle A, Tedesco F, Quattrocelli M, Crippa S, Ronzoni F, et al. Alpha sarcoglycan is required for FGF-dependent myogenic progenitor cell proliferation in vitro and in vivo. Development. 2011;138:4523-33 pubmed publisherMice deficient in ?-sarcoglycan (Sgca-null mice) develop progressive muscular dystrophy and serve as a model for human limb girdle muscular dystrophy type 2D...
- Liu L, Engvall E. Sarcoglycan isoforms in skeletal muscle. J Biol Chem. 1999;274:38171-6 pubmed
- Hernández Hernández J, Delgado Olguin P, Aguillón Huerta V, Furlan Magaril M, Recillas Targa F, Coral Vazquez R. Sox9 represses alpha-sarcoglycan gene expression in early myogenic differentiation. J Mol Biol. 2009;394:1-14 pubmed publisherb>Alpha sarcoglycan (alpha-SG) is highly expressed in differentiated striated muscle, and its disruption causes limb-girdle muscular dystrophy. Accordingly, the myogenic master regulator MyoD finely modulates its expression...
- Hack A, Groh M, McNally E. Sarcoglycans in muscular dystrophy. Microsc Res Tech. 2000;48:167-80 pubmed..Sarcoglycan may be an independent signaling or regulatory module whose position in the membrane is determined by dystrophin but whose function is carried out independent of the dystrophin-dystroglycan-laminin axis. ..
- Quattrocelli M, Palazzolo G, Floris G, Schoffski P, Anastasia L, Orlacchio A, et al. Intrinsic cell memory reinforces myogenic commitment of pericyte-derived iPSCs. J Pathol. 2011;223:593-603 pubmed publisher..Our data strongly suggest that iPSCs are a heterogeneous population and, when generated from myogenic adult stem cells, they exhibit a stronger commitment, paving the way for creating custom-made cell protocols for muscular dystrophies. ..
- Turk R, Sterrenburg E, van der Wees C, de Meijer E, de Menezes R, Groh S, et al. Common pathological mechanisms in mouse models for muscular dystrophies. FASEB J. 2006;20:127-9 pubmed..of hindlimb muscles of the following mouse models: dystrophin-deficient (mdx, mdx(3cv)), sarcoglycan-deficient (Sgca null, Sgcb null, Sgcg null, Sgcd null), dysferlin-deficient (Dysf null, SJL(Dysf)), sarcospan-deficient (Sspn null),..