“Delta-sarcoglycan”的意思、由来-开放百科全书

Function

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. The mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed.^[4]

In melanocytic cells SGCD gene expression may be regulated by MITF.^[5]

References

1. ^{{cite journal | vauthors = Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M | title = Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD | journal = Hum Mol Genet | volume = 5 | issue = 6 | pages = 815–20 | date = December 1996 | pmid = 8776597 | pmc = | doi = 10.1093/hmg/5.6.815 }}
2. ^{{cite journal | vauthors = Nigro V, de Sá Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M | title = Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene | journal = Nat Genet | volume = 14 | issue = 2 | pages = 195–8 | date = November 1996 | pmid = 8841194 | pmc = | doi = 10.1038/ng1096-195 }}
3. ^{{cite journal | vauthors = Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA | title = Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy | journal = J Clin Invest | volume = 106 | issue = 5 | pages = 655–62 | date = September 2000 | pmid = 10974018 | pmc = 381284 | doi = 10.1172/JCI9224 }}
4. ^¹{{cite web | title = Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6444| accessdate = }}
5. ^{{cite journal | vauthors = Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res. | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x }}
6. ^{{cite journal | vauthors = Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ | title = Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans | journal = Muscle Nerve | volume = 28 | issue = 4 | pages = 472–83 | date = October 2003 | pmid = 14506720 | doi = 10.1002/mus.10465 }}
7. ^{{cite journal | vauthors = Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM | title = Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein | journal = J. Cell Biol. | volume = 148 | issue = 1 | pages = 115–26 | date = January 2000 | pmid = 10629222 | pmc = 3207142 | doi = 10.1083/jcb.148.1.115 }}

Further reading

{{cite journal | vauthors = Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G, Puca GA | title = Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein | journal = Hum. Mol. Genet. | volume = 5 | issue = 8 | pages = 1179–86 | year = 1997 | pmid = 8842738 | doi = 10.1093/hmg/5.8.1179 }}

{{cite journal | vauthors = Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque T, Favello A, Gish W, Hawkins M, Hultman M, Kucaba T, Lacy M, Le M, Le N, Mardis E, Moore B, Morris M, Parsons J, Prange C, Rifkin L, Rohlfing T, Schellenberg K, Bento Soares M, Tan F, Thierry-Meg J, Trevaskis E, Underwood K, Wohldman P, Waterston R, Wilson R, Marra M | title = Generation and analysis of 280,000 human expressed sequence tags | journal = Genome Res. | volume = 6 | issue = 9 | pages = 807–28 | year = 1997 | pmid = 8889549 | doi = 10.1101/gr.6.9.807 }}

{{cite journal | vauthors = Jung D, Duclos F, Apostol B, Straub V, Lee JC, Allamand V, Venzke DP, Sunada Y, Moomaw CR, Leveille CJ, Slaughter CA, Crawford TO, McPherson JD, Campbell KP | title = Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy | journal = J. Biol. Chem. | volume = 271 | issue = 50 | pages = 32321–9 | year = 1997 | pmid = 8943294 | doi = 10.1074/jbc.271.50.32321 }}

{{cite journal | vauthors = Moreira ES, Vainzof M, Marie SK, Nigro V, Zatz M, Passos-Bueno MR | title = A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies | journal = J. Med. Genet. | volume = 35 | issue = 11 | pages = 951–3 | year = 1999 | pmid = 9832045 | pmc = 1051491 | doi = 10.1136/jmg.35.11.951 }}

{{cite journal | vauthors = Chan YM, Bönnemann CG, Lidov HG, Kunkel LM | title = Molecular organization of sarcoglycan complex in mouse myotubes in culture | journal = J. Cell Biol. | volume = 143 | issue = 7 | pages = 2033–44 | year = 1999 | pmid = 9864373 | pmc = 2175228 | doi = 10.1083/jcb.143.7.2033 }}

{{cite journal | vauthors = Li J, Dressman D, Tsao YP, Sakamoto A, Hoffman EP, Xiao X | title = rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy | journal = Gene Ther. | volume = 6 | issue = 1 | pages = 74–82 | year = 1999 | pmid = 10341878 | doi = 10.1038/sj.gt.3300830 }}

{{cite journal | vauthors = Coral-Vazquez R, Cohn RD, Moore SA, Hill JA, Weiss RM, Davisson RL, Straub V, Barresi R, Bansal D, Hrstka RF, Williamson R, Campbell KP | title = Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy | journal = Cell | volume = 98 | issue = 4 | pages = 465–74 | year = 1999 | pmid = 10481911 | doi = 10.1016/S0092-8674(00)81975-3 }}

{{cite journal | vauthors = Liu LA, Engvall E | title = Sarcoglycan isoforms in skeletal muscle | journal = J. Biol. Chem. | volume = 274 | issue = 53 | pages = 38171–6 | year = 2000 | pmid = 10608889 | doi = 10.1074/jbc.274.53.38171 }}

{{cite journal | vauthors = Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM | title = Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein | journal = J. Cell Biol. | volume = 148 | issue = 1 | pages = 115–26 | year = 2000 | pmid = 10629222 | pmc = 3207142 | doi = 10.1083/jcb.148.1.115 }}

{{cite journal | vauthors = Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP | title = Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2) | journal = Neurogenetics | volume = 1 | issue = 1 | pages = 49–58 | year = 2000 | pmid = 10735275 | doi = 10.1007/s100480050008 }}

{{cite journal | vauthors = Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E | title = Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy | journal = Hum. Mol. Genet. | volume = 9 | issue = 7 | pages = 1033–40 | year = 2000 | pmid = 10767327 | doi = 10.1093/hmg/9.7.1033 }}

{{cite journal | vauthors = Radojevic V, Lin S, Burgunder JM | title = Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture | journal = Cell Tissue Res. | volume = 300 | issue = 3 | pages = 447–57 | year = 2000 | pmid = 10928275 | doi = 10.1007/s004410000213 }}

{{cite journal | vauthors = Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tomé FM, Campbell KP | title = Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions | journal = Hum. Mol. Genet. | volume = 9 | issue = 13 | pages = 2019–27 | year = 2000 | pmid = 10942431 | doi = 10.1093/hmg/9.13.2019 }}

{{cite journal | vauthors = Barresi R, Moore SA, Stolle CA, Mendell JR, Campbell KP | title = Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex | journal = J. Biol. Chem. | volume = 275 | issue = 49 | pages = 38554–60 | year = 2001 | pmid = 10993904 | doi = 10.1074/jbc.M007799200 }}

{{cite journal | vauthors = Sylvius N, Duboscq-Bidot L, Bouchier C, Charron P, Benaiche A, Sébillon P, Komajda M, Villard E | title = Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy | journal = Am. J. Med. Genet. A | volume = 120 | issue = 1 | pages = 8–12 | year = 2004 | pmid = 12794684 | doi = 10.1002/ajmg.a.20003 }}

{{cite journal | vauthors = Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ | title = Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans | journal = Muscle Nerve | volume = 28 | issue = 4 | pages = 472–83 | year = 2003 | pmid = 14506720 | doi = 10.1002/mus.10465 }}

Function

Interactions

References

Further reading

External links