Dystrobrevin alpha
(Redirected fromDTNA)
Dystrobrevin alphais aproteinthat in humans is encoded by theDTNAgene.[5][6][7]
Function
[edit]The protein encoded by this gene belongs to thedystrobrevinsubfamily and thedystrophinfamily. This protein is a component of thedystrophin-associated protein complex(DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, includingdystroglycans,sarcoglycans,syntrophinsand alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms ofmuscular dystrophy.This protein may be involved in the formation and stability ofsynapsesas well as the clustering ofnicotinic acetylcholine receptors.Multiplealternatively splicedtranscript variants encoding different isoforms have been identified.[7]
Clinical significance
[edit]Mutations inDTNAare associated withMénière's disease.[8][9]
Interactions
[edit]Dystrobrevin has been shown tointeractwith dystrophin.[10]
References
[edit]- ^abcGRCh38: Ensembl release 89: ENSG00000134769–Ensembl,May 2017
- ^abcGRCm38: Ensembl release 89: ENSMUSG00000024302–Ensembl,May 2017
- ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM (Oct 1994). "(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein".Hum Mol Genet.3(5): 841.doi:10.1093/hmg/3.5.841-a.PMID8081380.
- ^Sjö A, Magnusson KE, Peterson KH (Apr 2005). "Association of alpha-dystrobrevin with reorganizing tight junctions".J Membr Biol.203(1): 21–30.doi:10.1007/s00232-004-0728-1.PMID15834686.S2CID371967.
- ^ab"Entrez Gene: DTNA dystrobrevin, alpha".
- ^Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A (2015)."Diagnostic criteria for Menière's disease".J Vestib Res.25(1): 1–7.doi:10.3233/VES-150549.PMID25882471.
- ^Requena T, Cabrera S, Martín-Sierra C, Price SD, Lysakowski A, Lopez-Escamez JA (2014)."Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease".Human Molecular Genetics.24(4): 1119–26.doi:10.1093/hmg/ddu524.PMC4834881.PMID25305078.
- ^Sadoulet-Puccio HM, Rajala M, Kunkel LM (Nov 1997)."Dystrobrevin and dystrophin: An interaction through coiled-coil motifs".Proc. Natl. Acad. Sci. U.S.A.94(23): 12413–8.Bibcode:1997PNAS...9412413S.doi:10.1073/pnas.94.23.12413.PMC24974.PMID9356463.
Further reading
[edit]- Straub V, Campbell KP (1997)."Muscular dystrophies and the dystrophin-glycoprotein complex".Current Opinion in Neurology.10(2): 168–75.doi:10.1097/00019052-199704000-00016.PMID9146999.
- Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M (1998)."From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy".Muscle Nerve.21(4): 421–38.doi:10.1002/(SICI)1097-4598(199804)21:4<421::AID-MUS1>3.0.CO;2-B.PMID9533777.S2CID25273816.
- Blake DJ (2002). "Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?".Neuromuscul. Disord.12(Suppl 1): S110–7.doi:10.1016/S0960-8966(02)00091-3.PMID12206805.S2CID9188156.
- Ahn AH, Kunkel LM (1995)."Syntrophin binds to an alternatively spliced exon of dystrophin".J. Cell Biol.128(3): 363–71.doi:10.1083/jcb.128.3.363.PMC2120343.PMID7844150.
- Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (1996)."The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives".J. Biol. Chem.271(5): 2724–30.doi:10.1074/jbc.271.5.2724.PMID8576247.
- Blake DJ, Nawrotzki R, Peters MF, Froehner SC, Davies KE (1996)."Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein".J. Biol. Chem.271(13): 7802–10.doi:10.1074/jbc.271.13.7802.PMID8631824.
- Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM (1996)."Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane".Hum. Mol. Genet.5(4): 489–96.doi:10.1093/hmg/5.4.489.PMID8845841.
- Ambrose HJ, Blake DJ, Nawrotzki RA, Davies KE (1997). "Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene".Genomics.39(3): 359–69.doi:10.1006/geno.1996.4515.PMID9119373.
- Metzinger L, Blake DJ, Squier MV, Anderson LV, Deconinck AE, Nawrotzki R, Hilton-Jones D, Davies KE (1997)."Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy".Hum. Mol. Genet.6(7): 1185–91.CiteSeerX10.1.1.497.387.doi:10.1093/hmg/6.7.1185.PMID9215691.
- Sadoulet-Puccio HM, Rajala M, Kunkel LM (1997)."Dystrobrevin and dystrophin: An interaction through coiled-coil motifs".Proc. Natl. Acad. Sci. U.S.A.94(23): 12413–8.Bibcode:1997PNAS...9412413S.doi:10.1073/pnas.94.23.12413.PMC24974.PMID9356463.
- Blake DJ, Nawrotzki R, Loh NY, Górecki DC, Davies KE (1998)."β-dystrobrevin, a member of the dystrophin-related protein family".Proc. Natl. Acad. Sci. U.S.A.95(1): 241–6.Bibcode:1998PNAS...95..241B.doi:10.1073/pnas.95.1.241.PMC18188.PMID9419360.
- Nawrotzki R, Loh NY, Ruegg MA, Davies KE, Blake DJ (1999)."Characterisation of alpha-dystrobrevin in muscle"(PDF).J. Cell Sci.111(17): 2595–605.doi:10.1242/jcs.111.17.2595.PMID9701558.
- Blake DJ, Hawkes R, Benson MA, Beesley PW (1999)."Different Dystrophin-like Complexes Are Expressed in Neurons and Glia".J. Cell Biol.147(3): 645–58.doi:10.1083/jcb.147.3.645.PMC2151186.PMID10545507.
- Sadoulet-Puccio HM, Feener CA, Schaid DJ, Thibodeau SN, Michels VV, Kunkel LM (2000). "The genomic organization of human dystrobrevin".Neurogenetics.1(1): 37–42.doi:10.1007/s100480050006.PMID10735273.S2CID22588879.
- Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei S, Puca AA, Tonali P, Puca GA, Nigro V (2000)."Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells".J. Biol. Chem.275(21): 15851–60.doi:10.1074/jbc.M000439200.PMID10747910.
- Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E (2000)."Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy".Hum. Mol. Genet.9(7): 1033–40.doi:10.1093/hmg/9.7.1033.PMID10767327.
- Tommasi di Vignano A, Di Zenzo G, Sudol M, Cesareni G, Dente L (2000). "Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex".FEBS Lett.471(2–3): 229–34.doi:10.1016/S0014-5793(00)01400-9.PMID10767429.S2CID21529759.
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