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Dystrobrevin binding protein 1
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| Identifiers | ||||||||||||||
| Symbols | DTNBP1; DBND; DKFZP564K192; FLJ30031; HPS7; MGC20210; My031; SDY | |||||||||||||
| External IDs | OMIM: 607145 MGI: 2137586 HomoloGene: 12037 | |||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 84062 | 94245 | ||||||||||||
| Ensembl | ENSG00000047579 | ENSMUSG00000057531 | ||||||||||||
| Uniprot | Q96EV8 | Q91WZ8 | ||||||||||||
| Refseq | NM_032122 (mRNA) NP_115498 (protein) |
NM_025772 (mRNA) NP_080048 (protein) |
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| Location | Chr 6: 15.63 - 15.77 Mb | Chr 13: 44.93 - 45.01 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1. Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin.[1] In addition, dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably mossy fiber synaptic terminals in the cerebellum and hippocampus.[1]
Implications for schizophrenia and other pathologies
Much interest in dysbindin has arisen through pedigree-based family-association studies of families with a history of schizophrenia, where a strong association was found between expression of a particular dysbindin allele and a clinical expression of schizophrenia.[2] However, the exact link between dysbindin and schizophrenia remains highly controversial.
Probable dysbindin-related mechanisms causing brain dysfunction are not fully known, but in one study, schizophrenic patients carrying the high-risk haplotype demonstrated visual processing deficits.[3] In another work, damping down the DTNBP1 expression led to an increase in cell surface dopamine D2-receptor levels.[4]
Mutation in the DTNBP1 gene was also shown to cause Hermansky-Pudlak syndrome type 7.[5]
References
- ^ a b Benson et al (2001). "Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain". J Biol Chem 276 (26): 24232–41. doi:. PMID 11316798.
- ^ Straub et al (2002). "Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia". Am J Hum Genet 71 (2): 337–48. doi:. PMID 12098102.
- ^ Donohoe G, Morris DW, De Sanctis P, Magno E, Montesi JL, Garavan HP, Robertson IH, Javitt DC, Gill M, Corvin AP, Foxe JJ (2007). "Early Visual Processing Deficits in Dysbindin-Associated Schizophrenia". Biol Psychiatry. doi:. PMID 17945199.
- ^ Iizuka Y, Sei Y, Weinberger DR, Straub RE (2007). "Evidence that the BLOC-1 protein dysbindin modulates dopamine D2 receptor internalization and signaling but not D1 internalization". J. Neurosci. 27 (45): 12390–5. doi:. PMID 17989303.
- ^ Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT (2003). "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)". Nat. Genet. 35 (1): 84–9. doi:. PMID 12923531.
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Wikipedia content modification information:
- This page was last modified on 8 July 2008, at 05:20.
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