Disrupted in schizophrenia 1 is a protein that in humans is encoded by the DISC1 gene.[5] In coordination with a wide array of interacting partners, DISC1 has been shown to participate in the regulation of cell proliferation, differentiation, migration, neuronal axon and dendrite outgrowth, mitochondrial transport, fission and/or fusion, and cell-to-cell adhesion. Several studies have shown that unregulated expression or altered protein structure of DISC1 may predispose individuals to the development of schizophrenia, clinical depression, bipolar disorder, and other psychiatric conditions. The cellular functions that are disrupted by permutations in DISC1, which lead to the development of these disorders, have yet to be clearly defined and are the subject of current ongoing research. Although, recent genetic studies of large schizophrenia cohorts have failed to implicate DISC1 as a risk gene at the gene level,[6] the DISC1 interactome gene set was associated with schizophrenia, showing evidence from genome-wide association studies of the role of DISC1 and interacting partners in schizophrenia susceptibility.[7]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000162946 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043051 – 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.
- ^ Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS, Semple CA, et al. (May 2000). "Disruption of two novel genes by a translocation co-segregating with schizophrenia". Human Molecular Genetics. 9 (9): 1415–1423. doi:10.1093/hmg/9.9.1415. hdl:20.500.11820/debc2b54-6e20-425f-9eab-dcd0c136cc98. PMID 10814723.
- ^ Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, et al. (April 2016). "Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders". Nature Neuroscience. 19 (4): 571–577. doi:10.1038/nn.4267. PMC 6689268. PMID 26974950.
- ^ Facal F, Costas J (December 2019). "Evidence of association of the DISC1 interactome gene set with schizophrenia from GWAS". Progress in Neuro-Psychopharmacology & Biological Psychiatry. 95: 109729. doi:10.1016/j.pnpbp.2019.109729. PMID 31398428. S2CID 199518630.