Disruption of two novel genes by a translocation co-segregating with schizophrenia
Open accessAbstract
A balanced (1;11)(q42.1;q14.3) translocation segregates with schizophrenia and related psychiatric disorders in a large Scottish family (maximum LOD = 6.0). We hypothesize that the translocation is the causative event and that it directly disrupts gene function. We previously reported a dearth of genes in the breakpoint region of chromosome 11 and it is therefore unlikely that the expression of any genes on this chromosome has been affected by the translocation. By contrast, the corresponding region on chromosome 1 is gene dense and, not one, but two novel genes are directly disrupted by the translocation. These genes have been provisionally named Disrupted-In-Schizophrenia 1 and 2 ( DISC1 and DISC2 ). DISC1 encodes a large protein with no significant sequence homology to other known proteins. It is predicted to consist of a globular N-terminal domain(s) and helical C-terminal domain which has the potential to form a coiled-coil by interaction with another, as yet, unidentified protein(s). Similar structures are thought to be present in a variety of unrelated proteins that are known to function in the nervous system. The putative structure of the protein encoded by DISC1 is therefore compatible with a role in the nervous system. DISC2 apparently specifies a non-coding RNA molecule that is antisense to DISC1, an arrangement that has been observed at other loci where it is thought that the antisense RNA is involved in regulating expression of the sense gene. Altogether, these observations indicate that DISC1 and DISC2 should be considered formal candidate genes for susceptibility to psychiatric illness.
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Loss-of-function translocations in DISC1 are associated with high rates of mental illness, and with reduced PFC grey matter and impaired working memory in patients with schizophrenia.
“loss-of-function translocations in DISC1 are associated with high rates of mental illness129, and with reduced PFC grey matter and impaired working memory in patients with schizophrenia130.”
From Stress signalling pathways that impair prefrontal cortex structure and function (2009) · cites this paper as [129]
Persistence of rare risk alleles across generations rarely manifests as a near-mendelian trait.
“Very rarely does this persistence manifest as a near-mendelian trait (Millar et al., 2000).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Millar et al., 2000
The authors did not find evidence of dURV enrichment in DPYD (two dURVs in cases, six in controls) or DISC1 (one in cases, two in controls).
“We did not find any evidence of enrichment of dURVs in DPYD19 (in which we found two dURVs in cases and six in controls), nor in DISC120 (one dURV among cases and two in controls) (Supplementary Table 3).”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [20]
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Association between schizophrenia and genetic variation in DCC: a case–control study
Grant, A., Fathalli, F., Rouleau, G., Joober, R., & Flores, C. (2012) · Schizophrenia Research · doi:10.1016/j.schres.2012.02.023 · Cited by 53 · see citing works
The role of copy number variation in schizophrenia
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Wessman, J., Paunio, T., Tuulio-Henriksson, A., Koivisto, M., Partonen, T., Suvisaari, J., Turunen, J. A., Wedenoja, J., Hennah, W., Pietiläinen, O. P. H., et al. (2009) · Biological Psychiatry · doi:10.1016/j.biopsych.2009.05.034 · Cited by 52 · see citing works
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Abnormal interneuron development in disrupted-in-schizophrenia-1 L100P mutant mice
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
Gilling, M., Lauritsen, M. B., Møller, M., Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, H., Andersen, P. S., Mors, O., et al. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201985 · Cited by 18 · see citing works
- Authors
- Millar, J. K.
- Affiliations
- Western General Hospital (GB)
- Corresponding author
- Millar, J. K.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-05-22
- Volume
- 9
- Issue
- 9
- Pages
- 1415-1423
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2135772494
- Cited by
- 1,254
- References
- 28
- Citations by year
- 2026: 16 · 2025: 20 · 2024: 12 · 2023: 16 · 2022: 27 · 2021: 35 · 2020: 34 · 2019: 29 · 2018: 46 · 2017: 47 · 2016: 64 · 2015: 73 · 2014: 71 · 2013: 69 · 2012: 77
- FWCI
- 18.60
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- schizophrenia, balanced translocation, DISC1, candidate genes, gene disruption, antisense RNA, chromosome 1, chromosome 11, family segregation
- MeSH terms
- Amino Acid Sequence, Base Sequence, Brain, Cell Line, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 11, Cloning, Molecular, Family Health, Humans, Lod Score, Models, Genetic, Molecular Sequence Data, Nerve Tissue Proteins, Schizophrenia, Time Factors, Tissue Distribution, Translocation, Genetic, Blotting, Southern, Gene Library, Open Reading Frames, RNA, Antisense, DNA, Complementary, Reverse Transcriptase Polymerase Chain Reaction, 3' Untranslated Regions
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