ArticlePloS one2015
Effects of a Balanced Translocation between Chromosomes 1 and 11 Disrupting the DISC1 Locus on White Matter Integrity.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- White Matter Tract Alterations in Bipolar Disorder: A Systematic Review and Meta-Analysis of Diffusion Tensor Imaging Studies.Brain and behavior · 2026Pooled it
- Functional brain defects in a mouse model of a chromosomal t(1;11) translocation that disrupts DISC1 and confers increased risk of psychiatric illness.Translational psychiatry · 2021Article
- Altered expression of the DISC1 gene in peripheral blood of patients with schizophrenia.BMC medical genetics · 2020Article
- Neurobiological commonalities and distinctions among 3 major psychiatric disorders: a graph theoretical analysis of the structural connectomeJournal of psychiatry & neuroscience : JPN · 2020Article
- Familial t(1;11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte-myelin dysfunction.Molecular psychiatry · 2019Article
- Sex-specific deficits in neurite density and white matter integrity are associated with targeted disruption of exon 2 of the Disc1 gene in the rat.Translational psychiatry · 2019Article
- DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders.Molecular psychiatry · 2018Article
- Shared effects of DISC1 disruption and elevated WNT signaling in human cerebral organoids.Translational psychiatry · 2018Article
- Overexpression of Truncated Human DISC1 Induces Appearance of Hindbrain Oligodendroglia in the Forebrain During Development.Schizophrenia bulletin · 2018Article
- Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2018Review
- Increased density of DISC1-immunoreactive oligodendroglial cells in fronto-parietal white matter of patients with paranoid schizophrenia.European archives of psychiatry and clinical neuroscience · 2016Article
- Balanced translocation linked to psychiatric disorder, glutamate, and cortical structure/function.NPJ schizophrenia · 2016Article
- Article
Corrections and comments
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Authors and funding
21 authors at 10 institutions in 2 countries.
Funding
Abstract
objectiveIndividuals carrying rare, but biologically informative genetic variants provide a unique opportunity to model major mental illness and inform understanding of disease mechanisms. The rarity of such variations means that their study involves small group numbers, however they are amongst the strongest known genetic risk factors for major mental illness and are likely to have large neural effects. DISC1 (Disrupted in Schizophrenia 1) is a gene containing one such risk variant, identified in a single Scottish family through its disruption by a balanced translocation of chromosomes 1 and 11; t(1;11) (q42.1;q14.3).
methodWithin the original pedigree, we examined the effects of the t(1;11) translocation on white matter integrity, measured by fractional anisotropy (FA). This included family members with (n = 7) and without (n = 13) the translocation, along with a clinical control sample of patients with psychosis (n = 34), and a group of healthy controls (n = 33).
resultsWe report decreased white matter integrity in five clusters in the genu of the corpus callosum, the right inferior fronto-occipital fasciculus, acoustic radiation and fornix. Analysis of the mixed psychosis group also demonstrated decreased white matter integrity in the above regions. FA values within the corpus callosum correlated significantly with positive psychotic symptom severity.
conclusionsWe demonstrate that the t(1;11) translocation is associated with reduced white matter integrity in frontal commissural and association fibre tracts. These findings overlap with those shown in affected patients with psychosis and in DISC1 animal models and highlight the value of rare but biologically informative mutations in modeling psychosis.
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