ArticleAmerican journal of human genetics2001
Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 322 papers, 2 of them syntheses that pooled it.
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Who cites it
322 citing papers in PubMed, 2 syntheses or guidelines pooled it, 736 citations in OpenAlex.
- Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes.Schizophrenia bulletin · 2014Pooled it
- Brain vs behavior: an effect size comparison of neuroimaging and cognitive studies of genetic risk for schizophrenia.Schizophrenia bulletin · 2013Pooled it
- Selective hyper-responsiveness of the interferon system in major depressive disorders and depression induced by interferon therapy.PloS one · 2012Trial
- Epigenetic Evidence Implies Disturbed Proteostasis and Potentially Protein Aggregation in Suicidality.Biomolecules · 2026Review
- Hyperdynamic microtubule-based structural changes in Monocyte-Derived-Neuronal-like cells from patients with schizophrenia.Schizophrenia (Heidelberg, Germany) · 2026Article
- The schizophrenia associated protein DISC1 forms a multivalent tetrameric hub via conserved UVR dimers.Nature communications · 2026Article
- Developmental and genetic modulation of evidence integration dynamics in zebrafish sensorimotor decision-making.bioRxiv : the preprint server for biology · 2026Article
- Mapping spatially organized molecular and genetic signatures of schizophrenia across multiple scales in human prefrontal cortex.bioRxiv : the preprint server for biology · 2026Article
- The indirect pathway hypothesis of schizophrenia: insights from perinatal asphyxia.Frontiers in physiology · 2026Review
- Tracing the aggregation pathway of the scaffold protein DISC1: Structural implications for chronic mental illnesses.Journal of structural biology: X · 2025Article
- TNIK-driven regulation of ERK5 transcriptional activity in endothelial cells.Frontiers in cardiovascular medicine · 2025Article
- Discovering functional interactions among schizophrenia-risk genes by combining behavioral genetics with cell biology.Neuroscience and biobehavioral reviews · 2024Review
- The Role of Nde1 phosphorylation in interkinetic nuclear migration and neural migration during cortical development.Molecular biology of the cell · 2024Article
- P300 in schizophrenia: Then and now.Biological psychology · 2024Review
- Beyond anosmia: olfactory dysfunction as a common denominator in neurodegenerative and neurodevelopmental disorders.Frontiers in neuroscience · 2024Review
- Neuropeptide Y in first-episode schizophrenia: is there any sex differences in the pathogeneses of schizophrenia?Frontiers in psychiatry · 2024Article
- Synaptic plasticity in schizophrenia pathophysiology.IBRO neuroscience reports · 2023Article
- Development and Application of Brain Region-Specific Organoids for Investigating Psychiatric Disorders.Biological psychiatry · 2023Review
- TNIK regulation of interferon signaling and endothelial cell response to virus infection.Frontiers in cardiovascular medicine · 2023Article
- Methylation pattern and mRNA expression of synapse-relevant genes in the MAM model of schizophrenia in the time-course of adolescence.Schizophrenia (Heidelberg, Germany) · 2022Article
262 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A family with a (1;11)(q42;q14.3) translocation significantly linked to a clinical phenotype that includes schizophrenia and affective disorders is described. This translocation generates a LOD score of 3.6 when the disease phenotype is restricted to schizophrenia, of 4.5 when the disease phenotype is restricted to affective disorders, of 7.1 when relatives with recurrent major depression, with bipolar disorder, or with schizophrenia are all classed as affected. This evidence for linkage is among the strongest reported for a psychiatric disorder. Family members showed no distinctive features by which the psychiatric phenotype could be distinguished from unrelated cases of either schizophrenia or affective disorders, and no physical, neurological, or dysmorphic conditions co-occurred with psychiatric symptoms. Translocation carriers and noncarriers had the same mean intelligence quotient. Translocation carriers were similar to subjects with schizophrenia and different from noncarriers and controls, in showing a significant reduction in the amplitude of the P300 event-related potential (ERP). Furthermore, P300 amplitude reduction and latency prolongation were measured in some carriers of the translocation who had no psychiatric symptoms-a pattern found in other families with multiple members with schizophrenia, in which amplitude of and latency of P300 appear to be trait markers of risk. The results of karyotypic, clinical, and ERP investigations of this family suggest that the recently described genes DISC1 and DISC2, which are directly disrupted by the breakpoint on chromosome 1, may have a role in the development of a disease phenotype that includes schizophrenia as well as unipolar and bipolar affective disorders.
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