ArticleProceedings of the National Academy of Sciences of the United States of America2009
DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
102 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Meta-analysis indicates that common variants at the DISC1 locus are not associated with schizophrenia.Molecular psychiatry · 2012Pooled it
- Review
- The schizophrenia associated protein DISC1 forms a multivalent tetrameric hub via conserved UVR dimers.Nature communications · 2026Article
- Tracing the aggregation pathway of the scaffold protein DISC1: Structural implications for chronic mental illnesses.Journal of structural biology: X · 2025Article
- Transcriptional Regulators in the Cerebellum in Chronic Schizophrenia: Novel Possible Targets for Pharmacological Interventions.International journal of molecular sciences · 2025Article
- Pilot work of the 10K Chinese People Genomic Diversity Project along the Silk Road suggests a complex east-west admixture landscape and biological adaptations.Science China. Life sciences · 2025Article
- Impairment of Oligodendroglial Lineage Cells: An Important Player in the Pathogenesis of Psychiatric Disorders.Advances in neurobiology · 2025Review
- A practical guide to sequencing in neuropsychiatric research.NPP - digital psychiatry and neuroscience · 2025Review
- Dysregulation of myelination-related genes in schizophrenia.Journal of neurochemistry · 2024Review
- Review
- Altered Rbfox1-Vamp1 pathway and prefrontal cortical dysfunction in schizophrenia.Molecular psychiatry · 2024Article
- Pathological oligodendrocyte precursor cells revealed in human schizophrenic brains and trigger schizophrenia-like behaviors and synaptic defects in genetic animal model.Molecular psychiatry · 2022Article
- The Long Non-Coding RNACells · 2022Review
- An alternative splicing hypothesis for neuropathology of schizophrenia: evidence from studies on historical candidate genes and multi-omics data.Molecular psychiatry · 2022Review
- The emerging role of long non-coding RNAs in schizophrenia.Frontiers in psychiatry · 2022Review
- Mutations in DISC1 alter IPNeuronal signaling · 2021Review
- Regulatory role of long non coding RNAs (lncRNAs) in neurological disorders: From novel biomarkers to promising therapeutic strategies.Asian journal of pharmaceutical sciences · 2021Review
- Brain Long Noncoding RNAs: Multitask Regulators of Neuronal Differentiation and Function.Molecules (Basel, Switzerland) · 2021Review
- Molecular landscape of long noncoding RNAs in brain disorders.Molecular psychiatry · 2021Review
42 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors.
Funding
Abstract
Disrupted-In-Schizophrenia-1 (DISC1) is a promising susceptibility gene for major mental illness, but the mechanism of the clinical association is unknown. We searched for DISC1 transcripts in adult and fetal human brain and tested whether their expression is altered in patients with schizophrenia and is associated with genetic variation in DISC1. Many alternatively spliced transcripts were identified, including groups lacking exon 3 (Delta3), exons 7 and 8 (Delta7Delta8), an exon 3 insertion variant (extra short variant-1, Esv1), and intergenic splicing between TSNAX and DISC1. Isoforms Delta7Delta8, Esv1, and Delta3, which encode truncated DISC1 proteins, were expressed more abundantly during fetal development than during postnatal ages, and their expression was higher in the hippocampus of patients with schizophrenia. Schizophrenia risk-associated polymorphisms [non-synonymous SNPs rs821616 (Cys704Ser) and rs6675281 (Leu607Phe), and rs821597] were associated with the expression of Delta3 and Delta7Delta8. Moreover, the same allele at rs6675281, which predicted higher expression of these transcripts in the hippocampus, was associated with higher expression of DISC1Delta7Delta8 in lymphoblasts in an independent sample. Our results implicate a molecular mechanism of genetic risk associated with DISC1 involving specific alterations in gene processing.
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