ArticleNature medicine2016
A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus.
Article in Nature medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 105 papers, 5 of them syntheses that pooled it.
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Who cites it
105 citing papers in PubMed, 5 syntheses or guidelines pooled it, 175 citations in OpenAlex.
- The genetics of cannabis lifetime use.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Pooled it
- Chromosome 10q24.32 Variants Associate With Brain Arterial Diameters in Diverse Populations: A Genome-Wide Association Study.Journal of the American Heart Association · 2023Pooled it
- The Gene Encoding Protocadherin 9 (PCDH9), a Novel Risk Factor for Major Depressive Disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2018Pooled it
- The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disorders.Molecular psychiatry · 2018Pooled it
- Common variants at 2q11.2, 8q21.3, and 11q13.2 are associated with major mood disorders.Translational psychiatry · 2017Pooled it
- Calcium signaling pathway implicates a shared genetic basis between psychiatric and cardiovascular diseases.Translational psychiatry · 2026Article
- Genetic Risk and Resilience for Schizophrenia Stratified by Perinatal Gene Expression Predict Adult Cognitive Performance.bioRxiv : the preprint server for biology · 2026Article
- The contribution of short tandem repeats to splicing variation in the human cortex.bioRxiv : the preprint server for biology · 2026Article
- Genetic risk loci for Parkinson's disease and dementia in a large-scale population-based Taiwanese cohort (TPMI).The Lancet regional health. Western Pacific · 2026Article
- A causal coding variant regulating alternative splicing ofScience advances · 2026Article
- A review of post-GWAS studies in schizophrenia.Translational psychiatry · 2025Review
- High-throughput behavioural phenotyping of 25 C. elegans disease models including patient-specific mutations.BMC biology · 2025Article
- Perturbed cell fate decision by schizophrenia-associated AS3MTScience advances · 2025Article
- Investigating the shared genetic architecture between schizophrenia and sex hormone traits.Translational psychiatry · 2025Article
- A brain DNA co-methylation network analysis of psychosis in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Multi-omic quantitative trait loci link tandem repeat size variation to gene regulation in human brain.Nature genetics · 2025Article
- Genetic Influence of the Brain on Muscle Structure: A Mendelian Randomization Study of Sarcopenia.Journal of cachexia, sarcopenia and muscle · 2025Article
- Cell type and dynamic state govern genetic regulation of gene expression in heterogeneous differentiating cultures.Cell genomics · 2024Article
- Schizophrenia genomics: genetic complexity and functional insights.Nature reviews. Neuroscience · 2024Review
- DENND6A links Arl8b to a Rab34/RILP/dynein complex, regulating lysosomal positioning and autophagy.Nature communications · 2024Article
45 more citing papers are in PubMed but not listed here.
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20 authors at 2 institutions in 1 country.
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Abstract
Genome-wide association studies (GWASs) have reported many single nucleotide polymorphisms (SNPs) associated with psychiatric disorders, but knowledge is lacking regarding molecular mechanisms. Here we show that risk alleles spanning multiple genes across the 10q24.32 schizophrenia-related locus are associated in the human brain selectively with an increase in the expression of both BLOC-1 related complex subunit 7 (BORCS7) and a previously uncharacterized, human-specific arsenite methyltransferase (AS3MT) isoform (AS3MT(d2d3)), which lacks arsenite methyltransferase activity and is more abundant in individuals with schizophrenia than in controls. Conditional-expression analysis suggests that BORCS7 and AS3MT(d2d3) signals are largely independent. GWAS risk SNPs across this region are linked with a variable number tandem repeat (VNTR) polymorphism in the first exon of AS3MT that is associated with the expression of AS3MT(d2d3) in samples from both Caucasians and African Americans. The VNTR genotype predicts promoter activity in luciferase assays, as well as DNA methylation within the AS3MT gene. Both AS3MT(d2d3) and BORCS7 are expressed in adult human neurons and astrocytes, and they are upregulated during human stem cell differentiation toward neuronal fates. Our results provide a molecular explanation for the prominent 10q24.32 locus association, including a novel and evolutionarily recent protein that is involved in early brain development and confers risk for psychiatric illness.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.