ArticleMolecular psychiatry2022
Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.
Article in Molecular psychiatry, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- Multi-omic data integration improves the resolution of the molecular etiology of autism in a mouse model.Molecular psychiatry · 2026Article
- Individuals with intellectual disability have an increased burden ofmedRxiv : the preprint server for health sciences · 2025Article
- NoncodingiScience · 2025Article
- Advancing precision diagnosis in autism: Insights from large-scale genomic studies.Molecules and cells · 2025Review
- Genetic advances in neurodevelopmental disorders.Medical review (2021) · 2025Review
- Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics.Genomics & informatics · 2025Review
- Shared rare genetic variants in multiplex autism families suggest a social memory gene under selection.Scientific reports · 2025Article
- Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.Experimental & molecular medicine · 2024Article
- Mitochondrial DNA mosaicism in normal human somatic cells.Nature genetics · 2024Article
- Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk.Cell genomics · 2024Article
- TrkB-dependent regulation of molecular signaling across septal cell types.Translational psychiatry · 2024Article
- Protocol for the development of joint attention-based subclassification of autism spectrum disorder and validation using multi-modal data.BMC psychiatry · 2023Article
- Application of lncRNA-miRNA-mRNA ceRNA network analysis in the treatment of androgenic alopecia.Journal of clinical laboratory analysis · 2023Article
- Bioinformatics analysis of genomic and immune infiltration patterns in autism spectrum disorder.Annals of translational medicine · 2022Article
- Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance.Genome researchArticle
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Three-dimensional chromatin interactions regulate gene expressions. The significance of de novo mutations (DNMs) in chromatin interactions remains poorly understood for autism spectrum disorder (ASD). We generated 813 whole-genome sequences from 242 Korean simplex families to detect DNMs, and identified target genes which were putatively affected by non-coding DNMs in chromatin interactions. Non-coding DNMs in chromatin interactions were significantly involved in transcriptional dysregulations related to ASD risk. Correspondingly, target genes showed spatiotemporal expressions relevant to ASD in developing brains and enrichment in biological pathways implicated in ASD, such as histone modification. Regarding clinical features of ASD, non-coding DNMs in chromatin interactions particularly contributed to low intelligence quotient levels in ASD probands. We further validated our findings using two replication cohorts, Simons Simplex Collection (SSC) and MSSNG, and showed the consistent enrichment of non-coding DNM-disrupted chromatin interactions in ASD probands. Generating human induced pluripotent stem cells in two ASD families, we were able to demonstrate that non-coding DNMs in chromatin interactions alter the expression of target genes at the stage of early neural development. Taken together, our findings indicate that non-coding DNMs in ASD probands lead to early neurodevelopmental disruption implicated in ASD risk via chromatin interactions.
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