Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder

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dc.contributor.authorKim, Il Binko
dc.contributor.authorLee, Taeyeopko
dc.contributor.authorLee, Junehawkko
dc.contributor.authorKim, Jonghunko
dc.contributor.authorLee, Suhoko
dc.contributor.authorKoh, In Gyeongko
dc.contributor.authorKim, Jae Hyunko
dc.contributor.authorAn, Joon-Yongko
dc.contributor.authorLee, Hyunseongko
dc.contributor.authorKim, Woo Kyeongko
dc.contributor.authorJu, Young Seokko
dc.contributor.authorCho, Yongseongko
dc.contributor.authorYu, Seok Jongko
dc.contributor.authorKim, Soon Aeko
dc.contributor.authorOh, Miaeko
dc.contributor.authorHan, Dong Wookko
dc.contributor.authorKim, Eunjoonko
dc.contributor.authorChoi, Jung Kyoonko
dc.contributor.authorYoo, Hee Jeongko
dc.contributor.authorLee, Jeong Hoko
dc.date.accessioned2022-12-19T03:02:39Z-
dc.date.available2022-12-19T03:02:39Z-
dc.date.created2022-07-26-
dc.date.created2022-07-26-
dc.date.issued2022-07-
dc.identifier.citationMOLECULAR PSYCHIATRY, v.27, no.11, pp.4680 - 4694-
dc.identifier.issn1359-4184-
dc.identifier.urihttp://hdl.handle.net/10203/303180-
dc.description.abstractThree-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.-
dc.languageEnglish-
dc.publisherSPRINGERNATURE-
dc.titleNon-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder-
dc.typeArticle-
dc.identifier.wosid000825914400004-
dc.identifier.scopusid2-s2.0-85134306956-
dc.type.rimsART-
dc.citation.volume27-
dc.citation.issue11-
dc.citation.beginningpage4680-
dc.citation.endingpage4694-
dc.citation.publicationnameMOLECULAR PSYCHIATRY-
dc.identifier.doi10.1038/s41380-022-01697-2-
dc.contributor.localauthorJu, Young Seok-
dc.contributor.localauthorKim, Eunjoon-
dc.contributor.localauthorChoi, Jung Kyoon-
dc.contributor.localauthorLee, Jeong Ho-
dc.contributor.nonIdAuthorLee, Junehawk-
dc.contributor.nonIdAuthorKim, Jonghun-
dc.contributor.nonIdAuthorLee, Suho-
dc.contributor.nonIdAuthorKoh, In Gyeong-
dc.contributor.nonIdAuthorKim, Jae Hyun-
dc.contributor.nonIdAuthorAn, Joon-Yong-
dc.contributor.nonIdAuthorLee, Hyunseong-
dc.contributor.nonIdAuthorKim, Woo Kyeong-
dc.contributor.nonIdAuthorCho, Yongseong-
dc.contributor.nonIdAuthorYu, Seok Jong-
dc.contributor.nonIdAuthorKim, Soon Ae-
dc.contributor.nonIdAuthorOh, Miae-
dc.contributor.nonIdAuthorHan, Dong Wook-
dc.contributor.nonIdAuthorYoo, Hee Jeong-
dc.description.isOpenAccessN-
dc.type.journalArticleArticle-
dc.subject.keywordPlusALPHA-N-CATENIN-
dc.subject.keywordPlusGENOME ANNOTATION-
dc.subject.keywordPlusCODING MUTATIONS-
dc.subject.keywordPlusFRAMEWORK-
dc.subject.keywordPlusPATTERNS-
dc.subject.keywordPlusPATHWAY-
dc.subject.keywordPlusLEPTIN-
dc.subject.keywordPlusGENES-
dc.subject.keywordPlusTRANSCRIPTION-
dc.subject.keywordPlusASSOCIATION-
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