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dc.contributor.authorMill, Jonathan
dc.date.accessioned2021-06-08T11:48:31Z
dc.date.available2021-06-08T11:48:31Z
dc.date.issued2020-09-25
dc.identifier.citationRamaswami G et al. Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism. Nat Commun. 2020 Sep 25;11(1):4873.en_US
dc.identifier.pmid32978376
dc.identifier.doi10.1038/s41467-020-18526-1
dc.identifier.urihttps://rde.dspace-express.com/handle/11287/621751
dc.description.abstractAutism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown patterns of molecular convergence in post-mortem brain tissue from autistic subjects. Here, we integrate genome-wide measures of mRNA expression, miRNA expression, DNA methylation, and histone acetylation from ASD and control brains to identify a convergent molecular subtype of ASD with shared dysregulation across both the epigenome and transcriptome. Focusing on this convergent subtype, we substantially expand the repertoire of differentially expressed genes in ASD and identify a component of upregulated immune processes that are associated with hypomethylation. We utilize eQTL and chromosome conformation datasets to link differentially acetylated regions with their cognate genes and identify an enrichment of ASD genetic risk variants in hyperacetylated noncoding regulatory regions linked to neuronal genes. These findings help elucidate how diverse genetic risk factors converge onto specific molecular processes in ASD.en_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.urlhttps://doi.org/10.1038/s41467-020-18526-1en_US
dc.rightsThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2020en_US
dc.rightsCC0 1.0 Universal*
dc.rights.urihttp://creativecommons.org/publicdomain/zero/1.0/*
dc.subjectAutism Spectrum Disorderen_US
dc.subjectDNA Methylationen_US
dc.subjectEpigenomicsen_US
dc.subjectBrainen_US
dc.subjectGene Expression Regulationen_US
dc.subjectGene Regulatory Networksen_US
dc.subjectGenomicsen_US
dc.subjectHistonesen_US
dc.subjectMicroRNAsen_US
dc.subjectTranscriptomeen_US
dc.subjectWessex Classification Subject Headings::Biochemistryen_US
dc.titleIntegrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autismen_US
dc.typeJournal Articleen_US
dc.identifier.journalNature Communicationsen_US
dc.identifier.pmcidPMC7519165
dc.description.noteThis article is available to RD&E staff via NHS OpenAthens. Click on the Publisher URL, and log in with NHS OpenAthens if prompted.en_US
dc.description.fundingFunding for this work was provided by grants to D.H.G (NIMH R01MH110927, U01MH115746 and R01MH094714), G.R. (NIMH 1F32MH114620), H.W. (NIMH R00MH113823 and NARSAD Young Investigator Award), M.J.G. (SFARI Bridge to Independence Award, NIMH R01MH121521, and NIMH R01MH123922), S.P. (Core funds from A*STAR Singapore), and J.M. (Medical Research Council R005176 and K013807).en_US
dc.type.versionPublisheden_US


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This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give
appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
© The Author(s) 2020
Except where otherwise noted, this item's license is described as This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2020