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Cho, Seung Woo
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Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements

DC Field Value Language Mumbach, Maxwell R. ko Satpathy, Ansuman T. ko Boyle, Evan A. ko Dai, Chao ko Gowen, Benjamin G. ko Cho, Seung Woo ko Nguyen, Michelle L. ko Rubin, Adam J. ko Granja, Jeffrey M. ko Kazane, Katelynn R. ko Wei, Yuning ko Nguyen, Trieu ko Greenside, Peyton G. ko Corces, M. Ryan ko Tycko, Josh ko Simeonov, Dimitre R. ko Suliman, Nabeela ko Li, Rui ko Xu, Jin ko Flynn, Ryan A. ko Kundaje, Anshul ko Khavari, Paul A. ko Marson, Alexander ko Corn, Jacob E. ko Quertermous, Thomas ko Greenleaf, William J. ko Chang, Howard Y. ko 2019-01-21T05:11:31Z - 2019-01-18 ko 2017-11 ko
dc.identifier.citation NATURE GENETICS, v.49, no.11, pp.1602 ko
dc.identifier.issn 1061-4036 ko
dc.identifier.uri -
dc.description.abstract The challenge of linking intergenic mutations to target genes has limited molecular understanding of human diseases. Here we show that H3K27ac HiChIP generates high-resolution contact maps of active enhancers and target genes in rare primary human T cell subtypes and coronary artery smooth muscle cells. Differentiation of naive T cells into T helper 17 cells or regulatory T cells creates subtype-specific enhancer-promoter interactions, specifically at regions of shared DNA accessibility. These data provide a principled means of assigning molecular functions to autoimmune and cardiovascular disease risk variants, linking hundreds of noncoding variants to putative gene targets. Target genes identified with HiChIP are further supported by CRISPR interference and activation at linked enhancers, by the presence of expression quantitative trait loci, and by allele-specific enhancer loops in patient-derived primary cells. The majority of disease-associated enhancers contact genes beyond the nearest gene in the linear genome, leading to a fourfold increase in the number of potential target genes for autoimmune and cardiovascular diseases. ko
dc.language 영어 ko
dc.title Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements ko
dc.type ARTICLE ko
dc.identifier.scopusid 2-s2.0-85032453347 ko
dc.identifier.wosid 000413909800009 ko
dc.type.rims ART ko
dc.identifier.doi 10.1038/ng.3963 ko
dc.identifier.url ko
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