Show simple item record

dc.contributor.authorKasowski, M.
dc.contributor.authorKyriazopoulou-Panagiotopoulou, S.
dc.contributor.authorGrubert, F.
dc.contributor.authorZaugg, J. B.
dc.contributor.authorKundaje, A.
dc.contributor.authorLiu, Y.
dc.contributor.authorBoyle, A. P.
dc.contributor.authorZhang, Q. C.
dc.contributor.authorZakharia, F.
dc.contributor.authorSpacek, D. V.
dc.contributor.authorLi, J.
dc.contributor.authorXie, D.
dc.contributor.authorOlarerin-George, A.
dc.contributor.authorSteinmetz, L. M.
dc.contributor.authorHogenesch, J. B.
dc.contributor.authorKellis, M.
dc.contributor.authorBatzoglou, S.
dc.contributor.authorSnyder, M.
dc.date.accessioned2016-02-25T13:18:11Z
dc.date.available2016-02-25T13:18:11Z
dc.date.issued2013-10-17
dc.identifier.citationKasowski M, Kyriazopoulou-Panagiotopoulou S, Grubert F, Zaugg JB, Kundaje A, et al. (2013) Extensive Variation in Chromatin States Across Humans. Science 342: 750–752. Available: http://dx.doi.org/10.1126/science.1242510.
dc.identifier.issn0036-8075
dc.identifier.issn1095-9203
dc.identifier.pmid24136358
dc.identifier.doi10.1126/science.1242510
dc.identifier.urihttp://hdl.handle.net/10754/598296
dc.description.abstractThe majority of disease-associated variants lie outside protein-coding regions, suggesting a link between variation in regulatory regions and disease predisposition. We studied differences in chromatin states using five histone modifications, cohesin, and CTCF in lymphoblastoid lines from 19 individuals of diverse ancestry. We found extensive signal variation in regulatory regions, which often switch between active and repressed states across individuals. Enhancer activity is particularly diverse among individuals, whereas gene expression remains relatively stable. Chromatin variability shows genetic inheritance in trios, correlates with genetic variation and population divergence, and is associated with disruptions of transcription factor binding motifs. Overall, our results provide insights into chromatin variation among humans.
dc.description.sponsorshipFunded by grants from the NIH and Genetics Department, Stanford University, Vera Moulton Wall Center for Pulmonary Vascular Disease and NIH MSTP TG T32GM07205 (M. K.), the Siebel Scholars Foundation (S.-K.P.), the KAUST-Stanford Academic Excellence Alliance program (S.-K.P. and S. B.), the Swiss National Foundation, and the Janggen-Poehn Foundation (J.B.Z.). Data sets are available at the Gene Expression Omnibus (GEO) database with accession no. GSE50893. We thank S. Montgomery, W. Huber, C. Bustamante, H. Tang, S. Anders, G. Euskirchen, B. Altshuler, M. Eaton, and L. Ward. M. S. is a founder and member of the science advisory board for Personalis and a science advisory board member for Genapsys and AxioMx. S. B. is a founder and advisor for DNAnexus and serves on the advisory boards of 23andMe and Eve Biomedical. Genotype calls and BAM files with mapped sequencing reads for the San individuals are available through a data access agreement for transfer of genetic data by contacting M.S.
dc.publisherAmerican Association for the Advancement of Science (AAAS)
dc.subject.meshGene Expression Regulation
dc.titleExtensive Variation in Chromatin States Across Humans
dc.typeArticle
dc.identifier.journalScience
dc.identifier.pmcidPMC4075767
dc.contributor.institutionDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
kaust.grant.programAcademic Excellence Alliance (AEA)
dc.date.published-online2013-10-17
dc.date.published-print2013-11-08


This item appears in the following Collection(s)

Show simple item record