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Extensive Variation in Chromatin States Across Humans

Author(s)
Kasowski, Maya; Kyriazopoulou-Panagiotopoulou, Sofia; Grubert, Fabian; Zaugg, Judith B.; Kundaje, Anshul; Liu, Yuling; Boyle, Alan P.; Zhang, Qiangfeng Cliff; Zakharia, Fouad; Spacek, Damek V.; Li, Jingjing; Xie, Dan; Olarerin-George, Anthony; Steinmetz, Lars M.; Hogenesch, John B.; Kellis, Manolis; Batzoglou, Serafim; Snyder, Michael; ... Show more Show less
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Abstract
The 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.
Date issued
2013-10
URI
http://hdl.handle.net/1721.1/100726
Department
Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
Journal
Science
Publisher
American Association for the Advancement of Science (AAAS)
Citation
Kasowski, M., S. Kyriazopoulou-Panagiotopoulou, F. Grubert, J. B. Zaugg, A. Kundaje, Y. Liu, A. P. Boyle, et al. “Extensive Variation in Chromatin States Across Humans.” Science 342, no. 6159 (October 17, 2013): 750–752.
Version: Author's final manuscript
ISSN
0036-8075
1095-9203

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