Extensive Variation in Chromatin States Across Humans
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Kellis_Extensive variation.pdf
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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.
Date Issued
October 2013
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
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.
MIT Department
Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
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Article is made available in accordance with the publisher's policy and may be subject to US copyright law. Please refer to the publisher's site for terms of use.
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DOI of Published Version
https://doi.org/10.1126/science.1242510
