CTCF公司
染色质
生物
遗传学
组蛋白
遗传变异
增强子
转录因子
粘蛋白
人口
基因
进化生物学
社会学
人口学
作者
Maya Kasowski,Sofia Kyriazopoulou-Panagiotopoulou,Fabian Grubert,Judith B. Zaugg,Anshul Kundaje,Yuling Liu,Alan P. Boyle,Qiangfeng Cliff Zhang,Fouad Zakharia,Damek V. Spacek,Jingjing Li,Dan Xie,Anthony O. Olarerin-George,Lars M. Steinmetz,John B. Hogenesch,M Kellis,Serafim Batzoglou,M Snyder
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2013-11-08
卷期号:342 (6159): 750-752
被引量:339
标识
DOI:10.1126/science.1242510
摘要
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.
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