Journal
CELL
Volume 155, Issue 4, Pages 934-947Publisher
CELL PRESS
DOI: 10.1016/j.cell.2013.09.053
Keywords
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Categories
Funding
- National Institutes of Health [HG002668, CA109901, CA146445]
- [P30AG10161]
- [R01AG17917]
- [R01AG36042]
- [RC2AG36547]
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Super-enhancers are large clusters of transcriptional enhancers that drive expression of genes that define cell identity. Improved understanding of the roles that super-enhancers play in biology would be afforded by knowing the constellation of factors that constitute these domains and by identifying super-enhancers across the spectrum of human cell types. We describe here the population of transcription factors, cofactors, chromatin regulators, and transcription apparatus occupying super-enhancers in embryonic stem cells and evidence that super-enhancers are highly transcribed. We produce a catalog of super-enhancers in a broad range of human cell types and find that super-enhancers associate with genes that control and define the biology of these cells. Interestingly, disease-associated variation is especially enriched in the super-enhancers of disease-relevant cell types. Furthermore, we find that cancer cells generate super-enhancers at oncogenes and other genes important in tumor pathogenesis. Thus, super-enhancers play key roles in human cell identity in health and in disease.
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