Super-Enhancers in the Control of Cell Identity and Disease
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Young_Super-enhancers.pdf
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Author(s) • • • • • • •
Hnisz, Denes
Abraham, Brian Joseph
Lee, Tong Ihn
Lau, Ashley
Saint-Andre, Violaine
Sigova, Alla A.
Hoke, Heather Ashley
Young, Richard A.
Date Issued
November 2013
Journal
Cell
Publisher
Elsevier
Citation
Hnisz, Denes, Brian J. Abraham, Tong Ihn Lee, Ashley Lau, Violaine Saint-André, Alla A. Sigova, Heather A. Hoke, and Richard A. Young. “Super-Enhancers in the Control of Cell Identity and Disease.” Cell 155, no. 4 (November 2013): 934–947.
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Author's final manuscript
Abstract
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.
MIT Department
Massachusetts Institute of Technology. Department of Biology
Whitehead Institute for Biomedical Research
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Creative Commons Attribution-NonCommercial-NoDerivs License
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DOI of Published Version
https://doi.org/10.1016/j.cell.2013.09.053