Super-Enhancers in the Control of Cell Identity and Disease
Author(s)Hnisz, Denes; Abraham, Brian Joseph; Lee, Tong Ihn; Lau, Ashley; Saint-Andre, Violaine; Sigova, Alla A.; Hoke, Heather Ashley; Young, Richard A.; ... Show more Show less
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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.
DepartmentMassachusetts Institute of Technology. Department of Biology; Whitehead Institute for Biomedical Research
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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