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Journal Articles Cell Year : 2013

Super-Enhancers in the Control of Cell Identity and Disease


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.

Dates and versions

pasteur-02871951 , version 1 (17-06-2020)



Denes Hnisz, Brian j. Abraham, Tong ihn Lee, Ashley Lau, Violaine Saint-André, et al.. Super-Enhancers in the Control of Cell Identity and Disease. Cell, 2013, 155 (4), pp.934-947. ⟨10.1016/j.cell.2013.09.053⟩. ⟨pasteur-02871951⟩


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