西亚试剂：Super-Enhancers in the Control of Cell Identity and Disease

发布时间：2025-05-22

Super-Enhancers in the Control of Cell Identity and Disease

Denes Hnisz1， 3， Brian J. Abraham1， 3， Tong Ihn Lee1， 3， Ashley Lau1， 2， Violaine Saint-André1， Alla A. Sigova1， Heather A. Hoke1， 2， Richard A. Young1， 2，

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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