Journal
GENES
Volume 6, Issue 4, Pages 1183-1200Publisher
MDPI AG
DOI: 10.3390/genes6041183
Keywords
super-enhancer; stretch enhancer; transcription; cancer; complex disease; developmental disorder
Categories
Funding
- NIH [R01 DC009410, 5T32GM007863-33, R00DK099240-02, 1U01DK105561-01]
- Donita B Sullivan Professorship at The University of Michigan
- American Diabetes Association Pathway to Stop Diabetes Grant [1-14-INI-07]
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Recently, unique areas of transcriptional regulation termed super-enhancers have been identified and implicated in human disease. Defined by their magnitude of size, transcription factor density, and binding of transcriptional machinery, super-enhancers have been associated with genes driving cell differentiation. While their functions are not completely understood, it is clear that these regions driving high-level transcription are susceptible to perturbation, and trait-associated single nucleotide polymorphisms (SNPs) occur within super-enhancers of disease-relevant cell types. Here we review evidence for super-enhancer involvement in cancers, complex diseases, and developmental disorders and discuss interactions between super-enhancers and cofactors/chromatin regulators.
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