Super Enhancers in Cancers, Complex Disease, and Developmental Disorders.

ABSTRACT: 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.

SUBMITTER: Niederriter AR 

PROVIDER: S-EPMC4690034 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature