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Genes 2015, 6(4), 1183-1200; doi:10.3390/genes6041183

Super Enhancers in Cancers, Complex Disease, and Developmental Disorders

1
Medical Scientist Training Program, Medical School, University of Michigan, Ann Arbor, MI 48109, USA
2
Department of Human Genetics, Medical School, University of Michigan, Ann Arbor, MI 48109, USA
3
Department of Computational Medicine and Bioinformatics, Medical School, University of Michigan, Ann Arbor, MI 48109, USA
4
Department of Pediatrics and Communicable Diseases, Medical School, University of Michigan, Ann Arbor, MI 48109, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Jessica Tyler
Received: 9 July 2015 / Revised: 24 October 2015 / Accepted: 26 October 2015 / Published: 9 November 2015
(This article belongs to the Special Issue Chromatin Dynamics)
View Full-Text   |   Download PDF [339 KB, uploaded 9 November 2015]   |  

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. View Full-Text
Keywords: super-enhancer; stretch enhancer; transcription; cancer; complex disease; developmental disorder super-enhancer; stretch enhancer; transcription; cancer; complex disease; developmental disorder
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Niederriter, A.R.; Varshney, A.; Parker, S.C.J.; Martin, D.M. Super Enhancers in Cancers, Complex Disease, and Developmental Disorders. Genes 2015, 6, 1183-1200.

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