title: 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.
authors.affiliation: Medical Scientist Training Program, Medical School, University of Michigan, Ann Arbor, MI 48109, USA. aniede@med.umich.edu.
authors.forename: Adrienne R
authors.initials: AR
authors.lastname: Niederriter
authors.affiliation: Department of Human Genetics, Medical School, University of Michigan, Ann Arbor, MI 48109, USA. arushiv@umich.edu.
authors.forename: Arushi
authors.initials: A
authors.lastname: Varshney
authors.affiliation: Department of Human Genetics, Medical School, University of Michigan, Ann Arbor, MI 48109, USA. scjp@umich.edu.|Department of Computational Medicine and Bioinformatics, Medical School, University of Michigan, Ann Arbor, MI 48109, USA. scjp@umich.edu.
authors.forename: Stephen C J
authors.initials: SC
authors.lastname: Parker
authors.affiliation: Medical Scientist Training Program, Medical School, University of Michigan, Ann Arbor, MI 48109, USA. donnamm@med.umich.edu.|Department of Human Genetics, Medical School, University of Michigan, Ann Arbor, MI 48109, USA. donnamm@med.umich.edu.|Department of Pediatrics and Communicable Diseases, Medical School, University of Michigan, Ann Arbor, MI 48109, USA. donnamm@med.umich.edu.
authors.forename: Donna M
authors.initials: DM
authors.lastname: Martin
keywords: cancer; complex disease; developmental disorder; stretch enhancer; super-enhancer; transcription