NIH Research Festival Plenary Session I - Super enhancers in cell identity and disease

Super enhancers, as the name may connote, offer seemingly heroic regulation of gene expression. While snippets of DNA known as enhancers have long been appreciated to bind with transcription factors to ramp up gene activity, regions of DNA called super enhancers are exceptionally busy parts of the genome that control lineage-defining genes — to paraphrase the movie Spinal Tap, they turn their volume up to 11 just when that extra push is needed. Mutations in super enhancers have been noted in various diseases, and they may play important roles in the dysregulation of gene expression in cancer. NIH researchers have been at the forefront of this three-year-old field. The Collins lab in 2013 identified “ stretch enhancers ” as gene groups analogous to super enhancers; and with the O ’ Shea lab they explained how T cell super enhancers relate to the function of this specialized cell. In the summer of 2016, the Hennighausen lab discovered super enhancers in the mammary genome and used CRISPR/Cas9 to dissect one in mice. In this plenary session, NIH researchers present their latest work on these master control switches. Francis Collins, M.D., Ph.D. (NHGRI), will discuss the epigenomics of type 2 diabetes as revealed by one set of super enhancers. Rafael Casellas, Ph.D. (NIAMS), will illuminate the role of nuclear architecture in gene expression in B cells. And Keiko Ozato, Ph.D. (NICHD), will present how super enhancer are rapidly organized to control inflammatory gene expre...
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