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"Regulatory principles governing enhancer function during development"

"Regulatory principles governing enhancer function during development"

Event Date
29 April 2019 - 12:00 to 13:00
Location
SCRM Seminar Room
Speaker Name
Emma Farley
Speaker Organisation
Assistant Professor UC San Diego, Department of Medicine and Molecular Biology
Host

Emma Farley is Assistant Professor at the University of California, San Diego.  Her lab use high-throughput functional approaches within developing embryos to decipher how enhancers encode the instructions for successful development and to pinpoint enhancer mutations associated with disease. She received her Bachelor's and Master’s in Biochemistry from Oxford University and a Ph.D. in Developmental Biology from Imperial College London. Emma worked in Mike Levine’s lab at UC Berkeley and Princeton University as a postdoc, where she exploited the advantages of the model organism Ciona intestinalis (the sea squirt) for functional genomics. She developed methods to create and functionally test millions of enhancer variants in every cell of a developing embryo. Her research enabled the first high-throughput dissection of an enhancer within whole developing embryos, these studies revealed regulatory principles governing enhancer function.

Homepage: https://farleylab.com/

LinkedIn: https://www.linkedin.com/in/emma-farley-72034295

Twitter: https://twitter.com/ekfarley?lang=en

"Regulatory principles governing enhancer function during development"

The human genome contains on the order of a million enhancers. These segments of the DNA act as switches to regulate where and when the approximately 20,000 genes are expressed, for example turning on heart genes in the heart and neuronal genes in the nervous system. As such enhancers provide the instructions for tissue specific gene expression and thus successful development, adult homeostasis, and cellular integrity. Mutations in enhancers can alter tissue specific expression and cause phenotypic variation and disease. For example, a single mutation in the Shh limb bud enhancer leads to aberrant expression of SHH and polydactyly; and in an enhancer for the membrane protein Duffy, a point mutation results in malarial resistance. Indeed, we now know that the majority of mutations associated with disease are located within enhancers. However, despite the fundamental importance of enhancers for organismal integrity, a broad understanding of how enhancer sequence encodes tissue specific expression and the types of mutations that impact enhancer function is lacking. I will discuss our recent efforts to better understand how enhancers encode the instructions for development and how changes in our enhancers lead to disease and evolutionary adaptation. Elucidating the constraints that relate enhancer sequence, tissue specific gene expression, and phenotype will allow us to read the instructions for development and organismal integrity that are encoded in the genome as well as pinpoint the mutations that underlie the many diseases caused by functional mistakes in enhancer sequence. This information can be used to devise regenerative medicine approaches, understand the cause of developmental defects and genetic diseases, and develop novel therapeutics to treat such afflictions.