Research

The role of mammalian enhancers in gene regulation and its evolution

All cells in an organism share the same genome sequence. By expressing different genes in different contexts, multicellular organisms generate cellular complexity – adult humans have hundreds of different cell types that all derive from one fertilized egg cell through differential regulation of developmental genes. Enhancers, distal cis-regulatory elements, play an important role in facilitating cell type- and time point-specific gene regulation. Typically, one gene is regulated by many enhancers, each of which is active in a limited spatiotemporal context. One goal of the lab is to understand how enhancers affect the activity of their target genes, and how evolutionary or disease-related mutations affect this interplay.

Genomics approaches to study mammalian gene regulation

Research in our lab employs computational and functional genomics to interrogate enhancer action in mammals. Using computational approaches we identify enhancer sequences and uncover patterns indicative of enhancer activity and mutations that could affect this activity. We further use genome-scale assays to characterize developmental gene expression programs, to identify enhancer sequences, and to explore their activity in mammalian cell model systems derived from induced pluripotent stem cells (iPSCs). Please see Publications for research output from our lab.