Although mammals are highly complex and comprised of a wide variety of cell types with specialized functions, virtually every cell in the body contains the same genomic DNA. This complexity requires tight regulation of gene expression via biochemical activities of chromatin: DNA methylation, histone modification, chromatin accessibility, and topologically associating domains (TADs). Ultimately, these epigenetic changes influence cell fate and when deregulated can lead to developmental disorders. The identification of genetic regulatory systems responsible for changes in chromatin state is crucial to understand development. However, the effects of 3D genome structure on gene regulation and development are poorly understood. My goal is to characterize the effect that genetic variation has on has on development by looking at 3D genome structure in normal developmental states as well as a developmental disorder, dactylaplasia.
BS, Biology & Biotechnology, Endicott College, Beverly, MA