Neurodevelopmental innovation and disease in fast-evolving human genomic regions
Fall 2020 Graduate Student Award in Brain Sciences
The genetic changes that enabled the evolutionary emergence of humans from our great ape ancestors are poorly understood. I recently identified thousands of regions of the human genome with a dramatic number of human-specific changes in DNA sequence since our split from chimpanzees six million years ago. Many of these regions reside near genes involved in human brain development, as well as human disease mechanisms for schizophrenia, autism, and PTSD. I hypothesize that many of these regions contain human-evolved regulatory elements, or regions of DNA that control the activities of nearby genes, that have gained human-specific function and underlie our evolutionary differences from other primates. As a part of this project, I will use a novel assay for regulatory activity that I recently developed to systematically characterize the neurodevelopmental functions of these regions in developing brain tissue. Successful completion of this proposal will shed light on the genetic underpinnings of both human evolutionary change and disease mechanisms.