Doctoral Dissertation Research: Genetic Changes During Human Brain Evolution

Regents Of The University Of Michigan - Ann Arbor, Ann Arbor MI

Investigators

Abstract

Humans evolved very large brains relative to their body size, with a remarkable enrichment of neurons in the cerebral cortex. Extensive efforts in anthropology have focused on delineating the adaptive pressures that led to these changes during human evolution. However, the genetic changes underlying human brain expansion have not been fully explored. This project will test hypotheses about human brain evolution by studying the impact of human genetic variation on brain development using experimental models. This research has broad implications for understanding what makes the human brain unique at the cellular and molecular levels, with translational value for medical treatment of neurodevelopmental disorders. During this research, undergraduate students pursuing careers in STEM will be mentored and trained in molecular biology and bioinformatics techniques in the laboratory. Research findings will be used as 1) an educational tool for spreading knowledge about human evolution and genetics with the general public, K-12 students, and undergraduate students, as well as 2) a motivational platform for the young, future women scientists in the Females Excelling More in Mathematics, Engineering and Science (FEMMES) Program. The proposed research takes a multi-disciplinary approach to investigate how human evolutionary history has shaped the molecular and physiological mechanisms of human brain expansion. In the laboratory, human and non-human primate neural cells will be studied to explore how genetic variation evolved in humans to shape the developing brain. This project uses a combination of gene editing, RNA sequencing, and immunohistochemistry to determine the functional role of human-specific genetic sequence during brain development that corresponds to changes in brain size. These findings will advance the understanding of the molecular evolution of the human brain. This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.