Identifying signatures of Adaptive Evolution in the Human Genome using Comparative Population and Species Approaches

Brian C. Verrelli - School of Life Sciences and Biodesign Institute - Arizona State University   

Abstract: In only the last few years we have come to understand the amount of genetic diversity that exists within and between human populations as well as between humans and our closest relative, the chimpanzee. We now know that humans differ by as little as 0.1% on average at the DNA sequence level, yet surprisingly, humans and chimpanzees differ by as little as 1%. Thus, the fundamental challenge has become the identification of the genetic diversity responsible for the vast phenotypic diversity that separates us from each other as well as from our closest primate relatives. Through a global population genetic analysis of patterns of DNA sequence variation across the genome, we are beginning to identify those genes and specific mutations that characterize events of migration, population growth, and most importantly, adaptation that typify both historical and more recent time periods of human evolution. Here, I present genetic analyses of within human and chimpanzee populations as well as comparative data between them to discuss examples such as the impact of infectious diseases like malarial resistance and the evolution of sensory perception in color vision adaptation that have left dramatic "signatures" of past and recent natural selection in our genome record.