Ancient Genomes: Perspectives on Human Biology and Disease, Janet Kelso

The genome sequences of now extinct humans offer a unique opportunity to study the human past. Advances in the retrieval and analysis of ancient DNA have made it possible for us to reconstruct the genomes of several Neandertals, as well as to identify a previously unknown Asian hominin group related to Neandertals, the “Denisovans”.  These archaic genome sequences have provided insights into Neandertals and Denisovans, and have also revealed their interactions with modern humans. For example, we have shown that there was gene flow between archaic humans and early modern humans, such that all present-day people outside of Africa carry approximately 2% Neandertal DNA, and that some populations, largely in Asia and Oceania, also carry DNA inherited from Denisovans. This introgressed DNA has both positive and negative outcomes for present-day carriers; underlying apparently adaptive phenotypes such as high altitude adaptation, as well as influencing immunity and disease risk. We have identified haplotypes inherited from Neandertals and Denisovans, and determined their functional consequences using public genome, gene expression, and phenotype datasets.