Evolutionary genetics of human cold adaptation

Genetic adaptations are important in determining the long-term survival and distribution of species across a range of different environments. Humans are a tropically adapted species that expanded only recently to high latitudes. The genetic basis and the molecular mechanisms that govern human adaptation to high latitude environments, including adaptations to diet and cold, remain incompletely understood. The major objectives of this research are: 1) Identification of candidate genes for cold adaptation in humans based on genomic screens of recent positive selection in cohorts of previously sequenced genomes that represent populations inhabiting different temperature zones with a focus on human populations from Central and Northeast Siberia within the context of relevant genome-scale information from other populations of Eurasia. 2) Detection of genetic variants contributing to cold adaptation in humans on the basis of combined use of allele frequency and functional annotation statistics. In parallel to the work on human genes, Drosophila melanogaster will be used as a genetic model for the functional annotation of poorly annotated genes associated with cold adaptation in humans to gain a better understanding of the genetic basis and the molecular mechanisms behind the human cold adaptation.