The genetic basis of adaptation to climatic stress in Siberian indigenous populations

Affymetrix single nucleotide polymorphism (SNP) array data were used to study genes that underlie human adaptation to climatic stress, with a focus on genetic changes that lead to long-term cold tolerance. Siberia provides the best opportunity to investigate the genetic mechanisms of cold resistance because of the long-term ancestry of indigenous populations in some of the coldest climates on earth. While much of northern Europe was under ice throughout the last glacial period, Siberia remained relatively ice free, and archaeological evidence suggests that people inhabited this region for more than 40,000 years. We gathered SNP data from ~200 individuals from 15 indigenous Siberian populations that inhabit a range of arctic climates and compare their patterns of genetic variation with those from other world populations from warmer climates.Particular attention is paid to regions containing genes that have been previously implicated in cold adaptation or that function in known pathways connected to energy metabolism or cold adapted phenotypes (e.g., those involved in basal metabolic rate and brown adipose tissue function). 651 samples from 40 populations has been genotyped using the Affymetrix platform Axiom_GW_Hu_SNP.r2