Genomic insights into the cold adaptation of human populations in the Amur River Basin

Abstract Chinese ethnic minorities, including the Daur, Evenki, and Oroqen, living in the Amur River Basin, may have biologically adapted to extreme cold, but the genetic basis of such adaptations remains underinvestigated. Here, we conducted the first whole-genome sequencing study of 90 individuals representing the three groups to gain insights into their genetic structure, population history, and potential cold adaptation. We observed both shared and differentiated natural selection signatures associated with cold adaptation among these populations. Notably, we identified several novel cold adaptation genes, including FGGY, ADH1A, ADH1B, and NELL1, and noted an independent selection event on alcohol dehydrogenase genes, distinguishing these populations from East Asians south of the Amur River. Furthermore, we modeled the evolutionary scenarios of adaptive alleles for each population. Our findings advance the understanding of human adaptation to cold stress and the demographic history of populations in ultracold regions.