signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution签名的环境遗传适应查明病原体为主要通过人类进化选择压力.pdfVIP

Signatures of Environmental Genetic Adaptation Pinpoint Pathogens as the Main Selective Pressure through Human Evolution 1,2 1 1 3 2 Matteo Fumagalli *, Manuela Sironi , Uberto Pozzoli , Anna Ferrer-Admettla , Linda Pattini , Rasmus Nielsen3 1 Scientific Institute IRCCS E. Medea, Bioinformatic Lab, Bosisio Parini, Italy, 2 Bioengineering Department, Politecnico di Milano, Milan, Italy, 3 Departments of Integrative Biology and Statistics, University of California Berkeley, Berkeley, California, United States of America Abstract Previous genome-wide scans of positive natural selection in humans have identified a number of non-neutrally evolving genes that play important roles in skin pigmentation, metabolism, or immune function. Recent studies have also shown that a genome-wide pattern of local adaptation can be detected by identifying correlations between patterns of allele frequencies and environmental variables. Despite these observations, the degree to which natural selection is primarily driven by adaptation to local environments, and the role of pathogens or other ecological factors as selective agents, is still under debate. To address this issue, we correlated the spatial allele frequency distribution of a large sample of SNPs from 55 distinct human populations to a set of environmental factors that describe local geographical features such as climate, diet regimes, and pathogen loads. In concordance with previous studies, we detected a significant enrichment of genic SNPs, and particularly non-synonymous SNPs associated with local adaptation. Furthermore, we show that the diversity of the local pathogenic environment is the predominant driver of local adaptation, and that climate, at