human population differentiation is strongly correlated with local recombination rate人口分化与当地重组率有着密不可分的关系.pdfVIP

Human Population Differentiation Is Strongly Correlated with Local Recombination Rate Alon Keinan1,2,3*, David Reich1,2 1 Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America, 2 Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America, 3 Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York, United States of America Abstract Allele frequency differences across populations can provide valuable information both for studying population structure and for identifying loci that have been targets of natural selection. Here, we examine the relationship between recombination rate and population differentiation in humans by analyzing two uniformly-ascertained, whole-genome data sets. We find that population differentiation as assessed by inter-continental FST shows negative correlation with recombination rate, with FST reduced by 10% in the tenth of the genome with the highest recombination rate compared with the tenth of the genome with the lowest recombination rate (P %10212). This pattern cannot be explained by the mutagenic properties of recombination and instead must reflect the impact of selection in the last 100,000 years since human continental populations split. The correlation between recombination rate and FST has a qualitatively different relationship for FST between African and non-African populations and for FST between European and East Asian populations, suggesting varying levels or types of selection in different epochs of human history. Citation: Keinan A, Reich D (2010) Human Population Differentiation Is Strongly Correlated with Local Recombination