Natural Selection Affects Multiple Aspects of Genetic Variation at Putatively Neutral Sites across the Human Genome

摘要: A major question in evolutionary biology is how natural selection has shaped patterns of genetic variation across the human genome. Previous work documented a reduction diversity regions genome with low recombination rates. However, it unclear whether other summaries variation, like allele frequencies, are also correlated rate and these correlations can be explained solely by negative against deleterious mutations or positive acting on favorable alleles required. Here we attempt to address questions analyzing three different genome-wide resequencing datasets from European individuals. We document several significant between genomic features. In particular, find that average minor frequency reduced diversity, human-chimp divergence, near genes. Population simulations show either explain correlations. models strong nonsynonymous little predict stronger correlation neutral divergence than observed actual data, supporting importance negative, rather positive, throughout Further, widespread presence weakly alleles, small number strongly positively selected mutations, responsible for rate. This suggests affected multiple aspects linked not required observations.