作者: Luis B Barreiro , Guillaume Laval , Hélène Quach , Etienne Patin , Lluís Quintana-Murci
DOI: 10.1038/NG.78
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摘要: The considerable range of observed phenotypic variation in human populations may reflect, part, distinctive processes natural selection and adaptation to variable environmental conditions. Although recent genome-wide studies have identified candidate regions under selection1,2,3,4,5, it is not yet clear how has shaped population differentiation. Here, we analyzed the degree differentiation at 2.8 million Phase II HapMap single-nucleotide polymorphisms6. We find that negative globally reduced amino acid–altering mutations, particularly disease-related genes. Conversely, positive ensured regional by increasing gene regions, primarily nonsynonymous 5′-UTR variants. Our analyses identify a fraction loci contributed, probably still contribute, morphological diversity current populations.