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Purifying selection modulates the estimates of population differentiation and confounds genome-wide comparisons across single-nucleotide polymorphisms

Title
Purifying selection modulates the estimates of population differentiation and confounds genome-wide comparisons across single-nucleotide polymorphisms
Authors
Maruki T.Kumar S.Kim Y.
Ewha Authors
김유섭
SCOPUS Author ID
김유섭scopus
Issue Date
2012
Journal Title
Molecular Biology and Evolution
ISSN
0737-4038JCR Link
Citation
vol. 29, no. 12, pp. 3617 - 3623
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
An improved understanding of the biological and numerical properties of measures of population differentiation across loci is becoming increasingly more important because of their growing use in analyzing genome-wide polymorphism data for detecting population structures, inferring the rates of migration, and identifying local adaptations. In a genome-wide analysis, we discovered that the estimates of population differentiation (e.g., FST, θ, and Jost's D) calculated for human single-nucleotide polymorphisms (SNPs) are strongly and positively correlated to the position-specific evolutionary rates measured from multispecies alignments. That is, genomic positions (loci) experiencing higher purifying selection (lower evolutionary rates) produce lower values for the degree of population differentiation than those evolving with faster rates. We show that this pattern is completely mediated by the negative effects of purifying selection on the minor allele frequency (MAF) at individual loci. Our results suggest that inferences and methods relying on the comparison of population differentiation estimates (FST, θ, and Jost's D) based on SNPs across genomic positions should be restricted to loci with similar MAFs and/or the rates of evolution in genome scale surveys. © 2012 The Author 2012.
DOI
10.1093/molbev/mss187
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자연과학대학 > 생명과학전공 > Journal papers
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