Large allele frequency differences between human continental groups are more likely to have occurred by drift during range expansions than by selection.
Several studies have found strikingly different allele frequencies between continents. This has been mainly interpreted as being due to local adaptation. However, demographic factors can generate similar patterns. Namely, allelic surfing during a population range expansion may increase the frequency of alleles in newly colonised areas. In this study, we examined 772 STRs, 210 diallelic indels, and 2834 SNPs typed in 53 human populations worldwide under the HGDP-CEPH Diversity Panel to determine to which extent allele frequency differs among four regions (Africa, Eurasia, East Asia, and America). We find that large allele frequency differences between continents are surprisingly common, and that Africa and America show the largest number of loci with extreme frequency differences. Moreover, more STR alleles have increased rather than decreased in frequency outside Africa, as expected under allelic surfing. Finally, there is no relationship between the extent of allele frequency differences and proximity to genes, as would be expected under selection. We therefore conclude that most of the observed large allele frequency differences between continents result from demography rather than from positive selection.
Hofer
T
T
Computational and Molecular Population Genetics Lab, Institute of Ecology and Evolution, University of Bern, 3012 Bern, Switzerland.
Ray
N
N
Wegmann
D
D
Excoffier
L
L
D005260:Female; D005787:Gene Frequency; D040961:Genetic Drift; D005828:Genetics, Population / Q000706:statistics & numerical data; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D018895:Microsatellite Repeats; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics* / Q000706:statistics & numerical data; D012641:Selection, Genetic