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G3 (Bethesda). 2013 May 20;3(5):891-907. doi: 10.1534/g3.113.005728.

Population structure in a comprehensive genomic data set on human microsatellite variation.

Author information

1
Department of Biology, Stanford University, Stanford, California 94305, USA. pembertont@med.umanitoba.ca

Abstract

Over the past two decades, microsatellite genotypes have provided the data for landmark studies of human population-genetic variation. However, the various microsatellite data sets have been prepared with different procedures and sets of markers, so that it has been difficult to synthesize available data for a comprehensive analysis. Here, we combine eight human population-genetic data sets at the 645 microsatellite loci they share in common, accounting for procedural differences in the production of the different data sets, to assemble a single data set containing 5795 individuals from 267 worldwide populations. We perform a systematic analysis of genetic relatedness, detecting 240 intra-population and 92 inter-population pairs of previously unidentified close relatives and proposing standardized subsets of unrelated individuals for use in future studies. We then augment the human data with a data set of 84 chimpanzees at the 246 loci they share in common with the human samples. Multidimensional scaling and neighbor-joining analyses of these data sets offer new insights into the structure of human populations and enable a comparison of genetic variation patterns in chimpanzees with those in humans. Our combined data sets are the largest of their kind reported to date and provide a resource for use in human population-genetic studies.

KEYWORDS:

population structure; relatives; short tandem repeats

PMID:
23550135
PMCID:
PMC3656735
DOI:
10.1534/g3.113.005728
[Indexed for MEDLINE]
Free PMC Article
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