Genetic Structure of Human Populations

@article{Rosenberg2002GeneticSO,
  title={Genetic Structure of Human Populations},
  author={Noah A. Rosenberg and Jonathan K. Pritchard and James L. Weber and Howard M. Cann and Kenneth K. Kidd and Lev A. Zhivotovsky and Marcus W. Feldman},
  journal={Science},
  year={2002},
  volume={298},
  pages={2381 - 2385}
}
We studied human population structure using genotypes at 377 autosomal microsatellite loci in 1056 individuals from 52 populations. Within-population differences among individuals account for 93 to 95% of genetic variation; differences among major groups constitute only 3 to 5%. Nevertheless, without using prior information about the origins of individuals, we identified six main genetic clusters, five of which correspond to major geographic regions, and subclusters that often correspond to… 
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References

SHOWING 1-10 OF 46 REFERENCES

High resolution of human evolutionary trees with polymorphic microsatellites

It is shown that polymorphic microsatellites (primarily CA repeats) allow trees of human individuals to be constructed that reflect their geographic origin with remarkable accuracy by the analysis of a large number of loci for each individual, in spite of the small variations in allele frequencies existing between populations.

Genetic Differences Within and Between Populations of the Major Human Subgroups

An analysis of all 15 pairwise comparisons among the geographic groups has shown the genetic divergence between major racial groups to be no more than a modest extension of the differences to be found between regions of the same group, accounting for only 51.6 ± 5.1% of the total between-population diversity.

An apportionment of human DNA diversity.

By partitioning genetic variances at three hierarchical levels of population subdivision, it is found that differences between members of the same population account for 84.4% of the total, which is in excellent agreement with estimates based on allele frequencies of classic, protein polymorphisms.

Evidence for population growth in humans is confounded by fine-scale population structure.

Multilocus genotypes, a tree of individuals, and human evolutionary history.

The authors' analyses indicate that some recent ancestor(s) of each of a few of the individuals tested may have immigrated, and the populations within regional groups appear to have been isolated from one another for <25,000 years.

Short tandem repeat polymorphism evolution in humans

Genetic variation in non-Africans seems to be a subset of that in Africans, supporting the replacement hypothesis for the origin of modern humans.

Inference of population structure using multilocus genotype data.

A model-based clustering method for using multilocus genotype data to infer population structure and assign individuals to populations that can be applied to most of the commonly used genetic markers, provided that they are not closely linked.

Empirical evaluation of genetic clustering methods using multilocus genotypes from 20 chicken breeds.

It is suggested that in species for which population structure is of interest, databases of multilocus genotypes at highly variable markers should be compiled and these genotypes could be used as training samples for genetic cluster analysis and to facilitate assignments of individuals of unknown origin to populations.

The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data.

Analysis of worldwide genetic variation among 255 individuals by using autosomal, mitochondrial, and Y-chromosome polymorphisms reveals substantial congruity among this diverse array of genetic systems and offers broad support for an African origin of modern human populations.

Ascertainment bias in estimates of average heterozygosity.

It is predicted that European estimates of average heterozygosity will exceed those of Africa and Asia at systems with large bias, and the magnitude of this European excess is consistent with the version of the model in which mutation rates vary across loci.