Genetic Structure of Human Populations

  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},
  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… 

Population Genetic Principles and Human Populations

Some recent advances in the detection of human genetic variation, the caveats and issues when studying genetic data from human populations, and the prospects of applying such information for identification of functional genetic variants in the human genome are reviewed.

Whole-Genome Patterns of Common DNA Variation in Three Human Populations

This work has characterized whole-genome patterns of common human DNA variation by genotyping 1,586,383 single-nucleotide polymorphisms (SNPs) in 71 Americans of European, African, and Asian ancestry and indicates that these SNPs capture most common genetic variation as a result of linkage disequilibrium.

Genetic Variation and Recent Positive Selection in Worldwide Human Populations: Evidence from Nearly 1 Million SNPs

Two genes involved in the thyroid hormone pathway that show signals of selection in African Pygmies that may be related to their short stature are identified.

The genetic structure of human populations studied through short insertion-deletion polymorphisms.

This study demonstrates that a set of 40 well-chosen biallelic markers is sufficient for the characterization of human population structure at the global level and confirmed the partition of worldwide diversity into five genetic clusters that correspond to major geographic regions.

Proportioning whole-genome single-nucleotide-polymorphism diversity for the identification of geographic population structure and genetic ancestry.

It is shown that it is possible to reduce the amount of markers required for detecting continental population structure to only 10 single-nucleotide polymorphisms (SNPs), by applying a newly developed ascertainment algorithm to Affymetrix GeneChip Mapping 10K SNP array data that was obtained from samples of globally dispersed human individuals.

Inter-chromosomal variation in the pattern of human population genetic structure

This approach offers a comprehensive strategy for analysing chromosome-based population structure and differentiation, and demonstrates the application of complementary statistical and functional network analysis in human genetic variation studies.

Genetic Similarities Within and Between Human Populations

This article demonstrates that classification methods achieve higher discriminatory power than ω because of their use of aggregate properties of populations, and provides empirical justification for caution when using population labels in biomedical settings, with broad implications for personalized medicine, pharmacogenetics, and the meaning of race.

Genome-wide SNP typing reveals signatures of population history.

A genomewide comparison of population structure at STRPs and nearby SNPs in humans.

It is confirmed that individual STRPs can provide more information about population structure than individual SNPs, but the difference in structure at STRPs and SNPs depends on local genealogical history, which motivates theoretical comparisons of population structure at loci with different mutational properties.

Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation

Analysis of 11,555 single nucleotide polymorphisms in 203 individuals from 12 diverse human populations provides a valuable resource for the definition of marker panels to detect and control for population stratification in population-based gene identification studies.



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.

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.