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.2010 Aug 13;87(2):297-305.
doi: 10.1016/j.ajhg.2010.07.008.

Whole-genome genetic diversity in a sample of Australians with deep Aboriginal ancestry

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Whole-genome genetic diversity in a sample of Australians with deep Aboriginal ancestry

Brian P McEvoy et al. Am J Hum Genet..

Abstract

Australia was probably settled soon after modern humans left Africa, but details of this ancient migration are not well understood. Debate centers on whether the Pleistocene Sahul continent (composed of New Guinea, Australia, and Tasmania) was first settled by a single wave followed by regional divergence into Aboriginal Australian and New Guinean populations (common origin) or whether different parts of the continent were initially populated independently. Australia has been the subject of relatively few DNA studies even though understanding regional variation in genomic structure and diversity will be important if disease-association mapping methods are to be successfully evaluated and applied across populations. We report on a genome-wide investigation of Australian Aboriginal SNP diversity in a sample of participants from the Riverine region. The phylogenetic relationship of these Aboriginal Australians to a range of other global populations demonstrates a deep common origin with Papuan New Guineans and Melanesians, with little evidence of substantial later migration until the very recent arrival of European colonists. The study provides valuable and robust insights into an early and important phase of human colonization of the globe. A broader survey of Australia, including diverse geographic sample populations, will be required to fully appreciate the continent's unique population history and consequent genetic heritage, as well as the importance of both to the understanding of health issues.

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Figures

Figure 1
Figure 1
Unrooted Neighbor-Joining Phylogenetic Trees NJ trees are based on the interpopulationFST matrix calculated from allele frequencies in the 51 HGDP populations and those (A) directly observed in the admixed AuR population sample and (B) reconstructed in STRUCTURE as the unadmixed ancestral AuR population. HGDP population codes can be seen in Table S2. NJ trees were drawn with the PHYLIP package (version 3.68).
Figure 2
Figure 2
Principal-Component Analysis (A) PC1 versus PC2 and (B) PC3 versus PC4 derived from the 51 HGDP populations and the AuR sample. HGDP populations have been grouped into seven broader regions: Africa (AFR), America (AME), Central and South Asia (CSA), East Asia (ESA), Europe (EUR), Middle East (MDE), and Oceania (OCE). See Table S2 for further population details. PCA was conducted with EIGENSTRAT (version 2).
Figure 3
Figure 3
Population Structure Analysis Individual ancestry proportions in the HGDP and Aboriginal Australian (AuR) samples atK = 5, from (A)frappe analysis, with all 155,166 autosomal markers, and (B) STRUCTURE analysis, with a one-tenth subset (15,516) of all autosomal SNPs. Each horizontal line represents an individual and is divided intoK (number of population clusters) colored segments reflecting the estimated ancestry proportion from each cluster. Different geographic samples are divided by black lines with population and region indicated to the right and left of the plot, respectively. See Table S2 for a full explanation of population codes.frappe analysis used 5,000 expectation-maximization (EM) iterations whereas STRUCTURE runs were conducted under the admixture model with a 25,000 replicate burn-in followed by 25,000 Markov chain Monte Carlo (MCMC) iterations.
Figure 4
Figure 4
Distribution of Individual Aboriginal Australian Genomic Ancestry Estimates Values are the fraction of autosomal genomic ancestry assigned to the non-European cluster in STRUCTURE using the 38 AuR individuals, 200 HapMap3 Europeans, and aK = 2. STRUCTURE runs consisted of a 25,000 replicate burn-in followed by 25,000 MCMC iterations.
Figure 5
Figure 5
Genomic and Geographic Distribution of Highly Differentiated SNPs (A) SNPFST values, calculated between the full HapMap3 sample and the reconstructed Aboriginal Australian (AuR) allele frequencies, plotted against genomic location. (B) Detail of the chromosome 18q21.33 region (NCBI-36 coordinates 57,000,000 to 60,000,000) surrounding the highest observedFST at rs12458349. (C) Geographic distribution of rs12458349 allele frequencies in the HGDP, observed AuR and reconstructed AuR population samples. Adapted from a graphic produced by HGDP Selection browser.
Figure 6
Figure 6
Oceanic Ancestry Informative Markers Results of a STRUCTURE run (K = 2) using 100 AIMs in the HGDP populations. There is clear ability to distinguish the Oceanic (PAPuans and MELanesians) from non-Oceanic populations. See the Figure 3 legend for a fuller description of the plot. STRUCTURE runs consisted of a 25,000 replicate burn-in followed by 25,000 MCMC iterations.
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References

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