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Abstract

We present an Aboriginal Australian genomic sequence obtained from a 100-year-old lock of hair donated by an Aboriginal man from southern Western Australia in the early 20th century. We detect no evidence of European admixture and estimate contamination levels to be below 0.5%. We show that Aboriginal Australians are descendants of an early human dispersal into eastern Asia, possibly 62,000 to 75,000 years ago. This dispersal is separate from the one that gave rise to modern Asians 25,000 to 38,000 years ago. We also find evidence of gene flow between populations of the two dispersal waves prior to the divergence of Native Americans from modern Asian ancestors. Our findings support the hypothesis that present-day Aboriginal Australians descend from the earliest humans to occupy Australia, likely representing one of the oldest continuous populations outside Africa.

Figures

Fig 1
Fig 1
(A) The two models for early dispersal of modern humans into eastern Asia. Top: Single-dispersal model predicting a single early dispersal of modern humans into eastern Asia. Bottom: Multiple-dispersal model predicting separate dispersals into eastern Asia of aboriginal Australasians and the ancestors of most other present-day East Asians. AF, Africans; EU, Europeans; ASN, Asians; ABR, Aboriginal Australians. Arrow symbolizes gene flow. (B) PCA plot (PC1 versus PC2) of the studied populations and the ancient genome of the Aboriginal Australian (marked with a cross). Inset shows the greater Australia populations (4). (C) Ancestry proportions of the studied 1220 individuals from 79 populations and the ancient Aboriginal Australian as revealed by the ADMIXTURE program (28) with K = 5, K = 11, and K = 20. A stacked column of the K proportions represents each individual, with fractions indicated on the y axis [see (4) for the choice of K]. The greater Australia populations are shown in detail at the upper right.
Fig 2
Fig 2
Reconstruction of early spread of modern humans outside Africa. The tree shows the divergence of the Aboriginal Australian (ABR) relative to the CEPH European (CEU) and the Han Chinese (HAN) with gene flow between aboriginal Australasians and Asian ancestors. Purple arrow shows early spread of the ancestors of Aboriginal Australians into eastern Asia ~62,000 to 75,000 years B.P. (ka BP), exchanging genes with Denisovans, and reaching Australia ~50,000 years B.P. Black arrow shows spread of East Asians ~25,000 to 38,000 years B.P. and admixing with remnants of the early dispersal (red arrow) some time before the split between Asians and Native American ancestors ~15,000 to 30,000 years B.P. YRI, Yoruba.

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