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.
The human occupation history of Southeast Asia (SEA) remains heavily debated. Current evidence suggests that SEA was occupied by Hòabìnhian hunter-gatherers until ~4000 years ago, when farming economies developed and expanded, restricting foraging groups to remote habitats. Some argue that agricultural development was indigenous; others favor the "two-layer" hypothesis that posits a southward expansion of farmers giving rise to present-day Southeast Asian genetic diversity. By sequencing 26 ancient human genomes (25 from SEA, 1 Japanese Jōmon), we show that neither interpretation fits the complexity of Southeast Asian history: Both Hòabìnhian hunter-gatherers and East Asian farmers contributed to current Southeast Asian diversity, with further migrations affecting island SEA and Vietnam. Our results help resolve one of the long-standing controversies in Southeast Asian prehistory.
The origin and patterns of dispersal of anatomically modern humans are the focus of considerable debate1-3. Global genetic analyses have argued for one single origin, placed somewhere in Africa4-7. This scenario implies a rapid expansion, with a series of bottlenecks of small amplitude, which would have led to the observed smooth loss of genetic diversity with increasing distance from Africa. Analyses of cranial data, on the other hand, have given mixed results8-12, and have been argued to support multiple origins of modern humans2, 9, 12. Using a large dataset of skull measurements and an analytical framework equivalent to the one used for genetic data, we show that the loss in genetic diversity has been mirrored by a loss in phenotypic variability. We find evidence for an African origin, placed somewhere in the central/southern part of the continent, which harbours the highest intra-population diversity in phenotypic traits. We failed to find evidence for a second origin and confirm these results on a large genetic dataset. Distance from Africa accounts for an average 19% -25% of heritable variation in craniometric traits, a remarkably strong effect for phenotypic traits known to be under selection.The origin of anatomically modern humans has been the focus of much heated debate1, 3. Recent large scale genetic analyses4-7 seem to support the idea that all modern humans originated from a single location (single origin hypothesis, SO). More specifically, all studies point to Africa as the putative cradle of modern humans. If rapid, the expansion out of Africa would imply progressive loss of genetic diversity through a series of founder events (bottlenecks), a prediction that has recently received empirical support4-6. Heterozygosity declines monotonically with distance from east Africa, with South American populations carrying 64% of the neutral variability (as measured from microsatellites) found in African populations. This view is further supported by some archaeological and anthropological evidence1. However, studies of craniometric data have yielded mixed results8-12, and the presence of archaic human-like traits in skulls that would be otherwise classified as H. sapiens in several continents has been interpreted as evidence for multiple origins (multiregional hypothesis, MR)2, 12.An important step towards an univocal answer regarding the number of origins of modern humans would be to analyse the phenotypic (cranial) traits using the same approach used for genetic traits. The alternative models (SO and MR) make clear predictions about how craniometric diversity should be distributed. Under SO, we expect to find a monotonic decrease in phenotypic variability analogous to that seen for genetic traits (unless the sampling process is so strong as to destabilise canalisation through the loss of genetic diversity)13, 14. In contrast, multiple origins should lead to several clines, the magnitude of each cline being determined by the relative contribution of its origin. To test these predictions, we used an...
The ability of cranial morphology to reflect population/phylogenetic history, and the degree to which it might be influenced by environmental factors and selection pressures have been widely discussed. Recent consensus views cranial morphology as largely indicative of population history in humans, with some anatomical cranial regions/measurements being more informative on population history, while others being under selection pressure. We test earlier findings using the largest and most diverse cranial dataset available as yet: 7,423 male specimens from 135 geographic human population samples represented by 33 standard craniometric linear measurements. We calculated Mahalanobis D 2 for three datasets: complete cranial dataset; facial measurement dataset; and neurocranial measurement dataset; these morphological distance matrices were then compared to matrices of geographic distances as well as of several climatic variables. Additionally, we calculated Fst values for our cranial measurements and compared the results to the expected Fst values for neutral genetic loci. Our findings support the hypothesis that cranial, and especially neurocranial morphology, is phylogenetically informative, and that aspects of the face and cranium are subject to selection related to climatic factors. The Fst analysis suggest that selection to climate is largely restricted to groups living in extremely cold environments, including Northeast Asia, North America, and Northern Europe, though each of these regions appears to have arrived at their morphology through distinct adaptive pathways. Anat Rec, 292:1720Rec, 292: -1733Rec, 292: , 2009. Key words: Fst; craniometrics; adaptation; population history; human variation; NeanderthalsThe degree to which human cranial morphology reflects population history or adaptive and developmental changes related to environmental conditions is the subject of ongoing scientific discussion in anthropology. Our understanding of the evolutionary processes affecting morphological variation directly impacts both the study of modern human geographic diversity as well as the interpretation of the human fossil record. The relevance of cranial morphology to phylogenetic reconstruction has been questioned in the past (see e.g., Collard and Wood, 2000), and convergence, parallelism, reversals, and environmen-
The relative importance of ancient demography and climate in determining worldwide patterns of human within-population phenotypic diversity is still open to debate. Several morphometric traits have been argued to be under selection by climatic factors, but it is unclear whether climate affects the global decline in morphological diversity with increasing geographical distance from sub-Saharan Africa. Using a large database of male and female skull measurements, we apply an explicit framework to quantify the relative role of climate and distance from Africa. We show that distance from sub-Saharan Africa is the sole determinant of human within-population phenotypic diversity, while climate plays no role. By selecting the most informative set of traits, it was possible to explain over half of the worldwide variation in phenotypic diversity. These results mirror those previously obtained for genetic markers and show that 'bones and molecules' are in perfect agreement for humans.
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