Aboriginal mitogenomes reveal 50,000 years of regionalism in Australia

Abstract

Aboriginal Australians represent one of the longest continuous cultural complexes known. Archaeological evidence indicates that Australia and New Guinea were initially settled approximately 50 thousand years ago (ka); however, little is known about the processes underlying the enormous linguistic and phenotypic diversity within Australia. Here we report 111 mitochondrial genomes (mitogenomes) from historical Aboriginal Australian hair samples, whose origins enable us to reconstruct Australian phylogeographic history before European settlement. Marked geographic patterns and deep splits across the major mitochondrial haplogroups imply that the settlement of Australia comprised a single, rapid migration along the east and west coasts that reached southern Australia by 49-45 ka. After continent-wide colonization, strong regional patterns developed and these have survived despite substantial climatic and cultural change during the late Pleistocene and Holocene epochs. Remarkably, we find evidence for the continuous presence of populations in discrete geographic areas dating back to around 50 ka, in agreement with the notable Aboriginal Australian cultural attachment to their country.

High and variable population prevalence of HLA‐B*56:02 in indigenous Australians and relation to phenytoin‐associated drug reaction with eosinophilia and systemic symptoms

“…We provide further evidence that phenytoin DRESS in Aboriginal Australians is associated with HLA‐B*56:02 and that the carriage of this allele is prevalent, but also variable in different geographic indigenous Australian populations compared to Europeans. This supports previous findings of mitochondrial genome variation in Aboriginal Australians …”

Genome of the Tasmanian tiger provides insights into the evolution and demography of an extinct marsupial carnivore

“…One hundred bootstrap replicates for each species are shown as thinner lines of the same colour. Vertical grey lines indicate the approximate timing of the arrival of ancestral Australian Aboriginals in Australia (~48,800 years ago, based on synthesis of archaeological evidence 107 ) and the isolation of Tasmania from the Australian mainland (~14,000 years ago, based on shoreline reconstructions 2 ). N e denotes effective population size.…”

Carriers of mitochondrial DNA macrohaplogroup R colonized Eurasia and Australasia from a southeast Asia core area

“…In addition, authors propose the Near East as the most probable expansion center of U7 while we situated the born of this haplogroup around southern Kazakhstan (Table 1). In the second article [164], authors intend to reconstruct the Australian mtDNA phylogeographic history before the European settlement. The strongly differentiated patterns detected between the East and West continental regions are highly coincident with those proposed in this study.…”