Mitochondrial Control-Region Sequence Variation in Aboriginal Australians

Abstract

The mitochondrial D-loop hypervariable segment 1 (mt HVS1) between nucleotides 15997 and 16377 has been examined in aboriginal Australian people from the Darling River region of New South Wales (riverine) and from Yuendumu in central Australia (desert). Forty-seven unique HVS1 types were identified, varying at 49 nucleotide positions. Pairwise analysis by calculation of BEPPI (between population proportion index) reveals statistically significant structure in the populations, although some identical HVS1 types are seen in the two contrasting regions. mt HVS1 types may reflect more-ancient distributions than do linguistic diversity and other culturally distinguishing attributes. Comparison with sequences from five published global studies reveals that these Australians demonstrate greatest divergence from some Africans, least from Papua New Guinea highlanders, and only slightly more from some Pacific groups (Indonesian, Asian, Samoan, and coastal Papua New Guinea), although the HVS1 types vary at different nucleotide sites. Construction of a median network, displaying three main groups, suggests that several hypervariable nucleotide sites within the HVS1 are likely to have undergone mutation independently, making phylogenetic comparison with global samples by conventional methods difficult. Specific nucleotide-site variants are major separators in median networks constructed from Australian HVS1 types alone and for one global selection. The distribution of these, requiring extended study, suggests that they may be signatures of different groups of prehistoric colonizers into Australia, for which the time of colonization remains elusive.

Mitochondrial Genome Variation and Evolutionary History of Australian and New Guinean Aborigines

“…This is consistent with analyses that previously reported on diversity in the mitochondrial D-loop of Australian Aborigine and New Guinea highland populations. A study of HVS1 found that Australian Aborigines from a riverine population tend to have higher MPSD than that of the African !Kung population (van Holst Pellekaan et al 1998). Another analysis of mitochondrial D-loop sequences also reported high nucleotide diversity in Australia, but lower than the values found in Asian and New Guinea highland populations (Redd and Stoneking 1999).…”

“…Through the re-dating of the Lake Mungo skeletal remains (Thorne et al 1999;Bowler et al 2003) and as a result of several other studies (Roberts et al 1990(Roberts et al , 1994(Roberts et al , 2001), a date of 40,000-60,000 years ago is now generally accepted. The only estimate of a genetic coalescent for Australian Aborigines with individuals from outside Australia is based on mitochondrial HVS1 sequences and ranges from 60,000-119,000 years ago, depending on which substitution rate is used (van Holst Pellekaan et al 1998). In addition, an expansion date of 51,000-85,000 years ago for Australian Aborigines was estimated from mitochondrial D-loop sequences (Redd and Stoneking 1999).…”

Human cranial anatomy and the differential preservation of population history and climate signatures

“…As before (Harvati and Weaver, 2006), the geographic distance between the matched genetic and morphological samples was greatest in two cases: the Australian morphological sample was not represented in the genetic data set and was coupled with a sample from Papua, New Guinea, which is geographically the closest group included in the genetic data set. Australian and Papuan New Guinea populations are thought to share a common origin and to be genetically similar (van Holst Pellekaan et al, 1998;Kayser et al, 2001). The Greenland Inugsuk morphological sample was matched with a Siberian population.…”

Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis

“…1 (4,21,(23)(24)(25)(26)(27)29) and has so far not been detected elsewhere in the world, based on the available global mtDNA database of Ͼ40,000 sequences (49). This branch is distinguished from the root of macrohaplogroup N by a transition at nucleotide position 8404.…”

“…1 (4,(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)], we can now attempt to clarify some of the salient features of the record of Australian population history and confirm its considerable isolation.…”