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Sci Rep. 2017 Mar 13;7:43041. doi: 10.1038/srep43041.

Aboriginal Australian mitochondrial genome variation - an increased understanding of population antiquity and diversity.

Author information

1
Department of Biochemistry and Genetics, La Trobe Institute for Molecular Sciences, La Trobe University, Melbourne, Victoria, Australia.
2
Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, The Netherlands.
3
Australian Genome Research Facility, Melbourne, Victoria, Australia.
4
Biotechnology and Biomolecular Sciences, University of New South Wales, New South Wales, Australia.
5
School of Biological Sciences, University of Sydney, Sydney, Australia.
6
The Wellcome Trust Sanger Institute, Welcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
7
Office of the Chief Forensic Scientist, Victoria Police Forensic Services Department, Melbourne, Victoria, Australia.
8
Griffith University, Queensland, Australia.
9
Community Elder and Cultural Advisor, Brisbane, Queensland, Australia.

Abstract

Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 thousand years ago. Genetic studies, though limited, have demonstrated both the uniqueness and antiquity of Aboriginal Australian genomes. We have further resolved known Aboriginal Australian mitochondrial haplogroups and discovered novel indigenous lineages by sequencing the mitogenomes of 127 contemporary Aboriginal Australians. In particular, the more common haplogroups observed in our dataset included M42a, M42c, S, P5 and P12, followed by rarer haplogroups M15, M16, N13, O, P3, P6 and P8. We propose some major phylogenetic rearrangements, such as in haplogroup P where we delinked P4a and P4b and redefined them as P4 (New Guinean) and P11 (Australian), respectively. Haplogroup P2b was identified as a novel clade potentially restricted to Torres Strait Islanders. Nearly all Aboriginal Australian mitochondrial haplogroups detected appear to be ancient, with no evidence of later introgression during the Holocene. Our findings greatly increase knowledge about the geographic distribution and phylogenetic structure of mitochondrial lineages that have survived in contemporary descendants of Australia's first settlers.

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