title: Aboriginal Australian mitochondrial genome variation - an increased understanding of population antiquity and diversity.
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.
authors.affiliation: Department of Biochemistry and Genetics, La Trobe Institute for Molecular Sciences, La Trobe University, Melbourne, Victoria, Australia.
authors.forename: Nano
authors.initials: N
authors.lastname: Nagle
authors.affiliation: Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, The Netherlands.
authors.forename: Mannis
authors.initials: M
authors.lastname: van Oven
authors.affiliation: Australian Genome Research Facility, Melbourne, Victoria, Australia.
authors.forename: Stephen
authors.initials: S
authors.lastname: Wilcox
authors.affiliation: Biotechnology and Biomolecular Sciences, University of New South Wales, New South Wales, Australia.|School of Biological Sciences, University of Sydney, Sydney, Australia.
authors.forename: Sheila
authors.initials: S
authors.lastname: van Holst Pellekaan
authors.affiliation: The Wellcome Trust Sanger Institute, Welcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.affiliation: The Wellcome Trust Sanger Institute, Welcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
authors.forename: Yali
authors.initials: Y
authors.lastname: Xue
authors.affiliation: Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, The Netherlands.|Office of the Chief Forensic Scientist, Victoria Police Forensic Services Department, Melbourne, Victoria, Australia.
authors.forename: Kaye N
authors.initials: KN
authors.lastname: Ballantyne
authors.affiliation: Department of Biochemistry and Genetics, La Trobe Institute for Molecular Sciences, La Trobe University, Melbourne, Victoria, Australia.
authors.forename: Leah
authors.initials: L
authors.lastname: Wilcox
authors.affiliation: Department of Biochemistry and Genetics, La Trobe Institute for Molecular Sciences, La Trobe University, Melbourne, Victoria, Australia.
authors.forename: Luka
authors.initials: L
authors.lastname: Papac
authors.affiliation: Department of Biochemistry and Genetics, La Trobe Institute for Molecular Sciences, La Trobe University, Melbourne, Victoria, Australia.
authors.forename: Karen
authors.initials: K
authors.lastname: Cooke
authors.affiliation: Office of the Chief Forensic Scientist, Victoria Police Forensic Services Department, Melbourne, Victoria, Australia.
authors.forename: Roland A H
authors.initials: RA
authors.lastname: van Oorschot
authors.affiliation: Griffith University, Queensland, Australia.
authors.forename: Peter
authors.initials: P
authors.lastname: McAllister
authors.affiliation: Community Elder and Cultural Advisor, Brisbane, Queensland, Australia.
authors.forename: Lesley
authors.initials: L
authors.lastname: Williams
authors.affiliation: Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, The Netherlands.
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
authors.affiliation: Department of Biochemistry and Genetics, La Trobe Institute for Molecular Sciences, La Trobe University, Melbourne, Victoria, Australia.
authors.forename: R John
authors.initials: RJ
authors.lastname: Mitchell
mesh_terms: D001315:Australia; D014644:Genetic Variation; D054629:Genome, Mitochondrial; D006801:Humans; D010802:Phylogeny; D017422:Sequence Analysis, DNA