1. Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity
- Author
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Nagle, N, Van Oven, M, Wilcox, S, Van Holst Pellekaan, S, Tyler-Smith, C, Xue, Y, Ballantyne, KN, Wilcox, L, Papac, L, Cooke, K, Van Oorschot, RAH, McAllister, P, Williams, L, Kayser, M, Mitchell, RJ, Adhikarla, S, Adler, CJ, Balanovska, E, Balanovsky, O, Bertranpetit, J, Clarke, AC, Comas, D, Cooper, A, Der Sarkissian, CSI, Dulik, MC, Gaieski, JB, Kumar, A, Prasad, G, Haak, W, Haber, M, Hobbs, A, Javed, A, Jin, L, Kaplan, ME, Li, S, Martinez-Cruz, B, Matisoo-Smith, EA, Mele, M, Merchant, NC, Owings, AC, Parida, L, Pitchappan, R, Platt, DE, Quintana-Murci, L, Renfrew, C, Royyuru, AK, Santhakumari, AV, Santos, FR, Schurr, TG, Soodyall, H, Soria Hernanz, DF, Swamikrishnan, P, Vilar, MG, Wells, RS, Zalloua, PA, Ziegle, JS, Martinez Cruz, B, Genetic Identification, La Trobe University [Melbourne], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Australian Genome Research Facility, University of Queensland [Brisbane], University of New South Wales [Canberra Campus] (UNSW), The University of Sydney, The Wellcome Trust Sanger Institute [Cambridge], Griffith University [Brisbane], The Genographic Project was supported by National Geographic Society, IBM and the Waitt Family Foundation. Y.L.X. and C.T.-S. were supported by The Wellcome Trust (098051). M.K., M.v.O., and K.N.B. were supported by Erasmus M.C., and We gratefully acknowledge the participation of Aboriginal Australians from Victoria, Queensland, the Northern Territory, South Australia, Western Australia and Tasmania whose collaboration made this study possible. We owe Tammy Williams and Jason Tatipata many thanks for their support throughout this study.
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0301 basic medicine ,Mitochondrial DNA ,Native Hawaiian or Other Pacific Islander ,[SDV]Life Sciences [q-bio] ,Population ,Evolutionary biology ,Biology ,Article ,Haplogroup ,03 medical and health sciences ,0302 clinical medicine ,Phylogenetics ,Genetics ,Humans ,Clade ,education ,QH426 ,Phylogeny ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,education.field_of_study ,Multidisciplinary ,Phylogenetic tree ,Haplotype ,Australia ,Genetic Variation ,Sequence Analysis, DNA ,030104 developmental biology ,Haplotypes ,Genome, Mitochondrial ,030217 neurology & neurosurgery ,Human mitochondrial DNA haplogroup - 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.
- Published
- 2017
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