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Type: Journal article
Title: Aboriginal Australian mitochondrial genome variation - an increased understanding of population antiquity and diversity
Author: Nagle, N.
Van Oven, M.
Wilcox, S.
Van Holst Pellekaan, S.
Tyler-Smith, C.
Xue, Y.
Ballantyne, K.
Wilcox, L.
Papac, L.
Cooke, K.
Van Oorschot, R.
McAllister, P.
Williams, L.
Kayser, M.
Mitchell, R.
Adhikarla, S.
Adler, C.
Balanovska, E.
Balanovsky, O.
Bertranpetit, J.
et al.
Citation: Scientific Reports, 2017; 7(1):1-12
Publisher: Springer Nature
Issue Date: 2017
ISSN: 2045-2322
Statement of
Nano Nagle, Mannis van Oven, Stephen Wilcox, Sheila van Holst Pellekaan, Chris Tyler-Smith, Yali Xue, Kaye N. Ballantyne, Leah Wilcox, Luka Papac, Karen Cooke, Roland A. H. van Oorschot, Peter McAllister, Lesley Williams, Manfred Kayser, R. John Mitchell, The Genographic Consortium
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.
Keywords: Genographic Consortium
Sequence Analysis, DNA
Genome, Mitochondrial
Genetic Variation
Native Hawaiian or Other Pacific Islander
Rights: © The Author(s) 2017. This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit
DOI: 10.1038/srep43041
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