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

Nagle, Nano; van Oven, Mannis; Wilcox, Stephen; van Holst Pellekaan, Sheila; Tyler-Smith, Chris; Xue, Yali; Ballantyne, Kaye N.; Wilcox, Leah; Papac, Luka; Cooke, Karen; van Oorschot, Roland A. H.; McAllister, Peter; Williams, Lesley; Manfred, Kayser; Mitchell, R. John; Genographic Consortium; Bertranpetit, Jaume, 1952-; Comas, David, 1969-; Haber, Marc, 1980-; Martínez Cruz, Begoña; Melé Messeguer, Marta, 1982-

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

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dc.contributor.author Nagle, Nanoca
dc.contributor.author van Oven, Mannisca
dc.contributor.author Wilcox, Stephenca
dc.contributor.author van Holst Pellekaan, Sheilaca
dc.contributor.author Tyler-Smith, Chrisca
dc.contributor.author Xue, Yalica
dc.contributor.author Ballantyne, Kaye N.ca
dc.contributor.author Wilcox, Leahca
dc.contributor.author Papac, Lukaca
dc.contributor.author Cooke, Karenca
dc.contributor.author van Oorschot, Roland A. H.ca
dc.contributor.author McAllister, Peterca
dc.contributor.author Williams, Lesleyca
dc.contributor.author Manfred, Kayserca
dc.contributor.author Mitchell, R. Johnca
dc.contributor.author Genographic Consortiumca
dc.contributor.author Bertranpetit, Jaume, 1952-ca
dc.contributor.author Comas, David, 1969-ca
dc.contributor.author Haber, Marc, 1980-ca
dc.contributor.author Martínez Cruz, Begoñaca
dc.contributor.author Melé Messeguer, Marta, 1982-ca
dc.date.accessioned 2017-06-20T12:05:20Z
dc.date.available 2017-06-20T12:05:20Z
dc.date.issued 2017
dc.description.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.
dc.format.mimetype application/pdfca
dc.identifier.citation Nagle N, van Oven M, Wilcox S, van Holst Pellekaan S, Tyler-Smith C, Xue Y et al. Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity. Scientific Reports. 2017;7:43041. DOI: 10.1038/srep43041
dc.identifier.doi http://dx.doi.org/10.1038/srep43041
dc.identifier.issn 2045-2322
dc.identifier.uri http://hdl.handle.net/10230/32381
dc.language.iso eng
dc.publisher Nature Publishing Groupca
dc.relation.ispartof Scientific Reports. 2017;7:43041
dc.rights © Nature Publishing Group. 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 http://creativecommons.org/licenses/by/4.0/
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.keyword Evolutionary biology
dc.subject.keyword Genetics
dc.subject.keyword Haplotypes
dc.title Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversityca
dc.type info:eu-repo/semantics/article
dc.type.version info:eu-repo/semantics/publishedVersion

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