title: Mitochondrial DNA diversity of present-day Aboriginal Australians and implications for human evolution in Oceania.
abstract: Aboriginal Australians are one of the more poorly studied populations from the standpoint of human evolution and genetic diversity. Thus, to investigate their genetic diversity, the possible date of their ancestors' arrival and their relationships with neighboring populations, we analyzed mitochondrial DNA (mtDNA) diversity in a large sample of Aboriginal Australians. Selected mtDNA single-nucleotide polymorphisms and the hypervariable segment haplotypes were analyzed in 594 Aboriginal Australians drawn from locations across the continent, chiefly from regions not previously sampled. Most (~78%) samples could be assigned to mtDNA haplogroups indigenous to Australia. The indigenous haplogroups were all ancient (with estimated ages >40 000 years) and geographically widespread across the continent. The most common haplogroup was P (44%) followed by S (23%) and M42a (9%). There was some geographic structure at the haplotype level. The estimated ages of the indigenous haplogroups range from 39 000 to 55 000 years, dates that fit well with the estimated date of colonization of Australia based on archeological evidence (~47 000 years ago). The distribution of mtDNA haplogroups in Australia and New Guinea supports the hypothesis that the ancestors of Aboriginal Australians entered Sahul through at least two entry points. The mtDNA data give no support to the hypothesis of secondary gene flow into Australia during the Holocene, but instead suggest long-term isolation of the continent.
authors.affiliation: Department of Biochemistry and Genetics, La Trobe University, Melbourne, VIC, Australia.
authors.forename: Nano
authors.initials: N
authors.lastname: Nagle
authors.affiliation: Office of the Chief Forensic Scientist, Victorian Police Forensic Services Department, Melbourne, VIC, Australia.|Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
authors.forename: Kaye N
authors.initials: KN
authors.lastname: Ballantyne
authors.affiliation: Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
authors.forename: Mannis
authors.initials: M
authors.lastname: van Oven
authors.affiliation: The Wellcome Trust Sanger Institute, Welcome Trust Genome Campus, Hinxton, Cambridgeshire, UK.
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.affiliation: The Wellcome Trust Sanger Institute, Welcome Trust Genome Campus, Hinxton, Cambridgeshire, UK.
authors.forename: Yali
authors.initials: Y
authors.lastname: Xue
authors.affiliation: Australian Genome Research Facility, Melbourne, VIC, Australia.
authors.forename: Stephen
authors.initials: S
authors.lastname: Wilcox
authors.affiliation: Department of Biochemistry and Genetics, La Trobe University, Melbourne, VIC, Australia.
authors.forename: Leah
authors.initials: L
authors.lastname: Wilcox
authors.affiliation: Australian Genome Research Facility, Melbourne, VIC, Australia.
authors.forename: Rust
authors.initials: R
authors.lastname: Turkalov
authors.affiliation: Office of the Chief Forensic Scientist, Victorian Police Forensic Services Department, Melbourne, VIC, Australia.
authors.forename: Roland A H
authors.initials: RA
authors.lastname: van Oorschot
authors.affiliation: School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW, Australia.|School of Biological Sciences, University of Sydney, Camperdown, NSW, Australia.
authors.forename: Sheila
authors.initials: S
authors.lastname: van Holst Pellekaan
authors.affiliation: Department of Anthropology, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Theodore G
authors.initials: TG
authors.lastname: Schurr
authors.affiliation: Griffith University, Nathan, QLD, Australia.
authors.forename: Peter
authors.initials: P
authors.lastname: McAllister
authors.affiliation: Community Elder and Cultural Advisor, Brisbane, QLD, Australia.
authors.forename: Lesley
authors.initials: L
authors.lastname: Williams
authors.affiliation: Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
authors.affiliation: Department of Biochemistry and Genetics, La Trobe University, Melbourne, VIC, Australia.
authors.forename: R John
authors.initials: RJ
authors.lastname: Mitchell
mesh_terms: D005075:Biological Evolution; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000266:history; D005260:Female; D051456:Gene Flow; D014644:Genetic Variation; D006239:Haplotypes; D049674:History, 21st Century; D049690:History, Ancient; D006801:Humans; D008297:Male; D044349:Oceania; D010163:Paleontology; D010802:Phylogeny; D058974:Phylogeography; D020641:Polymorphism, Single Nucleotide; D060047:Reproductive Isolation
chemical_list: D004272:DNA, Mitochondrial