Ancient mtDNA sequences from the First Australians revisited.
The publication in 2001 by Adcock et al. [Adcock GJ, et al. (2001) Proc Natl Acad Sci USA 98(2):537-542] in PNAS reported the recovery of short mtDNA sequences from ancient Australians, including the 42,000-y-old Mungo Man [Willandra Lakes Hominid (WLH3)]. This landmark study in human ancient DNA suggested that an early modern human mitochondrial lineage emerged in Asia and that the theory of modern human origins could no longer be considered solely through the lens of the "Out of Africa" model. To evaluate these claims, we used second generation DNA sequencing and capture methods as well as PCR-based and single-primer extension (SPEX) approaches to reexamine the same four Willandra Lakes and Kow Swamp 8 (KS8) remains studied in the work by Adcock et al. Two of the remains sampled contained no identifiable human DNA (WLH15 and WLH55), whereas the Mungo Man (WLH3) sample contained no Aboriginal Australian DNA. KS8 reveals human mitochondrial sequences that differ from the previously inferred sequence. Instead, we recover a total of five modern European contaminants from Mungo Man (WLH3). We show that the remaining sample (WLH4) contains ∼1.4% human DNA, from which we assembled two complete mitochondrial genomes. One of these was a previously unidentified Aboriginal Australian haplotype belonging to haplogroup S2 that we sequenced to a high coverage. The other was a contaminating modern European mitochondrial haplotype. Although none of the sequences that we recovered matched those reported by Adcock et al., except a contaminant, these findings show the feasibility of obtaining important information from ancient Aboriginal Australian remains.
Environmental Futures Research Institute, Griffith University, Nathan, QLD 4111, Australia;
Tim H
0000-0001-6237-3898
TH
Heupink
Environmental Futures Research Institute, Griffith University, Nathan, QLD 4111, Australia;
Sankar
S
Subramanian
Environmental Futures Research Institute, Griffith University, Nathan, QLD 4111, Australia;
Joanne L
JL
Wright
Department of Zoology, Oxford University, Oxford OX1 2JD, United Kingdom;
Phillip
P
Endicott
Environmental Futures Research Institute, Griffith University, Nathan, QLD 4111, Australia;
Michael Carrington
MC
Westaway
Environmental Futures Research Institute, Griffith University, Nathan, QLD 4111, Australia;
Leon
L
Huynen
Institute of Legal Medicine, Innsbruck Medical University, 6020 Innsbruck, Austria; Forensic Science Program, The Pennsylvania State University, University Park, PA 16801;
Walther
W
Parson
Allan Wilson Centre for Molecular Ecology and Evolution, School of Biological Sciences, University of Auckland, Auckland 1142, New Zealand;
Craig D
CD
Millar
Centre for GeoGenetics, University of Copenhagen, 1017 Copenhagen, Denmark ewillerslev@snm.ku.dk d.lambert@griffith.edu.au.
Eske
E
Willerslev
Environmental Futures Research Institute, Griffith University, Nathan, QLD 4111, Australia; ewillerslev@snm.ku.dk d.lambert@griffith.edu.au.
David M
DM
Lambert
D001315:Australia; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D016013:Likelihood Functions; D010802:Phylogeny
D004272:DNA, Mitochondrial
Aboriginal Australians; ancient DNA; anthropology; biological sciences; mitogenomics