Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis

doi:10.1073/pnas.0702928104

Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis

^aEstonian Biocentre and Tartu University, Department of Evolutionary Biology, Riia 23, 51010 Tartu, Estonia;
^bLeverhulme Centre for Human Evolutionary Studies, University of Cambridge, Cambridge CB2 1QH, United Kingdom;
^dDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5120;
^eDepartment of Zoology, University of Oxford, Oxford OX1 3PS, United Kingdom;
^fNational Institute of Toxicology and Forensic Science, Canary Islands Delegation, Campus de Ciencias de la Salud, 38320 La Laguna, Tenerife, Spain;
^gStanford Genome Technology Center, Palo Alto, CA 94304;
^hInstitute of Functional Genomics, University of Regensburg, Josef-Engert-Strasse 9, 93053 Regensburg, Germany;
ⁱMcDonald Institute for Archaeological Research, University of Cambridge, Downing Street, Cambridge CB2 3ER, United Kingdom; and
^jDepartment of Forensic Science and Chemistry, Faculty of Science and Technology, Anglia Ruskin University, East Road, Cambridge CB1 1PT, United Kingdom

Contributed by Colin Renfrew, March 30, 2007 (received for review February 23, 2007)

Abstract

Published and new samples of Aboriginal Australians and Melanesians were analyzed for mtDNA (n = 172) and Y variation (n = 522), and the resulting profiles were compared with the branches known so far within the global mtDNA and the Y chromosome tree. (i) All Australian lineages are confirmed to fall within the mitochondrial founder branches M and N and the Y chromosomal founders C and F, which are associated with the exodus of modern humans from Africa ≈50–70,000 years ago. The analysis reveals no evidence for any archaic maternal or paternal lineages in Australians, despite some suggestively robust features in the Australian fossil record, thus weakening the argument for continuity with any earlier Homo erectus populations in Southeast Asia. (ii) The tree of complete mtDNA sequences shows that Aboriginal Australians are most closely related to the autochthonous populations of New Guinea/Melanesia, indicating that prehistoric Australia and New Guinea were occupied initially by one and the same Palaeolithic colonization event ≈50,000 years ago, in agreement with current archaeological evidence. (iii) The deep mtDNA and Y chromosomal branching patterns between Australia and most other populations around the Indian Ocean point to a considerable isolation after the initial arrival. (iv) We detect only minor secondary gene flow into Australia, and this could have taken place before the land bridge between Australia and New Guinea was submerged ≈8,000 years ago, thus calling into question that certain significant developments in later Australian prehistory (the emergence of a backed-blade lithic industry, and the linguistic dichotomy) were externally motivated.

Footnotes

^cTo whom correspondence may be addressed. E-mail: tk331{at}cam.ac.uk or renfrew{at}mcdonald.cam.ac.jk
Author contributions: T.K., P.A.U., R.V., and P.F. designed research; G.H., A.A.L., and P.S. performed research; P.E., J.J.S., P.O., and P.F. contributed new reagents/analytic tools; G.H., T.K., and P.A.U. analyzed data; and G.H., T.K., P.A.U., P.E., J.J.S., C.R., R.V., and P.F. wrote the paper.
The authors declare no conflict of interest.
Data deposition: The sequences reported in this paper have been deposited in the GenBank database [accession nos. EF495214–EF495222 (complete mtDNA sequences), EF524341–EF524420 (mtDNA HVS-1 sequences), and EF524421–EF524500 (partial HVS-2 sequences)].
This article contains supporting information online at www.pnas.org/cgi/content/full/0702928104/DC1.
Abbreviations:

NG,

New Guinea;

SBE,

single-base extension.