Origins of the Australian and New Guinean Aborigines

Sheila M van Holst Pellekaan, University of New South Wales, Sydney, Australia

Published online: March 2013

DOI: 10.1002/9780470015902.a0020815.pub2

Mitochondrial deoxyribonucleic acid (mtDNA), Y chromosome and limited genomic studies indicate deep ancestry for both Australia and New Guinea peoples, with evidence for limited, shared genetic connection as well as ancient lineages specific to both places. Estimates of divergence from the Revised Sapiens Reference Sequence (Behar et al., 2012) indicate that mtDNA haplogroups of living populations in Melanesia and Australia represent some of the oldest lineages outside Africa, founders having arrived there at least 50 000 years ago. Several entry points into Sahul during periods of glacial maxima might explain haplotype distribution. Distinctions between them and other near neighbours also indicate genetic isolation for long periods after sea levels rose. Phylogenies that explore genetic similarities/differences between peoples of Sahul and Asia suggest that migration routes through northern Asia as well as by a southern coastal route are likely scenarios, as no single regional source population is identifiable.

Key Concepts:

  • Australia and New Guinea were connected by a land bridge during periods of global glaciation forming a land mass known as Sahul, separated from Sunda.
  • Evidence indicates that people arrived in Sahul approximately 50–60 thousand years ago.
  • After the Last Glacial Maximum (LGM), Australia and New Guinea were gradually separated and the populations were relatively isolated from each other.
  • People dispersed throughout the Australian continent by 40 thousand years ago.
  • Participation in genetic research by descendants of the ‘First Sahulians’ is relatively rare and they are under-represented in global studies.
  • There is resistance from some descendants of the First Australians for many reasons including distrust generated by poor research practices of the past.
  • Studies that include indigenous researchers as well as participants are likely to encourage, facilitate and improve representation.
  • Those Aboriginal Australians who have participated in genetic research have contributed valuable data that enrich the global story of human diasporation and their own communal and personal history.
  • Mitochondrial DNA (mtDNA) and Y-chromosome analyses are particularly suitable for exploring recent human genetic history, whereas genome-wide analyses are necessary for probing more deeply into population origins.
  • Complex population histories in Asia suggest different scenarios for likely routes and entry points for founding groups in Sahul.

Keywords: human origins; Australia; New Guinea; Sahul; aborigines

Figure 1. Neighbour-joining (NJ) phylogeny (Tamura et al., 2011) of 91 sequences including African sequences L0/AY963585 (Macaulay et al., 2005); L1/AY195777, L2/AY195788 and the RSRS (Behar et al., 2012). References for the Australian and NG sequences shown in subtrees (Figure 3, Figure 4 and Figure 5) are: Ingman et al. (2000), Ingman and Gyllensten (2003), Friedlaender et al. (2005), van Holst Pellekaan et al. (2006), Kivisild et al. (2006), Hudjashov et al. (2007), Friedlaender et al. (2007) and Rassmussen et al. (2011). Australian sequences are coloured as: M, green; S, red; O, magenta; P4b, dark blue and other P, light blue. Regional prefixes: Au, Australia; Aud, Australian Desert; Aur, Australian Riverine; AuWA, Australia Western Australia; ENB, East New Britain; Mel, Melanesia; NI, New Ireland; Oc, Oceania; PNGHi, Papua New Guinea Highland; PNGCo, Papua New Guinea Coastal, TRO, Trobriand Is.; WNB, West New Britain and WNG, West New Guinea.
Figure 2. Condensed Neighbour-joining (NJ) phylogeny showing >70% bootstrap value after 1000 replicates (Tamura et al., 2011) using 215 mt genome coding region sequences from Africa, Australia, Papua New Guinea/Melanesia, north and south Asia and America as discussed and referenced in Supplementary material van Holst Pellekaan (2011). Taxon labels are omitted for clarity. Nonsupported clusters are collapsed, only connecting to the main non-African cluster. For explanation of supported clusters on left and right sides of the figure that remain after a 70% bootstrap value is imposed, read (a) % bootstrap value for the cluster followed by (b) haplogroup designation and (c) regional source of sequence. From top left anticlockwise: 99 RSRS, L0, L1 Africa; 91 L2 Africa; 98 A, Native American, Siberia; 78 O, Australia; 90 X, Native American; 81 S1a, Australia; 99 W, Asia; 99 S1b, Australia; 85 S2, Australia; 99 R12, Asia; 97 N, India; 99 P4b, Australia; 99 P4a, New Guinea; 78 B, Native American/Asia; 99 S3, Australia; 99 Andaman Is.; 89 D Native American/Asia; 72 M, India and 95 M, India. From top right clockwise: 99 P2, New Guinea, Melanesia; 91 P3, Australia & New Guinea; 76 M42a, Australia; 88 B, North Asia & New Guinea coastal; 99 Japan/East Asia; 95 C, Native American/Asia; 91 M, India; 99 M, India; 89 Q, New Guinea & Australia (1) and 99 M14, Australia.
Figure 3. Macrohaplogroup ‘M’ subtree. Labels indicate a regional prefix followed by GenBank ID and name of haplogroup subdivisions.
Figure 4. Macrohaplogroup ‘N’ subtrees of the NJ phylogeny in Figure 1. Major divisions of N are haplogroups ‘O’ (a) and ‘S’ (b). Labels indicate a regional prefix followed by GenBank ID, and name of haplogroup subdivisions where known.
Figure 5. ‘R’ subgroup of N and ‘P’ subgroup of R. Labels indicate a regional prefix followed by GenBank ID and name of haplogroup subdivisions.
close
 References
    Abu-Amero KK, Gonzalez AM, Larruga JM, Bosley TM and Cabrera VM (2007) Eurasian and African influences on the mitochondrial gene pool of the Arabian Peninsula. BMC Evolutionary Biology 7: 32. doi:10.1186/1471-2148-7-32.
    Adcock GJ, Dennis ES, Easteal S et al. (2001) Mitochondrial DNA sequences in ancient Australians: implications for modern human origins. Proceedings of the National Academy of Sciences of the USA 98(2): 537–542.
    Balme J, Davidson I, McDonald J, Stern N and Veth P (2009) Symbolic behaviour and the peopling of the southern arc route to Australia. Quaternary International 202: 59–68.
    Bandelt H-J, Forster P and Röhl A (1999) Median-joining networks for inferring intraspecific phylogenies. Molecular Biology and Evolution 16: 37–48.
    Behar DM, van Oven M, Rosset S et al. (2012) A ‘Copernican’ reassessment of the human mitochondrial DNA tree from its root. The American Journal of Human Genetics 90: 675–684. doi 10.1016/j.ajhg.2012.03.002.
    Curnoe D (2011) A 150-year conundrum: cranial robusticity and its bearing on the origin of aboriginal Australians. International Journal of Evolutionary Biology 2011: Article ID 632484, 18 pages. doi:10.4061/2011/632484.
    Curnoe D, Xueping J, Herries AIR et al. (2012) Human remains from the Pleistocene-Holocene transition of southwest China suggest a complex evolutionary history for East Asians. PLoS ONE 7: e31918.
    Davidson I (2012) Peopling the last new worlds: the first colonisation of Sahul and the Americas. Quaternary International 285: doi: 10.1016/j.quaint.2012.09.023.
    Evans N (2005) Australian languages reconsidered: a review of Dixon (2002). Oceanic Linguistics 44(1): 243–286.
    Friedlaender J, Schurr T, Gentz F et al. (2005) Expanding southwest Pacific mitochondrial haplogroups P and Q. Molecular Biology and Evolution 22(6): 1506–1517.
    Friedlaender JS, Friedlaender FR, Hodgson JA et al. (2007) Melanesian mtDNA complexity. PloS One 2(2): e248. doi:10.1371/journal.pone.0000248.
    Green RE, Krause J, Briggs AW et al. (2010) A draft sequence of Neanderthal genome. Science 328: 710–722.
    van Holst Pellekaan S (2004) Human genome diversity: ethics and practice in Australia. Human Evolution 19(2): 131–144.
    van Holst Pellekaan S (2011) Genetic evidence for the colonization of Australia. Quaternary International 285: doi:10.1016/j.quaint.2011.04.014.
    van Holst Pellekaan S (2012) Socially responsible genetic research with descendants of the first Australians. Investigative Genetics 3: 22. doi: 10.1186/2041-2223-3-22.
    van Holst Pellekaan SM, Ingman M, Roberts-Thomson J and Harding RM (2006) Mitochondrial genomics identifies major haplogroups in Aboriginal Australians. American Journal of Physical Anthropology 131: 282–294.
    Hudjashov G, Kivisild T, Underhill PA et al. (2007) Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis. Proceedings of the National Academy of Sciences of the USA 104: 8726–8730.
    Ingman M and Gyllensten U (2003) Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Research 13: 1600–1606.
    Ingman M, Kaessman H, Pääbo S and Gyllensten U (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408: 708–713.
    ePath International Society of Genetic Genealogy (2012). Y-DNA Haplogroup Tree 2012, Version: 7.62, Date: 8 October 2012. http://www.isogg.org/tree/ [Date of access: 20 January 2013].
    Kayser M (2010) The human genetic history of Oceania: near and remote views of dispersal. Current Biology 20: R195–R201.
    Kayser M, Brauer S, Weiss G et al. (2001) Independent histories of human Y chromosomes from Melanesia and Australia. American Journal of Human Genetics 68: 183–190.
    Kivisild T, Shen P, Wall DP et al. (2006) The role of selection in the evolution of human mitochondrial genomes. Genetics 172: 373–387.
    Kumar S, Reddy BM, Ravuri R et al. (2009) Reconstructing Indian–Australian phylogenetic link. BMC Evolutionary Biology 9: 173. doi:10.1186/1471-2148-9-173.
    Macaulay V, Hill C, Achilli A et al. (2005) Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes. Science 308: 1034–1036.
    McEvoy BM, Lind JM, Wang ET et al. (2010) Whole-genome genetic diversity in a sample of Australians with deep aboriginal ancestry. American Journal of Human Genetics 87: 297–305.
    Mishmar D, Ruiz-Pesini E, Golik P et al. (2003) Natural selection shaped regional mtDNA variation in humans. Proceedings of the National Academy of Sciences of the USA 100(1): 171–176.
    O'Connell JF and Allen J (2012) The restaurant at the end of the universe: modelling the colonisation of Sahul. Australian Archaeology 74: 5–31.
    book O'Connell JF and Allen J (2007) "Pre-LGM Sahul (Pleistocene Australia-New Guinea) and the archaeology of modern humans". In: Mellars P, Boyle K, Bar-Yosef O and Stringer C (eds) Rethinking the Human Revolution, pp. 395–410. Downing Street, CA: McDonald Institute for Archaeological Research.
    van Oven M and Kayser M (2009) Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Human Mutations 30(2): E386–E394. doi:10.1002/humu.20921. http://www.phylotree.org
    Rassmussen M, Guo X, Wang Y et al. (2011) An aboriginal Australian genome reveals separate human dispersals into Asia. Science 334: 94–98.
    Reich D, Green RE, Kircher M et al. (2010) Genetic history of an archaic hominin group from Denisova cave in Siberia. Nature 468: 1053–1060.
    Soares P, Ermina L, Thomson N et al. (2009) Correcting for purifying selection: an improved molecular clock. The American Journal of Human Genetics 84: 740–759.
    Tamura K, Peterson D, Peterson N et al. (2011) MEGA5: molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods. Molecular Biology and Evolution 28: 2731–2739.
    Taylor D, Nagle N, Ballantyne KN et al. (2012) An investigation of admixture in an Australian Aboriginal Y-chromosome STR database. Forensic Science International: Genetics 6: 532–538.
    Underhill PA, Passarino G, Lin AA et al. (2001) The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Annals of Human Genetics 65: 43–62.
    Vandenberg N, van Oorschot RAH, Tyler-Smith C and Mitchell RJ (1999) Y-chromosome-specific microsatellite variation in Australian Aboriginals. Human Biology 71: 915–931.
 Further Reading
    Delfin F, Salvador JM, Calacal GC et al. (2011) The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups. European Journal of Human Genetics 19: 224–230.
    Forster P and Matsomara S (2005) Did early humans go north or south? Science 308: 965–966.
    Gunnarsdóttir ED, Li M, Bauchet M et al. (2011) High throughput sequencing of complete human mtDNA genomes from the Philippines. Genome Research 21: 1–11.
    HUGO Pan-Asian Consortium (2009) Mapping human genetic diversity in Asia. Science 328: 1541–1545.
    Hunley K, Dunn M, Lindström E et al. (2008) Genetic and linguistic coevolution in Northern Island Melanesia. PLos Genetics 4(10): e1000239.
    book Kirk RL (1989) "Population genetic studies in the Pacific: red cell antigen, serum protein, and enzyme studies". In: Hill AVS and Serjeantson SW (eds) The Colonization of the Pacific: A Genetic Trail, pp. 61–119. Oxford: Clarendon Press.
    Merriwether DA, Hodgson JA, Friedlaender FR et al. (2005) Ancient mitochondrial M haplogroups identified in the Southwest Pacific. Proceedings of the National Academy of Sciences of the USA 102(37): 13034–13039.

Related Sub-Topics:

Human Evolution | Population Structure and Genetics
Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

Article Title: Origins of the Australian and New Guinean Aborigines
 
How to Cite close
van Holst Pellekaan, Sheila M(Mar 2013) Origins of the Australian and New Guinean Aborigines. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020815.pub2]