Before Farming

Excavating the mitochondrial genome identifies major haplogroups in Aboriginal Australians

Before Farming (2006), 2006, (1), 1–26.

Abstract

Mitochondrial genome sequence analysis of living Aboriginal Australians from the Darling River region of New South Wales and Yuendumu reveals five major maternal haplogroups reflecting deeper ancestral connections than identity with known language or culturally derived borders. Eight complete mitochondrial genome sequences and 41 that include hypervariable segments 1 & 2 and two coding regions, reveal several distinguishing variants which suggest common ancestry with global macrohaplogroups, all falling into a non-African clade in sequence trees. Haplogroup AuB belongs to global lineage ‘M’, and the others to ‘N’. Within N, AuA can be allocated to sub-division NS, AuD to NO, while AuC and AuE fall into haplogroup N(R)P. Wide geographical distribution of distinctive HVS1 types suggests a long presence in Australia, in agreement with archaeological evidence.

Characteristics of haplogroup MAuB support a proposed migration route into Australia through southern India and southeast Asia. However, Australian MAuB is distinguished from other ‘M’ lineages in neighbours to the near north and does not include any of the M sub-group ‘Q’ that is suggested to have expanded in Papua New Guinea (Friedlaender et al 2005). Within the large class of N, N(S)AuA is deep and widespread, and is likely to represent a founding lineage. N(R)P sequences group closely to some coastal and highland Papua New Guinea (PNG) sequences indicating ancient connections. PAuC includes several haplotypes likely to have expanded in the Darling River region since arrival and apparently separately from PAuE, which with N(O)AuD, is currently identified only in the north of the continent. Using coalescence analysis for the coding regions of the eight genomic sequences, we make estimates of time depth that support a continuity of presence for the descendants of a founding population already established by 40,000 years ago. Questions of migratory history and timing of possible founding events are raised although the possibility of founding groups that included diverse lineages cannot be ruled out.

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van Holst Pellekaan, Sheila

Harding, Rosalind