Excavating the mitochondrial genome identifies major haplogroups in Aboriginal Australians
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...
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