Mitochondrial genomics identifies major haplogroups in Aboriginal Australians

Bibliographic Data

ID8318554
AuthorsSheila M van Holst Pellekaan (UNSW Sydney, corresponding author), Max Ingman (University of Lausanne), June Roberts-Thomson (University of Newcastle Australia), Rosalind M Harding (University of Oxford)
Year2006
Volume131
Issue2
Pages282-294
Publication date2006-10-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueAmerican Journal of Physical Anthropology (JOURNAL)
Journal identifiersISSN: 0002-9483 • E-ISSN: 1096-8644
PublisherWiley (PUBLISHER • GB)
DOI10.1002/ajpa.20426
PMID16596590
OpenAlexW2095577721
LanguageEN
Citations received20
References cited50

We classified diversity in eight new complete mitochondrial genome sequences and 41 partial sequences from living Aboriginal Australians into five haplogroups. Haplogroup AuB belongs to global lineage M, and AuA, AuC, AuD, and AuE to N. Within N, we recognize subdivisions, assigning AuA to haplogroup S, AuD to haplogroup O, AuC to P4, and AuE to P8. On available evidence, (S)AuA and (M)AuB are widespread in Australia. (P4)AuC is found in the Riverine region of western New South Wales, and was identified by others in northern Australia. (O)AuD and (P8)AuE were clearly identified only from central Australia. Our eight Australian full mt genome sequences, combined with 20 others (Ingman and Gyllensten 2003 Genome Res. 13:1600-1606) and compared with full mt genome sequences from regions to the north that include Papua New Guinea, Malaya, and Andaman and Nicobar Islands, show that ancestral connections between regions are deep and limited to clustering at the level of the N and M macrohaplogroups. The Australian-specific distribution of the five haplogroups identified indicates genetic isolation over a long period. Ancestral connections within Australia are deeper than those reflected by known linguistic or culturally based affinities. Applying a coalescence analysis to a gene tree for the coding regions of the eight genomic sequences, we made estimates of time depth that support a continuity of presence for the descendants of a founding population already established by 40,000 years ago

Biology · Ethnology · Evolutionary biology · Gene · Genealogy · Genome · Genotype · Geography · Haplogroup · Haplotype · Lineage (genetic) · Mitochondrial DNA · Population · Sociology · Demography · Forensic and Genetic Research · Genetics · Genomics and Phylogenetic Studies · History · Identification and Quantification in Food

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