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Mitochondrial genomics identifies major haplogroups in Aboriginal Australians
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology, Medical Genetics.
2006 (English)In: American Journal of Physical Anthropology, ISSN 0002-9483, E-ISSN 1096-8644, Vol. 131, no 2, 282-294 p.Article in journal (Refereed) Published
Abstract [en]

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 0, AuC to P4, and AuE to P8. On available evidence, (S)AuA and (AuB)-Au-M are widespread in Australia. (AuC)-Au-P4 is found in the Riverine region of western New South Wales, and was identified by others in northern Australia. (AuD)-Au-O and (AuE)-Au-P8 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 macro-haplogroups. 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.

Place, publisher, year, edition, pages
2006. Vol. 131, no 2, 282-294 p.
Keyword [en]
mtDNA, phylogeography, coalescence model, population history
National Category
Biological Sciences
URN: urn:nbn:se:uu:diva-155117DOI: 10.1002/ajpa.20426ISI: 000240565300013PubMedID: 16596590OAI: oai:DiVA.org:uu-155117DiVA: diva2:423939
Available from: 2011-06-16 Created: 2011-06-16 Last updated: 2011-06-16Bibliographically approved

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