Haplogroup O (mtDNA) explained

Haplogroup O mtDNA is a haplogroup derived from haplogroup N and found in Oceania.^[1] Specifically, it is found among Aboriginal Australians.^{[2] [3]} Its defining mutations are G6755A, C9140T, and G16213A.^[4]

It is one of the rarest haplogroups. As of 2022, FamilyTreeDNA reports that only 4 people in their customer base who have tested their complete mitochondrial sequences are members of the haplogroup.^[5] YFull reports 9 known members, 8 of whom are stated to be from Australia, and that the haplogroup is at least 20,000 years old.^[6]

The following table lists relevant GenBank samples:

Phylotree Haplogroup	YFull Haplogroup	GenBank ID	Alternate ID	State/Region
O	O-a1	KY595606	AUS41	Queensland^[7]
O	O-a1a	AY289059	Aus23	Northern Territory
O	O-a1a	KY595554	AUS39	Queensland
O	O-a1a	KY595619	AUS40	Queensland
O1	O-a2	KY595668	AUS38	Queensland
O1	O1	DQ404447	AUD38	Northern Territory desert
O1a	O1a	AY289056	Aus20	Northern Territory
O1a	O1a	AY289058	Aus22	Northern Territory

See also

• Genealogical DNA test
• Genetic genealogy
• Human mitochondrial genetics
• Population genetics
• Human mitochondrial DNA haplogroups

Notes and References

1. 10.1086/425871 . 75 . Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia . 2004 . The American Journal of Human Genetics . 966–978 . Malliya . 6 . 1182158 . 15467980.
2. van Holst Pellekaan . Sheila M. . Ingman . Max . Roberts-Thomson . June . Harding . Rosalind M. . Mitochondrial genomics identifies major haplogroups in Aboriginal Australians . American Journal of Biological Anthropology . 131 . 2 . October 2006 . 282–294 . 10.1002/ajpa.20426 . 16596590 .
3. Rasmussen . Morten . Guo . Xiaosen . Wang . Yong . Lohmueller . Kirk E. . Rasmussen . Simon . Albrechtsen . Anders . Skotte . Line . Lindgreen . Stinus . Metspalu . Mait . 8 . An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia . Science . 334 . 6052 . 2011-10-07 . 94–98 . 10.1126/science.1211177 . 21940856 . 10072/43493 . free .
4. Web site: PhyloTree.org - mtDNA tree Build 17 (18 Feb 2016): subtree N .
5. Web site: Haplotree . 30 August 2022.
6. Web site: O MTree . 30 March 2024.
7. Nagle . Nano . van Oven . Mannis . Wilcox . Stephen . van Holst Pellekaan . Sheila . Tyler-Smith . Chris . Xue . Yali . Ballantyne . Kaye N. . Wilcox . Leah . Papac . Luka . Cooke . Karen . van Oorschot . Roland A. H. . McAllister . Peter . Williams . Lesley . Kayser . Manfred . Mitchell . R. John . Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity . Scientific Reports . 2017-03-13 . 7 . 10.1038/srep43041 . 28287095 . 5347126 . Supplementary Figure 2 .