Haplogroup O (mtDNA)

This article is about the human mtDNA haplogroup. For the human Y-DNA haplogroup, see Haplogroup O-M175.

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[7]
O O-a1a KY595554 AUS39 Queensland[7]
O O-a1a KY595619 AUS40 Queensland[7]
O1 O-a2 KY595668 AUS38 Queensland[7]
O1 O1 DQ404447 AUD38 Northern Territory desert[7]
O1a O1a AY289056 Aus20 Northern Territory[7]
O1a O1a AY289058 Aus22 Northern Territory[7]
  1. ^ Malliya (2004). "Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia". The American Journal of Human Genetics. 75 (6): 966–978. doi:10.1086/425871. PMC 1182158. PMID 15467980.
  2. ^ van Holst Pellekaan, Sheila M.; Ingman, Max; Roberts-Thomson, June; Harding, Rosalind M. (October 2006). "Mitochondrial genomics identifies major haplogroups in Aboriginal Australians". American Journal of Biological Anthropology. 131 (2): 282–294. doi:10.1002/ajpa.20426. PMID 16596590.
  3. ^ Rasmussen, Morten; Guo, Xiaosen; Wang, Yong; Lohmueller, Kirk E.; Rasmussen, Simon; Albrechtsen, Anders; Skotte, Line; Lindgreen, Stinus; et al. (2011-10-07). "An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia". Science. 334 (6052): 94–98. doi:10.1126/science.1211177. hdl:10072/43493. PMID 21940856.
  4. ^ "PhyloTree.org - mtDNA tree Build 17 (18 Feb 2016): subtree N".
  5. ^ "Haplotree". Retrieved 30 August 2022.
  6. ^ "O MTree". Retrieved 30 March 2024.
  7. ^ a b c d e f g h 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 (2017-03-13). "Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity". Scientific Reports. 7: Supplementary Figure 2. doi:10.1038/srep43041. PMC 5347126. PMID 28287095.