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 8 known members, all of whom are from Australia, and that the haplogroup is at least 20,000 years old.[6]

The following table lists relevant GenBank samples:

Phylotree HaplogroupYFull HaplogroupGenBank IDAlternate IDState/Region
OO-a1KY595606AUS41Queensland[7]
OO-a1aAY289059Aus23Northern Territory[7]
OO-a1aKY595554AUS39Queensland[7]
OO-a1aKY595619AUS40Queensland[7]
O1O-a2KY595668AUS38Queensland[7]
O1O1DQ404447AUD38Northern Territory desert[7]
O1aO1aAY289056Aus20Northern Territory[7]
O1aO1aAY289058Aus22Northern Territory[7]

Notes

  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 12 September 2023.
  7. 1 2 3 4 5 6 7 8 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.

See also

Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1–6  
L1 L2   L3     L4 L5 L6
M N  
CZ D E G Q   O A S R   I W X Y
C Z B F R0   pre-JT   P   U
HV JT K
H V J T
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