Haplogroup O (mtDNA)

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.[6] The haplogroup is 28 to 39 kilo years old.[7]

The following table lists relevant GenBank samples:

Phylotree HaplogroupYFull HaplogroupGenBank IDAlternate IDState/Region
OO-a1KY595606AUS41Queensland[8]
OO-a1aAY289059Aus23Northern Territory[8]
OO-a1aKY595554AUS39Queensland[8]
OO-a1aKY595619AUS40Queensland[8]
O1O-a2KY595668AUS38Queensland[8]
O1O1DQ404447AUD38Northern Territory desert[8]
O1aO1aAY289056Aus20Northern Territory[8]
O1aO1aAY289058Aus22Northern Territory[8]

Subclades

Tree

  • O
    • O-a1
      • O-a1a
    • O1
      • O-a2
    • O1
      • O1a

See also

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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. PMC 3991479. 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. ↑ Gandini, Francesca; Almeida, Mafalda; Foody, M. George B.; Nagle, Nano; Bergström, Anders; Olivieri, Anna; Rodrigues, Simão; Fichera, Alessandro; Oteo-Garcia, Gonzalo; Torroni, Antonio; Achilli, Alessandro; Pomat, William; Zainuddin, Zafarina; Eng, Ken Khong; Shoeib, Tarek (2025-11-28). "Genomic evidence supports the "long chronology" for the peopling of Sahul". Science Advances. 11 (48). doi:10.1126/sciadv.ady9493. ISSN 2375-2548. PMC 12662211.
  8. 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.

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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