Human mitochondrial DNA haplogroup
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:
Subclades
Tree
Notes
^ 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 .
^ 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 .
^ 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 .
^ "PhyloTree.org - mtDNA tree Build 17 (18 Feb 2016): subtree N" .
^ "Haplotree" . Retrieved 30 August 2022 .
^ "O MTree" . Retrieved 30 March 2024 .
^ 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 .
See also