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]

Subclades

Tree

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

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. 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

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

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