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] |
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 |