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 | ||||||||||||||||||||||||||||||||||||
A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup is a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation. More specifically, a haplotype is a combination of alleles at different chromosomal regions that are closely linked and that tend to be inherited together. As a haplogroup consists of similar haplotypes, it is usually possible to predict a haplogroup from haplotypes. Haplogroups pertain to a single line of descent. As such, membership of a haplogroup, by any individual, relies on a relatively small proportion of the genetic material possessed by that individual.
Haplogroup T is a human mitochondrial DNA (mtDNA) haplogroup. It is believed to have originated around 25,100 years ago in the Near East.
Haplogroup V is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated over 14,000 years ago in Southern Europe.
Haplogroup HV is a human mitochondrial DNA (mtDNA) haplogroup.
Haplogroup F is a human mitochondrial DNA (mtDNA) haplogroup. The clade is most common in East Asia and Southeast Asia. It has not been found among Native Americans.
Haplogroup N is a human mitochondrial DNA (mtDNA) clade. A macrohaplogroup, its descendant lineages are distributed across many continents. Like its sibling macrohaplogroup M, macrohaplogroup N is a descendant of the haplogroup L3.
Haplogroup I is a human mitochondrial DNA (mtDNA) haplogroup. It is believed to have originated about 21,000 years ago, during the Last Glacial Maximum (LGM) period in West Asia. The haplogroup is unusual in that it is now widely distributed geographically, but is common in only a few small areas of East Africa, West Asia and Europe. It is especially common among the El Molo and Rendille peoples of Kenya, various regions of Iran, the Lemko people of Slovakia, Poland and Ukraine, the island of Krk in Croatia, the department of Finistère in France and some parts of Scotland and Ireland.
Haplogroup K or K-M9 is a genetic lineage within human Y-chromosome DNA haplogroup. A sublineage of haplogroup IJK, K-M9, and its descendant clades represent a geographically widespread and diverse haplogroup. The lineages have long been found among males on every continent except Antarctica.
In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolutionary path of the female lineage has helped population geneticists trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread around the globe.
In human mitochondrial genetics, haplogroup E is a human mitochondrial DNA (mtDNA) haplogroup typical for the Malay Archipelago. It is a subgroup of haplogroup M9.
Haplogroup L0 is a human mitochondrial DNA (mtDNA) haplogroup.
In human mitochondrial genetics, haplogroup Q is a human mitochondrial DNA (mtDNA) haplogroup typical for Oceania. It is a subgroup of haplogroup M29'Q.
In human mitochondrial genetics, Haplogroup G is a human mitochondrial DNA (mtDNA) haplogroup.
In human mitochondrial genetics, Haplogroup P is a human mitochondrial DNA (mtDNA) haplogroup.
In human genetics, Haplogroup S is a human mitochondrial DNA (mtDNA) haplogroup found only among Indigenous Australians. It is a descendant of macrohaplogroup N.
In human mitochondrial genetics, Haplogroup L6 is a human mitochondrial DNA (mtDNA) haplogroup. It is a small African haplogroup.
Cytochrome b is a protein that in humans is encoded by the MT-CYB gene. Its gene product is a subunit of the respiratory chain protein ubiquinol–cytochrome c reductase, which consists of the products of one mitochondrially encoded gene, MT-CYB, and ten nuclear genes—UQCRC1, UQCRC2, CYC1, UQCRFS1, UQCRB, "11kDa protein", UQCRH, Rieske protein presequence, "cyt c1 associated protein", and Rieske-associated protein.
In human mitochondrial genetics, Haplogroup H5 is a human mitochondrial DNA (mtDNA) haplogroup descended from Haplogroup H (mtDNA). H5 is defined by T16304C in the HVR1 region and 456 in the HVR2 region.
In human mitochondrial genetics, Haplogroup K1a1b1a is a human mitochondrial DNA (mtDNA) haplogroup.
The International Society of Genetic Genealogy (ISOGG) is an independent non-commercial nonprofit organization of genetic genealogists run by volunteers. It was founded by a group of surname DNA project administrators in 2005 to promote DNA testing for genealogy. It advocates the use of genetics in genealogical research, provides educational resources for genealogists interested in DNA testing, and facilitates networking among genetic genealogists. As of June 2013, it comprises over 8,000 members in 70 countries. As of July 2013, regional meetings are coordinated by 20 volunteer regional coordinators located in the United States, Australia, Brazil, Canada, England, Egypt, Ireland and Russia.