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.
The letter names of the haplogroups (not just mitochondrial DNA haplogroups) run from A to Z. As haplogroups were named in the order of their discovery, the alphabetical ordering does not have any meaning in terms of actual genetic relationships.
The hypothetical woman at the root of all these groups (meaning just the mitochondrial DNA haplogroups) is the matrilineal most recent common ancestor (MRCA) for all currently living humans. She is commonly called Mitochondrial Eve.
The rate at which mitochondrial DNA mutates is known as the mitochondrial molecular clock. It is an area of ongoing research with one study reporting one mutation per 8000 years.
This phylogenetic tree is based Van Oven (2009). In June 2022, an alternative phylogeny for haplogroup L was suggested
L (Mitochondrial Eve)
L0
L1-6
L1
L2-6
L5
L2'3'4'6
L2
L3'4'6
L6
L3'4
L4
L3
N
N1: I
N2: W
N9: Y
A
S
X
R
R0 (FMKA pre-HV)
HV: (H, V)
pre-JT or R2'JT
JT: (J, T)
R9: F
R11'B: B
P
U (formerly UK)
U8: K
O
M
M9: E
M12'G: G
M29'Q: Q
D
M8: CZ (C, Z)
Macro-haplogroup L is the most basal of human mtDNA haplogroups, from which all other haplogroups descend (specifically, from haplogroup L3). It is found mostly in Africa.
Haplogroup L0
L1-7
Haplogroup L1
L2-7
L3'4'6
Haplogroup L2
L346
L34
Haplogroup L3
Haplogroup L4
Haplogroup L6
L5'7
Haplogroup L5
Haplogroup L7
Macro-haplogroup M is found mostly in Asia and the Americas. Its descendants are haplogroup M, haplogroup C, haplogroup Z, haplogroup D, haplogroup E, haplogroup G and haplogroup Q.
Macro-haplogroup N is found mostly in Australia, the Americas and parts of Asia.
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A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup (haploid from the ἁπλοῦς, haploûs, "onefold, simple" and group) 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.
The Austronesian peoples, sometimes referred to as Austronesian-speaking peoples, are a large group of peoples in Taiwan, Malay Peninsula, parts of Mainland Southeast Asia, Maritime Southeast Asia, Micronesia, coastal New Guinea, Island Melanesia, Polynesia, and Madagascar that speak Austronesian languages. They also include indigenous ethnic minorities in Vietnam, Cambodia, Myanmar, Thailand, Hainan, the Comoros, and the Torres Strait Islands.
In human genetics, the Mitochondrial Eve (also mt-Eve, mt-MRCA) is the matrilineal most recent common ancestor (MRCA) of all living humans. In other words, she is defined as the most recent woman from whom all living humans descend in an unbroken line purely through their mothers and through the mothers of those mothers, back until all lines converge on one woman. In terms of mitochondrial haplogroups, the mt-MRCA is situated at the divergence of macro-haplogroup L into L0 and L1–6.
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