Human mitochondrial DNA haplogroup
![](http://upload.wikimedia.org/wikipedia/commons/thumb/5/5e/MtDNA_haplogroup_distribution_among_2%2C054_individuals_across_26_populations_from_the_1000_Genomes_Project.png/350px-MtDNA_haplogroup_distribution_among_2%2C054_individuals_across_26_populations_from_the_1000_Genomes_Project.png)
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
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.[2]
Phylogeny
![](http://upload.wikimedia.org/wikipedia/commons/thumb/8/80/MtDNA_haplogroup_tree_and_distribution_map.gif/350px-MtDNA_haplogroup_tree_and_distribution_map.gif)
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This phylogenetic tree is based Van Oven (2009).[4] In June 2022, an alternative phylogeny for haplogroup L was suggested[5]
Major mtDNA Haplogroups
Macro-haplogroup L
- Haplogroup L0
- L1-7
- Haplogroup L1
- L2-7
- L3'4'6
- Haplogroup L2
- L346
- L34
- Haplogroup L3
- Haplogroup L4
- Haplogroup L6
- L34
- L5'7
- Haplogroup L5
- Haplogroup L7
- L3'4'6
Macro-haplogroup M
Macro-haplogroup M is found mostly in Asia and the Americas. Its descendants are
.Macro-haplogroup N
Macro-haplogroup N is found mostly in Australia, the Americas and parts of Asia. Its descendants are
Macro-haplogroup R
Macro-haplogroup R is found mostly in Europe, Northern Africa, the Pacific and parts of Asia and the Americas. Its descendants are
Chronology
Haplogroup | Est. time of origin (kya)[6] | Possible place of origin | Highest frequencies |
---|---|---|---|
L | 200 | Africa | |
L1-6 | 170 | East Africa | |
L2-6 | 150 | East Africa | |
L0 | 150 | East Africa | |
L1 | 140 | Central Africa | |
L3-6 | 130 | ||
L5 | 120 | ||
L2 | 90 | ||
L3 | 70 | East Africa | |
N | 70 | East Africa or West Asia |
|
M | 60 | East Africa, West Asia or South Asia |
|
R | 60 | South Asia or Southeast Asia | |
U | 55 | North-East Africa or India (South Asia) | |
RT'JT | 55 | Middle East | |
JT | 50 | Middle East | |
U8 | 50 | Western Asia | |
R9 | 47 | ||
B4 | 44 | ||
F | 43 | ||
U4'9 | 42 | Central Asia | |
U5 | 35 | Western Asia | |
U6 | 35 | North Africa | |
J | 35 | ||
X | 30 | ||
K | 30 | ||
U5a | 27 | ||
HV | 27 | Near East | |
J1a | 27 | Near East | |
T | 27 | Mesopotamia | |
K1 | 27 | ||
I | 26 | ||
J1 | 24 | Near East | |
W | 20 | ||
U4 | 20 | Central Asia | |
X2 | 20 | ||
H | 20 | Western Asia | |
U5a1 | 18 | Europe | |
J1b | 11 | ||
V | 14 | ||
X2a | 13 | North America | |
H1 | 12 | ||
H3 | 12 | ||
X1 | 10 |
Geographical distribution
A 2004 paper suggested that the haplogroups most common in modern West Asian, North African and European populations were: H, J, K, N1, T, U4, U5, V, X and W.[7]
African haplogroups: L0, L1, L2, L3, L4, L5, L6, T, U5a
Australian haplogroups: M42a, M42c, M14, M15, Q, S, O, N, P. (Refs 1, 2, 3, 4, 5, 6)
Asian haplogroups: F, C, W, M, D, N, K, U, T, A, B, C, Z, U many number variants to each section
Research software
Assignment
- mtHap: James Lick's tool (multiple input formats).
- YSEQ mt Clade Finder: FASTA based haplogroup tool. Replaced HAPLOFIND.[8]
- HaploGrep: VCF based tool.[9][10]
- Haplocheck: Mitoverse's tool for both WGS and WES.[11]
- Haplotracker: A short fragment tool.[12]
- Haplogroup Finder: Ian Logan's SNP to haplogroup tool.
Dating
- mtDNA Mutation Computer Model: Ian Logan's mutation calculator.
Phylogeny
- FTDNA's mtDNA Haplotree: The largest mtDNA tree.
- YFull's MTree: An mtDNA tree. Faster loading (simpler).
- PhyloTreemt: A traditional mtDNA tree (last updated 2016-02-18).[13]
- HIP: Haplogroup trees.
Maps
Ancient
- HIP Haplomap: Ancient uniparental map.
- AH DNA: Nicky Rosenblatt's ancient uniparental map.[14]
- Ancient DNA: An aDNA map made with Map Maker.
Modern
- HRAS mtDNA: A heatmap generator.
Databases
Ancient
- AmtDB: An database of ancient mtDNA samples.[15]
- All Ancient DNA Dataset: Carlos Quiles' uniparental database (with BAM).
Modern
- GenBank mtDNA Sequence Checker: Ian Logan's GenBank based accession matching tool.
- mitoYDNA: A uniparental database.
- MITOMAP: An mtDNA genome database.[16]
See also
- Human mitochondrial genetics
- Genetic genealogy
- Matrilineality
- Human Y-chromosome DNA haplogroups
- Population genetics
References
- PMID 28178941.
- PMID 20041137
- PMID 25798216.
- ^ S2CID 27566749.
- S2CID 250021505.
- ^ "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock Supplementary" (PDF). Cell: 82–83 [89]. 2009. Archived from the original (PDF) on 2009-12-29.
- PMID 15254257– via academic.oup.com.
- eISSN 1098-1004.
- eISSN 1098-1004.
- eISSN 1362-4962.
- eISSN 2045-2322.
- bioRxiv 10.1101/2020.04.23.057646v1.
- eISSN 1098-1004.
- ^ Various (2017-05-30). "Rosenblatt's ancient DNA map". Anthrogenica.
- eISSN 1362-4962.
- eISSN 1362-4962.
External links
- List of mtDNA haplogroup projects at ISOGG.
![](http://upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/30px-Commons-logo.svg.png)
Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups | |||||||||||||||||||||||||||||||||||||||
L )
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L0 | L1–6 | ||||||||||||||||||||||||||||||||||||||
L1
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L2
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L3
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L4
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L5
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L6
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M | N | ||||||||||||||||||||||||||||||||||||||
CZ
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D | E | G | Q | O | A | S | R | I | W
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X | Y
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C | Z | B | F | R0
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pre-JT | P | U
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HV
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JT
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K | |||||||||||||||||||||||||||||||||||||
H | V | J | T |