Human Mitochondrial DNA Haplogroups
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In human genetics, a human mitochondrial DNA haplogroup is a
haplogroup A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup (haploid from the , ''haploûs'', "onefold, simple" and ) is a group of similar haplotypes that share a common ancestor with a sing ...
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 Matrilineality, at times called matriliny, is the tracing of kinship through the female line. It may also correlate with a social system in which people identify with their matriline, their mother's lineage, and which can involve the inheritan ...
inheritance of modern humans back to human origins in
Africa Africa is the world's second-largest and second-most populous continent after Asia. At about 30.3 million km2 (11.7 million square miles) including adjacent islands, it covers 20% of Earth's land area and 6% of its total surfac ...
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 Matrilineality, at times called matriliny, is the tracing of kinship through the female line. It may also correlate with a social system in which people identify with their matriline, their mother's lineage, and which can involve the inheritan ...
most recent common ancestor (MRCA) for all currently living
humans Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing ...
. 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.


Phylogeny

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)


Major mtDNA Haplogroups


Macro-haplogroup L

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

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

Macro-haplogroup N is found mostly in Australia, the Americas and parts of Asia. Its descendants are haplogroup N, haplogroup O, haplogroup A, haplogroup S, haplogroup I, haplogroup W, haplogroup X and haplogroup Y, as well as macro-haplogroup R.


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 haplogroup R, haplogroup B, haplogroup F, haplogroup H, haplogroup V, haplogroup J, haplogroup T, haplogroup U and haplogroup K


Chronology


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. African haplogroups: L0, L1, L2, L3, L4, L5, L6, T, U5a Australian and Oceanian haplogroups: M42a, M42c, M14, M15, Q, S, O, N, P. (Refs 1, 2, 3, 4, 5, 6) Asian and native American 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.
HaploGrep
VCF based tool.
Haplocheck
Mitoverse's tool for both WGS and WES.
Haplotracker
A short fragment tool.

Ian Logan's SNP to haplogroup tool.


Dating


mtDNA Mutation Computer Model
Ian Logan's mutation calculator.


Phylogeny


FTDNA's discover tool
for browsing their new mtDNA Haplotree. (Released 2025-02-25)
FTDNA's mtDNA Haplotree
Mostly based on PhyloTree Build 17 but with the addition of haplogroup L7.
FTDNA's Mitotree
"Classic" view of FTDNA's mtDNA tree.
YFull's MTree
An mtDNA tree. Faster loading (simpler).
PhyloTreemt
A traditional mtDNA tree (last updated 2016-02-18).
HIP
Haplogroup trees.


Maps


Ancient


HIP Haplomap
Ancient uniparental map.
AH DNA
Nicky Rosenblatt's ancient uniparental map.
Ancient DNA
An aDNA map made with Map Maker.


Modern


HRAS mtDNA
A heatmap generator.


Databases


Ancient


AmtDB
An database of ancient mtDNA samples.
All Ancient DNA Dataset
Carlos Quiles' uniparental database (with BAM).


Modern



Ian Logan's GenBank based accession matching tool.
mitoYDNA
A uniparental database.
MITOMAP
An mtDNA genome database.


See also

* Human mitochondrial genetics * Genetic genealogy * Matrilineality * Human Y-chromosome DNA haplogroups *
Population genetics Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as Adaptation (biology), adaptation, s ...


References


External links


List of mtDNA haplogroup projects
at ISOGG. {{DEFAULTSORT:Human Mitochondrial Dna Haplogroup * Genetics-related lists