Haplogroup defined by differences in human mitochondrial DNA
Contemporary human mtDNA haplogroup distribution, based on analysis of 2,054 individuals from 26 populations.
[1] (a) Pie charts on the map. (b) Counts of haplogroups in table format. For populations details, see
1000 Genomes Project#Human genome samples .
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.
[2]
Phylogeny
mtDNA haplogroup tree and distribution map.
[3] The numbers are haplogroup labels, reported according to the
http://www.phylotree.org/ nomenclature,
[4] and give the location of one of the mutations leading to the derived haplotype. (Only a single branch defining marker, preferably from the coding region, is shown.) The main geographic features of haplogroup distribution are highlighted with colour.
Dispersal route of human mtDNA haplogroups
This phylogenetic tree is based Van Oven (2009).
[4] In June 2022, an alternative phylogeny for haplogroup L was suggested
[5]
Major mtDNA Haplogroups
Estimated world map of human migrations based on 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.
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
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
Dating
Phylogeny
Maps
Ancient
Modern
Databases
Ancient
Modern
See also
References
^ Rishishwar L, Jordan IK (2017).
"Implications of human evolution and admixture for mitochondrial replacement therapy" . BMC Genomics . 18 (1): 140.
doi :
10.1186/s12864-017-3539-3 .
PMC
5299762 .
PMID
28178941 .
^ Loogvali, Eva-Liis; Kivisild, Toomas; Margus, Tõnu; Villems, Richard (2009), O'Rourke, Dennis (ed.), "Explaining the Imperfection of the Molecular Clock of Hominid Mitochondria", PLOS ONE , 4 (12): e8260,
Bibcode :
2009PLoSO...4.8260L ,
doi :
10.1371/journal.pone.0008260 ,
PMC
2794369 ,
PMID
20041137
^ Kivisild T (2015).
"Maternal ancestry and population history from whole mitochondrial genomes" . Investig Genet . 6 : 3.
doi :
10.1186/s13323-015-0022-2 .
PMC
4367903 .
PMID
25798216 .
^
a
b van Oven M, Kayser M (February 2009).
"Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation" . Human Mutation . 30 (2): E386–94.
doi :
10.1002/humu.20921 .
PMID
18853457 .
S2CID
27566749 .
^ Maier P, Runfeldt G, Estes R, Vilar M (2022).
"African mitochondrial haplogroup L7: a 100,000-year-old maternal human lineage discovered through reassessment and new sequencing" . Nature . 12 (1): 10747.
Bibcode :
2022NatSR..1210747M .
doi :
10.1038/s41598-022-13856-0 .
PMC
9232647 .
PMID
35750688 .
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.
^ Villems, Richard; Usanga, Esien; Mikerezi, Ilia; Gölge, Mukaddes; Claustres, Mireille; Michalodimitrakis, Emmanuel N.; Pappa, Kalliopi I.; Anagnou, Nicholas P.; Chaventré, André; Moisan, Jean-Paul; Richard, Christelle; Grechanina, Elena; Balanovska, Elena V.; Rudan, Pavao; Puzyrev, Valery; Stepanov, Vadim; Khusnutdinova, Elsa K.; Gusar, Vladislava; Balanovsky, Oleg P.; Peričić, Marijana; Barać, Lovorka; Golubenko, Maria; Lunkina, Arina; Laos, Sirle; Pennarun, Erwan; Parik, Jüri; Tolk, Helle-Viivi; Reidla, Maere; Tambets, Kristiina; Metspalu, Ene; Kivisild, Toomas; Derenko, Miroslava V.; Malyarchuk, Boris A.; Roostalu, Urmas; Loogväli, Eva-Liis (November 1, 2004).
"Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia" . Molecular Biology and Evolution . 21 (11): 2012–2021.
doi :
10.1093/molbev/msh209 .
PMID
15254257 – via academic.oup.com.
^ Capri, Miriam; Castellani, Gastone; Franceschi, Claudio; Lomartire, Laura; Sevini, Federica; Vianello, Dario (2013-06-12).
"HAPLOFIND: a new method for high-throughput mtDNA haplogroup assignment" . Human Mutation . 34 (9): 1189–1194.
eISSN
1098-1004 .
^ Binna, Robert; Kloss-Brandstätter, Anita; Kronenberg, Florian; Pacher, Dominic; Schönherr, Sebastian; Specht, Günther; Weissensteiner, Hansi (2010-10-19).
"HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups" . Human Mutaton: Variation, Informatics, and Disease . 32 (1): 25–32.
eISSN
1098-1004 .
^ Kronenberg, Florian; Forer, Lukas; Schönherr, Sebastian; Weissensteiner, Hansi (2023-04-23).
"Haplogrep 3 - an interactive haplogroup classification and analysis platform" . Nucleic Acids Research . 51 (1): 263–268.
eISSN
1362-4962 .
^ García-Olivares, Victor; et al. (2021-10-15) [received 2021-08-04].
"A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data" . Scientific Reports . 11 (20510).
eISSN
2045-2322 .
^ Kim, Dong-han; Kim, Kijeong; Kim, Kyung-yong; Kim, Yoonyeong; Kwon, Chulhwan (2020-04-23). "Haplotracker: a web application for simple and accurate mitochondrial haplogrouping using short DNA fragments".
bioRxiv
10.1101/2020.04.23.057646v1 .
^ Kayser, Manfred; van Oven, Mannis (2008-10-13).
"Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation" . Human Mutation . 30 (2): 386–394.
doi :
10.1002/humu.20921 .
eISSN
1098-1004 .
^ Various (2017-05-30).
"Rosenblatt's ancient DNA map" . Anthrogenica .
^ Chyleński, Maciej; Ehler, Edvard; Juras, Anna; Moravčík, Ondřej; Novotný, Jiří; Pačes, Jan (2018-09-24).
"AmtDB: a database of ancient human mitochondrial genomes" . Nucleic Acids Research . 47 (D1): 29–32.
eISSN
1362-4962 .
^ Brown, Michael D.; Kogelnik, Andreas M.; Lott, Marie T.; Navathe, Shamkant B.; Wallace, Douglas C. (1996-01-01).
"MITOMAP: A Human Mitochondrial Genome Database" . Nucleic Acids Research . 24 (1): 177–179.
eISSN
1362-4962 .
External links