Human mitochondrial DNA haplogroup

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Contemporary human mtDNA haplogroup distribution, based on analysis of 2,054 individuals from 26 populations. (a) Pie charts on the map. (b) Counts of haplogroups in table format. For populations details, see 1000 Genomes Project#Human genome samples. MtDNA haplogroup distribution among 2,054 individuals across 26 populations from the 1000 Genomes Project.png
Contemporary human mtDNA haplogroup distribution, based on analysis of 2,054 individuals from 26 populations. (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.

Contents

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. The numbers are haplogroup labels, reported according to the http://www.phylotree.org/ nomenclature, 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. MtDNA haplogroup tree and distribution map.gif
mtDNA haplogroup tree and distribution map. The numbers are haplogroup labels, reported according to the http://www.phylotree.org/ nomenclature, 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 Migration route of Human mtDNA haplogroups.png
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. Human migrations and mitochondrial haplogroups.PNG
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

HaplogroupEst.time of origin (kya) [6] Possible place of originHighest frequencies
L200 Africa
L1-6170East Africa
L2-6150East Africa
L0150East Africa
L1140Central Africa
L3-6130
L5120
L290
L370East Africa
N70 East Africa or West Asia
M60 East Africa, West Asia or South Asia
R60 South Asia or Southeast Asia
U55North-East Africa or India (South Asia)
RT'JT55Middle East
JT50Middle East
U850Western Asia
R947
B444
F43
U4'942Central Asia
U535Western Asia
U635North Africa
J35
X30
K30
U5a27
HV27Near East
J1a27Near East
T27Mesopotamia
K127
I26
J124Near East
W20
U420Central Asia
X220
H20Western Asia
U5a118Europe
J1b11
V14
X2a13North America
H112
H312
X110

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

See also

Related Research Articles

<span class="mw-page-title-main">Mitochondrial Eve</span> Matrilineal most recent common ancestor of all living humans

In human genetics, the Mitochondrial Eve 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.

<span class="mw-page-title-main">Haplogroup</span> Group of similar haplotypes

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.

<span class="mw-page-title-main">Haplogroup R (mtDNA)</span> Human mitochondrial DNA haplogroup

Haplogroup R is a widely distributed human mitochondrial DNA (mtDNA) haplogroup. Haplogroup R is associated with the peopling of Eurasia after about 70,000 years ago, and is distributed in modern populations throughout the world outside of sub-Saharan Africa.

<span class="mw-page-title-main">Haplogroup N (mtDNA)</span> Widespread human mitochondrial DNA grouping indicating common ancestry

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.

<span class="mw-page-title-main">Haplogroup L3</span> Widespread human mitochondrial DNA grouping indicating common ancestry

Haplogroup L3 is a human mitochondrial DNA (mtDNA) haplogroup. The clade has played a pivotal role in the early dispersal of anatomically modern humans.

Haplogroup L2 is a human mitochondrial DNA (mtDNA) haplogroup with a widespread modern distribution, particularly in Subequatorial Africa. Its L2a subclade is a somewhat frequent and widely distributed mtDNA cluster on the continent, as well as among those in the Americas.

<span class="mw-page-title-main">Haplogroup L1</span> Human mitochondrial DNA grouping indicating common ancestry

Haplogroup L1 is a human mitochondrial DNA (mtDNA) haplogroup. It is most common in Central Africa and West Africa. It diverged from L1-6 at about 140,000 years ago . Its emergence is associated with the early peopling of Africa by anatomically modern humans during the Eemian, and it is now mostly found in African pygmies.

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 JT is a human mitochondrial DNA (mtDNA) haplogroup.

Haplogroup L may refer to:

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.

<span class="mw-page-title-main">Haplogroup L4</span> African mitochondrial DNA grouping indicating common ancestry

Haplogroup L4 is a human mitochondrial DNA (mtDNA) haplogroup. It is a small maternal clade primarily restricted to Africa.

Haplogroup L5 is a human mitochondrial DNA (mtDNA) clade. It was previously known as L1e.

In human mitochondrial genetics, Haplogroup L6 is a human mitochondrial DNA (mtDNA) haplogroup. It is a small African haplogroup.

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.

Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated in Southwest Asia, near present day Syria, around 20,000 to 25,000 years ago. Mitochondrial haplogroup H is today predominantly found in Europe, and is believed to have evolved before the Last Glacial Maximum (LGM). It first expanded in the northern Near East and Southern Caucasus soon, and later migrations from Iberia suggest that the clade reached Europe before the Last Glacial Maximum. The haplogroup has also spread to parts of Africa, Siberia and Inner Asia. Today, around 40% of all maternal lineages in Europe belong to haplogroup H.

<span class="mw-page-title-main">Macro-haplogroup L</span>

In human mitochondrial genetics, L is the mitochondrial DNA macro-haplogroup that is at the root of the anatomically modern human mtDNA phylogenetic tree. As such, it represents the most ancestral mitochondrial lineage of all currently living modern humans, also dubbed "Mitochondrial Eve".

The human mitochondrial molecular clock is the rate at which mutations have been accumulating in the mitochondrial genome of hominids during the course of human evolution. The archeological record of human activity from early periods in human prehistory is relatively limited and its interpretation has been controversial. Because of the uncertainties from the archeological record, scientists have turned to molecular dating techniques in order to refine the timeline of human evolution. A major goal of scientists in the field is to develop an accurate hominid mitochondrial molecular clock which could then be used to confidently date events that occurred during the course of human evolution.

References

  1. 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.
  2. 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
  3. 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.
  4. 1 2 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.
  5. 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. doi: 10.1038/s41598-022-13856-0 . PMC   9232647 . S2CID   250021505.
  6. "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock Supplementary" (PDF). 2009: 82–83 [89]. Archived from the original (PDF) on 2009-12-29.{{cite journal}}: Cite journal requires |journal= (help)
  7. 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.

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