Human mitochondrial DNA types

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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's an area of ongoing research with one study reporting one mutation per 8000 years.[2]

 

Phylogeny

Further information: Molecular 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.

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This phylogenetic tree is based Van Oven (2009).[4]

Chronology

Further information: Human mitochondrial molecular clock

Estimated world map of human migrations based on mtDNA haplogroups.

Haplogroup est. time of origin (kya)[5] possible place of origin highest frequencies
L 200  
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  
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 European populations were: H, J, K, N1, T, U4, U5, V, X and W.[6]

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

References

  1. ^ Rishishwar L, Jordan IK (2017). "Implications of human evolution and admixture for mitochondrial replacement therapy"BMC Genomics18 (1): 140. doi:10.1186/s12864-017-3539-3PMC 5299762PMID 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 ONE4 (12): e8260, doi:10.1371/journal.pone.0008260PMC 2794369PMID 20041137
  3. ^ Kivisild T (2015). "Maternal ancestry and population history from whole mitochondrial genomes"Investig Genet6: 3. doi:10.1186/s13323-015-0022-2PMC 4367903PMID 25798216.
  4. 이동:a b van Oven M, Kayser M (February 2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation30 (2): E386–94. doi:10.1002/humu.20921PMID 18853457.
  5. ^ "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.
  6. ^ 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 Evolution21 (11): 2012–2021. doi:10.1093/molbev/msh209PMID 15254257 – via academic.oup.com.

External links

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'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

Mitochondrial phylogenetic trees