Human mitochondrial DNA haplogroup
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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, they (meaning the accidental dictionary ordering of the letters) do not reflect the 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.
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Evolutionary relationship[edit]
Lineage perspective[edit]
This phylogenetic tree is based on the Van Oven 2009 tree[1] and subsequent published research.
Table perspective[edit]
Evolutionary tree of human mitochondrial DNA (mtDNA) haplogroups |
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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 |
Chronological development of haplogroups[edit]
European haplogroups[edit]
Bryan Sykes had claimed there were seven major mitochondrial lineages for modern Europeans but others now put the number at 10-12. These additional "daughters" generally include haplogroups I, M and W. A recent paper re-mapped European haplogroups as H, J, K, N1, T, U4, U5, V, X and W.[2] It should however be noted that haplogroups are arbitrary categories defined by mutations, which themselves are numerous and the result of a random process. It could reasonably be said that there are almost any number of haplogroups present in a particular region. Furthermore, attributing a specific geographic origin to any haplogroup, such as those proposed in the table below, is highly speculative and considered by most population geneticists[who?] to be 'story telling' and outside the domain of science. The same can also be said of inferring a close association between a specific haplogroup and a particular archaeological culture.[who?]
Haplogroup | Possible time of origin | Possible place of origin | Highest frequencies |
N | 75,000 years ago | Western Asia, India or South Asia | |
R | 70,000 years ago | Western Asia, India or South Asia | |
U | 60,000 years ago | North-East Africa or South-West Asia | |
pre-JT | 55,000 years ago | Middle East | |
JT | 50,000 years ago | Middle East | |
U5 | 50,000 years ago | Western Asia | |
U6 | 50,000 years ago | North Africa | |
U8 | 50,000 years ago | Western Asia | |
pre-HV | 50,000 years ago | Near East | |
J | 45,000 years ago | Near East or Caucasus | |
HV | 40,000 years ago | Near East | |
H | over 35,000 years ago | Western Asia | |
X | over 30,000 years ago | north-east Europe | |
U5a1 | 30,000 years ago | Europe | |
I | 30,000 years ago | Caucasus or north-east Europe | |
J1a | 27,000 years ago | Near East | |
W | 25,000 years ago | north-east Europe or north-west Asia | |
U4 | 25,000 years ago | Central Asia | |
J1b | 23,000 years ago | Near East | |
T | 17,000 years ago | Mesopotamia | |
K | 16,000 years ago | Near East | |
V | 15,000 years ago | Iberia and moved to Scandinavia | |
H1b | 13,000 years ago | Europe | |
K1 | 12,000 years ago | Near East | |
H3 | 10,000 years ago | Western Europe (Spain) |
African haplogroups[edit]
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Asian haplogroups[edit]
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F, C, W, M, D, N, K, U, T,A, B, C, Z, U many number variants to each section
See also[edit]
- Genealogy
- Genetics
- Bioinformatics
References[edit]
- ^ 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.
- ^ "Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA haplogroup H in Eurasia"
External links[edit]
- Mitochondrial phylogenetic trees
- Ian Logan's Mitochondrial DNA Site
- Mannis van Oven's PhyloTree.org
- PhyloD3 - D3.js-based phylogenetic tree based on PhyloTree
- Mitochondrial haplogroup skeleton
- Vincent Macaulay's Mitochondrial haplogroup motifs
- Cambridge DNA's An mtDNA view of the peopling of the world by Homo sapiens
- John S. Walden's Map of macro-haplogroup N
- List of mtDNA haplogroup projects
- MitoTool: a web server for the analysis and retrieval of human mitochondrial DNA sequence variations
- HaploGrep: mtDNA haplogroup determination based on PhyloTree.org
- HaploFind - fast automatic haplogroup assignment pipeline for human mitochondrial DNA
- Journal articles
- Behar DM, Metspalu E, Kivisild T, et al. (March 2006). "The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event" (PDF). American Journal of Human Genetics 78 (3): 487–97. doi:10.1086/500307. PMC 1380291. PMID 16404693.
- Sharma S, Saha A, Rai E, Bhat A, Bamezai R (2005). "Human mtDNA hypervariable regions, HVR I and II, hint at deep common maternal founder and subsequent maternal gene flow in Indian population groups". Journal of Human Genetics 50 (10): 497–506. doi:10.1007/s10038-005-0284-2. PMID 16205836.
- Tamm E, Kivisild T, Reidla M, et al. (2007). Carter D, ed. "Beringian standstill and spread of Native American founders". PloS One 2 (9): e829. doi:10.1371/journal.pone.0000829. PMC 1952074. PMID 17786201.
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