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Human mitochondrial DNA haplogroup

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Title: Human mitochondrial DNA haplogroup  
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Subject: Palestinians, Haplogroup L1 (mtDNA), Haplogroup H (mtDNA), Haplogroup L2 (mtDNA), Macro-haplogroup L (mtDNA)
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Human mitochondrial DNA haplogroup

Hypothesized world map of human migrations, with the North Pole at center. Africa, harboring the start of the migration, is at the top left and South America at the far right. Migration patterns are based on studies of mitochondrial (matrilinear) DNA. Letters represent haplogroups while colors and numbers represent thousands of years before present.
Suggested migratory route of the "Out of Africa" migration according to Mitochondrial DNA

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.

Evolutionary relationship

Lineage perspective

This phylogenetic tree is based on the Van Oven 2009 tree[1] and subsequent published research.

Table perspective

Evolutionary 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   A S   R   I W X Y
C Z B F R0   pre-JT P  U

Chronological development of haplogroups

European haplogroups

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 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.

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

Asian haplogroups

See also


  1. ^ van Oven M, Kayser M (February 2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386–94.  
  2. ^ "Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA haplogroup H in Eurasia"

External links

  • Mitochondrial phylogenetic trees
    • Ian Logan's Mitochondrial DNA Site
    • Mannis van Oven's
    • 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
  • HaploFind - fast automatic haplogroup assignment pipeline for human mitochondrial DNA
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