Haplogroup_L4_(mtDNA)

Haplogroup L4

Haplogroup L4

African mitochondrial DNA grouping indicating common ancestry


Haplogroup L4 is a human mitochondrial DNA (mtDNA) haplogroup. It is a somewhat uncommon maternal clade primarily found in East Africa, and West Asia.[2]

Projected spatial frequency distribution for haplogroup L4.
Schematic tree of mtDNA haplogroup L4. Ages (in ka) indicated are maximum likelihood estimates obtained for the whole-mtDNA genome.
Quick Facts Possible time of origin, Possible place of origin ...

L4 is important in East Africa. The highest frequencies are in Tanzania among the Hadza at 60-83% and Sandawe at 48%.[3]

It has two branches, L4a and L4b. Subgroup L4a was formerly called L7 and considered a separate subclade of L3'4'7. It has been recognized as a subclade of L4, with L3 as its outgroup by Behar et al. (2008).[4] The parent clade L3'4 is to have emerged at 10666 kya.[5] L4 is not much later than this, estimated at 87 kya by Fernandes et al. (2015).[6]

Phylogeny

The following phylogeny is based on van Oven and Kayser (2008).[1]

  • L3'4
    • L4
      • L4a (formerly known as L7), mutations: 195C, 3357, 5460, 10373, 11253, 11344, 11485, 12414, 13174, 14302, 16260.
        • L4a1
          • L4a1a
        • L4a2
      • L4b, mutations: 709, 3918.
        • L4b1
        • L4b2 (formerly known as L3g or L4g)
          • L4b2a
            • L4b2a1
            • L4b2a2
              • L4b2a2a
              • L4b2a2b
          • L4b2b

References

  1. van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–E394. doi:10.1002/humu.20921. PMID 18853457. S2CID 27566749.
  2. Tishkoff, S. et al. 2007, History of Click-Speaking Populations of Africa Inferred from mtDNA and Y Chromosome Genetic Variation. Molecular Biology and Evolution 2007 24(10):2180-2195
  3. Behar, M.; Villems, R.; Soodyall, H.; Blue-Smith, J.; Pereira, L.; Metspalu, E.; Scozzari, R.; Makkan, H.; Tzur, S.; Comas, D.; Bertranpetit, J.; Quintana-Murci, L.; Tyler-Smith, C.; Wells, R. S.; Rosset, S.; Genographic, C. (May 2008). "The Dawn of Human Matrilineal Diversity". American Journal of Human Genetics. 82 (5): 1130–1140. doi:10.1016/j.ajhg.2008.04.002. ISSN 0002-9297. PMC 2427203. PMID 18439549.
  4. Fernandes V, Triska P, Pereira JB, Alshamali F, Rito T, Machado A, et al. (2015) Genetic Stratigraphy of Key Demographic Events in Arabia. PLoS ONE 10(3): e0118625. doi:10.1371/journal.pone.0118625

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

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