Haplogroup L4

Haplogroup L4 is a human mitochondrial DNA (mtDNA) haplogroup. It is a small maternal clade primarily restricted to Africa.[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.
Haplogroup L4
Possible time of origin90–80 kya
Possible place of originEast Africa
AncestorL3'4
DescendantsL4a, L4b
Defining mutations5460, 16362[1]

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 106–66 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. Haplogroups L4.
  3. 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
  4. 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.
  5. "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock Supplementary material (p. 83)" (PDF). 2009: 89. Archived from the original (PDF) on 2009-12-29. {{cite journal}}: Cite journal requires |journal= (help)
  6. 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
Wikimedia Commons has media related to Haplogroup L4 (mtDNA).

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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