Haplogroup L3 (mtDNA)

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Haplogroup L3

Map-of-human-migrations.jpg

Possible time of origin 80,000 to 104,000 YBP [1] OR 60,000 to 70,000 YBP [2]
Possible place of origin East Africa[3]
Ancestor L3'4
Descendants L3a, L3b'f, L3c'd'j, L3e'i'k'x, L3h, M, N
Defining mutations 769, 1018, 16311[4]

In human mitochondrial genetics, Haplogroup L3 is a human mitochondrial DNA (mtDNA) haplogroup. Haplogroup L3 has played a pivotal role in the history of the human species. Soon after the haplogroup arose in East Africa a relatively small number of migrants carried it across the Red Sea to Arabia, inaugurating an intercontinental migration that eventually settled every major land mass on Earth except Antarctica. That small group also gave rise to every non-African haplogroup.[5]

Origin[edit]

L3 is believed to have arisen in Eastern Africa between 84,000 to 104,000 years ago.[1] An analysis of 369 complete African L3 sequences places the maximum of its expansion at ∼70 ka, virtually ruling out a successful exit out of Africa before 74 ka, the date of the Toba volcanic super-eruption in Sumatra. [6] The Time to Most Recent Common Ancestor for the L3 lineage has also recently been estimated to be between 58,900 to 70,200 Years ago.[7]

Distribution[edit]

It is most common in East Africa, in contrast to others parts of Africa where the haplogroups L1 and L2 represent two thirds of mtDNAs.[8]

L3 is sub-divided into several clades, two of which spawned the macro-haplogroups M and N from which the vast majority of non-Africans are descended.

One of these lineages, defined by loss of the DdeI site at np 10394, represents only a few percent of the African mtDNAs but appears to be the progenitor of roughly half of all European, Asian and Native American mtDNAs."[9]

According to Maca-Meyer et al. (2001), "L3 is more related to Eurasian haplogroups than to the most divergent African clusters L1 and L2".[10] L3 is the haplogroup from which all modern humans outside of Africa derive.[11]

African Subgroups distribution[edit]

Tree[edit]

This phylogenetic tree of haplogroup L3 subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[4] and subsequent published research.

Most Recent Common Ancestor (MRCA)

  • L1-6
    • L2-6
      • L2'3'4'6
        • L3'4'6
          • L3'4
            • L3
              • L3a
              • L3b'f
                • L3b
                  • L3b1
                    • L3b1a
                      • L3b1a1
                      • L3b1a2
                    • L3b1b
                      • L3b1b1
                  • L3b2
                • L3f
                  • L3f1
                    • L3f1a
                    • L3f1b
                      • L3f1b1
                      • L3f1b2
                        • L3f1b2a
                      • 150
                        • L3f1b3
                        • L3f1b4
                          • L3f1b4a
                            • L3f1b4a1
                  • L3f2
                    • L3f2b
                  • L3f3
              • L3c'd'j
                • L3c
                • L3d
                  • L3d1-5
                    • L3d1
                      • L3d1a
                        • L3d1a1
                          • L3d1a1a
                      • L3d1b
                        • L3d1b1
                      • L3d1c
                      • L3d1d
                    • 199
                      • L3d2
                      • L3d5
                    • L3d3
                      • L3d3a
                    • L3d4
                    • L3d5
                • L3j
              • L3e'i'k'x
                • L3e
                  • L3e1
                    • L3e1a
                      • L3e1a1
                        • L3e1a1a
                      • 152
                        • L3e1a2
                        • L3e1a3
                    • L3e1b
                    • L3e1c
                    • L3e1d
                    • L3e1e
                  • L3e2
                    • L3e2a
                      • L3e2a1
                        • L3e2a1a
                        • L3e2a1b
                          • L3e2a1b1
                    • L3e2b
                      • L3e2b1
                        • L32b1a
                      • L3e2b2
                      • L3e2b3
                  • L3e3'4'5
                    • L3e3'4
                      • L3e3
                        • L3e3a
                        • L3e3b
                          • L3e3b1
                        • L3e4
                    • L3e5
                • L3i
                  • L3i1
                    • L3i1a
                    • L3i1b
                  • L3i2
                • L3k
                • L3x
                  • L3x1
                  • L3x2
                    • L3x2a
                      • L3x2a1
                        • L3x2a1a
                    • L3x2b
              • L3h
                • L3h1
                  • L3h1a
                    • L3h1a1
                    • L3h1a2
                      • L3h1a2a
                      • L3h1a2b
                  • L3h1b
                    • L3h1b1
                      • L3h1b1a
                        • L3h1b1a1
                    • L3h1b2
                • L3h2
              • M
              • N

See also[edit]

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
HV JT K
H V J T

References[edit]

  1. ^ a b Gonder, M. K.; Mortensen, H. M.; Reed, F. A.; De Sousa, A.; Tishkoff, S. A. (2006). "Whole-mtDNA Genome Sequence Analysis of Ancient African Lineages". Molecular Biology and Evolution 24 (3): 757–68. doi:10.1093/molbev/msl209. PMID 17194802. 
  2. ^ http://mbe.oxfordjournals.org/content/early/2011/11/16/molbev.msr245.short?rss=1
  3. ^ Salas, A; Richards, Martin; de la Fe, Tomás; Lareu, María-Victoria; Sobrino, Beatriz; Sánchez-Diz, Paula; MacAulay, Vincent; Carracedo, Ángel (2002). "The Making of the African mtDNA Landscape". The American Journal of Human Genetics 71 (5): 1082–111. doi:10.1086/344348. PMC 385086. PMID 12395296. 
  4. ^ a b Van Oven, Mannis; Kayser, Manfred (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457. 
  5. ^ a b c d e f g h i Behar, Doron M.; Villems, Richard; Soodyall, Himla; Blue-Smith, Jason; Pereira, Luisa; Metspalu, Ene; Scozzari, Rosaria; Makkan, Heeran; Tzur, Shay (2008). "The Dawn of Human Matrilineal Diversity". The American Journal of Human Genetics 82 (5): 1130–40. doi:10.1016/j.ajhg.2008.04.002. PMC 2427203. PMID 18439549. 
  6. ^ http://mbe.oxfordjournals.org/content/early/2011/11/16/molbev.msr245.short?rss=1
  7. ^ http://mbe.oxfordjournals.org/content/early/2011/11/16/molbev.msr245.short?rss=1
  8. ^ Wallace DC et al. (2000), Origin of haplogroup M in Ethiopia, Am J Hum Genet 67(Suppl):217[verification needed]
  9. ^ Wallace, D; Brown, MD; Lott, MT (1999). "Mitochondrial DNA variation in human evolution and disease". Gene 238 (1): 211–30. doi:10.1016/S0378-1119(99)00295-4. PMID 10570998. 
  10. ^ Maca-Meyer, Nicole; González, Ana M; Larruga, José M; Flores, Carlos; Cabrera, Vicente M (2001). "Major genomic mitochondrial lineages delineate early human expansions". BMC Genetics 2: 13. doi:10.1186/1471-2156-2-13. PMC 55343. PMID 11553319. 
  11. ^ https://www.cambridgedna.com/genealogy-dna-ancient-migrations-slideshow.php?view=step3
  12. ^ Černý, Viktor; Fernandes, Verónica; Costa, Marta D; Hájek, Martin; Mulligan, Connie J; Pereira, Luísa (2009). "Migration of Chadic speaking pastoralists within Africa based on population structure of Chad Basin and phylogeography of mitochondrial L3f haplogroup". BMC Evolutionary Biology 9: 63. doi:10.1186/1471-2148-9-63. PMC 2680838. PMID 19309521. 
  13. ^ a b c d e f g Kivisild, T; Reidla, M; Metspalu, E; Rosa, A; Brehm, A; Pennarun, E; Parik, J; Geberhiwot, T; Usanga, E (2004). "Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears". The American Journal of Human Genetics 75 (5): 752–70. doi:10.1086/425161. PMC 1182106. PMID 15457403. 
  14. ^ a b Liane Fendt et al., MtDNA diversity of Ghana: a forensic and phylogeographic view, 2011
  15. ^ Anderson, S. 2006, Phylogenetic and phylogeographic analysis of African mitochondrial DNA variation.
  16. ^ Bandelt, HJ; Alves-Silva, J; Guimarães, PE; Santos, MS; Brehm, A; Pereira, L; Coppa, A; Larruga, JM; Rengo, C (2001). "Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade". Annals of Human Genetics 65 (Pt 6): 549–63. doi:10.1017/S0003480001008892 (inactive 2014-01-20). PMID 11851985. 
  17. ^ Plaza, Stéphanie; Salas, Antonio; Calafell, Francesc; Corte-Real, Francisco; Bertranpetit, Jaume; Carracedo, Ángel; Comas, David (2004). "Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola". Human Genetics 115 (5): 439–47. doi:10.1007/s00439-004-1164-0. PMID 15340834. 
  18. ^ Fadhlaoui-Zid, K.; Plaza, S.; Calafell, F.; Ben Amor, M.; Comas, D.; Bennamar, A.; Gaaied, El (2004). "Mitochondrial DNA Heterogeneity in Tunisian Berbers". Annals of Human Genetics 68 (Pt 3): 222–33. doi:10.1046/j.1529-8817.2004.00096.x. PMID 15180702. 
  19. ^ Watson, E; Forster, P; Richards, M; Bandelt, H (1997). "Mitochondrial Footprints of Human Expansions in Africa". The American Journal of Human Genetics 61 (3): 691–704. doi:10.1086/515503. PMC 1715955. PMID 9326335. 
  20. ^ Stevanovitch, A.; Gilles, A.; Bouzaid, E.; Kefi, R.; Paris, F.; Gayraud, R. P.; Spadoni, J. L.; El-Chenawi, F.; Beraud-Colomb, E. (2004). "Mitochondrial DNA Sequence Diversity in a Sedentary Population from Egypt". Annals of Human Genetics 68 (Pt 1): 23–39. doi:10.1046/j.1529-8817.2003.00057.x. PMID 14748828. 

Notes[edit]

  1. ^ GUR46 on table 1. is a mtDNA haplogroup L3x2a.

External links[edit]