Haplogroup L3 (mtDNA)

Haplogroup L3
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] or Middle East[4]
Ancestor L3'4
Descendants L3a, L3b'f, L3c'd'j, L3e'i'k'x, L3h, M, N
Defining mutations 769, 1018, 16311[5]

Haplogroup L3 is a human mitochondrial DNA (mtDNA) haplogroup. The clade has played a pivotal role in the history of the human species. It represents the most common parent maternal lineage of all people outside of Africa, and for many individuals within the continent as well.[6]

Origin

The exact place of origin of haplogroup L3 is uncertain. According to the Recent African origin of modern humans (Out-of-Africa) theory, the clade is believed to have arisen in and dispersed from East Africa between 84,000 to 104,000 years ago.[1] An analysis of 369 complete African L3 sequences placed the maximal date of the clade's expansion at ∼70 ka. This virtually rules out a successful exit out of Africa before 74 ka, the date of the Toba volcanic super-eruption in Sumatra.[2] 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.[2]

The advent of genomic sequencing has revealed a more widespread ancient distribution of L3 in the Arabian peninsula. As a result, some authorities now instead posit a Middle East center of origin and dispersal for the clade.[4]

Distribution

L3 is common in East Africa, in contrast to others parts of Africa where the haplogroups L1 and L2 represent two thirds of mtDNAs.[7] L3 sublineages are also frequent in the Arabian peninsula.[4]

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.[8] There is at least one relatively deep non-M, non-N clade of L3 outside Africa, L3f1b6, found at 1% in Asturias Spain, which diverged from African L3 lineages at least 10,000 years ago.[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]

Subclade distribution

Tree

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[5] and subsequent published research.

Most Recent Common Ancestor (MRCA)

See also

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   O A S   R   I W X Y
C Z B F R0   pre-JT P  U
HV JT K
H V J T

References

  1. 1 2 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. 1 2 3 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. 1 2 3 J J. Farrell; et al. "The Saudi Arabian Genome Reveals a Two Step Out-of-Africa Migration". ASHG.
  5. 1 2 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.
  6. 1 2 3 4 5 6 7 8 9 Behar, Doron M.; Villems, Richard; Soodyall, Himla; Blue-Smith, Jason; Pereira, Luisa; Metspalu, Ene; Scozzari, Rosaria; Makkan, Heeran; et al. (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.
  7. ↑ Wallace DC et al. (2000), Origin of haplogroup M in Ethiopia, Am J Hum Genet 67(Suppl):217
  8. ↑ 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.
  9. 1 2 Pardiñas, AF; Martínez, JL; Roca, A; García-Vazquez, E; López, B (2014). "Over the sands and far away: Interpreting an Iberian mitochondrial lineage with ancient Western African origins". Am J Hum Biol. 26 (6): 777–83. doi:10.1002/ajhb.22601 (inactive 2015-01-13). PMID 25130626.
  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. 1 2 Mohamed, Hisham Yousif Hassan. "Genetic Patterns of Y-chromosome and Mitochondrial DNA Variation, with Implications to the Peopling of the Sudan" (PDF). University of Khartoum. Retrieved 16 April 2016.
  13. ↑ 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.
  14. 1 2 3 4 5 6 7 Kivisild, T; Reidla, M; Metspalu, E; Rosa, A; Brehm, A; Pennarun, E; Parik, J; Geberhiwot, T; et al. (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.
  15. 1 2 Liane Fendt et al., MtDNA diversity of Ghana: a forensic and phylogeographic view, 2011
  16. ↑ Sheet1 - PLOS Pathogens
  17. ↑ Anderson, S. 2006, Phylogenetic and phylogeographic analysis of African mitochondrial DNA variation.
  18. ↑ Bandelt, HJ; Alves-Silva, J; Guimarães, PE; Santos, MS; Brehm, A; Pereira, L; Coppa, A; Larruga, JM; et al. (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 2015-01-13). PMID 11851985.
  19. ↑ 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.
  20. ↑ 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.
  21. ↑ 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

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

External links

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