Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 89, 25-58

African Human mtDNA Phylogeography At-A-Glance


African Human mtDNA Phylogeography At-A-Glance

Alexandra Rosa et al. J Anthropol Sci.


The mitochondrial DNA (mtDNA) genetic system has long proven to be useful for studying the demographic history of our species, since their proposed Southeast/East African origin 200 kya. Despite the weak archaeological and anthropologic records, which render a difficult understanding of early intra- continental migrations, the phylogenetic L0-L1'6 split at about 140-160 kya is thought to represent also an early sub-structuring of small and isolated communities in South and East Africa. Regional variation accumulated over the following millennia, with L2 and L3 lineages arising in Central and East Africa 100-75 kya. Their sub-Saharan dispersal not later than 60 kya, largely overwhelmed the L0'1 distribution, nowadays limited to South African Khoisan and Central African Pygmies. Cyclic expansions and retractions of the equatorial forest between 40 kya and the "Last Glacial Aridity Maximum" were able to reduce the genetic diversity of modern humans. Surviving regional-specific lineages have emerged from the Sahelian refuge areas, repopulating the region and contributing to the overall West African genetic similarity. Particular L1- L3 lineages mirror the substantial population growth made possible by moister and warmer conditions of the Sahara's Wet Phase and the adoption of agriculture and iron smelting techniques. The diffusion of the farming expertise from a Central African source towards South Africa was mediated by the Bantu people 3 kya. The strong impact of their gene flow almost erased the pre-existent maternal pool. Non-L mtDNAs testify for Eurasian lineages that have enriched the African maternal pool at different timeframes: i) Near and Middle Eastern influences in Upper Palaeolithic, probably link to the spread of Afro-Asiatic languages; ii) particular lineages from West Eurasia around or after the glacial period; iii) post-glacial mtDNA signatures from the Franco-Cantabrian refugia, that have crossed the Strait of Gibraltar and iv) Eurasian lineages tracing back to the Neolithic or more recent historical episodes. Finally, the non-random sub-Saharan spread of North African lineages was likely mediated by the ancestors of Fulani, nomadic pastoral communities in the Sahel.

Similar articles

See all similar articles

Cited by 17 articles

  • The association of mitochondrial DNA haplogroups with POAG in African Americans.
    Gudiseva HV, Pistilli M, Salowe R, Singh LN, Collins DW, Cole B, He J, Merriam S, Khachataryan N, Henderer J, Addis V, Cui QN, Sankar PS, Miller-Ellis E, Chavali VRM, Ying GS, Wallace D, O'Brien JM. Gudiseva HV, et al. Exp Eye Res. 2019 Apr;181:85-89. doi: 10.1016/j.exer.2019.01.015. Epub 2019 Jan 15. Exp Eye Res. 2019. PMID: 30653964
  • Genetic structure and sex-biased gene flow in the history of southern African populations.
    Bajić V, Barbieri C, Hübner A, Güldemann T, Naumann C, Gerlach L, Berthold F, Nakagawa H, Mpoloka SW, Roewer L, Purps J, Stoneking M, Pakendorf B. Bajić V, et al. Am J Phys Anthropol. 2018 Nov;167(3):656-671. doi: 10.1002/ajpa.23694. Epub 2018 Sep 7. Am J Phys Anthropol. 2018. PMID: 30192370 Free PMC article.
  • Mitochondrial DNA ancestry, HPV infection and the risk of cervical cancer in a multiethnic population of northeastern Argentina.
    Badano I, Sanabria DJ, Totaro ME, Rubinstein S, Gili JA, Liotta DJ, Picconi MA, Campos RH, Schurr TG. Badano I, et al. PLoS One. 2018 Jan 12;13(1):e0190966. doi: 10.1371/journal.pone.0190966. eCollection 2018. PLoS One. 2018. PMID: 29329337 Free PMC article.
  • The maternal genetic make-up of the Iberian Peninsula between the Neolithic and the Early Bronze Age.
    Szécsényi-Nagy A, Roth C, Brandt G, Rihuete-Herrada C, Tejedor-Rodríguez C, Held P, García-Martínez-de-Lagrán Í, Arcusa Magallón H, Zesch S, Knipper C, Bánffy E, Friederich S, Meller H, Bueno Ramírez P, Barroso Bermejo R, de Balbín Behrmann R, Herrero-Corral AM, Flores Fernández R, Alonso Fernández C, Jiménez Echevarria J, Rindlisbacher L, Oliart C, Fregeiro MI, Soriano I, Vicente O, Micó R, Lull V, Soler Díaz J, López Padilla JA, Roca de Togores Muñoz C, Hernández Pérez MS, Jover Maestre FJ, Lomba Maurandi J, Avilés Fernández A, Lillios KT, Silva AM, Magalhães Ramalho M, Oosterbeek LM, Cunha C, Waterman AJ, Roig Buxó J, Martínez A, Ponce Martínez J, Hunt Ortiz M, Mejías-García JC, Pecero Espín JC, Cruz-Auñón Briones R, Tomé T, Carmona Ballestero E, Cardoso JL, Araújo AC, Liesau von Lettow-Vorbeck C, Blasco Bosqued C, Ríos Mendoza P, Pujante A, Royo-Guillén JI, Esquembre Beviá MA, Dos Santos Goncalves VM, Parreira R, Morán Hernández E, Méndez Izquierdo E, Vega Y Miguel J, Menduiña García R, Martínez Calvo V, López Jiménez O, Krause J, Pichler SL, Garrido-Pena R, Kunst M, Risch R, Rojo-Guerra MA, Haak W, Alt KW. Szécsényi-Nagy A, et al. Sci Rep. 2017 Nov 15;7(1):15644. doi: 10.1038/s41598-017-15480-9. Sci Rep. 2017. PMID: 29142317 Free PMC article.
  • Population resequencing of European mitochondrial genomes highlights sex-bias in Bronze Age demographic expansions.
    Batini C, Hallast P, Vågene ÅJ, Zadik D, Eriksen HA, Pamjav H, Sajantila A, Wetton JH, Jobling MA. Batini C, et al. Sci Rep. 2017 Sep 21;7(1):12086. doi: 10.1038/s41598-017-11307-9. Sci Rep. 2017. PMID: 28935946 Free PMC article.
See all "Cited by" articles

MeSH terms


LinkOut - more resources