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In human mitochondrial genetics, L is the mitochondrial DNA macro-haplogroup that is at the root of the human mtDNA phylogenetic tree. As such, it represents the most ancestral mitochondrial lineage of all currently living modern humans, also dubbed "Mitochondrial Eve".

Haplogroup L
Time of origin150 to 230 ka[1][2]
Place of originEastern Africa[3]
DescendantsL0, L1-6

Its major sub-clades include L0, L1, L2, L3, L4, L5 and L6, with all ancient non-Africans exclusively descended from just haplogroup L3.

Haplogroup L3 descendants notwithstanding, the designation "haplogroup L" is typically used to designate the family of mtDNA clades that are most frequently found in Sub-Saharan Africa. However, all non-African haplogroups coalesce onto either haplogroup M or haplogroup N, and both these macrohaplogroups are simply sub-branches of haplogroup L3. Consequently, L in its broadest definition is really a paragroup containing all of modern humanity, and all human mitochondrial DNA from around the world are subclades of haplogroup L. Haplogroups M and N are sometimes referred to as haplogroups L3M and L3N respectively. Mitochondrial Eve is defined as the female human ancestor who is the most recent common ancestor of the most deep-rooted lineages of humanity: haplogroups L, L0 and L1-6.

Haplogroup L phylogeny


















Studies of human mitochondrial (mt) DNA genomes demonstrate that the root of the human phylogenetic tree occurs in East Africa. The data suggest that Tanzanians have high genetic diversity and possess ancient mtDNA haplogroups, some of which are either rare or absent in other regions of Africa. A large and diverse human population has persisted in eastern Africa and that region may have been an ancient source of dispersion of modern humans both within and outside of Africa.[3]

Mitochondrial Eve is the ancestor of this macro-haplogroup and she is estimated to have lived approximately 160,000 years ago.[1]


Putting aside its sub-branches, haplogroups M and N, L haplogroups are predominant all over sub-Saharan Africa; L is at 96–100%, apart. It is found in North Africa, Arabian Peninsula, Middle East, Americas, Europe, ranging from low to high frequencies depending on the country.


With the exception of a number of lineages that returned to Africa from Eurasia after the out of Africa migration, all African lineages belong to haplogroup L. The "back-to-Africa" haplogroups including U6, X1 and possibly M1 have returned to Africa possibly as far back as 45,000 years ago.[4] Haplogroup H, which is common among Berbers, is also believed to have entered Africa from Europe during the post-glacial expansion.[5]

The mutations that are used to identify the basal lineages of haplogroup L, are ancient and may be 150,000 years old. The deep time depth of these lineages entails that substructure of this haplogroup within Africa is complex and, at present, poorly understood.[6] The first split within haplogroup L occurred 140–200kya, with the mutations that define macrohaplogroups L0 and L1-6. These two haplogroups are found throughout Africa at varying frequencies and thus exhibit an entangled pattern of mtDNA variation. However the distribution of some subclades of haplogroup L is structured around geographic or ethnic units. For example, the deepest clades of haplogroup L0, L0d and L0k are almost exclusively restricted to the Khoisan of southern Africa. L0d has also been detected among the Sandawe of Tanzania, which suggests an ancient connection between the Khoisan and East African populations.[7]

Macro-haplogroup L (mtDNA) composition within Africa. Approximate frequencies in:
  1. North Africa.[8][9]
  2. Sudan.[9]
  3. Ethiopia.[9][10]
  4. West Africa.[8]
  5. East Africa (Kenya, Uganda, Tanzania).[9][11][12]
  6. Southeast Africa (Mozambique).[13]
  7. Native Southern Africans (!Xung, !Kung and Khwe khoisans).[11][14]
  8. Mbenga Pygmies (Baka, Bi-Aka and Ba-Kola).[11][15]
  9. Ba-Mbuti Pygmies.[11]
  10. Hadza/Sandawe.[11]

North AfricaEdit

Haplogroup L is also found at moderate frequencies in North Africa. For example, the various Berber populations have frequencies of haplogroup L lineages that range from 3% to 45%.[16][17] Haplogroup L has also been found at a small frequency of 2.2% in North African Jews from Morocco, Tunisia and Libya. Frequency was the highest in Libyan Jews 3.6%.[18] Moroccan Arabs have more elevated SSA maternal admixture at around 21% to 36% Via L-mtDNA sequences, Highest frequencies of L-mtDNA is reported to Moroccan Arabs of The Surrounding area of El jadida at 33%[19]

West AsiaEdit

Haplogroup L is also found in West Asia at low to moderate frequencies, most notably in Yemen where frequencies as high as 60% have been reported.[20] It is also found at 15.50% in Bedouins from Israel, 13.68% in Palestinians, 12.55% in Jordanians, 9.48% in Iraqis, 9.15% in Syrians, 7.5% in the Hazara of Afghanistan, 6.66% in Saudi Arabians, 2.84% in Lebanese, 2.60% in Druzes from Israel, 2.44% in Kurds and 1.76% in Turks.[21][22] Overall the Arab slave trade and expansion of foreign empires that encapsulated Saudi Arabia were linked to the negligible presence of haplogroup L in the Saudi Arabian gene pool.[23]


In Europe, haplogroup L is found at low frequencies, typically less than 1% with the exception of Iberia (Spain and Portugal) where regional frequencies as high as 18.2% have been reported and some regions of Italy where frequencies between 2 and 3% have been found.

Overall frequency in Iberia is higher in Portugal than in Spain where frequencies are only high in the south and west of the country. Increasing frequencies are observed for Galicia (3.26%) and northern Portugal (3.21%), through the center (5.02%) and to the south of Portugal (11.38%).[24] Relatively high frequencies of 7.40% and 8.30% were also reported respectively in South Spain, in the present population of Huelva and Priego de Cordoba by Casas et al. 2006.[25] Significant frequencies were also found in the Autonomous regions of Portugal, with L haplogroups constituting about 13% of the lineages in Madeira and 3.4% in the Azores. In the Spanish archipelago of Canary Islands, frequencies have been reported at 6.6%.[26] According to some researchers L lineages in Iberia are associated to Islamic invasions, while for others it may be due to more ancient processes as well as more recent ones through the introduction of these lineages by means of the modern slave trade. The highest frequency (18.2%) of Sub-Saharan lineages found so far in Europe were observed by Alvarez et al. 2010 in the comarca of Sayago in Spain and in Alcacer do Sal in Portugal.[27][28]

In Italy, Haplogroup L lineages are present in some regions at frequencies between 2 and 3% in Latium (2.90%), parts of Tuscany,[22] Basilicata and Sicily.[29]

In 2015 study found that a prehistoric episode would be the main contributor to the sub-Saharan presence in Mediterranean Europe and Iberia [30] A 2018 study ascribed high levels of African admixture in Spain and Portugal to two separate episodes, one during the North African Islamic expansions into Iberia and one later one, possibly related to the slave trade. [31]

The AmericasEdit

Haplogroup L lineages are found in the African diaspora of the Americas as well as indigenous Americans. Haplogroup L lineages are predominant among African Americans, Afro-Caribbeans and Afro-Latin-Americans. In Brazil, Pena et al. report that 85% of self-identified Afro-Brazilians have Haplogroup L mtDNA sequences.[32] Haplogroup L lineages are also found at moderate frequencies in self-identified White Brazilians. Alves Silva reports that 28% of a sample of White Brazilians belong to haplogroup L.[33] In Argentina, a minor contribution of African lineages was observed throughout the country.[34] Haplogroup L lineages were also reported at 8% in Colombia,[35] and at 4.50% in North-Central Mexico.[36] In North America, haplogroup L lineages were reported at a frequency of 0.90% in White Americans of European ancestry.[37]

Haplogroup L Frequencies (> 1%)Edit

Region Population or Country Number tested Reference %
North Africa Libya (Jews) 83 Behar et al. (2008) 3.60%
North Africa Tunisia (Jews) 37 Behar et al. (2008) 2.20%
North Africa Morocco (Jews) 149 Behar et al. (2008) 1.34%
North Africa Tunisia 64 Turchi et al. (2009) 48.40%
North Africa Tunisia (Takrouna) 33 Frigi et al. (2006) 3.03%
North Africa Tunisia (Zriba) 50 Turchi et al. (2009) 8.00%
North Africa Morocco 56 Turchi et al. (2009) 26.80%
North Africa Morocco (Berbers) 64 Turchi et al. (2009) 3.20%
North Africa Algeria (Mozabites) 85 Turchi et al. (2009) 12.90%
North Africa Algeria 47 Turchi et al. (2009) 20.70%
Europe Italy (Latium) 138 Achilli et al. (2007) 2.90%
Europe Italy (Volterra) 114 Achilli et al. (2007) 2.60%
Europe Italy (Basilicata) 92 Ottoni et al. (2009) 2.20%
Europe Italy (Sicily) 154 Ottoni et al. (2009) 2.00%
Europe Malta 132 Caruana et al. (2016) 15.90%[38]
Europe Spain 312 Alvarez et al. (2007) 2.90%
Europe Spain (Galicia) 92 Pereira et al. (2005) 3.30%
Europe Spain (North East) 118 Pereira et al. (2005) 2.54%
Europe Spain (Priego de Cordoba) 108 Casas et al. (2006) 8.30%
Europe Spain (Zamora) 214 Alvarez et al. (2010) 4.70%
Europe Spain (Sayago) 33 Alvarez et al. (2010) 18.18%
Europe Spain (Catalonia) 101 Alvarez-Iglesias et al. (2009) 2.97%
Europe South Iberia 310 Casas et al. (2006) 7.40%
Europe Spain (Canaries) 300 Brehm et al. (2003) 6.60%
Europe Spain (Balearic Islands) 231 Picornell et al. (2005) 2.20%
Europe Spain (Andalusia) 1004 Barral-Arca et al. (2016) 2.6%
Europe Spain (Castilla y Leon) 428 Barral-Arca et al. (2016) 2.1%
Europe Spain (Aragón) 70 Barral-Arca et al. (2016) 4.3%
Europe Spain (Asturias) 99 Barral-Arca et al. (2016) 4.0%
Europe Spain (Galicia) 98 Barral-Arca et al. (2016) 2.0%
Europe Spain (Madrid) 178 Barral-Arca et al. (2016) 1.70%
Europe Spain (Castilla-La Mancha) 207 Barral-Arca et al. (2016) 1.40%
Europe Spain (Extremadura) 87 Barral-Arca et al. (2016) 1.10%
Europe Spain (Huelva) 280 Hernández et al. (2015) 3.93%
Europe Spain (Granada) 470 Hernández et al. (2015) 1.49%
Europe Portugal 594 Achilli et al. (2007) 6.90%
Europe Portugal (North) 188 Achilli et al. (2007) 3.19%
Europe Portugal (Central) 203 Achilli et al. (2007) 6.40%
Europe Portugal (South) 203 Achilli et al. (2007) 10.84%
Europe Portugal 549 Pereira et al. (2005) 5.83%
Europe Portugal (North) 187 Pereira et al. (2005) 3.21%
Europe Portugal (Central) 239 Pereira et al. (2005) 5.02%
Europe Portugal (South) 123 Pereira et al. (2005) 11.38%
Europe Portugal (Madeira) 155 Brehm et al. (2003) 12.90%
Europe Portugal (Açores) 179 Brehm et al. (2003) 3.40%
Europe Portugal (Alcacer do Sal) 50 Pereira et al. (2010) 22.00%
Europe Portugal (Coruche) 160 Pereira et al. (2010) 8.70%
Europe Portugal (Pias) 75 Pereira et al. (2010) 3.90%
Europe Portugal 1429 Barral-Arca et al. (2016) 6.16%
West Asia Yemen 115 Kivisild et al. (2004) 45.70%
West Asia Yemen (Jews) 119 Behar et al. (2008) 16.81%
West Asia Bedouins (Israel) 58 Behar et al. (2008) 15.50%
West Asia Palestinians (Israel) 117 Achilli et al. (2007) 13.68%
West Asia Jordania 494 Achilli et al. (2007) 12.50%
West Asia Iraq 116 Achilli et al. (2007) 9.48%
West Asia Syria 328 Achilli et al. (2007) 9.15%
West Asia Saudi Arabia 120 Abu-Amero et al. (2007) 6.66%
West Asia Lebanon 176 Achilli et al. (2007) 2.84%
West Asia Druzes (Israel) 77 Behar et al. (2008) 2.60%
West Asia Kurds 82 Achilli et al. (2007) 2.44%
West Asia Turkey 340 Achilli et al. (2007) 1.76%
South America Colombia (Antioquia) 113 Bedoya et al. (2006) 8.00%
North America Mexico (North-Central) 223 Green et al. (2000) 4.50%
South America Argentina 246 Corach et al. (2009) 2.03%

See alsoEdit


  1. ^ a b 151.6–233.6 ka 95% CI according to: Soares P, Ermini L, Thomson N, et al. (June 2009). "Correcting for purifying selection: an improved human mitochondrial molecular clock". Am. J. Hum. Genet. 84 (6): 740–59. doi:10.1016/j.ajhg.2009.05.001. PMC 2694979. PMID 19500773.
  2. ^ Age estimates (ka, 95% CI in angular brackets): ML whole-mtDNA age estimate: 178.8 [155.6; 202.2], ρ whole-mtDNA age estimate: 185.2 [153.8; 216.9], ρ synonymous age estimate (ka): 174.8 [153.8; 216.9]: Rito T, Richards MB, Fernandes V, Alshamali F, Cerny V, Pereira L, Soares P., "The first modern human dispersals across Africa", PLoS One 2013 Nov 13; 8(11):e80031. doi: 10.1371/journal.pone.0080031.
  3. ^ a b Gonder MK, Mortensen HM, Reed FA, de Sousa A, Tishkoff SA (March 2007). "Whole-mtDNA genome sequence analysis of ancient African lineages". Mol. Biol. Evol. 24 (3): 757–68. doi:10.1093/molbev/msl209. PMID 17194802.
  4. ^ Olivieri A, Achilli A, Pala M, et al. (December 2006). "The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa". Science. 314 (5806): 1767–70. Bibcode:2006Sci...314.1767O. doi:10.1126/science.1135566. PMID 17170302.
  5. ^ Cherni L, Fernandes V, Pereira JB, et al. (June 2009). "Post-last glacial maximum expansion from Iberia to North Africa revealed by fine characterization of mtDNA H haplogroup in Tunisia". American Journal of Physical Anthropology. 139 (2): 253–60. doi:10.1002/ajpa.20979. PMID 19090581.
  6. ^ Behar DM, Villems R, Soodyall H, et al. (May 2008). "The dawn of human matrilineal diversity". American Journal of Human Genetics. 82 (5): 1130–40. doi:10.1016/j.ajhg.2008.04.002. PMC 2427203. PMID 18439549.
  7. ^ Gonder MK, Mortensen HM, Reed FA, de Sousa A, Tishkoff SA (March 2007). "Whole-mtDNA genome sequence analysis of ancient African lineages". Molecular Biology and Evolution. 24 (3): 757–68. doi:10.1093/molbev/msl209. PMID 17194802. the presence of haplogroups N1 and J in Tanzania suggest "back" migration from the Middle East or Eurasia into eastern Africa, which has been inferred from previous studies of other populations in eastern Africa
  8. ^ a b Rosa A. et al. 2004, MtDNA Profile of West Africa Guineans: Towards a Better Understanding of the Senegambia Region.
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  12. ^ Anderson, Sadie 2006, Phylogenetic and phylogeographic analysis of African mitochondrial DNA variation. Archived 2011-09-10 at the Wayback Machine
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  14. ^ Chen YS, Olckers A, Schurr TG, Kogelnik AM, Huoponen K, Wallace DC (April 2000). "mtDNA variation in the South African Kung and Khwe-and their genetic relationships to other African populations". Am. J. Hum. Genet. 66 (4): 1362–83. doi:10.1086/302848. PMC 1288201. PMID 10739760.
  15. ^ Quintana, Lluis et al 2003, MtDNA diversity in Central Africa: from hunter-gathering to agriculturalism
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  21. ^ Whale, John Willian (September 2012). "Mitochondrial DNA Analysis of Four Ethnic Groups of Afghanistan" (PDF). University of Portsmouth. Archived from the original (PDF) on 2017-08-02. Retrieved 2 August 2017.
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  29. ^ Ottoni C, Martinez-Labarga C, Vitelli L, et al. (2009). "Human mitochondrial DNA variation in Southern Italy". Annals of Human Biology. 36 (6): 785–811. doi:10.3109/03014460903198509. PMID 19852679.
  30. ^ Hernández, Candela L.; Soares, Pedro; Dugoujon, Jean M.; Novelletto, Andrea; Rodríguez, Juan N.; Rito, Teresa; Oliveira, Marisa; Melhaoui, Mohammed; Baali, Abdellatif; Pereira, Luisa; Calderón, Rosario (2015). "Early Holocenic and Historic mtDNA African Signatures in the Iberian Peninsula: The Andalusian Region as a Paradigm". PLOS ONE. 10 (10): e0139784. doi:10.1371/journal.pone.0139784. PMC 4624789. PMID 26509580.
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  32. ^ Pena, S.D.J.; Bastos-Rodrigues, L.; Pimenta, J.R.; Bydlowski, S.P. (2009). "DNA tests probe the genomic ancestry of Brazilians". Brazilian Journal of Medical and Biological Research. 42 (10): 870–76. doi:10.1590/S0100-879X2009005000026. PMID 19738982.
  33. ^ Alves-Silva J, da Silva Santos M, Guimarães PE, et al. (August 2000). "The ancestry of Brazilian mtDNA lineages". American Journal of Human Genetics. 67 (2): 444–61. doi:10.1086/303004. PMC 1287189. PMID 10873790.
  34. ^ Bobillo MC, Zimmermann B, Sala A, et al. (August 2009). "Amerindian mitochondrial DNA haplogroups predominate in the population of Argentina: towards a first nationwide forensic mitochondrial DNA sequence database". International Journal of Legal Medicine. 124 (4): 263–68. doi:10.1007/s00414-009-0366-3. PMID 19680675.
  35. ^ Bedoya G, Montoya P, García J, et al. (May 2006). "Admixture dynamics in Hispanics: a shift in the nuclear genetic ancestry of a South American population isolate". Proceedings of the National Academy of Sciences of the United States of America. 103 (19): 7234–49. Bibcode:2006PNAS..103.7234B. doi:10.1073/pnas.0508716103. PMC 1464326. PMID 16648268.
  36. ^ Green LD, Derr JN, Knight A (March 2000). "mtDNA affinities of the peoples of North-Central Mexico". American Journal of Human Genetics. 66 (3): 989–98. doi:10.1086/302801. PMC 1288179. PMID 10712213.
  37. ^ Gonçalves VF, Prosdocimi F, Santos LS, Ortega JM, Pena SD (2007). "Sex-biased gene flow in African Americans but not in American Caucasians". Genetics and Molecular Research. 6 (2): 256–61. PMID 17573655.
  38. ^ Josef Caruana et al. 2016, The Genetic Heritage of the Maltese Islands: A Matrilineal perspective

External linksEdit

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