Haplogroup L

Haplogroup L1 is a human mitochondrial DNA (mtDNA) haplogroup. It is most common in Central Africa and West Africa.

Haplogroup L1 is believed to have appeared approximately 110,000 to 170,000 years ago.[citation needed] Haplogroup L1 is a daughter of L1-6 and genetic marker changes are 3666, 7055, 7389, 13789, 14178 and 14560.

Although it is typically used to denote a group of lineages found within Africa, L1 is sometimes referred to as haplogroup L1-6. The latter is the macrohaplogroup that includes the majority of Africa-based clades and all haplogroups centered outside of the continent. Haplogroup L1-6 is the macrohaplogroup that includes subclades L1, L2, L4, L5, L6, and also L3, which gave rise to the two non-African haplogroups M and N. Haplogroup L1-6 and its only sibling haplogroup L0 are united by the matrilineal most recent common ancestor, (MRCA) of all living humans, Mitochondrial Eve. The existence of these two lineages, implies that Mitochondrial Eve had at least two daughters, one of whom is the maternal common ancestor of haplogroup L1-6 lineages.[citation needed]


Haplogroup L1 is found most commonly in Central Africa and West Africa. It reaches its highest frequency among the Mbenga Pygmies.

Haplogroup L1 has been observed among specimens at the island cemetery in KulubnartiSudan, which date from the Early Christian period (AD 550-800).[3]

An ancient Beaker culture individual at the Camino de las Yeseras in Spain (San Fernando de Henares, Madrid; [I4245 / RISE695] F) has also been found to carry the L1b1a mitochondrial haplogroup.[4]


This phylogenetic tree of haplogroup L1 subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[2] and subsequent published research.

  • Most Recent Common Ancestor (MRCA)
    • L1’2’3’4’5’6
      • L1
        • L1b
          • L1b1
            • L1b1a
              • L1b1a1’4
                • L1b1a1
                • L1b1a4
              • L1b1a2
                • L1b1a2a


  • L1b1a3
    • L1b1a3a
      • L1b1a3a1
              • L1b1a5
              • L1b1a6
              • L1b1b7
        • L1c
          • L1c1’2’4’6
            • L1c1
              • L1c1a
                • L1c1a1
                  • L1c1a1a
                    • L1c1a1a1
                      • L1c1a1a1a
                      • L1c1a1a1b
                        • L1c1a1a1b1
                    • L1c1a1a2
                  • L1c1a1b








Haplogroup L1b is most frequent in West Africa. It is carried by 17-20% of the Senegalese population, and is also common among Nigerian Igbo, Mauritanians, El Hierro, Gran Canarians, Akan people, Algerians, the Lemba, and Egyptians. Haplogroup L1b1a has an North West African migration. It is spread through out the Americas with African American and Hispanics in the Caribbean. This haplogroup L1b1a is also found in Europe in the European Population (Spain, France, Italy and Sardinia, Canary Islands etc..) The phylogeny of the 103 L1b mitogenomes is provided in Figure 2. The vast majority of the non-European lineages were sampled in North America (African-Americans and Hispanics; n = 40) and West-central Africa (n = 13), the latter being the most likely source for the majority of the L1b mtDNAs in America (Salas et al. 2005). Control-region data indicate that L1b haplotype diversity is highest in East Africa, but the values of nucleotide diversity and the average number of nucleotide differences are highest in Western Africa (Bight of Biafra) (Supplemental Table S5). Demographic movements from sub-Saharan Africa could have spread L1b to the North (∼1% and ∼5% in Northeast and Northwest Africa, respectively). 

Given the phylogeny, the frequency, and the diversity patterns observed in Africa for L1b, it is likely that this haplogroup arose in West Africa, from where it moved to other African and non-African locations. There is a subclade of L1b defined by the transition A16289G (Fig. 2) and named here L1b1a2a, which could have originated later in East Africa (represented by three divergent sequences from Ethiopia: GenBank accession numbers EU092952, EU092942, and EU092950). L1b1a2a could have moved from East Africa to the North downstream the Nile shores toward Egypt (represented by the complete genome EU092775). The immediate ancestral node, L1b1a2 (Fig. 2), is represented by a single mitogenome observed in Israel (the Bedouin sequence EU092672) (Behar et al. 2008). There are two representatives of L1b1a2a in Spain (one of them in Galicia; Northwest Spain), which could have arrived during the period of the Atlantic slave trade or the Arab invasion of the Iberian Peninsula. 

We have also identified a new subclade of L1b1a, here named L1b1a9, characterized by the transversion G185C and the transition T14040C (Fig. 2). In contrast to most of the L1b subclades, L1b1a9 has a clear North African and Mediterranean distribution. It perhaps originated in Northwest Africa (as represented by the Moroccan Jew sequence EU092667) and afterward moved to different European Mediterranean locations (mainly Iberia and Italy). Two L1b1a9 sequences were found in Iberia (Galicia and Catalonia), three in the Italian Peninsula, and one in France. 

Another new L1b1a subclade, called L1b1a8, most likely evolved exclusively within Europe. Two alternative phylogenies are possible (Supplemental Fig. S3) given the phylogenetic apparent homoplasmy observed in sequence #66. We favored the phylogeny given in Figure 2 by using the weighting scheme provided by Soares et al. (2009) on positional mutation rates. This clade is defined by the transition A7298G. Figure 2 shows five European members of the L1b1a8 clade—three Andalusians, one Galician (present study), and one Russian (Malyarchuk et al. 2008). The L1b1a8 status was investigated in the mtDNA coding region SNP data analyzed by us (M Cerezo, L Gusmão, V Černý, A Carracedo, P Schneider, A Salas, unpubl.). Here, 43 mtDNAs were found to belong to L1b1a from a total of 2426 profiles (∼1.7%) representing different African and African-American donors. These L1b1a sequences were observed in America (African-American, African-Caribbean, Colombia, and Argentina) and Africa (Angola, Ghana, Morocco, Nigeria, Sierra Leone, Ivory Coast, Togo, Tanzania, and Mozambique), but none of them carried the transition A7298G, thus further supporting a European origin of L1b1a8. 

Apart from L1b1a8, there are other minor new clades of L1b that might have originated in Europe. Members of haplogroup L1b1a11 were only found in North-central Europe (Ireland, Switzerland, and Slovenia), while L1b1a12 has representatives only in Iberia (Portugal and Catalonia). L1b1a6a is defined by a reversion at position 16093 (T to C, which is likely to be mutationally more stable than the common 16093 C-to-T transition), and it is present in two Portuguese, one Spaniard, and one individual from Wales. Finally, the immediate ancestor of L1b1a6a seems to have evolved in West-central Africa (as represented by two entire genomes from Burkina Faso and Guinea Bissau), and from there it could have spread into Europe through the Atlantic facade. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3337428/

From https://br.answers.yahoo.com/question/index?qid=20140826071158AAYDwBR

Haplogroup E-V38 is a human Y-chromosome DNA haplogroup. It is primarily distributed in Africa. E-V38 has two basal branches, E-M329 (formerly E1b1c) and E-M2 (formerly E1b1a). The E-M329 subclade is today almost exclusively found in Ethiopia. E-M2 is the predominant subclade in Western AfricaCentral AfricaSouthern Africa and the African Great Lakes, and occurs at moderate frequencies in North Africa and Middle East. E-M2 has several subclades, but many of these subhaplogroups are included in either E-L485 or E-U175.

The discovery of two SNPs (V38 and V100) by Trombetta et al. (2011) significantly redefined the E-V38 phylogenetic tree. This led the authors to suggest that E-V38 may have originated in East Africa. V38 joins the West African-affiliated E-M2 and the northern East African-affiliated E-M329 with an earlier common ancestor who, like E-P2, may have also originated in East Africa.[2] It is possible that soon after the evolution of E-V38, trans-Saharan migrants carried the E-V38 marker to North and Central Africa and/or West Africa where the more common E-M2 marker later arose and became prolific within the last 20,000-30,000 years.[1][3]

The downstreams SNP E-M180 possibly originated on the moist south-central Saharansavannah/grassland of northern West Africa during the early Holocene period. Much of the population that carried E-M2 retreated to southern West Africa with the drying of the Sahara. These later people migrated from Southeastern Nigeria and Cameroon ~8.0 kya to Central Africa, East Africa, and Southern Africa causing or following the Bantu expansion.[4][5][6] According to Wood et al. (2005) and Rosa et al. (2007), such population movements from West Africa changed the pre-existing population Y chromosomal diversity in Central, Southern and southern East Africa, replacing the previous haplogroups frequencies in these areas with the now dominant E1b1a1 lineages. Traces of earlier inhabitants, however, can be observed today in these regions via the presence of the Y DNA haplogroups A1a, A1b, A2, A3, and B-M60 that are common in certain populations, such as the Mbuti and Khoisan.[1][7][8]


This haplogroup’s frequency and diversity are highest in the West Africa region. Within Africa, E-V38 displays a west-to-east as well as a south-to-north clinal distribution. In other words, the frequency of the haplogroup decreases as one moves from western and southern Africa toward the eastern and northern parts of the continent.[9]

Incidence of E-V38
Population group frequency References
Bamileke 96%-100% [9][10]
Ewe 97% [7]
Ga 97% [7]
Yoruba 93.1% [11]
Tutsi 85% [9]
Fante 84% [7]
Mandinka 79%-87% [1][7]
Ovambo 82% [7]
Senegalese 81% [12]
Ganda 77% [7]
Bijagós 76% [1]
Balanta 73% [1]
Fula 73% [1]
Herero 71% [7]
Nalú 71% [1]

Populations on the North West Africa, central Eastern Africa and Madagascar have tested at more moderate frequencies.

Incidence of E-V38
Population group frequency References
Tuareg from Tânout, Niger 44.4% (8/18 subjects) [13]
Comorian Shirazi 41% [14]
Tuareg from Gorom-Gorom, Burkina Faso 16.6% (3/18) [13]
Tuareg from Gossi, Mali 9.1% (1/9) [13]
Cape Verdeans 15.9% (32/201) [15]
Maasai 15.4% (4/26) [7]
Luo 66% (6/9) [7]
Iraqw 11.11% (1/9) [7]
Comoros 23.46% (69/294) [16]
Merina people (also called Highlanders) 44% (4/9) [17]
Antandroy 69.6% (32/46) [17]
Antanosy 48.9% (23/47) [17]
Antaisaka 37.5% (3/8) [17]

E-V38 is found at low to moderate frequencies in North Africa, and northern East Africa. The some of the lineages found in these areas are possibly due to the Bantu expansion or other migrations.[9][18] The E-M2 marker that appeared in North African samples stem from the Ancient Indeginous Moors[9] However, the discovery in 2011 of the E-V38 marker that predates E-M2 has led Trombetta et al. to suggest that E-V38 may have originated in East Africa (please refer to the Origins section for the details).

Incidence of E-V38
Population group frequency References
Tuareg from Al Awaynat and Tahala, Libya 46.5% (20/43) [Note 1] [19]
OranAlgeria 8.6% (8/93) [20]
Berbers, southern and north-central Morocco 9.5% (6/63) [21][Note 2]
Moroccan Arabs 6.8% (3/44) [21]
Saharawis 3.5% (1/29) [21]
Egyptians 8.33% (3/36), 1.4% (2/147), and (0/73) [9][22][23]
Tunisians 1.4% (2/148) [23]
Sudanese 0.9% (4/445) [24]
Somalis 1.5% (3/201) [18]
Ethiopians 3.4% (3/88) [25]
Oromo 2.6% (2/78) [12]
Amhara 0% (0/48)[Note 3] [12]

Outside of Africa, E-V38 has been found at low frequencies. The clade has been found at low frequencies in West Asia. A few isolated occurrences of E-V38 have also been observed among populations in Southern Europe, such as CroatiaMaltaSpain and Portugal.[26] [27][28][29]

Incidence of E-V38 in Asia
Population group frequency References
Saudi Arabians 7.6% (12/157)


Omanis 6.6% (8/121) [9]
Emiratis 5.5% (9/164) [31]
Yemenis 4.8% (3/62) [31]
Majorcans 3.2% (2/62) [29]
Qataris 4.2% (3/72) [31]
Southern Iranians 1.7% (2/117) [32]
Iraqis 1.4% (2/139) [33]
Pakistanis 1.4% (9/638) [34]
Istanbul, Turkey 1.2% (1/81) [35]

The Trans-Atlantic slave trade brought people to North AmericaCentral America and South America including the Caribbean. Consequently, the haplogroup is often observed in the United States populations in men who self-identify as African Americans.[36] It has also been observed in a number of populations in Mexico, the CaribbeanCentral America, and South America among people of African descent.



The distinction between North Africa and Sub-Saharan Africa is historically and ecologically significant because of the effective barrier created by the Sahara Desert for much of modern history. The Sahara is the dominant feature of the North African landscape, and stretches across the southern part of the region. The Sahara serves as a geographical boundary between North Africa and sub-Saharan Africa and marks a transition zone from the largely Arab population of North Africa to black Africa of the south. 





Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears

Toomas Kivisild, Maere Reidla, […], and Richard Ville

Approximately 10 miles separate the Horn of Africa from the Arabian Peninsula at Bab-el-Mandeb (the Gate of Tears). Both historic and archaeological evidence indicate tight cultural connections, over millennia, between these two regions. High-resolution phylogenetic analysis of 270 Ethiopian and 115 Yemeni mitochondrial DNAs was performed in a worldwide context, to explore gene flow across the Red and Arabian Seas. Nine distinct subclades, including three newly defined ones, were found to characterize entirely the variation of Ethiopian and Yemeni L3 lineages. Both Ethiopians and Yemenis contain an almost-equal proportion of Eurasian-specific M and N and African-specific lineages and therefore cluster together in a multidimensional scaling plot between Near Eastern and sub-Saharan African populations. Phylogeographic identification of potential founder haplotypes revealed that approximately one-half of haplogroup L0–L5 lineages in Yemenis have close or matching counterparts in southeastern Africans, compared with a minor share in Ethiopians. Newly defined clade L6, the most frequent haplogroup in Yemenis, showed no close matches among 3,000 African samples.





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