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/
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 Africa, Central Africa, Southern 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.
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.