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. 2012 May;22(5):821-6.
doi: 10.1101/gr.134452.111. Epub 2012 Mar 27.

Reconstructing Ancient Mitochondrial DNA Links Between Africa and Europe

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Free PMC article

Reconstructing Ancient Mitochondrial DNA Links Between Africa and Europe

María Cerezo et al. Genome Res. .
Free PMC article

Abstract

Mitochondrial DNA (mtDNA) lineages of macro-haplogroup L (excluding the derived L3 branches M and N) represent the majority of the typical sub-Saharan mtDNA variability. In Europe, these mtDNAs account for <1% of the total but, when analyzed at the level of control region, they show no signals of having evolved within the European continent, an observation that is compatible with a recent arrival from the African continent. To further evaluate this issue, we analyzed 69 mitochondrial genomes belonging to various L sublineages from a wide range of European populations. Phylogeographic analyses showed that ~65% of the European L lineages most likely arrived in rather recent historical times, including the Romanization period, the Arab conquest of the Iberian Peninsula and Sicily, and during the period of the Atlantic slave trade. However, the remaining 35% of L mtDNAs form European-specific subclades, revealing that there was gene flow from sub-Saharan Africa toward Europe as early as 11,000 yr ago.

Figures

Figure 1.
Figure 1.
Spatial haplogroup distribution of sub-Saharan African lineages in Europe based on control-region data. (A) Macro-haplogroup L; (B) haplogroup L1b. Green crosses in A indicate the sampled regions (see also Supplemental Data S1).
Figure 2.
Figure 2.
Maximum parsimony tree of L1b mtDNA genomes. The mutations are displayed along the branches; numbering is according to the revised Cambridge Reference Sequence (Andrews et al. 1999); uppercase letters (A, C, G, T) indicate transitions, whereas lowercase letters refer to transversions. (+) Insertions; (d) deletions. An additional suffix “!” indicates a back mutation. Population codes are indicated in the legend within the figure. Branches shaded in gray indicate subclades that are reported for the first time in the present study.
Figure 3.
Figure 3.
The pie charts on the left indicate the frequency distribution of African haplogroups in Europe; the color circles within the map indicate the distribution of entire genomes in Europe clustered in main haplogroups. The pie charts on the right show the admixture components of L-European lineages in Africa.
Figure 4.
Figure 4.
(A) 3D principal component analysis performed on samples analyzed in the present study (L-European carriers), Africans (n = 102; CEPH panel), East Asians (n = 229; CEPH panel), and South Europeans (n = 160; data set from Spain and Italy taken from SNPforID (Sánchez et al. 2006; Phillips et al. 2007), all genotyped for a panel of 34 AIMs. The genotyping data were compiled using SPSmart (Amigo et al. 2008). (B) Structure bar plot indicating ancestral components of L-European mtDNA carriers based on profiles derived from a set of 34 AIMs.
Figure 5.
Figure 5.
Diagram showing the coalescence ages of L-European lineages and their 95% C.I. (see also Supplemental Table S2) and the estimated frequencies in Europe over the total number of existing L mitochondrial genomes from Europe.

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