The Expanded mtDNA Phylogeny of the Franco-Cantabrian Region Upholds the Pre-Neolithic Genetic Subst
The Expanded mtDNA Phylogeny of the Franco-Cantabrian Region Upholds the Pre-Neolithic Genetic Substrate of Basques
https://journals.plos.org/plosone/ar...e.0067835.g001
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Figure 1. Maximum parsimony trees of haplogroups U5b, J1c and V including the three autochthonous lineages U5b1f, J1c5c1 and V22.
These trees are extracted from the maximum parsimony phylogenetic tree of 76 complete mtDNA sequences of the Franco-Cantabrian region shown in detail in Fig. S1. Mutations are displayed along the branches. All mutations are transitions unless a suffix specifies a transversion (A, C, G, T). Recurrent mutations within the complete phylogeny of the Franco-Cantabrian area are underlined. The prefix ‘‘@’’ indicates a back mutation. Mutational hotspot variants such as 16182, 16183, or 16519, or a variation around position 310 or 523–524, as well as length heteroplasmies were not considered for the phylogenetic reconstruction. All the samples are colored according to their geographic origin, as shown in the legend. For phylogeny construction, five previously published mitogenomes belonging to subhaplogroups U5b1f (JX286537 and DQ156208), J1c5c1 (JQ702776 and JQ704051) and V22 (HQ384212) were included (GenBank accession numbers in the tree). German ethnicity was declared for sample JX286537 in GenBank; however, maternal ancestry in southwestern Europe cannot be ruled out owing to the absence of lineage U51bf in populations outside the Franco Cantabrian area (see Tables S2 and S3). French B.C. refers to samples from the French Basque Country.
https://doi.org/10.1371/journal.pone.0067835.g001
The most notable finding emerging from the mtDNA phylogeny was the existence of three haplogroups, namely U5b1f, J1c5c1 and V22, which seem to be representative of the Franco-Cantabrian region (Fig. 1). Haplogroups J1c5c1 and V22 are designated herein for the first time, whereas partial motif of haplogroup U5b1f had been previously reported [33]. These lineages belong to haplogroups U5b, J1c and V, which have probably played an important role in the postglacial re-expansion and resettlement processes of Europe [7], [10], [11]. We explored the specificity of these lineages to the Franco-Cantabrian area by consulting available data on complete mtDNA genomes (more than 7,500 genomes of European ancestry). These haplogroups were not found in any of the populations consulted, with the exception of all the Basque collections included in the compilation and some other geographically contiguous non-Basque populations. For that reason, haplogroups U5b1f, J1c5c1 and V22 are proposed to be autochthonous lineages to Franco-Cantabrian human groups, and especially to native Basques.
https://journals.plos.org/plosone/ar...l.pone.0067835
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