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. 2017 Aug 4;7(1):7341.
doi: 10.1038/s41598-017-07710-x.

Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ

Neus Solé-Morata  1 , Patricia Villaescusa  2 , Carla García-Fernández  1 , Neus Font-Porterias  1 , María José Illescas  2 , Laura Valverde  2 , Francesca Tassi  3 , Silvia Ghirotto  3 , Claude Férec  4   5   6   7 , Karen Rouault  4   5 , Susana Jiménez-Moreno  8 , Begoña Martínez-Jarreta  9 , Maria Fátima Pinheiro  10 , María T Zarrabeitia  11 , Ángel Carracedo  12   13 , Marian M de Pancorbo  2 , Francesc Calafell  14
Affiliations

Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ

Neus Solé-Morata et al. Sci Rep. .

Abstract

Haplogroup R1b-M269 comprises most Western European Y chromosomes; of its main branches, R1b-DF27 is by far the least known, and it appears to be highly prevalent only in Iberia. We have genotyped 1072 R1b-DF27 chromosomes for six additional SNPs and 17 Y-STRs in population samples from Spain, Portugal and France in order to further characterize this lineage and, in particular, to ascertain the time and place where it originated, as well as its subsequent dynamics. We found that R1b-DF27 is present in frequencies ~40% in Iberian populations and up to 70% in Basques, but it drops quickly to 6-20% in France. Overall, the age of R1b-DF27 is estimated at ~4,200 years ago, at the transition between the Neolithic and the Bronze Age, when the Y chromosome landscape of W Europe was thoroughly remodeled. In spite of its high frequency in Basques, Y-STR internal diversity of R1b-DF27 is lower there, and results in more recent age estimates; NE Iberia is the most likely place of origin of DF27. Subhaplogroup frequencies within R1b-DF27 are geographically structured, and show domains that are reminiscent of the pre-Roman Celtic/Iberian division, or of the medieval Christian kingdoms.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1
Simplified phylogenetic tree of the R1b-M269 haplogroup. SNPs in italics were not analyzed in this manuscript.
Figure 2
Figure 2
Contour maps of the derived allele frequencies of the SNPs analyzed in this manuscript. Population abbreviations as in Table 1. Maps were drawn with SURFER v. 12 (Golden Software, Golden CO, USA).
Figure 3
Figure 3
Principal component analysis of subhaplogroup frequencies. Population abbreviations as in Table 1. Circles: Iberian populations; squares: non-Iberian populations.
Figure 4
Figure 4
Principal component analysis of STR haplotypes. (a) Colored by subhaplogroup, (b) colored by population. Larger squares represent subhaplogroup or population centroids.
Figure 5
Figure 5
Cumulative distributions of the number of pairwise absolute differences in repeat size among individuals, by subhaplogroup.
See this image and copyright information in PMC

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