The Y chromosome of autochthonous Basque populations and the Bronze Age replacement

Javier Rodriguez Luis,Rene J Herrera,Marian M De Pancorbo,Vivian C Mendoza,Ralph Garcia-Bertrand,Leire Palencia-Madrid

doi:10.1038/s41598-021-84915-1

Javier Rodriguez Luis, Rene J Herrera + Show 4 more

Open Access

https://doi.org/10.1038/s41598-021-84915-1

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Abstract

Here we report on the Y haplogroup and Y-STR diversity of the three autochthonous Basque populations of Alava (n = 54), Guipuzcoa (n = 30) and Vizcaya (n = 61). The same samples genotyped for Y-chromosome SNPs were typed for 17 Y-STR loci (DYS19, DYS385a/b, DYS398I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA H4) using the AmpFlSTR Yfiler system. Six major haplogroups (R, I, E, J, G, and DE) were detected, being R-S116 (P312) haplogroup the most abundant at 75.0% in Alava, 86.7% in Guipuzcoa and 87.3% in Vizcaya. Age estimates for the R-S116 mutation in the Basque Country are 3975 ± 303, 3680 ± 345 and 4553 ± 285 years for Alava, Guipuzcoa and Vizcaya, respectively. Pairwise Rst genetic distances demonstrated close Y-chromosome affinities among the three autochthonous Basque populations and between them and the male population of Ireland and Gascony. In a MDS plot, the population of Ireland segregates within the Basque cluster and closest to the population of Guipuzcoa, which plots closer to Ireland than to any of the other Basque populations. Overall, the results support the notion that during the Bronze Age a dispersal of individuals carrying the R-S116 mutation reached the Basque Country replacing the Paleolithic/Neolithic Y chromosome of the region.

Highlights

We report on the Y haplogroup and Y-STR diversity of the three autochthonous Basque populations of Alava (n = 54), Guipuzcoa (n = 30) and Vizcaya (n = 61)
All samples were procured from donors voluntarily while closely adhering to the ethical guidelines stipulated by Colorado College, Colorado Springs, Colorado USA and the University of the Basque Country, UPV/EHU, Vitoria-Gasteiz, Spain
Since not all Y-STR loci genotyped for the Basque populations in the present study were previously genotyped in the Irish population, not all the corresponding markers are available in the Irish modal haplotype

Summary

Introduction

The study describes the Basques as an Iron Age population genetically impacted by migrations from the Pontic-Caspian STEPPES. These population movements into Iberia likely correlated with the introduction of the Urnfield tradition and Indo-European languages to the region[38]. The replacement of Copper Age Western European Y chromosomes made up mainly of haplogroups I2, G2, and H by R1b Bronze Age chromosomes was more dramatic in Iberia This sex-specific replacement suggests a higher contribution of incoming males than females, which is supported by a lower X-chromosome input from the STEPPES. The population-dynamic mechanisms that generated such a sex-specific replacement are unknown

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Conclusion