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

2021/03/10 by Javier Rodríguez Luis, Leire Palencia-Madrid, Vivian C. Mendoza +3 · 3 citations
Biochemistry, Genetics and Molecular Biology · Arts and Humanities · #Forensic and Genetic Research #Forensic Anthropology and Bioarchaeology Studies #Molecular Biology Techniques and Applications #Haplogroup #Population #Y chromosome #Bronze Age #Geography #Genetics #Haplotype #Biological dispersal #Demography #Biology #Allele #Archaeology #Gene #Sociology

paper · pdf · doi:10.1038/s41598-021-84915-1

published in Scientific Reports 11(1), 5607 (Nature Portfolio)

openalex publication_date 2021/03/10 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/23

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.

Citations

• New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia
• Ancient genomes link early farmers from Atapuerca in Spain to modern-day Basques
• The place of the Basques in the European Y-chromosome diversity landscape
• mtDNA Variation among Greenland Eskimos: The Edge of the Beringian Expansion
• Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau
• Y Chromosome STR Haplotypes and the Genetic Structure of U.S. Populations of African, European, and Hispanic Ancestry
• Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a
• Iran: Tricontinental Nexus for Y-Chromosome Driven Migration
• Y Chromosome and Mitochondrial DNA Characterization of Pasiegos, a Human Isolate from Cantabria (Spain)
• Genetic evidence for different male and female roles during cultural transitions in the British Isles
• A Y-Chromosome Signature of Hegemony in Gaelic Ireland
• New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree
• Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography
• Evidence of Pre-Roman Tribal Genetic Structure in Basques from Uniparentally Inherited Markers
• The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula
• The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades
• The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations
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• The genetic history of Ice Age Europe
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Cited by

• Haplogroup E-V68 [wikipedia]