Evidence of Pre-Roman Tribal Genetic Structure in Basques from Uniparentally Inherited Markers

Abstract

Basque people have received considerable attention from anthropologists, geneticists, and linguists during the last century due to the singularity of their language and to other cultural and biological characteristics. Despite the multidisciplinary efforts performed to address the questions of the origin, uniqueness, and heterogeneity of Basques, the genetic studies performed up to now have suffered from a weak study design where populations are not analyzed in an adequate geographic and population context. To address the former questions and to overcome these design limitations, we have analyzed the uniparentally inherited markers (Y chromosome and mitochondrial DNA) of ~900 individuals from 18 populations, including those where Basque is currently spoken and populations from adjacent regions where Basque might have been spoken in historical times. Our results indicate that Basque-speaking populations fall within the genetic Western European gene pool, that they are similar to geographically surrounding non-Basque populations, and also that their genetic uniqueness is based on a lower amount of external influences compared with other Iberians and French populations. Our data suggest that the genetic heterogeneity and structure observed in the Basque region result from pre-Roman tribal structure related to geography and might be linked to the increased complexity of emerging societies during the Bronze Age. The rough overlap of the pre-Roman tribe location and the current dialect limits support the notion that the environmental diversity in the region has played a recurrent role in cultural differentiation and ethnogenesis at different time periods.

Origins, admixture and founder lineages in European Roma

“…A group of 121 SNPs were typed as in Martinez-Cruz et al, 32 six SNPs were genotyped in a single multiplex (Multiplex-2), 33 and four SNPs were typed with individual TaqMan assays (L48, M458, L2, and L20). Nomenclature of the haplogroups is in accordance with the Y-Chromosome Consortium.…”

“…Nomenclature of the haplogroups is in accordance with the Y-Chromosome Consortium. 34 All individuals were typed for a set of 19 STRs: 17 using the Yfiler kit (Applied Biosystems, Foster City, CA, USA) and two STRs included in Multiplex-2 (Martinez-Cruz et al 33 and Supplementary Table S2). Some individuals from previous studies using lower number of markers 17,22 were genotyped to the same resolution level.…”

“…Mitochondrial haplogroup H was subtyped with a specific multiplex. 33 Based on HVS and coding SNP data, individuals were assigned to mtDNA haplogroups using Haplogrep 36 and the PhyloTree build 15. 37 Owing to their phylogenetic uncertainty, indels at nucleotide positions 309, 315, and 16 193 were not taken into account.…”

Across language families: Genome diversity mirrors linguistic variation withinEurope

“…The exception to the results of the present study is thus nicely justified in this scenario, suggesting that when a Finno‐Ugric language was introduced in Hungary, the genetic buildup of the population changed only in part, thus retaining similarities with its geographic neighbors, an example of the process called élite dominance by Renfrew (1992). On the contrary, the same case cannot be easily made for Basques (Alonso et al, 2005; Rodríguez‐Ezpeleta et al, 2010; Young et al, 2011; Martinez‐Cruz et al, 2012) or Finns, for whom, to the best of our knowledge, no available evidence suggests a similar model of partial demographic replacement associated with language replacement (Nelis et al, 2009). Thus, the comparative linguistic/genomic analysis, attempted in the present study, seems able to single out and precisely assess these differences in the population histories of the three non‐IE members of our sample.…”

Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements

“…The studied populations and their linguistic background are summarised in Table 1 A-M91, BT-M139, B-M60, M-M186, O-M175 and R-M17. 13 As the Yfiler kit amplifies two DYS385 loci simultaneously avoiding their discrimination, DYS385 was excluded from all the analyses performed, providing a total of 17 Y-STRs (including DYS388 and DYS426) for inferences. Other Y-SNPs were genotyped individually with the use of pre-designed TaqMan assays with previously published primer sequences.…”