In search of the Pre‐ and Post‐Neolithic Genetic Substrates in Iberia: Evidence from Y‐Chromosome in Pyrenean Populations

Abstract

SummaryThe male-mediated genetic legacy of the Pyrenean population was assessed through the analysis of 12 Y-STR and 27 Y-SNP loci in a sample of 169 males from 5 main geographical areas in the Spanish Pyrenees: Cinco Villas (Western Pyrenees), Jacetania and Valle de Arán (Central Pyrenees) and Alto Urgel and Cerdaña (Eastern Pyrenees). In the Iberian context, the Pyrenean samples present some specificities, being characterizeded by a high proportion of chromosomes R1b1b2-M269 (including the usually uncommon R1b1b2d-SRY 2627 and R1b1b2c-M153 types) or I2a2-M26 and low proportions of other haplogroups. Our results indicate that an old pre-Neolithic substrate is preponderant in populations of the whole Pyrenean fringe. However, AMOVA revealed a high level of substructure within Pyrenean populations, partially explained by drift effects as well as by the signature of an ancient genetic differentiation between Western and Eastern Pyrenees.

Paternal Genetic History of the Basque Population of Spain

“…2004). This European-specific haplogroup is believed to have originated in the Pyrenees before the LGM (Karafet et al 2008;Lopez-Parra et al 2009;Novelletto 2007;Rootsi et al 2004). Several Y haplogroups with TMRCA estimates dated after the advent of agriculture were also detected in the present study: E1b1b, G2a, and J2a (Table 6).…”

Discovery of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes Project Data: An Online Community Approach

“…In Iberia, previous data suggests evidence of gene flow between Basques and Catalan speaking populations based on the distribution of M167 (SRY2627) [14], [15], [16]. Our placement of M153, a marker that has been linked to Basque populations [17], and SRY2627 as downstream variants of DF27 further illustrates this close relationship.…”

Dissection of the DF27 paternal lineage

“…Compared to previous studies the frequencies of M153 and M167 sublineages of S356 are lower than in other Pyrenean populations [9].…”