![]() Many controversies surround the origins and the population history of Basques, which partial or limited population sampling has certainly not helped to settle. Despite controversial studies, a large expansion is thought to have originated in the same area around 12,000 years ago (ya), in the Late Glacial when the climatic conditions started to improve in Europe. The large number of archeological sites from different periods, as well as different genetic studies with present-day and ancient samples, showed that this region acted as one of the most densely populated European glacial refugia during the Last Glacial Maximum. ![]() They have historically settled the Western Pyrenees, in the Franco-Cantabrian region, between Spain and France. Their language, Basque or Euskara, is not Indo-European, and it is not related to any other extinct or extant language. We also found extreme differentiation for the C/c variant when comparing sub-Saharan to non-sub-Saharan populations.īasques have been the subject of many studies during the last decades due not only to cultural but also to biological characteristics that place them as an isolated and unique population within Europe. Haplotype analyses of D/d, E/e, and C/c variants confirmed an association between the RhC allele, previously suggested to be under positive selection, and the RhD positive variant in non-sub-Saharan populations, including Basques. Our results are in agreement with previous studies, with Basques presenting the highest frequency of the RHD deletion (47.2%). ![]() In particular, we genotyped the most relevant variants of the system (D/d, E/e, and C/c), and sequenced three ~6 kb flanking regions surrounding the Rh genes in Basques and also in other populations for comparison. While previous studies on the Rh system in Basques have been mostly focused on serological and genotyping diversity, in this work we analyze genotyping and next generation sequencing data in order to provide a general framework of the genetic scenario of the system in Basques. Both demographic and adaptive processes have been suggested as possible causes of the high frequency of RhD negative in Basques, but neither hypothesis has been clearly demonstrated. The most striking genetic characteristic is their highest frequency of the RhD blood group negative allele, a variant related to the hemolytic disease of the newborn. They have historically lived along the Western Pyrenees, between Spain and France, in one of the most important European glacial refugia during the Last Glacial Maximum. Basques show specific cultural, demographic, and genetic characteristics that have placed them as an isolated and unique population within Europe, such as their non-Indo-European language, Euskara.
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