Basque Origins and Genetic Structure

Abstract

Abstract The Basques are unique populations of Spain and France who speak a non-Indo-European language. Their geographic location and genetic uniqueness have been explained by three conflicting hypotheses: (1) Basques share common ancestry with populations of the Caucasus, from where they originated; (2) they are descendants of ancient Iberians who migrated from North Africa 4,000–8,000 years ago; (3) Basques are a remnant population and descendants of Paleolithic Europeans. These hypotheses were tested using DNA extracted from buccal swabs from 35 villages and 652 participants. The DNA was tested for markers: mtDNA, NRY, and autosomal short tandem repeats. The results show that the Basques are a European ethnic group that has experienced genetic drift and gene flow. No significant genetic heterogeneity was observed, when a locus-by-locus AMOVA was applied to HVS-1 DNA sequences, suggesting that the Basque expansion occurred in the Paleolithic, and there was not a complete demic diffusion during the Neolithic transition.