Population genetic landscape of basques

Resumen

Human population genetics is the field focused on the analysis of the genetic variation among human populations caused by the demographic processes. Together with other areas of knowledge such as history, linguistics and anthropology, they can provide insights into the roots of the origins, evolution and demographic history of human populations. The technological and analytical advances in genetics and genomics during the last decade have prompted the fast growth of the human population genetics. This increase of the studies in the field has been reflected in the large number of modern and ancient samples that are currently available. In Europe, the genetic analyses have proved a relative homogeneous scenario where the genetic distances among populations are explained by their geographic closeness. In this general context, different outlier populations stood out breaking the general genetic pattern of the continent. Due to their peculiarities, isolated populations have been the focus of many fields. Anthropologists have studied the specific cultural traits that usually come together with the isolation. In medicine, the focus has been the genetic screening for rare monogenetic and complex diseases. Population geneticists have focused on the study of the genetic structure and the processes of genome variation. Basques became an important object of attention. Several cultural and genetic traits pointed them as one of the most isolated and ancient population. A still lively debate emerged around Basque people’s genetics related to: a high frequency of Rh-negative, a genetic differentiation from the external populations, an internal heterogeneity and an unclear origin. In this thesis, the main genetic controversies of Basques are deep disentangled, by overcoming the limitations in the previous studies by improving the ethno-linguistic representation of the Basque population and surrounding groups, using recent technical, methodological and computational advances in order to give finer and more powerful conclusions. The main results show a high frequency of Rh-negative in agreement with previous studies, an internal genetic heterogeneity within Basques, together with a clear differentiation from the external populations, probably marked by a genetic continuity from the Bronze Age.