Inferring past demography and genetic adaptation in Spain using the GCAT cohort

Abstract

Located in the southwestern corner of Europe, the Iberian Peninsula is separated from the rest of the continent by the Pyrenees Mountains and from Africa by the Strait of Gibraltar. This geographical position may have conditioned distinct selective pressures compared to the rest of Europe and influenced differential patterns of gene flow. In this work, we analyse 704 whole-genome sequences from the GCAT reference panel to quantify gene flow into Spain from various historical sources and identify the top signatures of positive (adaptive) selection. While we found no clear evidence of a 16th-century admixture event putatively related to the French diaspora during the Wars of Religion, we detected signals of North African admixture matching the Muslim period and the subsequent Christian Reconquista. Notably, besides finding that well-known candidate genes previously described in Eurasians also seem to be adaptive in Spain, we discovered novel top candidates for positive selection putatively associated with immunity and diet (UBL7, SMYD1, VAC14 and FDFT1). Finally, local ancestry deviation analysis revealed that the MHCIII genomic region underwent post-admixture selection following the post-Neolithic admixture with Steppe ancestry.