Characterization of the Iberian Y chromosome haplogroup R-DF27 in Northern Spain

The European paternal lineage R-DF27 has been proposed as a haplogroup of Iberian origin due to its maximum frequencies in the Iberian Peninsula. In this study, the distribution and structure of DF27 were characterized in 591 unrelated male individuals from four key populations of the north area of the Iberian Peninsula through the analysis of 12 Y-SNPs that define DF27 main sublineages. Additionally, Y-SNP allele frequencies were also gathered from the reference populations in the 1000 Genomes Project to compare and obtain a better landscape of the distribution of DF27. Our results reveal frequencies over 35% of DF27 haplogroup in the four North Iberian populations analyzed and high frequencies for its subhaplogroups. Considering the low frequency of DF27 and its sublineages in most populations outside of the Iberian Peninsula, this haplogroup seems to have geographical significance; thus, indicating a possible Iberian patrilineal origin of vestiges bearing this haplogroup. The dataset presented here contributes with new data to better understand the complex genetic variability of the Y chromosome in the Iberian Peninsula, that can be applied in Forensic Genetics.Funds were provided by the Basque Government (IT-424-07). PV received a PhD grant from the University of the Basque Country UPV/EHU. The authors are deeply indebted to the Basque Foundation of Science (BIOEF), the Spanish National DNA Bank Carlos III (BNADN), SGIker (UPV/EHU, MICINN, GV/EJ, ERDF and ESF) and to all the people who voluntarily participated in this study.Peer reviewe