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

Patricia Villaescusa, María José Illescas, Laura Valverde, Miriam Baeta, Carolina Nuñez, Begoña Martínez-Jarreta, Maria Teresa Zarrabeitia, Francesc Calafell, Marian M. de Pancorbo'Correspondence information about the author Marian M. de PancorboEmail the author Marian M. de Pancorbo
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•A detailed dissection of R-DF27 paternal lineage is performed for the first time.
•DF27 haplogroup seems to have a geographical significance in the Iberian Peninsula.
•The TMRCAs suggest DF27 is a young lineage that arose 4176 ± 696 years ago.
•DF27 could be used to trace Iberian male migrations into the Americas.
•DF27 could be used to trace the biogeographic paternal origin of a forensic evidence.
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.