European Journal of Human Genetics (2017) 25, 631–636; doi:10.1038/ejhg.2017.24; published online 8 March 2017

Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian Peninsula

Leire Palencia-Madrid1, Sergio Cardoso1, Christine Keyser2, Juan Carlos López-Quintana3, Amagoia Guenaga-Lizasu3 and Marian M de Pancorbo1

  1. 1BIOMICs Research Group, Lascaray Research Center, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Spain
  2. 2Laboratoire AMIS, CNRS, UMR 5288, Institut de Médecine Légale, Université de Strasbourg, Strasbourg, France
  3. 3AGIRI Arkeologia Kultura Elkartea, Gernika-Lumo, Spain

Correspondence: Professor MM de Pancorbo, BIOMICs Research Group, Lascaray Research Center, University of the Basque Country (UPV/EHU), Avenida Miguel de Unamuno 3, 01006 Vitoria-Gasteiz, Spain. Tel: +34 945 01 4528; Fax: +34 945 01 4458; E-mail:

Received 13 September 2016; Revised 23 January 2017; Accepted 1 February 2017
Advance online publication 8 March 2017



The Basque population inhabits the Franco-Cantabrian region in southwest Europe where Palaeolithic human groups took refuge during the Last Glacial Maximum. Basques have been an isolated population, largely considered as one of the most ancient European populations and it is possible that they maintained some pre-Neolithic genetic characteristics. This work shows the results of mitochondrial DNA analysis of seven ancient human remains from the Cave of Santimamiñe in the Basque Country dated from Mesolithic to the Late Roman period. In addition, we compared these data with those obtained from a modern sample of Basque population, 158 individuals that nowadays inhabits next to the cave. The results support the hypothesis that Iberians might have been less affected by the Neolithic mitochondrial lineages carried from the Near East than populations of Central Europe and revealed the unexpected presence of prehistoric maternal lineages such as U5a2a and U3a in the Basque region. Comparison between ancient and current population samples upholds the hypothesis of continuity of the maternal lineages in the area of the Franco-Cantabrian region.