S. Cardoso and M.A. Alfonso-Sánchez have contributed equally to this work.
The maternal legacy of Basques in northern navarre: New insights into the mitochondrial DNA diversity of the Franco-Cantabrian area
Article first published online: 3 MAY 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Physical Anthropology
Volume 145, Issue 3, pages 480–488, July 2011
How to Cite
Cardoso, S., Alfonso-Sánchez, M. A., Valverde, L., Odriozola, A., Pérez-Miranda, A. M., Peña, J. A. and de Pancorbo, M. M. (2011), The maternal legacy of Basques in northern navarre: New insights into the mitochondrial DNA diversity of the Franco-Cantabrian area. Am. J. Phys. Anthropol., 145: 480–488. doi: 10.1002/ajpa.21532
- Issue published online: 14 JUN 2011
- Article first published online: 3 MAY 2011
- Manuscript Accepted: 28 FEB 2011
- Manuscript Received: 16 SEP 2010
- Consolidación de Grupos de Investigación del Gobierno Vasco. Grant Number: IT-424-07
- Servicios Generales de Investigación (SGIker) of the University of the Basque Country (UPV/EHU, MICINN, GV/EJ, ERDF, and FSE), Basque Government (Dpto. de Educación, Universidades e Investigación)
- human isolate;
- genetic diversity;
- local microdifferentiation
Autochthonous Basques are thought to be a trace from the human population contraction that occurred during the Last Glacial Maximum, based mainly on the salient frequencies and coalescence ages registered for haplogroups V, H1, and H3 of mitochondrial DNA in current Basque populations. However, variability of the maternal lineages still remains relatively unexplored in an important fraction of the Iberian Basque community. In this study, mitochondrial DNA diversity in Navarre (North Spain) was addressed for the first time. To that end, HVS-I and HVS-II sequences from 110 individuals were examined to identify the most relevant lineages, including analysis of coding region SNPs for the refinement of haplogroup assignment. We found a prominent frequency of subhaplogroup J1c (11.8%) in Navarre, coinciding with previous studies on Basques. Subhaplogroup H2a5, a putative autochthonous Basque lineage, was also observed in Navarre, pointing to a common origin of current Basque geographical groups. In contrast to other Basque subpopulations, comparative analyses at Iberian and European scales revealed a relevant frequency of subhaplogroup H3 (10.9%) and a frequency peak for U5b (15.5%) in Navarre. Furthermore, we observed low frequencies for maternal lineages HV0 and H1 in Navarre relative to other northern Iberian populations. All these findings might be indicative of intense genetic drift episodes generated by population fragmentation in the area of the Franco-Cantabrian refuge until recent times, which could have promoted genetic microdifferentiation between the different Basque subpopulations. Am J Phys Anthropol, 2011. © 2011 Wiley-Liss, Inc.