The maternal legacy of Basques in northern navarre

New insights into the mitochondrial DNA diversity of the Franco‐Cantabrian area

Bibliographic Data

ID8321014
AuthorsSergio Cardoso (0000-0003-3433-9937, University of the Basque Country), Miguel A Alfonso‐sánchez (0000-0002-1261-2624, University of the Basque Country), Laura Valverde (0000-0003-1849-5104, University of the Basque Country), Adrian Odriozola (University of the Basque Country), Ana M Perez‐miranda (University of the Basque Country), José A Peña (0000-0002-2952-8461, University of the Basque Country), Marian M De Pancorbo (0000-0002-8081-0702, University of the Basque Country, corresponding author)
Year2011
Volume145
Issue3
Pages480-488
Publication date2011-07-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueAmerican Journal of Physical Anthropology (JOURNAL)
Journal identifiersISSN: 0002-9483 • E-ISSN: 1096-8644
PublisherWiley (PUBLISHER • GB)
DOI10.1002/ajpa.21532
PMID21541934
OpenAlexW2093781834
LanguageEN
Citations received6
References cited40

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

Biology · Evolutionary biology · Gene · Genetic diversity · Genotype · Geography · Haplogroup · Haplotype · Mitochondrial DNA · Population · Zoology · Demography · Forensic and Genetic Research · Forensic Anthropology and Bioarchaeology Studies · Genetics · Molecular Biology Techniques and Applications

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