Original Research Article
Mitochondrial DNA haplogroup diversity in Basques: A reassessment based on HVI and HVII polymorphisms
Article first published online: 2 JAN 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Human Biology
Volume 20, Issue 2, pages 154–164, March/April 2008
How to Cite
Alfonso-Sánchez, M. A., Cardoso, S., Martínez-Bouzas, C., Peña, J. A., Herrera, R. J., Castro, A., Fernández-Fernández, I. and De Pancorbo, M. M. (2008), Mitochondrial DNA haplogroup diversity in Basques: A reassessment based on HVI and HVII polymorphisms. Am. J. Hum. Biol., 20: 154–164. doi: 10.1002/ajhb.20706
- Issue published online: 13 FEB 2008
- Article first published online: 2 JAN 2008
- Manuscript Accepted: 9 MAY 2007
- Manuscript Revised: 4 MAY 2007
- Manuscript Received: 20 JUL 2006
- Universidad del País Vasco (UPV/EHU). Grant Numbers: Research Projects I/UPV 00076.125-14901/2002, GIU 05/51)
This study provides a more complete characterization of the mitochondrial genome variability of the Basques, including data on the hypervariable segment HVII of the D-loop region, which remains relatively unknown. To that end, genomic DNA from 55 healthy men living in the Arratia Valley (Biscay province) and the Goiherri region (Guipúzcoa province) was examined by direct sequencing. Three-generation pedigree charts were compiled to ensure the collection from autochthonous individuals. The most notable findings emerging from the analysis of haplogroup composition are: (i) lack of U8a mitochondrial lineage, a rare subhaplogroup recently identified in Basques and proposed as a Paleolithic marker, (ii) low frequency of haplogroup V, which conflicts with results of earlier analyses describing high frequencies in southwestern Europe, and (iii) high frequency of haplogroup J, especially subhaplogroups J1c1 and J2a. The frequency of haplogroup J does not coincide with previous mtDNA studies in present-day Basques, but is congruent with frequencies found in prehistoric and historic Basque populations. In explaining divergence in haplogroup composition between modern Basque samples, we hypothesized spatial heterogeneity promoted by population fragmentation due to extreme limitation of dispersal opportunities during the Pleistocene glaciations. Similarities between extinct and extant Basque populations as for the high frequency of lineage J, as well as the abundance of this haplogroup in northern Spain endorse a shift in the focus of attention of mtDNA analysts. A refined dissection of haplogroup J might provide more solid evidence about the process of postglacial recolonization of Europe, and thus about the shaping of the European gene pool. Am. J. Hum. Biol., 2008. © 2008 Wiley-Liss, Inc.