Genetics and the History of the Basque People


The biological research on the origins of the Basque people was strongly motivated by the singularity of their language. Early investigations based on comparative craniometrics go back to the nineteenth century. These suggested the idea of a local evolution for the Basques. However, this approach soon proved to be unreliable. In the mid‐twentieth century, classical markers seemed to confirm that Basques were descendants of local Mesolithic Europeans who had avoided the impact of Near East Neolithic farmers better than other European populations. Deoxyribonucleic acid (DNA) typing and recent genome‐wide studies have allowed a more realistic reconstruction of the evolutionary history of populations. Further implications emerge from the genetic analysis of human remains from ancient archaeological sites. Several lines of evidence indicate that at least some Basque DNA lineages have evolved in situ, probably since pre‐Neolithic times. However, the place of the Basques in the European diversity landscape is still far from being completely elucidated.

Key Concepts:

  • Since mid‐twentieth century it has been speculated that Basques were descendants of local Mesolithic Europeans who had avoided the impact of Near East Neolithic farmers.

  • Traits under the influence of the environment are not reliable approaches to infer the evolutionary origins of populations. These include craniometrics and blood groups.

  • At least some Basque DNA lineages might have evolved in situ, probably since pre‐Neolithic times.

  • Evolutionary inferences made from modern DNA make substantial simplifications of human demographic history. Ancient DNA analysis can provide a clearer picture of our past and can enhance our chances to reconstruct our history.

  • The singularity of the Basques in the European diversity landscape is still controversial. Genetic heterogeneity within Basques is a possible confounder.

Keywords: basques; evolution; anthropology; origins; human genetic diversity; evolutionary history; classical markers; ancient DNA; mitochondrial DNA (mtDNA); haplogroup V; genome‐wide studies; genetic heterogeneity

Figure 1.

Archaeological sites analysed in the Basque Country and Navarre.



Aguirre A, Vicario A, Mazon LI et al. (1991) Are the Basques a single and a unique population? American Journal of Human Genetics 49: 450–458.

Alonso S and Armour JA (1998) MS205 minisatellite diversity in Basques: evidence for a pre‐Neolithic component. Genome Research 8: 1289–1298.

Alonso S, Flores C, Cabrera V et al. (2005) The place of the Basques in the European Y‐chromosome diversity landscape. European Journal of Human Genetics 13: 1293–1302.

Alzualde A, Izagirre N, Alonso S, Alonso A and de la Rúa C (2005) Temporal mitochondrial DNA variation in the Basque Country: influence of post‐Neolithic events. Annals of Human Genetics 69: 665–679.

Alzualde A, Izagirre N, Alonso S et al. (2006) Insights into the ‘isolation’ of the Basques: mtDNA lineages from the historical site of Aldaieta (6th–7th centuries AD). American Journal of Physical Anthropology 130: 394–404.

Ammerman AJ and Cavalli‐Sforza LL (1984) The Neolithic Transitions and The Genetics of Populations in Europe. Princeton, NJ: Priceton University Press.

Arnaiz‐Villena A, Benmamar D, Alvarez M et al. (1995) HLA allele and haplotype frequencies in Algerians. Relatedness to Spaniards and Basques. Human Immunology 43: 259–268.

Arrizabalaga A and Rios‐Garaizar J (2012) The first human occupation of the Basque Crossroads. Journal of World Prehistory. DOI 10.1007/s10963‐012‐9058‐x.

Azkárate A (2004) Reihengräberfelder al sur de los pirineos occidentales? In: Blazquez JM and González A (eds) Sacralidad y arqueología: homenaje al professor Thilo Ulbert (Antigüedad y cristianismo, 21), pp. 349–413. Murcia: University of Murcia.

Baraybar JP and de la Rúa C (1997) Reconstruction of diet with trace elements of bone at the Chalcolithic site of Pico Ramos, Basque Country, Spain. Journal of Archaeological Science 24: 355–364.

Barbujani G (2000) Geographic patterns: how to identify them and why. Human Biology 72: 133–153.

Behar DM, Harmant C, Manry J et al. (2012) The Basque paradigm: genetic evidence of a maternal continuity in the Franco–Cantabrian region since pre‐Neolithic times. American Journal of Human Genetics 90: 486–493.

Bertranpetit J and Cavalli‐Sforza LL (1991) A genetic reconstruction of the history of the population of the Iberian Peninsula. Annals of Human Genetics 55: 51–67.

Bertranpetit J, Sala J, Calafell F et al. (1995) Human mitochondrial DNA variation and the origin of Basques. Annals of Human Genetics 59: 63–81.

Calafell F and Bertranpetit J (1994) Principal component analysis of gene frequencies and the origin of Basques. American Journal of Physical Anthropology 93: 201–215.

Calderon R, Vidales C, Pena JA, Perez‐Miranda A and Dugoujon JM (1998) Immunoglobulin allotypes (GM and KM) in Basques from Spain: approach to the origin of the Basque population. Human Biology 70: 667–698.

Cavalli‐Sforza LL (1988) The Basque population and ancient migrations in Europe. Munibe (Antropología‐Arqueología) 6(Suppl): 129–137.

Chikhi L, Destro‐Bisol G, Bertorelle G, Pascali V and Burbujani G (1998) Clines of nuclear DNA markers suggest a largely Neolithic ancestry of the European gene pool. Proceedings of the National Academy of Sciences of the USA 95: 9053–9058.

Comas D, Calafell F, Mateu E et al. (1997) Mitochondrial DNA variation and the origin of the Europeans. Human Genetics 99: 443–449.

Comas D, Mateu E, Calafell F et al. (1998) HLA class I and class II DNA typing and the origin of Basques. Tissue Antigens 51: 30–40.

Côrte‐Real HB, Macaulay VA, Richards MB et al. (1996) Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis. Annals of Human Genetics 60: 331–350.

Etcheverry MA (1945) El factor Rhesus, su genética e importancia clinica. Día Médico 17: 1237–1251.

François O, Currat M, Ray N et al. (2010) Principal component analysis under population genetic models of range expansion and admixture. Molecular Biology and Evolution 27: 1257–1268.

García O, Fregel R, Larruga JM et al. (2011) Using mitochondrial DNA to test the hypothesis of a European post‐glacial human recolonization from the Franco‐Cantabrian refuge. Heredity 106: 37–45.

González AM, García O, Larruga JM and Cabrera VM (2006) The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque Country. BMC Genomics 7: 124.

Green RE, Krause J, Briggs AW et al. (2010) A draft sequence of the Neandertal genome. Science 328: 710–722.

Hervella M, Izagirre N, Alonso S et al. (2012) Ancient DNA from hunter‐gatherer and farmer groups from Northern Spain supports a random dispersion model for the Neolithic expansion into Europe. PLoS One 7: e34417.

Iriondo M, Barbero MC and Manzano C (2003) DNA polymorphisms detect ancient barriers to gene flow in Basques. American Journal of Physical Anthropology 122: 73–84.

Izagirre N, Alzualde A, Alonso S et al. (2005) Rare haplotypes in mtDNA: applications in the analysis of biosocial aspects of past human populations. Human Biology 77: 443–456.

Izagirre N and de la Rúa C (1999) An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major Palaeolithic expansion from South Western Europe. American Journal of Human Genetics 65: 199–207.

Laayouni H, Calafell F and Bertranpetit J (2010) A genome‐wide survey does not show the genetic distinctiveness of Basques. Human Genetics 127: 455–458.

Li JZ, Absher DM, Tang H et al. (2008) Worldwide human relationships inferred from genome‐wide patterns of variation. Science 319: 1100–1104.

Manzano C, Orue JM and de la Rua C (1996) The ‘Basqueness’ of the Basques of Alava: a reappraisal from a multidisciplinary perspective. American Journal of Physical Anthropology 99: 249–258.

Martínez‐Cruz B, Harmant C, Platt DE et al. (2012) Evidence of pre‐roman tribal genetic structure in basques from uniparentally inherited markers. Molecular Biology and Evolution 29: 2211–2222.

Mellars PA (1998) The Upper Palaeolithic revolution. In: Cunliffe B (ed.) Prehistoric Europe: An Illustrated History, pp. 42–78. Oxford: Oxford University Press.

Mourant AE (1947) The blood groups of the Basques. Nature 160: 505–506.

November J and Stephens M (2008) Interpreting principal component analyses of spatial population genetic variation. Nature Genetics 40: 646–649.

Richards M, Corte‐Real H, Forster P et al. (1996) Paleolithic and neolithic lineages in the European mitochondrial gene pool. American Journal of Human Genetics 59: 185–203. Erratum in: 1996 American Journal of Human Genetics 5(3): 747.

Rodríguez‐Ezpeleta N, Alvarez‐Busto J, Imaz L et al. (2010) High‐density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations. Human Genetics 128: 113–117.

de la Rúa C (1990) Los estudios de paleoantropología en el País Vasco. Munibe (Antropología‐Arqueología) 42: 199–219.

de la Rúa C (1995) La historia del poblamiento del País Vasco desde una perspectiva antropológica. In: Bertranpetit J and Vives E (eds) Muntanyes i Població. El passat dels Pirineus des d'una Perspectiva Multidisciplinária, pp. 301–316. Andorra la Vella: Centre de Trobada de les cultures Pirenaiques.

Sajantila A, Lahermo P, Anttinen T et al. (1995) Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Research 5: 42–52.

Semino O, Passarino G, Oefner PJ et al. (2000) The genetic legacy of Paleolithic Homo sapiens in extant Europeans: a Y chromosome perspective. Science 290: 1155–1159.

Sokal RR, Oden NL and Thomson BA (1999) A problem with synthetic maps. Human Biology 71: 1–13.

Stringer CB and Andrews O (1988) Genetic and fossil evidence for the origin of modern humans. Science 239: 1236–1268.

Torroni A, Bandelt HJ, D'Urbano L et al. (1998) mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. American Journal of Human Genetics 62: 1137–1152.

Torroni A, Bandelt HJ, Macaulay V et al. (2001) A signal, from human mtDNA, of postglacial recolonization in Europe. American Journal of Human Genetics 69: 844–852.

Wilson JF, Weiss DA, Richards M et al. (2001) Genetic evidence for different male and female roles during cultural transitions in the British Isles. Proceedings of the National Academy of Sciences of the USA 98: 5078–5083.

Further Reading

Bustamante D and Royal C (2013) Detecting ancestry from genome‐wide data. Annual Review of Genomics and Human Genetics 14: (In press).

Cavalli‐Sforza LL, Menozzi P and Piazza A (1994) The History And Geography Of Human Genes. Princeton, NJ: Princeton University Press.

Jobling MA, Hurles ME and Tyler‐Smith C (2004) Human Evolutionary Genetics. Origins, People and Diseases. Abingdon, UK: Garland Publishing.

Lawson DJ and Falush D (2012) Population identification using genetic data. Annual Review of Genomics and Human Genetics 13: 337–361.

Pinhasi R, Thomas MG, Hofreiter M, Mathias Currat M and Burger J (2012) The genetic history of Europeans. Trend in Genetics 28: 496–505.

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López, Saioa, and Alonso, Santos(Mar 2013) Genetics and the History of the Basque People. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0020803.pub2]