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.