The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times

Behar, Doron M.; Harmant, Christine; Manry, Jérémy; Oven, Mannis van; Haak, Wolfgang; Martínez‐Cruz, Begoña; Salaberria, Jasone; Oyharçabal, Bernard; Bauduer, Frédéric; Comas, David; Quintana-Murci, Lluı́s

doi:10.1016/j.ajhg.2012.01.002

Cited by 59 publications

(54 citation statements)

References 46 publications

(96 reference statements)

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“…The two most frequent haplotypes belong to these subhaplogroups, which have been suggested as autochthonous lineages of the Franco-Cantabrian region. Subhaplogroup H1j1, which only presents the polymorphism 16129A in the control region, was described by Behar et al 15 as an autochthonous haplogroup of the Franco-Cantabrian region. 15,16 This haplotype has been found with a remarkable frequency among numerous populations of the North of the Iberian Peninsula, especially in the Basque area, or in populations of Basque ancestry.…”

Section: Phylogenetic Historymentioning

confidence: 99%

“…Subhaplogroup H1j1, which only presents the polymorphism 16129A in the control region, was described by Behar et al 15 as an autochthonous haplogroup of the Franco-Cantabrian region. 15,16 This haplotype has been found with a remarkable frequency among numerous populations of the North of the Iberian Peninsula, especially in the Basque area, or in populations of Basque ancestry. 15,35,41,42 In this population sample of Busturialdea 18 individuals (11.39%) were classified into H1j1 subhaplogroup by the analysis of the coding region polymorphism T4733C.…”

Section: Phylogenetic Historymentioning

confidence: 99%

“…It preserves autochthonous subhaplogroups rarely found out of this region, some of which have been described in the last years. 15,16,34,40 With the aim of studying the presence of the ancient mitochondrial lineages from past times in the present, the control region of mtDNA was analysed in a sample of 158 autochthonous Basque individuals belonging to the population inhabiting the vicinity of the Cave of Santimamiñe, the region of Busturialdea (Figure 1 Table S2) and descriptive statistics (Supplementary Table S3) of this population can be accessed in the Supplementary Material.…”

Section: Phylogenetic Historymentioning

confidence: 99%

“…13,14 These studies are grounded in the supposedly genetic continuity between the Palaeolithic huntergatherers and the autochthonous Basque population. 15,16 Herein we report a study on ancient maternal lineages of the Franco-Cantabrian region and their persistence in modern populations. It is based on the combination of ancient and modern mitochondrial DNA data.…”

Section: Introductionmentioning

confidence: 99%

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Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian Peninsula

et al. 2017

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The Basque population inhabits the Franco-Cantabrian region in southwest Europe where Palaeolithic human groups took refuge during the Last Glacial Maximum. Basques have been an isolated population, largely considered as one of the most ancient European populations and it is possible that they maintained some pre-Neolithic genetic characteristics. This work shows the results of mitochondrial DNA analysis of seven ancient human remains from the Cave of Santimamiñe in the Basque Country dated from Mesolithic to the Late Roman period. In addition, we compared these data with those obtained from a modern sample of Basque population, 158 individuals that nowadays inhabits next to the cave. The results support the hypothesis that Iberians might have been less affected by the Neolithic mitochondrial lineages carried from the Near East than populations of Central Europe and revealed the unexpected presence of prehistoric maternal lineages such as U5a2a and U3a in the Basque region. Comparison between ancient and current population samples upholds the hypothesis of continuity of the maternal lineages in the area of the Franco-Cantabrian region.

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Section: Phylogenetic Historymentioning

confidence: 99%

Section: Phylogenetic Historymentioning

confidence: 99%

Section: Phylogenetic Historymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian Peninsula

et al. 2017

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“…The relationship of early Iberian farmers to their Central European counterparts and HG groups in Iberia, as well as their contribution to the present-day genomic variation in Iberia, is crucial to understanding the demographic history of the region. Of particular interest is the connection of Basques to different ancient groups in Iberia, to shed light on their long-debated origins (6)(7)(8)(9)(10)(11)(12)(13).…”

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confidence: 99%

Ancient genomes link early farmers from Atapuerca in Spain to modern-day Basques

Günther

Valdiosera

Malmström

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

259

210

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The consequences of the Neolithic transition in Europe—one of the most important cultural changes in human prehistory—is a subject of great interest. However, its effect on prehistoric and modern-day people in Iberia, the westernmost frontier of the European continent, remains unresolved. We present, to our knowledge, the first genome-wide sequence data from eight human remains, dated to between 5,500 and 3,500 years before present, excavated in the El Portalón cave at Sierra de Atapuerca, Spain. We show that these individuals emerged from the same ancestral gene pool as early farmers in other parts of Europe, suggesting that migration was the dominant mode of transferring farming practices throughout western Eurasia. In contrast to central and northern early European farmers, the Chalcolithic El Portalón individuals additionally mixed with local southwestern hunter–gatherers. The proportion of hunter–gatherer-related admixture into early farmers also increased over the course of two millennia. The Chalcolithic El Portalón individuals showed greatest genetic affinity to modern-day Basques, who have long been considered linguistic and genetic isolates linked to the Mesolithic whereas all other European early farmers show greater genetic similarity to modern-day Sardinians. These genetic links suggest that Basques and their language may be linked with the spread of agriculture during the Neolithic. Furthermore, all modern-day Iberian groups except the Basques display distinct admixture with Caucasus/Central Asian and North African groups, possibly related to historical migration events. The El Portalón genomes uncover important pieces of the demographic history of Iberia and Europe and reveal how prehistoric groups relate to modern-day people.

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Genetics and the History of the Basque People

López

Alonso

2013

Encyclopedia of Life Sciences

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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.

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The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times

Cited by 59 publications

References 46 publications

Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian Peninsula

Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian Peninsula

Ancient genomes link early farmers from Atapuerca in Spain to modern-day Basques

Genetics and the History of the Basque People

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