Basque Genetics: Abstracts and Summaries

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Basques live in northern Spain and southwestern France with a unique language unrelated to other living European languages but which may have been connected to the extinct Paleo-Sardinian language that used to be spoken by the Sardinians. Their most common Y-DNA haplogroup is R1b1, which is very common in western Europe. They frequently hold the mtDNA haplogroups H1, H3, and V. They are autosomally similar to non-Basque Iberians.

Major studies of Basques

Santos Alonso, Carlos Flores, Vicente Cabrera, Antonio Alonso, Pablo Martín, Cristina Albarrán, Neskuts Izagirre, Concepción de la Rúa, and Oscar García. "The place of the Basques in the European Y-chromosome diversity landscape." European Journal of Human Genetics 13:12 (2005): pages 1293-1302.
      The Y chromosomes of 68 male Basques were analyzed. About 86 percent of them carried varieties of haplogroup R1*(xR1a,R1b3f)-M173, of which most carried R1b3*-M269. This is a commonality between Basques and other western Europeans. 7.1 percent of the Basques in this study (a lower frequency than other scientists had found) carried the Iberian-specific subclades R1b3d-M153 and R1b3f-SRY2627, with the latter representing 2.4 percent of the sample. 1.2 percent of Basque males carry haplogroups of northwestern African origin, namely E3*-P2 and E3b2-M81.

Ana M. González, Oscar García, José M. Larruga, and Vicente M. Cabrera. "The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country." BMC Genomics 7:1 (May 23, 2006): 124.
      The mtDNA haplogroup U8a is rare and ancient in Europe, and Basques have the most ancient subclades of it.

Doron M. Behar, C. Harmant, J. Manry, Mannis van Oven, W. Haak, B. Martínez-Cruz, J. Salaberria, B. Oyharçabal, F. Bauduer, David Comas, Lluís Quintana-Murci, and the Genographic Consortium. "The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times." American Journal of Human Genetics 90:3 (March 9, 2012): pages 486-493. First published online on February 23, 2012. An erratum was published in the May 4, 2012 issue (90:5) on page 936.
      The researchers studied the mtDNA lineages of "908 Basque and non-Basque individuals from the Basque Country and immediate adjacent regions", giving special attention to branches of haplogroup H. Excerpts from the Abstract:

"[...] We identified six mtDNA haplogroups, H1j1, H1t1, H2a5a1, H1av1, H3c2a, and H1e1a1, which are autochthonous to the Franco-Cantabrian region and, more specifically, to Basque-speaking populations. We detected signals of the expansion of these haplogroups at ~4,000 years before present (YBP) and estimated their separation from the pan-European gene pool at ~8,000 YBP, antedating the Indo-European arrival to the region. Our results clearly support the hypothesis of a partial genetic continuity of contemporary Basques with the preceding Paleolithic/Mesolithic settlers of their homeland."

Sergio Cardoso, Miguel A. Alfonso-Sánchez, Laura Valverde, Adrian Odriozola, Ana Maria Pérez-Miranda, José A. Peña, and Marian M. de Pancorbo. "The Maternal Legacy of Basques in Northern Navarre: New Insights into the Mitochondrial DNA Diversity of the Franco-Cantabrian Area." American Journal of Physical Anthropology 145:3 (July 2011): pages 480-488. First published online on May 3, 2011.
      They tested 110 Basque people from Navarre in northern Spain to investigate their mitochondrial DNA diversity. 11.8 percent of these Basques were found to carry the mtDNA haplogroup J1c, while 10.9 percent carried H3. Some of the study's Basques carried haplogroup H2a5 and it is considered autochthonous to Basques. 15.5 percent of the study's Basques carried haplogroup U5b, moreso than Basques from other places. A lower proportion of Navarre's Basques carry the haplogroups HV0 and H1 in comparison to other northern Iberians.

Óscar García, Santos Alonso, Nicole Huber, Martin Bodner, and Walther Parson. "Forensically relevant phylogeographic evaluation of mitogenome variation in the Basque Country." Forensic Science International: Genetics 46 (May 2020): article number 102260. First available online on February 6, 2020.
      They tested the full mtDNA sequences of 178 Basque people from Basque Country in northern Spain. X2b7 is one of the many haplogroups they found among these Basques. They also found some mtDNA lineages that they call "Basque-specific".

Chrystelle Richard, Erwan Pennarun, Toomas Kivisild, Kristiina Tambets, Helle-Viivi Tolk, Ene Metspalu, Maere Reidla, Sylviana Chevalier, Stéphanie Giraudet, Lovorka Barac-Lauc, Marijana Pericic, Pavao Rudan, Mireille Claustres, Hubert Journel, Ian Dorval, Claude Muller, Richard Villems, André Chaventré, and Jean-Paul Moisan. "An mtDNA perspective of French genetic variation." Annals of Human Biology 34:1 (January-February 2007): pages 68-79.
      This mitochondrial DNA study of 868 people from 12 areas of France includes Basques from the Basque province of Lapurdi in France. These French Basques were found to have noteworthy differences in mtDNA distribution compared to Spanish Basques.

Excerpts from the Results section:

"[...] The French Basques' mtDNA pool shares some common features with that of the Spanish Basques, such as the high frequency of haplogroup H. However, the French Basques exhibit a number of distinct features, most notably expressed in the prevalence of haplogroups linked with the Neolithic diffusion in Europe. [...]"

Excerpts from the body of the paper:

"[...] It is somewhat surprising to find Hg U4 at a relatively high frequency (6.2%) and diversity among the French Basques (absent in Spanish Basques), because this sub-clade of U is largely East European and West Siberian (Tambets et al. 2003) in its distribution. In contrast to U4, Hg U5b2 is rare among French Basques (2.5%), and more frequent in the Spanish Basques. One other particularity of the French Basque is found within Hg J, more frequent than in the Spanish Basques (see Table I), and also the presence of the Hg J1c haplotype with HVS-I motif 16069-16126-16300. The derivatives of this branch of Hg J have been so far found mostly in Near Eastern populations (Richards et al. 2002; Metspalu et al. 2004; and authors' unpublished data). Likewise to U4, Hg T1 is found only in French Basques. This is particularly interesting when correlated with Hg J distribution, suggesting that mtDNA branches supposedly linked with Neolithic in the European context (Richards et al. 2000) are more frequent among the French Basques. [...] The French Basques show a representative frequency of Hgs T1 and J that have been suggested to have been introduced to Europe with the advent Figure 4. [...] On the other hand, haplogroups such as U5 and HV0 that are frequent in Spanish Basques are absent or rare in the French Basques, while for Hg U4 its distribution is the opposite. The pattern observed in the mtDNA pool of the French Basques from the Lapurdi region may be explained by genetic drift and cultural isolation in a relatively small long-term effective population size. In addition, it is also likely that both French and Spanish Basques, although sharing a common linguistic and probably also genetic ancestry, have been affected by admixture from different sources. Meanwhile, the overall high frequency of autosomal recessive coagulation factors deficiencies in French Basques population (Bauduer et al. 2004) argues in favour of genetic drift acting on this population. [...] Taken together, our findings support the notion that 'Basques' are a strongly sub-divided population and support a conclusion that French and Spanish Basques have been effectively isolated from each other for a long enough period to allow random genetic drift to differentiate them."

Iñigo Olalde, Swapan Mallick, Nick Patterson, Nadin Rohland, Vanessa Villalba-Mouco, et al. "The genomic history of the Iberian Peninsula over the past 8000 years." Science 363:6432 (March 15, 2019): pages 1230-1234.
      This important study with dozens of co-authors compares the autosomal DNA of hundreds of ancient Iberians with modern Iberians. Although Basques did gain significant steppe-origin admixture from male conquerors who arrived in roughly 2000 B.C.E. and substantially transformed the Iberians' mtDNA distribution and nearly completely transformed the Y-chromosomal distribution, Basques did not obtain the later admixtures from North Africans and Eastern Mediterraneans (Phoenicians and Sephardic Jews) that other Iberians have, due to a genetic (as well as cultural and linguistic) split between Basques and the other Iberians starting around the early Roman period (3rd-1st centuries B.C.E.), which followed the end of the Iron Age. Something that Basques share with other Iberians is a huge proportion of the Y-DNA haplogroup R1b-M269. Excerpts from the Abstract:

"[...] We show that, in the Iron Age, Steppe ancestry had spread not only into Indo-European-speaking regions but also into non-Indo-European-speaking ones, and we reveal that present-day Basques are best described as a typical Iron Age population without the admixture events that later affected the rest of Iberia. [...]"

Neskuts Izagirre and Concepción de la Rúa. "An mtDNA Analysis in Ancient Basque Populations: Implications for Haplogroup V as a Marker for a Major Paleolithic Expansion from Southwestern Europe." The American Journal of Human Genetics 65:1 (July 1999): pages 199-207.
      A study comparing ancient and modern Spanish Basques from varying regions across Basque Country.

J. Bertranpetit, J. Sala, F. Calafell, Peter A. Underhill, P. Moral, and David Comas. "Human mitochondrial DNA variation and the origin of Basques." Annals of Human Genetics 59:1 (January 1995): pages 63-81.
      They tested 45 Spanish Basque individuals for their mtDNA lines and found 27 different mtDNA subclades among them.

B. Martínez-Crus, C. Harmant, D. E. Platt, W. Haak, J. Manry, E. Ramos-Luis, D. F. Soria-Hernanz, F. Bauduer, J. Salaberria, B. Oyharçabal, Lluís Quintana-Murci, David Comas, and the Genographic Consortium. "Evidence of pre-Roman tribal genetic structure in Basques from uniparentally inherited markers." Molecular Biology and Evolution 29:9 (2012): pages 2211-2222.
      About 900 Basque and non-Basque individuals were studied. Basques were found to be similar to other southwestern Europeans. Excerpts from the Abstract:

"[...] their genetic uniqueness is based on a lower amount of external influences compared with other Iberians and French populations. Our data suggest that the genetic heterogeneity and structure observed in the Basque region result from pre-Roman tribal structure related to geography and might be linked to the increased complexity of emerging societies during the Bronze Age."

Torsten Günthera, Cristina Valdiosera, Helena Malmströma, Irene Ureña, Ricardo Rodriguez-Varela, Óddny Osk Sverrisdóttir, Evangelia A. Daskalaki, Pontus Skoglund, Thijessen Naidoo, Emma M. Svensson, José María Bermúdez de Castro, Eudald Carbonelli, Michael Dunn, Jan Storå, Eneko Iriarte, Juan Luis Arsuaga, José-Miguel Carretero, Anders Götherström, and Mattias Jakobsson. "Ancient genomes link early farmers from Atapuerca in Spain to modern-day Basques." Proceedings of the National Academy of Sciences of the United States of America (PNAS) 12:38 (September 22, 2015): pages 11917-11922. First published online on September 2, 2015.
      These scientists used autosomal DNA analysis of modern versus ancient samples to conclude that Basques descend from a combination of foreign Neolithic farmers who moved to Iberia and local Mesolithic hunter-gatherers (WHG). However, over the past several millennia, the Basques did not have additional admixtures with outsiders like other Iberians did.

Laura R. Botigué, Brenna M. Henn, Simon Gravel, Brian K. Maples, Christopher R. Gignoux, Erik Corona, Gil Atzmon, Edward Burns, Harry Ostrer, Carlos Flores, Jaume Bertranpetit, David Comas, and Carlos D. Bustamante. "Gene flow from North Africa contributes to differential human genetic diversity in southern Europe." Proceedings of the National Academy of Sciences of the United States of America (PNAS) 110:29 (July 16, 2013): pages 11791-11796.
      This study analyzed autosomal DNA from "2,099 individuals in 43 populations" and found that Basques carry less North African (Berber-related) admixture compared to other ethnic groups of Spain.

F. Bauduer, J. Feingold, and D. Lacombe. "The Basques: review of population genetics and Mendelian disorders." Human Biology 77:5 (October 2005): pages 619-637.
      Includes discussion of Basques' Y-DNA and mtDNA lines and their Human Leukocyte Antigen (HLA) types, drawing from previous studies.

Ana Maria Pérez-Miranda, Miguel A. Alfonso-Sánchez, José A. Peña, and R. Calderón. "HLA-DQA1 polymorphism in autochthonous Basques from Navarre (Spain): genetic position within European and Mediterranean scopes." Tissue Antigens 61:6 (June 2003): pages 465-474.
      This study of Human Leukocyte Antigen (HLA) types found the DQA1*02 allele among a high proportion of Basques from Guipúzcoa and North Navarre. The researchers were unable to confirm any HLA commonality between Basques and North Africans. Their conclusion was that the Basques had become relatively genetically isolated from their non-Basque neighbors, with "low levels of admixture".

S. García-Obregón, Miguel A. Alfonso-Sánchez, Ana Maria Pérez-Miranda, Marian M. de Pancorbo, and José A. Peña. "Polymorphic Alu insertions and the genetic structure of Iberian Basques." Journal of Human Genetics 52:4 (2007): Pages 317-327. First published online on February 3, 2007.

Neskuts Izagirre, Santos Alonso, and Concepción de la Rúa. "DNA Analysis and the Evolutionary History of the Basque Population: A Review." Journal of Anthropological Research 57:3 (Autumn 2001): pages 325-344.

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