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• W3165531018 abstract "As the only speakers of a non-Indo-European language lacking connections to any other language, the origin and evolution of the Basque population have been topics of interest. A new genomic analysis of Basques shows that they are not a relict Paleolithic population as once thought. As the only speakers of a non-Indo-European language lacking connections to any other language, the origin and evolution of the Basque population have been topics of interest. A new genomic analysis of Basques shows that they are not a relict Paleolithic population as once thought. The overwhelming majority of people from Iceland to India speak languages that, unintelligible as they may sound to each other, actually belong to the same family, the Indo-European family. In Europe, only a few countries speak languages that are genetically distant from Indo-European, but we are nevertheless clear as to their place in the tree of languages. There is one exception, however: the enigmatic Basque. In Basque, natively known as Euskera, none of the diagnostic linguistic traits of Indo-European exists1Gorrochategui J. Lakarra J.A. Why Basque language cannot be, unfortunately, an Indo-European language.J. Indo. Eur. Stud. 2013; 41: 203-237Google Scholar. And furthermore, no genetic relationship to any other language, living or dead, is known for Basque. Thus, it is considered one of the over 100 linguistic isolates in the world, the only one in Europe. This linguistic quirk has also been assumed to be a major factor underlying Basque genetic differentiation. However, a new study published in this issue of Current Biology by Flores-Bello et al.2Flores-Bello A. Bauduer F. Salaberria J. Oyharçabal B. Calafell F. Bertranpetit J. Quintana-Murci L. Comas D. Genetic origins, singularity, and heterogeneity of Basques.Curr. Biol. 2021; 31: 2167-2177Abstract Full Text Full Text PDF PubMed Scopus (5) Google Scholar illuminates the puzzle of the origins of Basque genetic differentiation. The origin and evolution of the Basque language has long been an unsolved mystery. As a mystery is always a challenge, academics and aficionados alike have tackled the origin of Basque since early times. Many of these attempts have been colorful and intellectually liberal; for instance, already in the 16th century an origin related to the settlement of Tubal, Noah's grandson, was proposed; more recently, links with Berber, Sámi or the Caucasus languages have been suggested. But the mystery still remained. A parallel approach to linguistics that can also shed light on this puzzle is population genetics. One can reason that perhaps by reconstructing the evolutionary biography of Basque people's genomes it could be possible to find an explanation for the origin of the Basque language. Population genetic approaches to the origins of the Basque population can date back to the end of the first half of the 20th century, when Etcheverry3Etcheverry M.A. El factor Rhesus, su genética e importancia clínica.Día Médico. 1945; 17: 1237-1251PubMed Google Scholar, a Basque-Argentinean doctor, noticed a higher incidence of haemolytic disease of the newborn among Basque patients. This observation was linked to the higher frequency of Rhesus (Rh) negative individuals in Basques, and crystallized years later in the landmark work of Cavalli-Sforza and colleagues4Cavalli-Sforza L.L. Menozzi P. Piazza A. The History and Geography of Human Genes. Princeton University Press, Princeton, NJ1994Google Scholar. The origin of the Basque was interpreted by Cavalli-Sforza and collaborators within the general picture of the genetic history of Europe. Thus, using frequency data for a battery of classical markers (blood proteins, antigens and antibodies) for a wide set of world populations analyzed by means of principal component analysis, Cavalli-Sforza and coworkers proposed that the Paleolithic European population was substantially replaced by Early Neolithic peoples from the Fertile Crescent, a consequence of the spread of agriculture by migration of agriculturalists. This proposal was much in line with the ideas of Renfrew5Renfrew C. Archaeology and Language: The Puzzle of Indo European Origins. Cambridge University Press, New York1987Google Scholar on the diffusion of Indo-European languages associated with the early advance of agriculture from Anatolia. In this context, Basques were the exception. Their differentiated pattern of allele frequencies was considered to correspond to a relict Paleolithic European population. However, this paradigm has shifted in recent years due to the new advances in population genomics. In particular, paleogenomics has been extremely useful by allowing us to see different time-slices of our evolutionary past. This way, we can piece together a more dynamic and realistic view of the full array of lineages coexisting at successive time points in the past. Consequently, it is possible to detect shifts in the genetic composition of local populations across time. Thus, in 2015, Haak and collaborators6Haak W. Lazaridis I. Patterson N. Rohland N. Mallick S. Llamas B. Brandt G. Nordenfelt S. Harney E. Stewardson K. et al.Massive migration from the steppe was a source for Indo-European languages in Europe.Nature. 2015; 522: 207-211Crossref PubMed Scopus (887) Google Scholar (see also Allentoft et al.7Allentoft M.E. Sikora M. Sjögren K.G. Rasmussen S. Rasmussen M. Stenderup J. Damgaard P.B. Schroeder H. Ahlström T. Vinner L. et al.Population genomics of Bronze Age Eurasia.Nature. 2015; 522: 167-172Crossref PubMed Scopus (770) Google Scholar) managed to pull out genetic information from a substantial collection of ancient human samples of different ages, and proposed that at least three ancestry layers coexist in the genetic makeup of Europeans: the Paleolithic hunter–gatherer component, the Early Neolithic component and a later contribution from a ‘massive migration’ from the steppes North of the Black and Caspian seas that started during the Late Neolithic. The latter could have replaced up to ∼75% of the previous genetic ancestry of Central Europeans. This outstanding finding also revitalized the hypothesis of Gimbutas8Gimbutas M. The Kurgan Culture and the Indo-Europeanization of Europe: Selected Articles from 1952 to 1993. Institute for the Study of Man, 1997Google Scholar (in opposition to Renfrew's proposal described above) on the spread of Indo-European languages from the Kurgan culture of the Pontic Steppe during the Late Neolithic. For the Basques, this implies that they can no longer be considered a relict Paleolithic European population. Rather, their main genetic component is Early Neolithic, like the rest of the South-European populations (Figure 1; see also Günther et al.9Günther T. Valdiosera C. Malmström H. Ureña I. Rodriguez-Varela R. Sverrisdóttir O.O. Daskalaki E.A. Skoglund P. Naidoo T. Svensson E.M. et al.Ancient genomes link early farmers from Atapuerca in Spain to modern-day Basques.Proc. Natl. Acad. Sci. USA. 2015; 112: 11917-11922Crossref PubMed Scopus (137) Google Scholar). In particular, for Bronze-Age Iberia, a Pontic-Caspian steppe ancestry of ∼40% is inferred10Olalde I. Mallick S. Patterson N. Rohland N. Villalba-Mouco V. Silva M. Dulias K. Edwards C.J. Gandini F. Pala M. et al.The genomic history of the Iberian Peninsula over the past 8000 years.Science. 2019; 363: 1230-1234Crossref PubMed Scopus (165) Google Scholar. Shockingly, as a consequence of the Indo-European invasion of Iberia, Olalde et al.10Olalde I. Mallick S. Patterson N. Rohland N. Villalba-Mouco V. Silva M. Dulias K. Edwards C.J. Gandini F. Pala M. et al.The genomic history of the Iberian Peninsula over the past 8000 years.Science. 2019; 363: 1230-1234Crossref PubMed Scopus (165) Google Scholar also reported an almost complete replacement of Y-chromosome lineages, which would be expected to have a major influence on the languages spoken. The genetic composition of Iberia suffered a further increase in Northern and Central Europe ancestry during the Iron Age. Basques in particular seem to have remained stable since then. Thus, there was a need to resort to historical times to search for possible genetic differentiation events for the Basques. In this context, Flores-Bello et al.2Flores-Bello A. Bauduer F. Salaberria J. Oyharçabal B. Calafell F. Bertranpetit J. Quintana-Murci L. Comas D. Genetic origins, singularity, and heterogeneity of Basques.Curr. Biol. 2021; 31: 2167-2177Abstract Full Text Full Text PDF PubMed Scopus (5) Google Scholar analyze genome-wide single nucleotide polymorphism (SNP) and haplotypic data of Basques and surrounding populations at a detailed micro-geographical scale, covering the whole Franco-Cantabrian region. They confirm that Basques are clearly differentiated from the rest of the surrounding populations, but simultaneously show a marked internal heterogeneity associated with geography. But most importantly, and this is the main novelty of their study, they show that this Basque differentiation cannot be attributed to pre-historical events but instead results from recent genetic isolation since the Iron Age. Evidence of this isolation is the fact that Basques show the highest, even higher than Sardinians, total number of and total length of runs of homozygosity (ROH) in the sample set considered. Similarly, Basques also show a pattern of effective population size over time that seems to be stable and constant, in contrast to that for the external groups compared, which show a substantial increase in effective size since 1,000 generations ago. Language, for its part, may have added to this genetic isolation. Thus, the search for the origins of Basques seems to have been finally framed within this historical time, and consequently there is no need to argue for the continuity of this population since prehistorical times. People living in what is today the Basque region have basically gone through the same demographic processes as the rest of the Iberian populations (i.e., mixing and replacement) brought about by the Neolithic and the Bronze Age demic flows. What seems to have made the difference for the Basques in comparison to the rest of the populations from Iberia is a more limited genetic contribution or gene flow from the more recent Roman or Islamic periods. Finally, one implication of these studies, however, is that the persistence of Basque language is even more enigmatic now. If Bronze Age invaders, supposedly mainly male warriors and speakers of an Indo-European language, almost completely replaced previously existing Y-chromosome lineages, i.e. male individuals, how can it be possible that the local non-Indo-European language of the native, invaded people survived? It seems that this new dominant steppe people either did not impose their Indo-European language, or that somehow local females managed to preserve their local, non-Indo-European language. Alternatively, Basque might have been reintroduced at some later time point, possibly from a nearby location and possibly before Roman times. Take home message: genes and languages do not necessarily follow parallel lives." @default.
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• W3165531018 title "Evolution: On the origin of Basques" @default.
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