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Not so unusual

The idea that the Basques are a palaeolithic relic population was an attractive one in the days when population geneticists had only blood-groups to look at. Their high percentage of blood type O Rh-negative tied together with their non-Indo-European language made them seem a precious resource in efforts to understand the prehistory of Europe. The Basques have been a much-studied people. Studies have tended to find what they expected - something unusual about the Basques.^{1A Aguirre et al, Are the Basques a single and a unique population?, American Journal of Human Genetics, vol. 49 (1991), no.2.pp. 450–458; M. Iriondo, M. C. Barbero and C. Manzano, MHUMF13A01 in autochthonous Basques and in genetically related populations, International Journal of Anthropology, vol. 16 (2001), no. 4, p. 225-233; I. Santin et al, Killer Cell Immunoglobulin-Like Receptor (KIR) Genes in the Basque Population: Association Study of KIR Gene Contents With Type 1 Diabetes Mellitus, Human Immunology, vol. 67 (2006), nos. 1-2, pp. 118-124.}

After geneticists gained the sharper tools of mtDNA and Y-DNA they gradually realised that the Basques are not markedly different from any other European population in these ancestral markers.^{2F. Calafell et al, Genetic structure of the Spanish populations: the end of the Basque singularity? Paper read at the seventy-eight Annual Meeting of the American Association of Physical Anthropologists, 2009; S.Alonso, The place of the Basques in the European Y-chromosome diversity landscape, European Journal of HumanGenetics, vol. 13, no 12 (2005), pp.1293-302.} The common Western European Y-DNA haplogroup R1b1b2 is as strongly represented in them as in their neighbours. So ingrained was the idea that Basque ancestry lay in the deep past, that the reaction was to declare that the whole of Europe must descend from European hunter-gatherers. This nonsense has continued up to (and even beyond) the point when Y-chromosome R1b1b2 was dated far too late for such a thesis to be feasible. (The common ancestor of a sample of R1b1b2 Basques has been dated at 4,050 years before the present.)^{3A. Klyosov, DNA Genealogy, Mutation Rates, and Some Historical Evidences Written in Y-Chromosome, Nature Precedings hdl:10101/npre.2008.2733.1.}

Much was made in early papers of the supposed absence in the Basque population of mtDNA J (seen as a Neolithic marker). However more recent studies found a high frequency of haplogroup J in French and Spanish Basques, especially subhaplogroups J1c1 and J2a.^{4M.A. Alfonso-Sánchez et al., Mitochondrial DNA haplogroup diversity in Basques: A reassessment based on HVI and HVII polymorphisms, American Journal of Human Biology (2008); C. Richard et al, An mtDNA perspective of French genetic variation, Annals of Human Biology, vol. 34, (2007), issue 1, pp.:68-79.} A high level of mtDNA J was also found in DNA extracted from 6th-7th century AD human remains at the necropolis of Aldaieta in the Spanish Basque Country.^{5Neskuts Izagirre, Genetic analysis of the historic necropolis of Aldaieta (Basque Country) and its implications in the evolutionary history of the Basques (2005): paper read at HUGO's 10th Human Genome Meeting.} Another study found a sample of Basques was 91.7% lactase persistent, a mutation connected to pastoralism.^{6N. S. Enattah et al, Evidence of Still-Ongoing Convergence Evolution of the Lactase Persistence T-13910 Alleles in Humans,The American Society of Human Genetics, vol. 81, no.3 (2007), pp.615-625.} A genome-wide study of Spanish Basques did not find them distinctive among Iberian populations.^{7H. Laayouni, F. Calafell and J. Bertranpetit, A genome-wide survey does not show the genetic distinctiveness of Basques, Human Genetics (online February 16, 2010).} In short there is no evidence that the Basques are a living fossil of the original European gene pool.

Should we expect it? They have been surrounded by Indo-European speakers for millennia. Even a small gene flow, one percent per generation, into the Basque population from their neighbors for five thousand years, would replace the ancient Basque genes.

But consider the languages spoken by these immigrants. Since they arrive in small numbers they and their children learn Basque and, save for occasional loan words, have little effect on the language. The Basque language has persisted over millenia while the neutral genome has been replaced. Meanwhile, natural selection at the Rh locus is such that the common type is favored. If the original state was all or mostly Rh negative, then there would ongoing selection against any Rh positive genes introduced by the immigrants. In this way, both language and the Rh system preserve deeper history than neutral genes.^{8H.C. Harpending and E. Eller, Human Diversity and its History, in M. Kato (ed.), The Biology of Biodiversity (1999), chapter 20, pp. 301–314.}

Neolithic arrival?

The Basque language, Euskara, along with Iberian, remain interesting as non-Indo-European languages in South-West Europe. It seems doubtful that any European Mesolithic language survived the incoming wave of farmers and thousands of years in which they consolidated their hold on Europe. The pattern world-wide appears to be that hunter-gatherer's languages were replaced by farmer's languages.^{9J. Diamond and P. Bellwood, Farmers and Their Languages: The First Expansions, Science, vol. 300 (2003), no. 5619, pp. 597-603.} So the non-Indo-European languages which survived long enough to be written down or mentioned by Classical authors were probably all Neolithic period or later arrivals, but not necessarily related. The late Larry Trask, who was an expert on on Basque linguistics and author of The History of Basque (1996), dismissed the various attempts to connect Euskara to other languages, with one exception:

Aquitanian was an ancestral form of Basque: modern Basque is the direct descendant of that Aquitanian language spoken in southwestern Gaul and in most of the Pyrenees, with (so far as we know) only a rather modest extension into Spain, in eastern Navarre and probably Gipuzkoa. Hence, in origin, Basque was primarily a language of Gaul which later spread west and south into Spain, into the remainder of the modern Basque Country. In the early Roman period, in Bizkaia, in Araba, and in western Navarre, we find evidence only for Indo-European speech: not a single Aquitanian name is recorded in this area. We therefore believe that Basque must have spread into these territories (and beyond) only later, probably after the collapse of Roman power in the area.

Other supporters of this hypothesis, known as the late basquenization of the Basque depression, have dated the migration to the 6th and 7th centuries.^{10F. Villar, B. M. Prósper,Vascos, Celtas e Indoeuropeos: Genes y lenguas (2005), p.513.}

An origin in Aquitaine would fit the migration of farmers from the Near East into the Balkans and then hopping around the northern coast of the Mediterranean, leaving its mark in Impressed Ware, some of which is known as Cardium Pottery. What this distribution map does not show is that this pottery spread from the Golfe du Lion via the Aude and the Carcassone Gap into the valley of the Garonne. However some authors have considered the possibility of Neolithic groups arriving in what was later to become Aquitaine via another route - through the straits of Gibraltar and around the coast of Iberia.

There have even been hints of Neolithic migrations from North Africa. Fulvio Cruciani and colleagues argue the latter case. They found the Y-DNA subhaplogroup E1b1b1a1 (E-V12*) among the French Basques (at a frequency of 6.25%), but not the Spanish Basques. This subclade is found at its highest concentrations today in Southern Egyptians, but they suggest that it originated in or near northern Egypt, and was involved in migrations across the Mediterranean from Africa. This and closely related subclades

Are observed almost exclusively in Mediterranean Europe, as opposed to central and eastern Europe. Also, among the Mediterranean populations, they are more common in Iberia and south-central Europe than in the Balkans, the natural entry-point for chromosomes coming from the Levant.^{11Cruciani et al, Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12, Molecular Biology and Evolution, vol. 24, no. 6 (2007), pp. 1300-1311.}

Susan Adams and her colleages preferred to interpret Y-DNA E1b1b1b (formerly E3b2) in Iberia as the legacy of the Moorish conquest, yet they note themselves that the highest mainland proportions of North African ancestry (>20%) are found in Galicia and Northwest Castile, with much lower proportions in Andalusia, which scarcely mirrors the area of Moorish control. In a similar vein they attribute Y-DNA J2 to the long Jewish presence in Iberia, though J2 is elsewhere considered a Neolithic marker, or a trace of the Phoenicians. Like so many earlier studies Adams and colleagues have assumed the Basques to represent the Iberian genetic pool prior to immigrations in historical times, rather than attempting to unravel the many strands of immigration into Iberia over millennia.^{12S.M. Adams et al, The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula, The American Journal of Human Genetics, vol. 83 (2008), no. 6, pp. 725-736; P. Zalloua et al, Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean,The American Journal of Human Genetics, vol.83 (2008), no.5, pp. 633-642.}

Copper or Bronze Age arrival?

An alternative proposal would be that the Basques descend from a small group that arrived along with the wave of Indo-European colonisation, but happened to speak a different language. The early speakers of Proto-Indo-European seem to have mixed with their neighbours and peoples encountered as they spread. No doubt the mixing could be in the form of male Indo-European speakers taking wives who spoke another language. If the male then died, leaving a mother to bring up her children within the Indo-European community, yet teaching her children her own mother-tongue, we can see how the oddity that is the Basques might arise.

However the Basques are not the only unexplained anomaly in Iberia. It has been generally assumed that the Iberians predated the Celts in Iberia. Yet the southeastern territory in which Iberian was once spoken has just as much Y-chromosome R1b1b2 + in its present-day population as the areas which were Celtic-speaking. Is this due to subsequent admixture between the two? Or should we picture a multi-lingual Copper and Bronze Age migration into Iberia? The latter is feasible.

Adjoining the Pontic-Caspian steppe, where it is deduced that the Proto-Indo-European language developed, is the Caucasus, which today harbours a startling variety of languages. Its mountainous terrain discouraged migration through and within the area. This allowed relatively isolated groups to retain a patchwork of languages. In the North-West Caucasus a group of languages is spoken today which some have linked to Basque, though Larry Trask remained unconvinced. Further south the Kartvelian languages are now spoken.^{13Johanna Nichols, An overview of languages of the Caucasus (1998).} Did a stream of carriers of R1b1b2 + move out of the Caucasus to join the pastoralists of the steppe before migrating into western Europe? Thus languages from the Caucasus could have migrated along with one branch of the Indo-European language family.

The Maikop Culture of the North West Caucasus (3,700-3,100 BC) had a cultural influence on the peoples of the steppe, particularly on the Kemi Oba Culture of the Crimea and adjoining region (3,700- 2,200 BC).^{14J. P. Mallory, Kemi Oba Culture, Encyclopedia of Indo-European Culture, (1997).} It is possible therefore that Kemi Oba was the result of mixture between the peoples of Maikop and the steppe, and adopted Proto-Indo-European long before the collapse of the Maikop Culture. When that collapse took place, some Maikop people seem to have thrown in their lot with the steppe peoples. So groups of inter-related people speaking different languages could have taken part in the great migration from the steppe up the Danube from around 3,100 BC.

This solution would explain why Euskara appears to be a language from the age of metal. It includes indigenous Basque words relating to agriculture, wheeled vehicles and metallurgy, such as shepherd (artzain), millet (artatxiki - formerly arto), wine (ardo), cart (gurdi), wheel (gurpil from *gurdi-bil, meaning cart-round), smith (harotz), iron (burdina), lead (berun), gold (urre), and silver (zilar). If Euskara were originally the language of hunter-gatherers of South-West Europe, one would expect it to have borrowed words relating to agriculture and metallurgy. A common pattern, where a people adopt a new technology from those speaking another language, is for the foreign words for that technology to be borrowed at the same time. Oddly the Basque words for tin (eztainu), copper (kobre) and bronze (brontze) are all borrowed - or so it seems. It has been convincingly argued that Euskara originally had its own words for these metals. ^{15R.L. Trask, The History of Basque (1997), pp. 249, 255; S.F. Pushkariova, Primario e secundario en los nombres vascos de los metales, Fontes linguae vasconum: Studia et documenta, vol. 30, no.79 (1998), pp. 417-428. Thanks to Iñaki Arrizabalaga for pointing this last paper out and other linguistic comments.}

Most significant is the word for wine. Larry Trask pointed out that the only remotely similar words for `wine' found anywhere are Albanian ardhi and Armenian ort, which are usually thought to be cognate with each other and sometimes thought to be connected with the Basque word. It seems that wine was first made in Georgia and Iran - adjacent to Armenia. So it seems at least possible that the Basques descend from a Copper or Bronze Age group from the Caucasus, drawn to the Pyrenees by its copper resources.

The genetics of mountain fastnesses

But why do Basques have the highest frequency of Rh-negative individuals (25-30%) in the world? The isolation of mountain villages can create pockets of genetic outliers. A study by Laura Caciagli and colleagues found unusual genetic signatures in isolated villages in the highlands of Dagestan, quite different from those even in other areas of the Caucasus.^{16Laura Caciagli et al, The key role of patrilineal inheritance in shaping the genetic variation of Dagestan highlanders, Journal of Human Genetics 54 (2009), pp. 689–694.} So it seems possible that the one really unusual genetic feature of the Basques is a result of genetic drift. Again it may be purely coincidental, but an unusually high level of Rh-negative blood has also been reported for parts of Western Transcaucasia - sometimes more than 20%.^{17G. L. Kavtaradze, Some problems of the interrelation of Caucasian and Anatolian Bronze Age cultures, Quaderni de Archeologia, Universita di Messina 1,1 (2000), p. 108, citing Z. Inasaridze et al., Genetics of Caucasian ethnic groups: distribution of some immunological and biochemical markers in Western Georgia, Russian Journal of Genetics, vol. 26, no. 6. (1990), pp. 1092-1101.}

Conclusion

The Basques remain something of a mystery. Only studies of ancient DNA in Aquitaine and the Pyrennees seems likely to resolve it.

Notes

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