Gene Expression

The language families of Europe fall into a few broad categories. There are the Indo-European languages, which include the Romance, Germanic, Slavic and Celtic subgroups, along with Greek and Albanian. The Iranian languages and most of the languages of India are also Indo-European. Then there are the languages of Finland and Hungary, which are hypothesized to be of a broader Finno-Ugric family. Whatever the validity of this cluster, the relationship of Hungarian and Finnish to languages which are extant deep into Eurasia, beyond the Urals and into Siberia, are not disputed. Turkic and Semitic families have a toehold in Europe via Turkish and Maltese. And finally, you have the Basque dialects. Basque is not related to any other language in the world; it is a linguistic isolate. There have been attempts to connect Basque to languages in the Caucasus, but these are highly speculative conjectures.

So where did Basque come from? A common assumption is that Basque is the autochthonous speech of the Iberian peninsula, perhaps related to the pre-Latin dialects extant to the south and east of the peninsula (the Romans arrived on the scene at a time when Spain was also partially dominated by Celtic tribes). Many go further and assert that the Basques are the pure descendants of the first modern humans to arrive on the European continent, heirs of the Cro-Magnons. Even if this claim is a bit much, many would cede that the Basque populations derive from the hunter-gatherers who were extant on the continent when the Neolithic farmers arrived from the Middle East, and Indo-European speakers pushed in from the east.

i-dbb23329e3afb730723acea0370de299-RHneg.pngIn terms of historical genetics these assumptions result in the Basque population be used as a “reference” for the indigenous component of the European ancestry which reaches back to the Last Glacial Maximum, and expanded from the Iberian refugium after the ice retreated. One of reasons for the assumption of Basque antiquity & purity are genetic peculiarities of the Basques. Foremost among them is that the Basque seem to have the highest frequency of Rh- in the world, primarily because of the high frequency of the null allele within the population (it is a recessively expressed trait). Rh- is very rare outside of Europe, but its frequency exhibits a west-east gradient even within the continent. It has been suggested that the mixing of Rh- and Rh+ blood groups reflects the mixing of hunter-gatherers and farmers in after the Ice Age. The map above the illustrates the frequencies of this trait, and you can see how the Basque region is cordoned off. It’s an old map because blood group were widely collected in the early 20th century. Because of the early knowledge of this heritable trait you have a lot of weird anthropological theories which hinge around blood group genetics having emerged in the early 20th century. But even as late as the mid-90s L. L. Cavalli-Sforza reported in The History and Geography of Human Genes using classical markers that the Basques exhibited some distinctiveness. Over the years with the rise of Y and mtDNA phylogenetics this distinctiveness has taken a hit. I think the data have a tendency of confirming expectations, or it is often interpreted as such. But the recent story of the R1b haplogroup strongly implied that the Basques are no different from other west Europeans, and are likely the descendants of Neolithic farmers themselves!

A new paper in Human Genetics supports the contention that the Basque are just like other Europeans, A genome-wide survey does not show the genetic distinctiveness of Basques:

Basques are a cultural isolate, and, according to mainly allele frequencies of classical polymorphisms, also a genetic isolate. We investigated the differentiation of Spanish Basques from the rest of Iberian populations by means of a dense, genome-wide SNP array. We found that F ST distances between Spanish Basques and other populations were similar to those between pairs of non-Basque populations. The same result is found in a PCA of individuals, showing a general distinction between Iberians and other South Europeans independently of being Basques. Pathogen-mediated natural selection may be responsible for the high differentiation previously reported for Basques at very specific genes such as ABO, RH, and HLA. Thus, Basques cannot be considered a genetic outlier under a general genome scope and interpretations on their origin may have to be revised.

They use a SNP-chip to look at lots of genetic variation in different groups from Spain and France, with a particular focus on Basque-vs-non-Basque differences, as well as the European HGDP sample. They had about 30 individuals in 10 groups unique to their sample. Initially they looked at population level Fst, but I think the PCA is really more informative:


They limited it to 109 SNPs which were the most informative out of the hundreds of thousands on the chip. There is no real difference between Basques and non-Basques. One thing to remember is that it’s rather well attested that the Basque dialects were more widespread in the early historical period than they are today, so there are many Spanish speaking residents of Navarre and French Gascons who are almost certainly descendants of Basque speakers. Nonetheless, there’s no sharp bifurcation that you’d expect from the total national samples which might point to a cryptic Basque & non-Basque genetic chasm.

Because of ancient DNA extraction the historical genetic history of Europe is in flux right now. Uniparental haplogroups which in the early aughts were presumed to be relics of the hunter-gatherer substrate may not be that at all. The new research on R1b suggesting that it originated in Anatolia, and its high frequency in the Basques also puts into doubt the idea that the Basques are pure descendants of Paleolithic Europeans.

Why did people think that the Basque were so special? Mostly because their language is special. It is non-Indo-European. As I stated above, it seems that at the time of the Roman conquest much of Spain, especially away from the coastal Mediterranean fringe, was undergoing a process of Celticization. Eventually Indo-Europeanization was completed by the Romans through the spread of Latin. But, the loci of Roman cultural expansion were colonies which were concentrated along the coastal regions of the Mediterranean. Iberia which faced the ocean was a marginal frontier where Latinization seems to have proceeded rather slowly and fitfully until the Western Empire collapsed. With the re-barbarization of inland and Atlantic Iberia the Basques managed to carve out a niche for themselves as forceful actors (they famously harried the troops of Charlemagne as they returned to Francia after their expedition in northern Iberia).

Behind mountains on the fringes of Europe and against the ocean the Basques evaded Indo-Europeanization. Likely it was simply luck and a random act of history. There are plenty of candidates for non-Indo-European languages across Europe, generally known from isolated inscriptions, but whatever the truth of it is seems that in the few thousand years before Christ Indo-European dialects spread across most of the continent. Only in Iberia did the process occur late enough so we catch glimmers of it in the textual record. It may be that the Finnic people of northeast Europe are also pre-Indo-European, preserved by the peculiar ecology of their region (the other model is that the Finns are themselves newcomers who pushed along the Arctic fringe from the Urals)

But before the Indo-Europeans there were likely other waves of migrants bringing their own culture, foremost among them the Neolithic farmers. It is likely that the Minoans of Crete spoke a pre-Indo-European language, and may have been descendants of this wave of farmers from the Middle East. At this point I think it is as likely that the Basques are descendants of Neolithic settlers sweeping across the littoral fringe of Europe as that they are Paleolithic populations, though it is fair to note that it is unlikely that they are “pure” in either sense.

Let me finish with the authors’ conclusion:

Our analysis showed that, when a genome-wide perspective is applied, Basques are not particularly differentiated from other Iberian populations. The contradiction with previous reports that depicted Basques as genetic outliers can be resolved if we consider that the polymorphisms accounting for most of this differentiation lie in genes such as ABO, RH, and the HLA complex that are, given their involvement in host-pathogen interactions, obvious targets for natural selection in the ancestral populations even at a microgeographic scale. This is yet another example of the sound insights in population genetics that can be achieved with a dense map of genome-wide SNPs, even if only the simplest statistical descriptor, namely, allele frequencies, is pressed into service. Future data with hundreds of thousands of SNPs typed individually in large samples will have to confim the present findings.

There are practical reasons why blood group data was analyzed and interpreted first. But there’s now evidence that blood group distributions are not random, and may emerge as responses to disease pressures. In other words, they aren’t neutral markers which give a good sense of ancestry. This particular issue, combined with Basque genetic (at least on those loci) and linguistic uniqueness, make it understandable why a thesis of Basque local antiquity would be attractive. But the old order must now likely give to the new.

Note: Because of where I grew up I knew a fair number of American Basques, and generally they were very proud of their distinctive heritage. In hindsight I think it is notable that none of them identified as Latino or Hispanic, or claimed Spanish heritage. They were most definitely Basque, which was different.

H/T Dienekes

Citation: Laayouni et al., A genome-wide survey does not show the genetic distinctiveness of Basques, Hum Genet DOI 10.1007/s00439-010-0798-3


  1. #1 bioIgnoramus
    February 18, 2010

    At least the Basques are currently defined by their language so that there is some point studying their genetics. How about the Picts? When I was a schoolboy we were told of their mysterious inscriptions, and that it was conjectured that their language was not Indo-European. Now (see Wikipedia) it is believed that they were Celts. I wonder if this is a change in fashion rather than a response to new evidence? And how about the Attacotti? Mysterious buggers, them. Ate babies, apparently. If they existed at all.

  2. #2 razib
    February 18, 2010

    yes. a lot of potential “non-indo-european” languages like pictish or ligurian are known from very few extant inscriptions and such. etruscan were certainly not indo-european, but now it seems quite evident it was not indigenous to europe either, being from anatolia.

  3. #3 GC
    February 18, 2010

    I see no reason why would Basques would identify as Hispanics or Latinos unless of course their families emigrated first to Latin America and then the USA, and in that case they would probably identify as Basques/Latinos.

    Also, Latinos or Hispanics are not a race. Latinos or Hispanics can be Whites, Asians, Blacks , Natives, Middle Eastern,Pacific Islanders or of mixed heritages thanks to massive immigrations from many countries.
    The countries in Latin America have similar backgrounds because they were colonies of Spain (except Brazil), but every one of them has a distinct history that makes the different cultures unique.

  4. #4 razib
    February 18, 2010

    the argument about “what is a hispanic” is kind of moronic since the group was pretty much invented by the us census in 1970, but it can, or can’t, include people whose origins are from España:

  5. #5 Hel
    February 18, 2010

    The Basques don’t identify themselves as spanish (from Spain), because a great part of them wants the independence from Spain. The people from Catalonia (the north east part of Spain), frequently don´t identify themselves as spanish for the same reasons.

  6. #6 David Marjanović
    February 18, 2010

    Highly interesting, and it fits the most recent suggestions that the Basque language is not only (but distantly!) related to most (not all!) languages of the Caucasus and Burushaski, but even shares agricultural vocabulary with them.

    That the Finnic and the Ugric* languages are closely related is not in dispute. The only question is where the third branch of the Uralic family, the Samoyedic languages, sits: just outside Finno-Ugric (the current mainstream view) or just inside (in which case the term is redundant with Uralic). The current reconstructions of Proto-Finno-Ugric and of Proto-Uralic are very similar, which makes some linguists wonder.

    * Hungarian, Khanty, and Mansi. The latter two are spoken in western Siberia and are seriously endangered, as most Uralic languages are.

  7. #7 IanW
    February 18, 2010

    You had to out them? You couldn’t let them Basque a little longer?! So are they going to find the courage to apply this same technique to the “Palestinians” next?

  8. #8 Rob
    February 18, 2010

    Fairly OT, but the Basques make some of the best cheese in Europe.

  9. #9 John Emerson
    February 18, 2010

    Basques also blow shit up if need be, so don’t mess with them.

    Writing is about 5000 years old, and history depends on writing, so before about 3-4000 BC was all prehistory, and prehistory extends to much more recent times in much of the world.

    On the other hand, the cave paintings are unquestionably human, and they go back 30,000 years. So that means that since then we have 5,000 years of history and 25,000 years of prehistory, 5x as much.

    It is often assumed that illiterate peoples (without history) also were without history in the sense of change (static, timeless, etc.) There’s no reason for this. It’s just an opportunistic methodological assumption made to keep people from wasting time thinking about things there’s no evidence for. It has little or no empirical content.

    25,000 years is a lot of time for a lot of stuff to happen in. Maybe the Basques got to Europe in 2,000 BC 5,000 BC or 7,000 BC. We know that the Bantus, the Malays, the Turks, and the Western Europeans have moved long distances in historical times. Maybe the Basques did too, in prehistory. All we really know is that they were there before the Celts.

    Picking it up from the other end, Cavalli Sforza named the Basques, the Lapps, the Sardinians, and the Icelanders as the most genetically distinct European peoples. The Basques seem to be an ancient survival, the Lapps are either a survival or migrants from a nearby area, the Sardinians are a combination of an ancient survival and the island effect. So far so good. But the unique Icelandic gene pool was created by processes we know of historically (island effect and founder effect) during a period of only 1000 years.

    If genetic uniqueness can appear as quickly as that from a population of known origin, that means that these kinds of gener studies have to be interpreted very carefully. You really have to ask about every unique population whether they were created by recent effects. This doesn’t mean that nothing can be known, there are ways of sifting the evidence, but these considerations seem to sharply limit the usefulness of genetic typing for this kind of study. At the least, they require an additional level of analysis to eliminate recent effects.

  10. #10 ellie
    February 18, 2010

    From where I’m sitting (i.e. non-US), Hispanic means relating to the Iberian peninsula.

    Interesting article. The SNP revolution continues!

  11. #11 DesertHedgehog
    February 18, 2010

    C’mon, people. Is it so hard to see where the Basques are from? You look at written Basque and people will inevitably say, “Damn it, it looks like Martian to me!” And what to the Basques wear? Those berets…which look exactly like…flying saucers. And need I point out that the Basque ETA terroristas are always blowing people…up…as in…closer to space?

  12. #12 cj
    February 18, 2010

    “the argument about “what is a hispanic” is kind of moronic …”
    True dat, but the ‘awarding’ of billions in federal, state and local contract dollars are affected by that argument (or lack thereof)

  13. #13 CS Shelton
    February 18, 2010

    Basques could be culturally isolated and genetically integrated at the same time. See the recent studies that say the Irish and the British are – genetically – one people. How does that work? Geographic proximity means intermarriages will happen, but the culture has some reinforcing effects which quiet the influence of outsider parents. That leaves the question of their origins still wide as hell open. I second the guy that said prehistory – as unknowable as it is – has a lot to do with these things. WTF happened back then? I wants me a time machine.

  14. #14 Nathan Myers
    February 18, 2010

    John Emerson nails it. 20Ky is plenty of time for wave after wave of migration, supplantation, holocaustic plague, and more than one genocide. You might as well go to the Alps and record echoes of pre-IE yodeling.

  15. #15 windy
    February 18, 2010


    Why, has someone claimed that they are a genetic outlier?

  16. #16 megan
    February 18, 2010

    Thoughts, From reading so many of the posts here, isn’t it possible for an ancient Paleolithic group to genetically get subsumed into the migrating newcomer population but adhere to and keep the ‘old ways’ and language. Stating that just because recent DNA sampling equates the present Basques to Europeans, still in my mind doesn’t disprove their possible distinct genetic ancestry to non-Neolithic hunter-gathers/fishermen. Migrating Neolithic farmers could have spread into the population through marriages or other mating. A funny article noted that X chromosome typing shows that females tended to settle with or mate with(unknown as for context or circumstances were voluntary/violence) with migrating herder/farmer males vs the less stable hunting males. Thus new genes spread rapidly from the few introduced males’ offspring but the older genes from the X still connected the ancient population existence before the newer Y spread genes became the status.

  17. #17 toto
    February 18, 2010

    This PCA graph showing a clean separation between French and Spanish Basques is very counter-intuitive. Basque people straddle the Pyrenees mountains. Who are these blue dots that manage to slip in between the two (presumably neighbouring) Basque populations?

    In fact, that graph is also political dynamite. I predict widespread furore if this study hits the mainstream media – especially considering that the authors are filthy Catalans!

  18. #18 John Emerson
    February 18, 2010

    Megan, I think that all that was said is that earlier tests and analyses suggesting that the Basques are genetically unique were redone and essentially refuted. It didn’t prove anything, just removed one major argument for the “ancient population” conclusion.

  19. #19 Paul Jones
    February 18, 2010

    Your website is just too awesome.

    Thank you for being you.

  20. #20 Jean M
    February 18, 2010

    That distribution map appears to be map 16 from Lundman (1963) The Percentage Distribution of Blood-Allele R in the ABO-System in Europe ( This is not Rh-. As explained in the text, “The European distribution of blood-allele r (the gene for blood type O in the ABO-System) is shown in Map 16.”

    You might be interested in my conjectures on the Basques:

    Their language appears to be Bronze Age.

  21. #21 johannes
    February 19, 2010

    > There are plenty of candidates for non-Indo-European languages
    > across Europe, generally known from isolated inscriptions,

    What about the Etruscans? They have left around 13.000 inscriptions and even one complete book.

  22. #22 chris y
    February 19, 2010


    Unless, of course, the Neolithic farmers were the Indo-Europeans, following Renfrew et al. In which case Basque is either earlier or a separate later incursion. As I understand it, the few inscriptions associated with the Aquitani (one of the three parts into which Caesar recognised that geographical Gaul was divided) appear to be related to Basque, which suggests they were at one time more widespread.

  23. #23 John Emerson
    February 19, 2010

    In linguistics there has been so much speculation about the Basques that it’s become a standing joke. There’s probably been some decent work done, but most of it is haphazard and amateurish. A linguist specializing in Basque wrote:

    But please note: I do not want to hear about the following:

    Your latest proof that Basque is related to Iberian / Etruscan / Pictish / Sumerian / Minoan / Tibetan / Isthmus Zapotec / Martian

    Your discovery that Basque is the secret key to understanding the Ogam inscriptions / the Phaistos disc / the Easter Island carvings / the Egyptian Book of the Dead / the Qabbala / the prophecies of Nostradamus / your PC manual / the movements of the New York Stock Exchange

    Your belief that Basque is the ancestral language of all humankind / a remnant of the speech of lost Atlantis / the language of the vanished civilization of Antarctica / evidence of visitors from Proxima Centauri

    More at my link.

  24. #24 John Emerson
    February 19, 2010
  25. #25 Jean M
    February 19, 2010

    I see that you have changed the map for one that does show Rh negative distribution. Thanks.

  26. #26 miko
    February 19, 2010

    Megan raises an interesting point about “groups.” Although it is probably reasonable to assume that gene flow and cultural flow usually go together, and it is easy to imagine cultural flow without gene flow, it is harder but not impossible to imagine cultural conditions that allow enough gene flow to create indistinguishable populations while leaving cultural barriers (language, food, blow-shit-upness) intact. So if Basques are a distinct group or not depends on what you mean by group. If you’re a population geneticists they are not, for every other purpose they obviously are. We–or at least lots of people–tend to have a strong need to feel that our identities are inherited and lineage related. Studies like this remind us that identities and culture must be constantly recreated to be sustained, they have nothing to do with biology.

  27. #27 razib
    February 19, 2010


    they’re not indigenous.


    i rate the probability of this as very low.

  28. #28 John Hawks
    February 19, 2010

    109 “highly informative” SNPs out of hundreds of thousands is combining some genuinely different ones with others that are just the tail of random statistical noise in a small sample. Sure seems like a big sample, but it’s small for thinking you know the local frequencies of hundreds of thousands of SNPs.

    It’s suspicious to me that they come to a different result than the classical markers. Classical markers aren’t ideal, but they were more or less randomly picked with respect to frequency differences in these samples. So if the 109 SNPs here look different, I suspect the selection bias may be more important than the population structure.

  29. #29 MadScientist
    February 20, 2010

    I always thought that the only people who thought there was something special about the Basco were the Basco; it looks like science will vindicate me yet. They are rather proud of their cultural identity; I only call them Spanish if I have known them for a long time and want to rile them (I have only ever known the Iberian Basco – I didn’t even know there were others).

  30. #30 Blackbird
    February 20, 2010

    Would you infer from this study that the spread of Celtic and Roman culture of the Iberian Peninsula did not affect much the genetic substrate? My point is, the rest of the Iberian Peninsula is as distinct as the Basques when you look at the European genetic SNP analysis. Also, the geographic distribution of Celtic cultures in the NW corner of Spain, NW France, W/N in UK shows that previous cultures survival is more likely when defended by mountains and the sea.

  31. #31 guthrie
    February 21, 2010

    Biolgnoramus – the thing with the Picts was not so much new evidence (Although I think the archaeological evidence doesn’t point to much discontinuity which might be expected from different languages) but that the old evidence was judged to be pretty poor by modern standards and in fact allowed a different interpretation, ie that the Picts simply spoke a different variant of Celtic language, whether P or Q I can’t remember. Which would explain the need for interpreters for foreigners from IReland.

  32. #32 David Marjanović
    February 21, 2010

    You might be interested in my conjectures on the Basques:

    Their language appears to be Bronze Age.

    I thought “aaaah, yet another crank, yay!” and clicked the link to find some amusement. I was wrong. Check it out yourselves. The best part is the one about the native (or at the very least non-IE) Basque words that refer to agriculture, wheeled vehicles, and metals.

    Here’s more from a historical point of view.

    Link doesn’t work.

  33. #33 John Emerson
    February 21, 2010
  34. #34 John Emerson
    February 21, 2010

    My link is the same as Jean M’s, it turns out. I found it by Google.
