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51u-xXl9qUL._SY344_BO1,204,203,200_The Atlantic has a long piece up which basically consists of a list of the usual objections to DNA testing from some Native American groups and individuals (which can be generalized to any indigenous group), Genetic Testing and Tribal Identity: Why many Native Americans have concerns about DNA kits like 23andme. There’s the standard stuff about how Native Americans believe archaeological remains are sacred, etc., and how that conflicts with scientific enterprises. The necessary mention of NAGPRA and such. But this quote was rather “interesting”:

“We know who we are as a people, as an indigenous people, why would we be so interested in where scientists think our genetic ancestors came from?” asks Kim Tallbear, a researcher at the University of Texas at Austin, the author of Native American DNA: Tribal Belonging and the False Promise of Genetic Science, and a member of the Sisseton-Wahpeton Oyate tribe.

Tallbear says that from her perspective, researchers offering to tell tribes where they’re from doesn’t look any different than the Christians who came in to tell them what their religion should be. “Those look like very similarly invasive projects to us,” she said. Tribes haven’t forgotten the history of scientists who gathered native skulls to prove that native people were less intelligent, and thus less entitled to the land they lived on than the white settlers. To them, these genetic questions of origin look pretty similar.

Tallbear explains that to be able to do ethical genetic research on native people in the United States, you need to understand their history. “You have to know something about the history, and about 20th century Native American policy, and how the U.S. as a colonial power dispersed native people from their historic homelands into urban areas and into reservations, how different groups have put tribes together on reservations who never lived together before. You have to know about about relocation and post-World War II politics. If you don’t understand that you can’t begin to ask informed questions about the genetics of Native Americans.”

Kim Tallbear has an academic page. Here’s a sample:

Indigenous, feminist, and queer theory approaches to critical “animal studies” and new materialisms

I have also recently begun to theorize in the area of indigenous, feminist, and queer theory approaches to animal studies and new materialisms. Last year, I co-organized with the Science, Technology, and Society Center at UC Berkeley a symposium on indigenous and other new approaches to animal studies. I was also part of another UC Berkeley symposium last year on New Materialisms where I did a talk on the role of indigenous thought. Both symposia helped mark a space for the role of indigenous thought in these related and burgeoning areas of contemporary social theory and new ethnographic practices.The recent move to “multi-species ethnography” applies anthropological approaches to studying humans and their relations with nonhumans–beings such as dogs, bears, cattle, monkeys, bees, mushrooms, and microorganisms. Such work is both methodologically and ethically innovative in that it highlights how organisms’ livelihoods are co-constituted with cultural, political, and economic forces.

Let’s not beat around the bush here, Native Americans and the government and culture of the United States have a fraught relationship. That is true. But today genetics has pretty much zero relevance to the various political debates and arguments. Issues like tribal membership are determined by the cut & thrust of politics, not genomics. Frankly, these issues are too important to leave to genetics. The possible consequences of genetics are always vague future possibilities. For people who don’t care about abstract genetic questions though even a vanishingly small probability that genetics might impact their concerns is too much of a risk, so naturally they wish to squelch it. And contrary to the implication that Tallbear makes, most scientists who work on Native American genomics don’t do so because of a deep interest in overturning the religious traditions of Native Americans, but because they are interested in the human story, of which Native Americans are an essential part. Rather than ethnic particularism the motives of scientists on the whole are those of universalist humanism.

So one can understand why political activists might balk at the inquiries of geneticists, as universalist humanism often causes problems for those engaged in the great game of ethnic particularism. But what about the academics who lend their voice in support of the latter? As far as Kim Tallbear’s “scholarship” (I hope I’m using quotations appropriately here) it resembles what I saw in Genetics and the Unsettled Past: The Collision of DNA, Race, and History. Basically an exercise in lexical obfuscation in the service of nebulous political aims, but clearly with direct consequences for the careers of a small set of academics who operate in an area where politics and activism blend seamlessly into their professional lives and their reputation among their peer groups.

Many of the assertions that Tallbear and company make about science are not totally unreasonable on the face of it. Science is a human enterprise, and scientists bring their own biases, ideologies, and interests into the execution of their endeavours. To some extent science is subjective, insofar as humans are making the judgements. But when you see where these practitioners of science studies take their project, you understand that they’re basically crazy. That is why people like Steve Fuller end up making apologia for Intelligent Design. And that is why Kim Tallbear can boldly analogize scientists to Christian missionaries. There’s simply no acknowledgement of something I like to call objective reality, so they go straight for the most provocative rhetorical tacks to hammer home their polemic.

Higher_SuperstitionHere is an indisputable fact: science is not religion, and the two are very different enterprises. If you don’t accede to this distinction, you have just lost all touch with the empirical world. It is no surprise that Phillip E. Johnson, the doyen of the Intelligent Design movement, has acknowledged a debt to critical theory. The flight from empiricism is exactly what has occurred to many scholars within science studies, probably because that’s where the career incentives are. Instead of actually pursuing a sociology of science*, they just slot science into the theoretical framework of critical theory, postcolonial studies, Marxist analysis, etc. etc., and generate out their truths deduced from a priori in a stream of prolix papers and prose whose primary purpose is to be read by a few other fellow travellers.

Kim Tallbear is really no different form Steve Fuller insofar as she’s acting as an apologist for Creationism, though a different sort from the Christian one. If Christians made the same arguments as Native American spokespersons in relation to these topics there’s no doubt that scientists would react caustically. But Native Americans are a disadvantaged group, and so the skeptical acid which scientists normally reserve for pre-scientific beliefs is withheld in this case (among social justic types this would be “punching down,” though in this case I think some punching is justified). That’s an empirical sociological fact. But, that doesn’t negate the reality that the scientists are right, and indigenous religious traditions which contradict the idea of migration via Beringia are wrong (as are some of the naive ideas about Native Americans being of the lost tribes of Israel, which was a common belief in 19th century America, and has come down in an evolved form within the Mormon religion). And I don’t mean “right” and “wrong.” I mean right and wrong. Like 0 and 1. Black and white. That’s because positivist science illustrates that social and linguistic ideological construction of the world around us runs up against the boundaries of the fact that the world has patterned and structured order which runs in contravention of human intuitions and biases. Most academics who are skeptical of the “objective” “truth” “claims” of “science” also agree with this fact when they have to put their choices where they mouth is. If they’re diagnosed with “cancer” they won’t put chemotherapy in quotations or demand the services of a tribal shaman. It’s going to be the best science for them and their family. That’s not just a theory, that’s a fact.

* Some scholars do do this, but it’s hard.

Addendum: An interesting sidenote is that the solicitation of many American scientists toward indigenous people in North America is itself an ideological orientation. As an example, many Asian Indians are not very happy with the latest results coming out of human genetics because it conflicts with their religious-social beliefs, but generally this is not much on the radar of researchers who are opining about the genetic history of these billion or so people.

 
• Category: Ideology, Science • Tags: DNA, Genomics, Native Americans 
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James C. Chatters 2002 book

James C. Chatters 2002 book

By now you may have read the breaking news in The Seattle Times that Eske Willerslev’s group is going to publish genetic results on Kennewick Man. This “scoop” was obtained through the freedom of information act, which makes sense since Kennewick Man has been embroiled in political controversy since the beginning of its discovery by James Chatters in the 1990s. The issue is that morphologically the remains were not typical of contemporary Native Americans, which might cause some doubt as to the legitimacy of the social-political rights of the indigenous people of the region today. The social-political aspects have been beaten to death, and I am not particularly interested in that area. Rather, the science is more fascinating, if, somewhat less surprising in light of the results that are going to come out in the near future.

2019387254The most famous reconstruction of Kennewick Man is strange because it resembles British actor Patrick Stewart. Humans use phenotypes, morphology, to ascertain genetic relatedness when DNA is not available. In the 1990s DNA was not available. The inference by many researchers who had access to the remains was that Kennewick Man was different because his morphology may have resembled a person of European heritage. The controversy turned into such a circus that somehow Steve McNallen, arguably America’s foremost Northern European neo-pagan expositor, made claims on the remains on the same grounds as Native American people! Later scholars suggest that perhaps Kennewick Man was not so much European, as not typical of contemporary Native Americans (e.g., perhaps he was part of an early migration of basal East Eurasians related to the Jomon of Japan).

41VAznr2aiL._SX258_BO1,204,203,200_ If the Seattle Times report is correct, and I believe it is, Kennewick Man is part of the ancestral population to modern Native Americans. This should put to bed most of the political debate, since the results are likely to mollify many Native activists. But, there are still details to be fleshed out. A 2012 publication suggests that there was a secondary migration out of Eurasia, which resulted in the Na-Dene group which is common in the northern and western portions of North America. In contrast, Kennewick Man is likely to belong to the first ur-North Americans, who arrived as a relatively small population from Berengia ~15,000 years ago. This is the overwhelming majority of indigenous ancestry, and south of the Rio Grande basically the totality.*

Due for an update!

Due for an update!

The context here is important. One insight of modern ancient DNA is that there has been a great deal of population turnover over the past ~10,000 years, as well as admixture between disparate lineages. When Kennewick Man died ~9,000 years ago Europeans as we understand them did not exist genetically. All across Eurasia, Africa, and Oceania, the Holocene brought radical demographic turnover (with some exceptions such as the Andaman Islands and the deserts of southwest Africa). The New World was somewhat different, as I implied above. There were some demographic disruptions, but south of the Rio Grande, and across the eastern half of North America, the populations descend from a relatively homogeneous founder stock which arrived at the end of the Pleistocene. The fact that many remains seem “atypical” for the morphology of Native Americans is strong evidence of in situ evolution.**

Years ago a physical anthropologist told me that when you look at Amazonian natives they “looked” like Siberians. Yes, they had changed and adapted, but only somewhat. It illustrated to me the powerful constraint of limited genetic variation upon populations. Similarly, though there is variation in pigmentation among native populations in the New World, it is far less than you see in the Old World. Why? Perhaps it is a function of different (or lack thereof) of selective pressures. Or, perhaps the variation wasn’t there for selection in the first place? The history of the Old World has jumbled all our easy narratives. The New World may actually be a godsend because of the simple elegance of its demographic history.

* From my Twitter exchanges with Pontus Skoglund I believe there is some population structure in the founding “First American” group, though not a great deal.

** Admixture is an issue, but that can be obviated by genetic testing, as well as looking at early modern remains.

 
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220px-Patrick_Stewart_Met_Opera_2010_Shankbone In the 1990s there was an enormous controversy over a Native American skeleton which was termed “Kennewick Man”. Most of the dispute was rooted in the fact that the morphological characteristics of the remains did not resemble modern indigenous peoples. In fact, the features may have been more European-like, with reconstructions tending toward uncanny resemblances to the actor Patrick Stewart. A new paper in Science purports resolve this question, Late Pleistocene Human Skeleton and mtDNA Link Paleoamericans and Modern Native Americans. Here’s the key section from the abstract:

…This skeleton dates to between 13,000 and 12,000 calendar years ago and has Paleoamerican craniofacial characteristics and a Beringian-derived mitochondrial DNA (mtDNA) haplogroup (D1). Thus, the differences between Paleoamericans and Native Americans probably resulted from in situ evolution rather than separate ancestry.

First, I think the sequencing of the Clovis child actually clinched the model that the Paleo-Indians are the ancestors of modern native people. Instead of one mitochondrial lineage, they had reasonable depth on the whole genome. This paper is really more interesting for the archaeological component. The question to me is why people seem to think that populations couldn’t have evolved in situ over ~10,000 years? This is a matter of priors, how common is morphological transformation, and how fast can it occur?

As it is I think the question in regards to the Paleo-Indians was more straightforward than people wanted to accept. The Ainu of Japan exhibited the same morphological differentiation from other Northeast Asians as the Paleo-Indians, to the point where many posited that they were more closely related to Europeans. Nevertheless even early blood group analysis pinpointed that their nearest relations were other Siberian groups. Morphological patterns are obviously informative. But one reason that they’re interesting is that they vary between populations, and that variation suggests a certain level of evolutionary pliability. One of the ironies of traits which we use to differentiate populations, such as skin color and facial features, is that these might actually have relatively shallow time depth within a given lineage.

 
• Category: Science • Tags: Native Americans 
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Sometimes science turns out as you’d expect. It’s not revolutionary, but it solidifies what should already be a solid foundation basis for extending knowledge into new territories. The latest ancient genome paper, The genome of a Late Pleistocene human from a Clovis burial site in western Montana, does just that. As the media has correctly pointed out this is probably the end of the Solutrean hypothesis, and a host of other exotic explanations for the ethnogenesis of Native Americans. Rather, the truth is what we’d always assumed. On the order of ~15,000 years ago a small group of Siberians crossed over Berengia into the New World. Their descendants are the various indigenous populations of the Americas which span the expanse from the Canadian Arctic down to Patagonia.

A reader did ask if this had any relevance for the thesis proposed in Reconstructing Native American History, that there was an initial “First American” migration wave, and later a Na-Dene incursion from Siberia (the distinct nature of Eskimo-Aleut populations seems clear). Though they were not particularly explicit about it, it seems that the authors of this paper accede that these results are consistent with the earlier model, insofar as their Clovis sample seems to exhibit a greater affinity with South American populations than nearby Canadian ones. Why? One explanation could be that some admixture occurred in much of North America after the Clovis due to the arrival of the Na-Dene.

The final point of interest, as pointed out by Dienekes, is that there’s still a lacunae of data from the United States. But then that’s a matter of politics. It seems unlike that other nations will fund research on our indigenous people, not to mention laws which put a damper on examination of Native American remains. But in the end it will only put off the inevitable. And what wonders if the authors had found out that the Clovis boy did not match modern Native Americans. They’d be famous, but surely they’d receive flack from many Natives.

Update: Pontus Skoglund corrected me on Twitter, and explained that it looks like the Clovis affinity to South Americans is due not to Na-Dene admixture, but structure among First Americans. That is, by the time of the Clovis period the First Americans had either diverged enough from each other to have discernible structure, or, they had manifested substructure within Beringia or migrated out in a few pulses.

 
• Category: Science • Tags: Native Americans 
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A new press release is circulating on the paper which I blogged a few months ago, Ancient Admixture in Human History. Unlike the paper, the title of the press release is misleading, and unfortunately I notice that people are circulating it, and probably misunderstanding what is going on. Here’s the title and first paragraph:

Native Americans and Northern Europeans More Closely Related Than Previously Thought

Released: 11/30/2012 2:00 PM EST
Source: Genetics Society of America

Newswise — BETHESDA, MD – November 30, 2012 — Using genetic analyses, scientists have discovered that Northern European populations—including British, Scandinavians, French, and some Eastern Europeans—descend from a mixture of two very different ancestral populations, and one of these populations is related to Native Americans. This discovery helps fill gaps in scientific understanding of both Native American and Northern European ancestry, while providing an explanation for some genetic similarities among what would otherwise seem to be very divergent groups. This research was published in the November 2012 issue of the Genetics Society of America’s journal GENETICS

 

The reality is ta Native Americans and Northern Europeans are not more “closely related” genetically than they were before this paper. There has been no great change to standard genetic distance measures or phylogeographic understanding of human genetic variation. A measure of relatedness is to a great extent a summary of historical and genealogical processes, and as such it collapses a great deal of disparate elements together into one description. What the paper in Genetics outlined was the excavation of specific historically contingent processes which result in the summaries of relatedness which we are presented with, whether they be principal component analysis, Fst, or model-based clustering.

What I’m getting at can be easily illustrated by a concrete example. To the left is a 23andMe chromosome 1 “ancestry painting” of two individuals. On the left is me, and the right is a friend. The orange represents “Asian ancestry,” and the blue represents “European” ancestry. We are both ~50% of both ancestral components. This is a correct summary of our ancestry, as far as it goes. But you need some more information. My friend has a Chinese father and a European mother. In contrast, I am South Asian, and the end product of an ancient admixture event. You can’t tell that from a simple recitation of ancestral quanta. But it is clear when you look at the distribution of ancestry on the chromosomes. My components have been mixed and matched by recombination, because there have been many generations between the original admixture and myself. In contrast, my friend has not had any recombination events between his ancestral components, because he is the first generation of that combination.

So what the paper publicized in the press release does is present methods to reconstruct exactly how patterns of relatedness came to be, rather than reiterating well understood patterns of relatedness. With the rise of whole-genome sequencing and more powerful computational resources to reconstruct genealogies we’ll be seeing much more of this to come in the future, so it is important that people are not misled as to the details of the implications.

(Republished from Discover/GNXP by permission of author or representative)
 
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Dienekes, in response to Living Anthropologically, Petty identity politics indeed, or, holding a grudge is no excuse for anti-science:

I won’t argue about the veracity or details of this version of history, but surely native Americans from the US were not especially mistreated compared to other people colonized by Europeans?

I mean, there are now samples from Native Australians, East Indians, Sub-Saharan Africans, Native Americans from all over the Americas except the US. Why don’t all these people not “hold a grudge” for their bad treatment at the hands of Europeans, but, apparently, are perfectly willing to participate in genetic research if it’s explained to them how they might learn more about their ancestors from it?

And, why limit ourselves to people colonized by Europeans? Surely, Slavs, for example, have a lot of things to say about German Rassenkunde scientists belittling them, studying their skulls to “prove” they are an inferior race, and hatching up and executing plans for their annihilation. So, why do the Russians give the Denisova fingerbone to ze Max Planck folks to study, or allow them to study ancient DNA from all over their territory?

Scour the literature for a while, and you’ll find plenty of (modern) Germans studying Jews, and Jews studying pretty much everybody, including many not-so-friendly Muslim populations. You’ll find Russians too, studying all the subjugated ethnic groups of their former Empire, and plenty of Han Chinese scientists studying some of the 57 ethnic groups of their country. You’ll find Serbs and Turks forgetting about the Battle of Kosovo or the Balkan Wars to participate in joint research about the origins of the Neolithic. You’ll find Roma and Saami being studied by their native European “oppressors.”

And, how about those African Americans whose ancestors were dragged across the Atlantic in chains, and forced to work as slaves, surely they have as good a reason, if not better, to be suspicious of being made an object of study by people outside their community? But, last time I checked, there were plenty of studies on that population, informing them about the sources of their African ancestors and the timing and extent of admixture with their European ones.

In short: you’ll find plenty of groups with historical or even contemporary sources of conflict setting aside their differences in the interest of science.

The anti-scientific attitude of certain Native American groups cannot be ascribed to a history of oppression or conflict with the ancestors of the scientists wishing to study them. And, indeed, if Native Americans were once oppressed by the Palefaces, why don’t they let themselves be studied by Chinese or Japanese researchers, or indeed by their own scientists: there are Native American geneticists after all!

Much of the argument outlined here anticipated what I immediately thought when I read the first few sentences of the post. I don’t deny that in the past scientists behaved unethically. But the experiences of Native Americans are not sui generis. Let’s be honest here and admit that politics is the primary force driving this particular behavior. There are surely many people of all groups who are not especially interested in or sympathetic to scientists treating them as objects of study. But only some groups have collective recognition of the kind which results in the veto of study participation of even of a minority.

Also, did anyone else notice that the paper out of Broad explicitly discussed Native Americans, which is an American appellation most commonly, but lacked any American native samples? I think the results are robust, but it’s rather like inferring the demographic history of Germans by looking at Austrians, Alsatians, Danes, and Dutch. Reminds me of the use of Pakistanis in the HGDP because the Permit Raj prevented sampling of Indians.

(Republished from Discover/GNXP by permission of author or representative)
 
• Category: Science • Tags: Anthropology, Native Americans 
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By now you have read that the Clovis people may have had contemporaries. In case you didn’t know, until about ~10 years the “standard model” of the peopling of the Americas was that around ~13,000 years ago one single population crossed into the New World via Beringia, and rapidly swept north to south in ~1,000 years. These were the Clovis people, associated with a particular toolkit, and perhaps implicated in megafaunal extinctions. Today this model is no longer held to be sacrosanct, though no clear successor has emerged. It does seem likely that some sort of pre-Clovis population is presumed to exist. These data are interesting because they indicate that there may have been geographical structure in cultural forms even at this early stage in North America, implying that the original peopling of America was not homogeneous. That is, there may have been several founding groups.

I find this entirely plausible. It strikes me that a fear years ago a tendency toward rhetorical extremism occasionally found purchase when it came to the settlement of the peripheries of the human range, Oceania and the New World. Jared Diamond famously proposed that Australia and Papua may have been colonized by one pregnant woman! (presumably she then reproduced with her own son, as Gaia did with Uranus) In hindsight it seems more likely that migration of pre-modern humans was a far more organized affair, and not an ad hoc expansion in a state of anarchy, with family groups splitting off in a random fashion due to demographic pressures. Note that archaic humans did not settle Oceania and the New World, despite having a million years to do so.

Many researchers suppose that the ancestors of the First Americans sojourned in Berengia before they crossed over into the New World (their progress being blocked by glaciers). This may explain why genetic estimates of the populations’ origin tend to be deeper than the archaeological conclusions, even if you push the dates back due to Monte Verde. From the media reports archaeologists seem to be emphasizing that the original population which settled the New World may have been culturally diverse, even if they are genetically similar. Presumably this is a counterpoint to the paper which posits a “First American” group at the heart of the genomic variation of the New World groups.

First, let’s remember culture evolves fast. We know this intuitively. Second, culture can maintain a great deal of between group variation even if gene variation is minimal. One can imagine a few groups of Siberian tribes settling Berengia, and then becoming relatively isolated from their cousins to the west due to geographic barriers. At this point this genetic island would then start to shift toward homogenization of allele frequencies across these populations because of continuous gene flow. At some point in the future you might see little between population variation if you tested these groups. But it does not follow from this that cultural differences would disappear. Rather, they may be maintained despite gene flow. We see plenty of examples of this. In India speakers of Indo-Aryan and Dravidian languages which are geographically adjacent are only marginally different genetically. In Europe the Hungarians speak a very distinctive language, despite having a very uninteresting genetic profile. One can imagine a plausible scenario where an expansive Berengian landscape retains cultural diversity, perhaps due to ecological differences, but a long period of isolation in relation to the outside world, and close contact between Berengians, eliminates most major genetic differences across these groups.

L. L. Cavalli-Sforza was one of the first scholars to point out the genuine correspondences between language families and genetic variation. This was a step forward from the pre-World War II anthropologists, who simply assumed a correlation between genetic identity and linguistic identity, and the post World War II anthropologists who rejected any connection. The association is a real one, but we must always keep in mind the details of the differences in realized outcomes and process when comparing the two phenomena. Because of genetic variation’s reliance on Mendelian inheritance as well as dependence upon a relatively fixed number of parameters (e.g., drift and selection) it tends to differ in its long term arc of evolution from culture. Cultural variation is subject to the same parameters, but it is also more flexible and plastic, in ways that lead to both greater diversity and greater homogeneity (i.e., identity markers and human universals). Evolutionary genetics has the simplicity of physics in relation to evolutionary memetics.

 

We can not understand the peopling of the past without taking into account both genetic and cultural diversity, but the differences between the two processes always need to be kept in mind to produce a better map of reality as it was. This is probably a general point, which is too often forgotten, in part due to laziness, and the linguistic construction of ethnic identities, which elide the genetic and cultural.

(Republished from Discover/GNXP by permission of author or representative)
 
• Category: Science • Tags: Anthropology, Archaeology, Native Americans 
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ResearchBlogging.org That is the question, and tentatively answered in the affirmative according to a new paper in The American Journal of Physical Anthropology. A new subclade of mtDNA haplogroup C1 found in icelanders: Evidence of pre-columbian contact?:

Although most mtDNA lineages observed in contemporary Icelanders can be traced to neighboring populations in the British Isles and Scandinavia, one may have a more distant origin. This lineage belongs to haplogroup C1, one of a handful that was involved in the settlement of the Americas around 14,000 years ago. Contrary to an initial assumption that this lineage was a recent arrival, preliminary genealogical analyses revealed that the C1 lineage was present in the Icelandic mtDNA pool at least 300 years ago. This raised the intriguing possibility that the Icelandic C1 lineage could be traced to Viking voyages to the Americas that commenced in the 10th century. In an attempt to shed further light on the entry date of the C1 lineage into the Icelandic mtDNA pool and its geographical origin, we used the deCODE Genetics genealogical database to identify additional matrilineal ancestors that carry the C1 lineage and then sequenced the complete mtDNA genome of 11 contemporary C1 carriers from four different matrilines. Our results indicate a latest possible arrival date in Iceland of just prior to 1700 and a likely arrival date centuries earlier. Most surprisingly, we demonstrate that the Icelandic C1 lineage does not belong to any of the four known Native American (C1b, C1c, and C1d) or Asian (C1a) subclades of haplogroup C1. Rather, it is presently the only known member of a new subclade, C1e. While a Native American origin seems most likely for C1e, an Asian or European origin cannot be ruled out.

The core of the article treads the confusing gray zone between rock-hard precise science and the more vague and intuitive truths of history. One the rock-hard part, there is a huge literature on maternal genetic lineages, the mtDNA. Because this genetic material is copious it was some of the first to be analyzed using molecular clock models. A molecular clock is a feasible with mtDNA because it is haploid; it is only inherited through females and so is not subject to recombination which might break apart associations of distinctive genetic markers. Instead of being a reticulated mesh the genealogy of mtDNA is a clean and inverted elegant tree leading back to a common ancestress. You are finding the line of your mother’s mother’s mother’s mother’s….


But synthesizing this clarity with human history is more difficult, because we are dependent on the bias of text, and even more tendentious clues from oral history and archaeology. Because of Iceland’s Lutheran Christian heritage the maternal lineage here could be traced back to 1700. This does not mean that the first woman in the line that we know of was born like Athena from the head of her father; rather, the records were not kept well enough to continue unbroken back to the medieval era. We do know that the first permanent Norse settler in Iceland arrived in 874, and, that very few immigrants from Scandinavia added diversity to the gene pool after ~1000. Iceland is a small and poor island, so quickly reached its Malthusian maximum. How else to explain that Icelanders made a secondary migration to Greenland?

The most obvious explanation for the existence of the subclade of the C1 lineage is that it arrived recently. Without knowing anything else that is what you’d have assumed. But as noted above the individuals who carry it have been traced back to a common ancestor in the early 18th century; these are native Icelanders, at least if native means anything substantive. An second point which rejects recent injection of this lineage into the gene pool: the Icelanders are their own special branch of C1, C1e. The phylogenetic tree of C1 below illustrates the relationship of the branches to each other. Since the font is so small, I added in clarifying labels (from top to bottom it’s C1a to C1e, with further clades such as C1d1):

icetree1

As you can see, this is mostly an Amerindian clade, with some some Asians. But, by surveying the public data they did find two individuals who were European who carried possible C1e. I’ll quote:

…, using the criteria of one mutational difference from C1e when sequences were avail- able for only hypervariable segment 1 (HVS1) or 2 (HVS2) and two mutational differences when both HVS1 and HVS2 sequences were available. The result was a shortlist of 276 sequences that we suggest be checked first for C1e coding region mutations (Supp. Info. Table S3). We note that for the sequences for which geographical information is available, all but two were sampled from individuals with Native American ancestry—i.e. from the Canary Islands and Germany.

The German sequence…represents a perfect match to the Icelandic C1e for the short HVS1 fragment spanning sites 16024–16365. This raises the intriguing, but perhaps unlikely, hypothesis that C1e is a European-specific subclade of C1, following the precedent of the European and Native American subclades of mtDNA haplogroup X2…However, given the dense sampling of mtDNA variation in European populations, it is clear that C1e is exceedingly rare, a fact that weighs against a hypothesis of antiquity in Europe.

They believe that the Canary Islander is probably the result of admixture during the Spanish colonial era with someone who returned from the New World colonies. The German is the one to focus on. A plausible alternative model is that C1e is a very low frequency European lineage, which increased in frequency in Iceland simply through genetic drift because of that island’s small population. Remember that though C1e is rare in Iceland, its frequency is much higher than in Northern Europe as a whole. Though here we must be cautious because the typing was preliminary in the Germany case, the authors note that “This is because there are no other known human mtDNA sequences belong to C1e out of the 6747 complete sequences available in the literature.” Also, the authors observe that there is variation among the Iceland C1e lineages, mutations which differentiate them. This further tilts the playing field toward an early entrance of the lineage into Iceland, probably before Columbus, because a late arrival would not have had time to build up mutational variation in the region of Iceland where C1e is found.

572px-Bjork_and_the_Swan_DressAs this subclade is absent among Native Americans, you may wonder as to a relationship to Greelanders or Inuit. The larger C1 haplogroup as a whole is not evident in these populations. You can inspect the geographical distribution closer yourself. If this woman was a non-European, she was not maternally related to the peoples who replaced the Norse in Greenland. Though we should also be careful about assuming that the present genetic variation in the American Arctic is representative of pre-modern variation.

If the Greenland and ancient European hypotheses are rejected, what we have is a woman who entered the Icelandic society from an extinct lineage of Native Americans, probably from the northeast (or perhaps her Greenland Norse mother was of this line). What the Norse would have termed Markland. It is tempting to point to the Norse settlement at L’Anse aux Meadows in Newfoundland. Perhaps the Europeans had enslaved a native woman, and taken her back to their homeland when they decamped? But more likely to me is the probability that the Norse brought back more than lumber from Markland, since their voyages spanned centuries.

Finally, does this explain Bjork? I doubt it. A minority of Scandinavians, especially ones of Sami background, exhibit an “Asiatic” cast to their features. The autosomal genomic content of the Icelanders is what you’d expect, Scandinavian leavened with British, and twisted with their own particular history of population bottlenecks. Only the precision of mtDNA typing brought the reality of the woman who carried C1e into the light. In terms of total genome content she is one of tens of thousands of ancestors to any given descendant, and she may be one of the less common ones in the family trees because of her likely lower status. Though the flip side of the nature of mtDNA, and the inbred aspect of the Iceland pedigree, is that probably all native Icelanders can draw many lines of descent to this woman.

Citation: Ebenesersdóttir SS, Sigurðsson A, Sánchez-Quinto F, Lalueza-Fox C, Stefánsson K, & Helgason A (2010). A new subclade of mtDNA haplogroup C1 found in icelanders: Evidence of pre-columbian contact? American journal of physical anthropology PMID: 21069749

Image Credit: Cristiano Del Riccio

(Republished from Discover/GNXP by permission of author or representative)
 
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Razib Khan
About Razib Khan

"I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. If you want to know more, see the links at http://www.razib.com"