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For various reasons the idea of mitochondrial Eve and Y chromosomal Adam capture the public imagination. This frustrates many people, including me. I’ve gotten into the fatigue stage on this topic, but some sort of counter-attack is necessary against malignant memes. Even geneticists who don’t usually work with populations can get confused by the implications of mtDNA and Y chromosomal phylogenies. Melissa Wilson Sayres, who works on Y chromosomes, has a useful post (promised first of two) at Panda’s Thumb, Y and mtDNA are not Adam and Eve: Part 1. If you have friends/acquaintances who are confused by this issue, it might be a good place to start.

Much of the discussion around this topic was triggered by the recent paper in Science, Sequencing Y Chromosomes Resolves Discrepancy in Time to Common Ancestor of Males Versus Females. As Graham Coop observed on Twitter the idea of a “discrepancy” is not clear, insofar as it would not be that surprising if the last common ancestor of the extant Y chromosomal lineages existed at a different time than the last common ancestor of the mtDNA lineages. Expected coalescence is contingent upon various population genetic parameters such as effective population size, but expectations are also subject to variation in realized outcomes. And, as Sayres observes the references to the Adam & Eve analogy were present within the paper, fueling the fire. Finally, the reference to “dogma” tagged onto the end struck me as a touch too cute.

(Republished from Discover/GNXP by permission of author or representative)
• Category: Science • Tags: Adam, Eve, Human Genetics, Human Genomics, MTDNA, Y Chromosome 
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The new article in The American Journal of Human Genetics, A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root, is open access, so you should check it out. The discussion gets to the heart of the matter:

Supported by a consensus of many colleagues and after a few years of hesitation, we have reached the conclusion that on the verge of the deep-sequencing revolution…when perhaps tens of thousands of additional complete mtDNA sequences are expected to be generated over the next few years, the principal change we suggest cannot be postponed any longer: an ancestral rather than a “phylogenetically peripheral” and modern mitogenome from Europe should serve as the epicenter of the human mtDNA reference system. Inevitably, the proposed change could raise some temporary inconveniences. For this reason, we provide tables and software to aid data transition.

What we propose is much more than a mere clerical change. We use the Ptolemaian geocentric versus Copernican heliocentric systems as a metaphor. And the metaphor extends further: as the acceptance of the heliocentric system circumvented epicycles in the orbits of planets, switching the mtDNA reference to an ancestral RSRS will end an academically inadmissible conjuncture where virtually all mitochondrial genome sequences are scored in part from derived-to-ancestral states and in part from ancestral-to-derived states. We aim to trigger the radical but necessary change in the way mtDNA mutations are reported relative to their ancestral versus derived status, thus establishing an intellectual cohesiveness with the current consensus of shared common ancestry of all contemporary human mitochondrial genomes.

Note that the problem is not restricted to mtDNA. Indeed, in the much larger perspective of complete nuclear genomes in which comparisons are often currently made relative to modern human reference sequences, often of European origin, it seems worthwhile to begin considering, as valuable alternatives, public reference sequences of ancestral alleles (common in all primates) whereby derived alleles (common to some human populations) would be distinguished.

Perhaps the first generation or so of human molecular evolutionary genetics might be thought of as a “first draft.” A serviceable first draft which rendered in broad strokes the gist of the truth as we understand it, but lacking in some essential details.

On a minor note, there are some theoretical reasons why mtDNA did not yield much evidence for archaic admixture, which is clear in the nuclear genomics (e.g., higher rate of change due to lower effective population size, so more rapid extinction of ancient lineages). But perhaps now that the number of complete mtDNA genomes is increasing in size we might start to see “long branches,” which reflect the inferences generated from the ancient nuclear genomes.

(Republished from Discover/GNXP by permission of author or representative)
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The latest edition of The American Journal of Human Genetics has two papers using “old fashioned” uniparental markers to trace human migration out of Africa and Siberia respectively. I say old fashioned because the peak novelty of these techniques was around 10 years ago, before dense autosomal SNP marker analyses, let alone whole genome sequencing. But mtDNA, passed down the maternal line, and Y chromosomes, passed from father to son, are still useful. Prosaically they’re useful because the data sets are now so large for these sets of markers after nearly 20 years of surveying populations. More technically because these two regions of the genome do not recombine they lend themselves to excellent representation as a tree phylogeny. Finally, mtDNA in particular is particularly amenable to estimates via molecular clock methodologies (it has a region with a higher mutational rate, so you can sample a larger range of variation over a given number of base pairs; you can use STRs, which mutate rapidly, for Y chromosomes, but there seems to be a lot of controversy in dating).

The papers are The Arabian Cradle: Mitochondrial Relicts of the First Steps along the Southern Route out of Africa and Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians. Dienekes has already commented on the first paper. I am not going to take a detailed position on either, but I have to add that we need to be very careful of extrapolating from maternal or paternal lineages, and, assuming that population turn over is low enough that we can make phylogeographic inferences about the past from the present. For example, if you look at mtDNA South Asians as a whole strongly cluster with East Asians and not Europeans, while if you look at Y chromosomes you see the reverse. The whole genome gives a more mixed picture. Additionally, ancient DNA analyses in Northern Eurasia are showing strong discontinuities between past and present populations. So coalescence back to last common ancestor between two different lineages in two different regions may actually be due to diversity in a common source population more recently, which entered into demographic expansion and replaced other groups.

If you need the papers, email me. Some of you know the alphabet soup of haplogroups better than I do. Below are two figures which I think give the top line results.

(Republished from Discover/GNXP by permission of author or representative)
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Back when this sort of thing was cutting edge mtDNA haplogroup J was a pretty big deal. This was the haplogroup often associated with the demic diffusion of Middle Eastern farmers into Europe. This was the “Jasmine” clade in Seven Daughters of Eve. A new paper in PLoS ONE makes an audacious claim: that J is not a lineage which underwent recent demographic expansion, but rather one which has been subject to a specific set of evolutionary dynamics which have skewed the interpretations due to a false “molecular clock” assumption. By this assumption, I mean that mtDNA, which is passed down in an unbroken chain from mother to daughter, is by and large neutral to forces like natural selection and subject to a constant mutational rate which can serve as a calibration clock to the last common ancestor between two different lineages. Additionally, mtDNA has a high mutational rate, so it accumulates lots of variation to sample, and, it is copious, so easy to extract. What’s not to like?

First, the paper, Mutation Rate Switch inside Eurasian Mitochondrial Haplogroups: Impact of Selection and Consequences for Dating Settlement in Europe:

R-lineage mitochondrial DNA represents over 90% of the European population and is significantly present all around the planet (North Africa, Asia, Oceania, and America). This lineage played a major role in migration “out of Africa” and colonization in Europe. In order to determine an accurate dating of the R lineage and its sublineages, we analyzed 1173 individuals and complete mtDNA sequences from Mitomap. This analysis revealed a new coalescence age for R at 54.500 years, as well as several limitations of standard dating methods, likely to lead to false interpretations. These findings highlight the association of a striking under-accumulation of synonymous mutations, an over-accumulation of non-synonymous mutations, and the phenotypic effect on haplogroup J. Consequently, haplogroup J is apparently not a Neolithic group but an older haplogroup (Paleolithic) that was subjected to an underestimated selective force. These findings also indicated an under-accumulation of synonymous and non-synonymous mutations localized on coding and non-coding (HVS1) sequences for haplogroup R0, which contains the major haplogroups H and V. These new dates are likely to impact the present colonization model for Europe and confirm the late glacial resettlement scenario.

John Hawks has written at length of the possible distortions that selection might produce in our understanding of the history of mtDNA lineages, and therefore our understanding of the history of the population groups which these genealogies are used as proxies for. So I won’t review that much. I find the dynamics that they’re detecting possible, even plausible. But I don’t see why the authors having introduced skepticism start to conjure up positive visions of what is the true nature of the demographics which underpin these mtDNA phylogenies, now that they’ve “corrected” for variation in the power of the molecular clock to let use look through the glass clearly.

Readers with more fluency in the mtDNA literature can probably pick it apart. At the end of the day I’m always wondering what do the subfossils tell us? In other words, ancient DNA. Inferences from contemporary populations have been a total hash at a finer grain than that of continents, so you probably shouldn’t rest on that leg alone.

Finally, I thought this paper was of interest because it’s an inversion of R1b1b2. That’s a Y chromosomal haplogroup which was once presumed to be Paleolithic but now seems likely to be Neolithic. These authors are claiming that a mtDNA haplogroup which was once presumed to be Neolithic is actually Paleolithic. All this I think indicates that we should be modulating outward our error bars whenever we make assertions based on uniparental data with any time depth and below a very coarse level of spatial granularity.

(Republished from Discover/GNXP by permission of author or representative)
🔊 Listen RSS In light of my last post I had to take note when Dienekes today pointed to this new paper in the American Journal of Physical Anthropology, Population history of the Red Sea—genetic exchanges between the Arabian Peninsula and East Africa signaled in the mitochondrial DNA HV1 haplogroup. The authors looked at the relationship of mitochondrial genomes, with a particular emphasis upon Yemen and the Horn of Africa. This sort of genetic data is useful because these mtDNA lineages are passed from mother to daughter to daughter to daughter, and so forth, and are not subject to the confounding effects of recombination. They present the opportunity to generate nice clear trees based on distinct mutational “steps” which define ancestral to descendant relationships. Additionally, using neutral assumptions mtDNA allows one to utilize molecular clock methods to infer the time until the last common ancestor of any two given lineages relatively easily. This is useful when you want to know when a mtDNA haplgroup underwent an expansion at some point in the past (and therefore presumably can serve as a maker for the people who carried those lineages and their past demographic dynamics).

What did they find? Here’s the abstract:

Archaeological studies have revealed cultural connections between the two sides of the Red Sea dating to prehistory. The issue has still not been properly addressed, however, by archaeogenetics. We focus our attention here on the mitochondrial haplogroup HV1 that is present in both the Arabian Peninsula and East Africa. The internal variation of 38 complete mitochondrial DNA sequences (20 of them presented here for the first time) affiliated into this haplogroup testify to its emergence during the late glacial maximum, most probably in the Near East, with subsequent dispersion via population expansions when climatic conditions improved. Detailed phylogeography of HV1 sequences shows that more recent demographic upheavals likely contributed to their spread from West Arabia to East Africa, a finding concordant with archaeological records suggesting intensive maritime trade in the Red Sea from the sixth millennium BC onwards. Closer genetic exchanges are apparent between the Horn of Africa and Yemen, while Egyptian HV1 haplotypes seem to be more similar to the Near Eastern ones.

Much of this is totally concordant with the results we’ve generated from the autosomal genome. Though the autosomal genome is much more difficult when it comes to implementing many of the tricks & techniques of phylogeography outlined above, it does offer up a much more robust and thorough picture of genetic relationships between contemporary populations. Instead of a a distinct and unique line of paternal or maternal ancestry, thousands of autosomal SNPs can allow one t o get a better picture of the nature of the total genome, and the full distribution of ancestors.

The map to the left shows the spatial gradients of the broader haplogroup under consideration, HV1. But what about the branches? Below is an illustration of the phylogenetic network of branches of HV1, with pie-charts denoting the regional weights of a given lineage:

Since the shading is so difficult, let me jump to the text:

…Curiously, the HV1 root haplotype with substitution at position 16,067 was not observed in the Arabian Peninsula except in four Yemeni Jews, but was observed in 11 Caucasus, four Egyptian, one European, two Maghreb, and six Near Eastern samples, thus supporting a possible origin in the Near East. Haplotype 16,067–16,362, possibly defining a pre-HV1 haplogroup, has so far been observed in Dubai (one), Ethiopia (four), Maghreb (one), and Yemen (three)….

I think you have be very, very, careful to not read too much into mtDNA lineage distributions and what they may tell you about the past, at least in and of themselves. With the rise of ancient DNA and deeper analyses of mtDNA sequences as well as better geographical coverage many of the inferences of the last 10 years are being radically revised. But, combined with the autosomal results the origin of these mtDNA haplogroups in the Middle East within the last ~10 thousand years seems eminently possible.

Finally, here are their time until the most recent common ancestor estimates:

…The TMRCA estimate for HV1 was 22,350 (14,737–30,227) years when taking into consideration the sequences without the polymorphism at 15,218—a figure which closely matches the estimate of 18,695 (13,094–24,449) years when not considering those two sequences. The control region age estimate of HV1 also presents a similar age, dating to 19,430 (6,840–32,023) years. Age estimates of HV1 daughter sub-haplogroups are only slightly lower—15,178 (8,893–21,671) years for HV1a and 17,682 (10,320–25,316) years for HV1b. The common Arabian Peninsula and East African sub-haplogroups HV1a3 and HV1b1 share a close age of 6,549 (2,456–10,746) years and 10,268 (4,792–15,918) years, respectively. Sub-haplogroups HV1a1 and HV1a2, which despite being rare seem to have a wider geographical distribution, have TMRCA of 10,268 (3,602–17,194) years and 9,518 (3,963–15,255) years, respectively. The ratio of the dates based on the ρ statistic for the synonymous clock relative to the complete sequence was 1.24, closely overlapping in most branches except for HV1a1 which has a very broad age estimate based only on synonymous diversity [23,616 (4,917–42,315) years]….

The confidence intervals on these estimates are really large. All you can say with a high degree of certainty is that the expansion of the family of HV1 haplogroups does not predate the Last Glacial Maximum, 15 to 20 thousand years ago. Many of the daughter branches seem to have emerged in the Holocene, possibly after the rise of agriculture. But with the huge possible set of ranges these temporal estimates come close to offering up pretty much zero additional clarity on the chronology of population dynamics in this region .

Readers might also be interested this from last January, Internal Diversification of Mitochondrial Haplogroup R0a Reveals Post-Last Glacial Maximum Demographic Expansions in South Arabia (with some of the same authors). One aspect of these sorts of papers working with mtDNA is that they remain generally oriented toward the proposition that Pleistocene population structure is extremely important in predicting contemporary patterns of genetic variation. I’m not sure this is such a robust model. The autosomal and uniparental data from Ethiopia and Somalia strongly leans us toward the proposition of admixture of two very distinct populations, one in East Africa (“Ancestral East Africans”), and Eurasian group which are likely to have been intrusive. The genetic distance between the Eurasian inferred ancestral component, which is nearly identical to that of southern Arabia, and other Eurasian components is not so large that it seems plausible that there could have a separation during the Pleistocene. In other words, there was a lot of Holocene migration. If I had to guess I would say it had something to do with the agricultural and pastoral lifestyles brought by Arabians to the Horn of African within the last 10,000 years. Simple ecology imposed a limit upon the expansion of these peoples into more classical lush tropical Africa. Eventually a population did emerge to exploit these territories, Bantus from west-central Africa. Just like the Arabian-AEA hybrid population they encountered ecological, and also demographic, limits on the margins of the Semitic and Cushitic dominated territories in the Horn of Africa. And then of course there are the Nilotes….

Citation: Musilová, Eliška, Fernandes, Verónica, Silva, Nuno M., Soares, Pedro, Alshamali, Farida, Harich, Nourdin, Cherni, Lotfi, Gaaied, Amel Ben Ammar El, Al-Meeri, Ali, Pereira, Luísa, & Černý, Viktor (2011). Population history of the Red Sea—genetic exchanges between the Arabian Peninsula and East Africa signaled in the mitochondrial DNA HV1 haplogroup American Journal of Physical Anthropology : 10.1002/ajpa.21522

(Republished from Discover/GNXP by permission of author or representative)
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Mr. James Winters at A Replicated Typo pointed me to a short hypothesis paper, Neanderthal-human Hybrids. This paper argues that selective mating of Neandertal males with females of human populations which had left Africa more recently, combined with Haldane’s rule, explains three facts:

- The lack of Neandertal Y chromosomal lineages in modern humans.

- The lack of Neandertal mtDNA lineages in modern humans.

- The probable existence of Neandertal autosomal ancestry in modern humans.

If you don’t know, Haldane’s rule basically suggests that there’s going to be some sort of breakdown in the heterogametic sex. In humans females are homogametic, XX, and males are heterogametic, XY. The breakdown need not be death (or spontaneous abortion). It could be sterility (e.g., some mutation or genetic incompatibility which results in the malfunctioning of the flagella of sperm would do it).

So you have a scenario where only Neandertal males are interbreeding with the intrusive groups from the south. The hybrids from these pairings would then lack Neandertal mtDNA, since mtDNA is passed only from mothers. But the male offspring would have Neandertal Y chromosomes. This is where Haldane’s rule kicks in: these males in their turn would not reproduce. Therefore only the female hybrids would pass on their genes. These females obviously don’t pass on a Y chromosome. And, they would pass on their non-Neandertal mother’s mtDNA.

Obviously this makes logical sense. How plausible do I judge it? That depends on the other options and the probabilities in the moving parts of the model above. My main issue with the idea of Haldane’s rule being operative in Neandertal-non-Neandertal pairings is this: the two lineages had not been separated for very long at all. The authors give ~250,000 years for the most recent common ancestor. Let’s just double that. That still isn’t that big of a divergence. A few years ago I read some stuff on hybridization in mammals. There’s some pretty straightforward reasons having to do with gestation why this is more of an issue in our lineage than birds, for example, where you have instances of viable crosses between species whose last common ancestor lived tens of millions of years in the past. But that doesn’t speak to the issue of Haldane’s rule necessarily. The problems with interfertility tend to crop up on the order of millions of years, not hundreds of thousands.

In any case, what about the alternatives? There could have been some sort of selective bias against mtDNA and Y chromosomal lineages. This can be straightforward biological. Imagine that Neandertal mtDNA is correlated with some diseases with reduce fitness. The authors allude to this sort of issue. But it might be social. Across Latin America there has been wholesale replacement of Amerindian Y chromosomal lineages among mixed-race populations. In fact you have replications across many societies of European Y chromosomal lineages + non-European mtDNA lineages being dominant, with variation in autosomes (e.g., in Mexico the autosome is balanced, in Argentina it is mostly European). There is also the issue that mtDNA and Y chromosomal lineages are subject to more vigorous stochastic dynamics because of smaller effective population sizes than autosomes. Autosomes are a combination of both parental contributions, but the uniparental lineages are passed from only one. Males are a total dead end in regards to the propagation of mtDNA lineages since they do not pass them on, while females naturally do not have a Y chromosome. The Neandertal mtDNA and Y lineages may simply have gone extinct, which is more probable if they were a small minority in the human population ~30,000 years before the present (the probability that a lineage with “fix” and replace all others is proportional to its frequency at time t = 0).

But really the main issue here for me really is the plausibility of hybrid incompatibility between Neandertals and non-Neandertals. This was a common idea a few years ago before the evidence for Neandertal-non-Neandertal admixture, and I’d started to get skeptical of it based on comparisons to other mammals. But now we have more thorough genetic data. To the left is a table from the supplement of Genetic history of an archaic hominin group from Denisova Cave in Siberia. It is showing the time since the last common ancestors between pairs of populations (F = French, the rest of the rows are the same as the columns). I wouldn’t take the dates that seriously. What I want to point out is that the last common ancestor between Neandertals and other human populations isn’t even a multiplicative factor greater than that between Africans and non-Africans. These particular estimates might be wrong in the details of their magnitude, but I think before we assent to the probability of hybrid incompatibilities we need to consider the high likelihood that Neandertals just weren’t nearly as different as we might think, or have thought.

The following video is for entertainment purposes only:

(Republished from Discover/GNXP by permission of author or representative)
🔊 Listen RSS 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):


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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Last week Nature published a paper which may have found a new ‘branch’ of the hominin evolutionary bush which may have been coexistent which modern humans and Neandertals. I recommend The Atavism, Carl and John Hawks on this story. Interesting times.

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

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