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Tuesday, October 13, 2015
New PCA format
From now on, every time a new dataset of ancient West Eurasian samples is made available online, I'll run it in a Principal Component Analysis (PCA) like this:
Please note that the plots above include the majority of recently published ancient samples, and yet they are not affected by projection bias, otherwise known as shrinkage. If you're confused by some of the acronyms in the PCA key, see here.
See also...
Basques are not simply a fusion of Iberian hunter-gatherers and early farmers
Saturday, October 10, 2015
Eight thousand years of natural selection in Europe - take 2
Open access at bioRxiv [LINK]. Lots of new samples in this updated version. The Principal Component Analysis (PCA) below from the paper appears to be affected by projection bias or shrinkage, but it's more or less correct. Can't wait to get my hands on the genotype data.
Abstract: The arrival of farming in Europe around 8,500 years ago necessitated adaptation to new environments, pathogens, diets, and social organizations. While indirect evidence of adaptation can be detected in patterns of genetic variation in present-day people, ancient DNA makes it possible to witness selection directly by analyzing samples from populations before, during and after adaptation events. Here we report the first genome-wide scan for selection using ancient DNA, capitalizing on the largest genome-wide dataset yet assembled: 230 West Eurasians dating to between 6500 and 1000 BCE, including 163 with newly reported data. The new samples include the first genome-wide data from the Anatolian Neolithic culture, who we show were members of the population that was the source of Europe's first farmers, and whose genetic material we extracted by focusing on the DNA-rich petrous bone. We identify genome-wide significant signatures of selection at loci associated with diet, pigmentation and immunity, and two independent episodes of selection on height.
Mathieson et al., Eight thousand years of natural selection in Europe, bioRxiv revised preprint, posted October 10, 2015, doi: https://dx.doi.org/10.1101/016477
See also...
Lactase persistence and ancient DNA
Sunday, October 4, 2015
Yamnaya's exotic ancestry: The Kartvelian connection
I've made a discovery. The Near Eastern-related ancestors of the Yamnaya steppe pastoralists were also the ancestors of present-day Georgian Mingrelians, or their very close relatives, and in all likelihood speakers of Kartvelian, which has a long history in the Caucasus. Here's a nice map from Wikipedia and a pic of some Mingrelians. Check out the impressive headware.
TreeMix is very specific and precise about this. In my analyses, based on a couple of different methods, the Mingrelians are the only population chosen as a source for the Near Eastern-related ancestry in the Yamnaya.
Keep in mind, this is an unsupervised test and the algorithm has an infinite number of choices, because migration edges can run from any part of the tree, and yet it chooses the Mingrelians. By the way, if anyone's wondering, I did also try the Bronze Age Armenians, to no avail.
This outcome is also more or less reproducible with more complex topologies that include samples from Central Asia. In the graph below the Georgian Mingrelians form a clade with the Near Eastern-related ancestry of the Yamnaya. It'd be interesting to see if other Georgian groups, like the Svans, do even better, if that's actually possible, but they're not available at the moment.
I actually came up with basically the same result earlier this year using qpAdm (see here). But at the time I was skeptical of its usefulness because qpAdm only offers a supervised test, so picking Georgians as a reference population and getting a good statistical fit doesn't mean as much as a reproducible unsupervised migration edge.
Now, judging by their ADMIXTURE results, these Georgian Mingrelians do carry some Early European farmer-related ancestry, which is missing in the Yamnaya (see here). Therefore, it's likely that ancient samples from the west or northwest Caucasus will prove to be even better proxies for the Near Eastern-related ancestry in the Yamnaya.
The samples used to produce the above TreeMix graphs are listed here. They're sourced from the Allentoft et al., Haak et al., and Lazaridis et al. datasets. I limited the markers to ~65K transversion (high confidence) SNPs that overlap between these datasets.
Updates...
Caucasus hunter-gatherers (CHG) and the Indo-European question
'Fourth strand' of European ancestry originated with (Caucasus) hunter-gatherers isolated by Ice Age
Mixed marriages on the early Eneolithic steppe
Saturday, October 3, 2015
Linguistics, Archeology and Genetics (L-A-G) Conference abstracts
The Max Planck Institute is holding a conference in a few days dedicated to the latest developments in the search for the Indo-European homeland.
Linguistics, Archeology and Genetics: Integrating new evidence for the origin and spread of Indo-European languagesA draft book of presentation abstracts is available here. This one from Danish linguist Guus Kroonen looks very promising.
Pre-Indo-European speech carrying a Neolithic signature emanating from the Aegean
Guus Kroonen, Institute for Nordic Studies and Linguistics, Copenhagen University, Copenhagen
When different Indo-European speaking groups settled Europe, they did not arrive in terra nullius. Both from the perspective of the Anatolian hypothesis and the Steppe hypothesis the carriers of Indo-European speech likely encountered existing populations that spoke dissimilar, unrelated languages. Relatively little is known about the Pre-Indo-European linguistic landscape of Europe, as the Indo-Europeanization of the continent caused a largely unrecorded, massive linguistic extinction event. However, when the different Indo-European groups entered Europe, they incorporated lexical material from Europe’s original languages into their own vocabularies. By integrating these “natural samples” of Pre-Indo-European speech, the original European linguistic and cultural landscape can partly be reconstructed and matched against the Anatolia and the Steppe hypotheses. My results reveal that Pre-Indo-European speech contains a clear Neolithic signature emanating from the Aegean, and thus patterns with the prehistoric migration of Europe’s first farming populations. These results also imply that Indo-European speech came to Europe following a later migration wave, and therefore favor the Steppe Hypothesis as a likely scenario for the spread of the Proto-Indo-Europeans.
Also, we've known for a while now that the good people at Broad MIT/Harvard have analyzed remains from Neolithic Anatolia, but it's nice to see this framed in the context of the Indo-European homeland debate.
Close genetic relationship of Neolithic Anatolians to early European farmers
Iosif Lazaridis et al.
We study 1.2 million genome-wide single nucleotide polymorphisms on a sample of 26 Neolithic individuals (~6,300 years BCE) from northwestern Anatolia. Our analysis reveals a homogeneous population that was genetically similar to early farmers from Europe (FST=0.004±0.0003 and frequency of 60% of Y-chromosome haplogroup G2a). We model Early Neolithic farmers from central Europe and Iberia as a genetic mixture of ~90% Anatolians and ~10% European hunter-gatherers, suggesting little influence by Mesolithic Europeans prior to the dispersal of European farmers into the interior of the continent. Neolithic Anatolians differ from all present-day populations of western Asia, suggesting genetic changes have occurred in parts of this region since the Neolithic period. We suggest that the language spoken by the homogeneous Anatolian-European Neolithic farmers is unlikely to have been the same as that spoken by the Yamnaya steppe pastoralists whose ancestry was derived from eastern Europe and a different population from the Caucasus/Near East [Haak et al. 2015], and discuss implications for alternative models of Indo-European dispersals.
Indeed, my view is that the implications of this data for the Anatolian hypothesis are fatal (see here). It might also have dire implications for the Armenian Plateau hypothesis, although for the time being this hypothesis limps on.
Feel free to post and discuss your favorite abstracts in the comments below. If anyone reading is going to this thing, I'd love to hear more about the Y-haplogroups of the Anatolian farmers.
Friday, October 2, 2015
Essential reading: Paleoecology, Subsistence, and 14C Chronology of the Eurasian Caspian Steppe
To help things run more smoothly in the comments, I urge everyone taking part in the debates here about the colonization of the Eurasian steppe and the Indo-European homeland question to read carefully the following three papers. They're all open access:
1) Paleoecology, Subsistence, and 14C Chronology of the Eurasian Caspian Steppe Bronze AgeIn particular, please note the latest calibrated radiocarbon-based dates of the main archaeological cultures being discussed:
2) The Steppe and the Caucasus During the Bronze Age Mutual Relationships and Mutual Enrichments
3) New Radiocarbon Dates and a Review of the Chronology of Prehistoric Populations from the Minusinsk Basin, Southern Siberia, Russia
- Khvalynsk, Eneolithic, 4300–3800 cal BC
- Steppe Maikop, Early Bronze Age, 3800–3000 cal BC
- Yamnaya, Early Bronze Age, 3000–2450 cal BC
- Afanasievo, Early Bronze Age, 2900-2500 cal BC
- Early Catacomb, Early Bronze Age, 2600–2350 cal BC
Of course, Yamnaya are in large part of Eastern European hunter-gatherer (EHG) origin but with roughly 50% of Near Eastern-related ancestry from an unknown population (Haak et al. 2015). Paper #2 linked to above provides tentative isotopic evidence that the latter might be the Steppe Maikop people or their descendants (see paragraph 4 on page 58).
However, the Khvalynsk population from the Samara region harbors around 25% of the same or very similar Near Eastern-related ancestry (unpublished data courtesy of David Anthony). And, as per the dates above, Khvalynsk existed before Steppe Maikop.
Thus, although the increase of the Near Eastern-related ancestry on the steppe from the Khvalynsk to the Yamnaya periods can be tentatively attributed to Maikop influence, this cannot be the initial source of this type of ancestry on the steppe.
Moreover, dates older than 3,000 cal BC for Afanasievo appear to be spurious (see paper #3 above). If so, what this means is that Afanasievo is around the same age as Yamnaya, or perhaps a little younger, and thus the generally accepted hypothesis that Afanasievo derives from Yamnaya or pre-Yamnaya looks safe.
Now, it's especially important that everyone concerned is aware of the key climatic shifts on the steppe, because climatic changes are often invoked as likely causes of major population movements within and out of the steppe. So I'm re-posting here Table 1 from paper #1 (click to enlarge).
I'll update this post as new information comes in, which will hopefully be very soon. There are signals that something big is on the way from the Reich Lab pertaining to the Indo-European homeland debate (for instance, see here).
See also...
Near Eastern admixture in Yamnaya: a couple of graphs + some ideas
Thursday, October 1, 2015
Near Eastern admixture in Yamnaya: a couple of graphs + some ideas
Update 05/10/2015: Yamnaya's exotic ancestry: The Kartvelian connection
...
The Afanasievo and Yamnaya samples published to date are remarkably homogeneous. Hopefully the bar graphs below, based on a couple of my recent ADMIXTURE runs, illustrate this well enough.
The Near Eastern-related ancestry proportions among the Yamnaya individuals do appear to rise steadily from early Yamnaya to late Yamnaya/early Catacomb. But the ancestral components remain the same, and if the increase in the Near Eastern-related admixture is real, the process is very subtle.
What this suggests to me is that groups of a southern provenance - in all likelihood Neolithic farmers seeking new land - arrived somewhere on the Pontic-Caspian steppe very early, perhaps even during the Early Neolithic, to eventually blend with local foragers. That's because the basic Yamnaya genotype had to have existed before the Yamnaya or pre-Yamnaya ancestors of the Afanasievo nomads set off on their 2000 km trek to the Minusinsk Basin in South Siberia, probably around 3,300 BC.
No doubt, the mixing didn't stop after the initial farmer/forger admixture event, and this is probably why the Near Eastern-related ancestry proportions rise gradually throughout the Yamnaya period. Indeed, considering the high mobility of Bronze Age steppe pastoralists, it's likely that long distance trade, alliances and marriages resulted in the genetic homogenization of vast stretches of Eastern Europe during their reign.
In this analysis I used samples from the Allentoft et al., Haak et al. and Lazaridis et al. datasets, all of which are publicly available. The latter two are found at the Reich Lab site here.
Thursday, September 17, 2015
Uralian genes
Below is a graph based on a couple of D-statistics. Note that out of the five Uralic-speaking groups, only Hungarians remain under the upward-sloping red line, clustering among Indo-European-speakers. On the other hand, the Indo-European-speaking Russians from Kargopol cluster with Uralic speakers. However, Russia is a complex affair in this context, because much of the north and east of European Russia was Uralic-speaking until very recently. The relevant D-stats are available here.
See also...
Ancient genomes from NE Europe suggest the tandem spread of Siberian admixture and Uralic languages into the region >3,500 ya
Sunday, September 13, 2015
ASHG 2015 abstracts
The abstract search is here. Feel free to post your picks in the comments. Lots of detail in this one, which is very much appreciated.
It has hitherto been difficult to obtain genome-wide data from the Near East. By targeting the inner ear region of the petrous bone for extraction [Pinhasi et al., PLoS One 2015] and using a genome-wide capture technology [Haak et al., Nature, 2015] we achieved unprecedented success in obtaining genome-wide data on more than 1.2 million single nucleotide polymorphism targets from 34 Neolithic individuals from Northwestern Anatolia (~6,300 years BCE), including 18 at greater than 1× coverage. Our analysis reveals a homogeneous population that is genetically a plausible source for the first farmers of Europe in the sense of (i) having a high frequency of Y-chromosome haplogroup G2a, and (ii) low Fst distances from early farmers of Germany (0.004 ± 0.0004) and Spain (0.014 ± 0.0009). Model-free principal components and model-based admixture analyses confirm a strong genetic relationship between Anatolian and European farmers. We model early European farmers as mixtures of Neolithic Anatolians and Mesolithic European hunter-gatherers, revealing very limited admixture with indigenous hunter-gatherers during the initial spread of Neolithic farmers into Europe. Our results therefore provide an overwhelming support to the migration of Near Eastern/Anatolian farmers into southeast and Central Europe around 7,000-6,500 BCE [Ammerman & Cavalli Sforza, 1984, Pinhasi et al., PLoS Biology, 2005]. Our results also show differences between early Anatolians and all present-day populations from the Near East, Anatolia, and Caucasus, showing that the early Anatolian farmers, just as their European relatives, were later demographically replaced to a substantial degree.
I. Lazaridis, D. Fernandes, N. Rohland, S. Mallick, K. Stewardson, S. Alpaslan, N. Patterson, R. Pinhasi, D. Reich, Genome-wide data on 34 ancient Anatolians identifies the founding population of the European Neolithic. ASHG 2015 abstract. Talk to be held on October 9.
See also...
The ancient DNA case against the Anatolian hypothesis
Monday, September 7, 2015
Copper & Bronze Age genomes from northern Spain
Update: the paper is now available and open access here.
See also: Yamnaya-related admixture in Bronze Age northern Iberia
...
A paper titled "Ancient genomes link early farmers from Atapuerca in Spain to modern-day Basques", by Günther et al., will appear shortly in PNAS early edition. Here's the press release from Uppsala University.
An international team led by researchers at Uppsala University reports a surprising discovery from the genomes of eight Iberian Stone-Age farmer remains. The analyses revealed that early Iberian farmers are the closest ancestors to modern-day Basques, in contrast previous hypotheses that linked Basques to earlier pre-farming groups.
The team could also demonstrate that farming was brought to Iberia by the same/similar groups that migrated to northern and central Europe and that the incoming farmers admixed with local, Iberian hunter-gather groups, a process that continued for at least 2 millennia.
The study is published today, ahead of print, in the leading scientific journal Proceedings of the National Academy of Sciences of the USA, PNAS.
Most of the previous studies about the transition from small and mobile hunter-gatherer groups to larger and sedentary farming populations have focused on central and northern Europe, however much less in known about how this major event unfolded in Iberia. This time, the research team investigated eight individuals associated with archaeological remains from farming cultures in the El Portalón cave from the well-known Anthropological site Atapuerca in northern Spain.
“The El Portalon cave is a fantastic site with amazing preservation of artefact material,” says Dr. Cristina Valdiosera of Uppsala University and La Trobe University, one of the lead authors.
“Every year we find human and animal bones and artifacts, including stone tools, ceramics, bone artefacts and metal objects, it is like a detailed book of the last 10,000 years, providing a wonderful understanding of this period. The preservation of organic remains is great and this has enabled us to study the genetic material complementing the archaeology,” Dr. Cristina Valdiosera continues.
From these individuals who lived 3,500-5,500 years ago, the authors generated the first genome-wide sequence data from Iberian ancient farmers and observed that these share a similar story to those of central and northern Europe. That is, they originate from a southern wave of expansion, and also admixed with local hunter-gatherer populations and spread agricultural practices through population expansions. The authors noticed that although they share these similarities with other European farmers, this early Iberian population has its own particularities.
“We show that the hunter-gatherer genetic component increases with time during several millennia, which means that later farmers were genetically more similar to hunter-gatherers than their forefathers who brought farming to Europe,” says Dr. Torsten Günther of Uppsala University and one of the lead authors.
“We also see that different farmers mixed with different hunter-gatherer groups across Europe, for example, Iberian farmers mixed with Iberian hunter-gatherers and Scandinavian farmers mixed with Scandinavian hunter-gatherers.” Dr. Cristina Valdiosera adds.
The study also reports that compared to all modern Spanish populations, the El Portalón individuals are genetically most similar to modern-day Basques. Basques have so far – based on their distinct culture, non-indo-European language, but also genetic make-up – been thought of as a population with a long continuity in the area, probably since more than 10,000 years ago.
“Our results show that the Basques trace their ancestry to early farming groups from Iberia, which contradicts previous views of them being a remnant population that trace their ancestry to Mesolithic hunter-gatherer groups,” says Prof. Mattias Jakobsson of Uppsala University, who headed the study.
“The difference between Basques and other Iberian groups is these latter ones show distinct features of admixture from the east and from north Africa.” he continues.
These findings shed light into the demographic processes taking place in Europe and Iberia during the last 5,000 years which highlights the unique opportunities gained from the collaborative work of archaeologists, anthropologists and geneticists in the analysis of ancient DNA.
“One of the great things about working with ancient DNA is that the data obtained is like opening a time capsule. Seeing the similarities between modern Basques and these early farmers directly tells us that Basques remained relatively isolated for the last 5,000 years but not much longer,” says Dr. Torsten Günther.
Source: Ancient genomes link early farmers to Basques
Wednesday, September 2, 2015
A multidimensional approach
This is arguably the most interesting Principal Component Analysis (PCA) I've run to date. Note that overall the ancient steppe genomes appear to be the crucial link in the Indo-European chain, basically bridging the gap between European and South Asian Indo-European-speakers. A plot with all of the samples labeled individually can be downloaded here. If you have any questions about the methodology, just ask in the comments.
In this analysis I used samples from the Allentoft et al., Haak et al. and Lazaridis et al. datasets, all of which are publicly available. The latter two are found at the Reich Lab site here.
See also...
No significant genetic substructures within (eastern) Yamnaya
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