Palaeogenomic and biostatistical analysis of ancient DNA data from Mesolithic and Neolithic skeletal remains


PhD Thesis Palaeogenomic and biostatistical analysis of ancient DNA data from Mesolithic and Neolithic skeletal remains, by Zuzana Hofmanova (2017) at the University of Mainz.

Palaeogenomic data have illuminated several important periods of human past with surprising im- plications for our understanding of human evolution. One of the major changes in human prehistory was Neolithisation, the introduction of the farming lifestyle to human societies. Farming originated in the Fertile Crescent approximately 10,000 years BC and in Europe it was associated with a major population turnover. Ancient DNA from Anatolia, the presumed source area of the demic spread to Europe, and the Balkans, one of the first known contact zones between local hunter-gatherers and incoming farmers, was obtained from roughly contemporaneous human remains dated to ∼6 th millennium BC. This new unprecedented dataset comprised of 86 full mitogenomes, five whole genomes (7.1–3.7x coverage) and 20 high coverage (7.6–93.8x) genomic samples. The Aegean Neolithic pop- ulation, relatively homogeneous on both sides of the Aegean Sea, was positively proven to be a core zone for demic spread of farmers to Europe. The farmers were shown to migrate through the central Balkans and while the local sedentary hunter-gathers of Vlasac in the Danube Gorges seemed to be isolated from the farmers coming from the south, the individuals of the Aegean origin infiltrated the nearby hunter-gatherer community of Lepenski Vir. The intensity of infiltration increased over time and even though there was an impact of the Danubian hunter-gatherers on genetic variation of Neolithic central Europe, the Aegean ancestry dominated during the introduction of farming to the continent.

Taking only admixture analyses using Yamna samples:

This increased genetic affinity of Neolithic farmers to Danubians was observed for Neolithic Hungarians, LBK from central Europe and LBK Stuttgart sample. Some post-Neolithic samples also proved to share more drift with Danubians, again samples from Hungary (Bronze Age and Copper Age samples and also Yamnaya and samples with elevated Yamnaya ancestry (Early Bronze Age samples from Únětice, Bell Beaker samples, Late Neolithic Karlsdorf sample and Corded Ware samples).


The results of our ADMIXTURE analysis for the dataset including also Yamnaya samples are shown in Figure S1c. The cross-validation error was the lowest for K=2. Supervised and unsupervised analyses for K=3 are again highly concordant. Early Neolithic farmers again demonstrate almost no evidence of hunter-gatherer admixture, while it is observable in the Middle Neolithic farmers. However, much of the Late Neolithic hunter-gatherer ancestry from the previous analysis is replaced by Yamnaya ancestry. These results are consistent with the results of Haak et al. who demonstrated a resurgence of hunter-gatherer ancestry followed by the establishment of Eastern hunter-gatherer ancestry.

Again, admixture results show that something in the simplistic Yamna -> Corded Ware model is off. It is still interesting to review admixture results of European Mesolithic and Late Neolithic genomic data in relation to the so-called steppe or yamna ancestry or component (most likely an eastern steppe / forest zone ancestry probably also present in the earlier Corded Ware horizons) and its interpretation…

Image composed by me, from two different images of the PhD Thesis. To the left: Supervised run of ADMIXTURE. The clusters to be supervised were chosen to best fit the presumed ancestral populations (for HG Motala and for farmers Bar8 and Bar31 and for later Eastern migration Yamnaya). To the Right: Unsupervised run of ADMIXTURE for the Anatolian genomic dataset with Yamnaya samples for K=8.

Discovered via Généalogie génétique

Ancient DNA samples from Mesolithic Scandinavia show east-west genetic gradient


New pre-print article at BioRxiv, Genomics of Mesolithic Scandinavia reveal colonization routes and high-latitude adaptation, by Günther et al. (2017), from the Uppsala University (group led by Mattias Jakobsson).

Abstract (emphasis mine):

Scandinavia was one of the last geographic areas in Europe to become habitable for humans after the last glaciation. However, the origin(s) of the first colonizers and their migration routes remain unclear. We sequenced the genomes, up to 57x coverage, of seven hunter-gatherers excavated across Scandinavia and dated to 9,500-6,000 years before present. Surprisingly, among the Scandinavian Mesolithic individuals, the genetic data display an east-west genetic gradient that opposes the pattern seen in other parts of Mesolithic Europe. This result suggests that Scandinavia was initially colonized following two different routes: one from the south, the other from the northeast. The latter followed the ice-free Norwegian north Atlantic coast, along which novel and advanced pressure-blade stone-tool techniques may have spread. These two groups met and mixed in Scandinavia, creating a genetically diverse population, which shows patterns of genetic adaptation to high latitude environments. These adaptations include high frequencies of low pigmentation variants and a gene-region associated with physical performance, which shows strong continuity into modern-day northern Europeans. Finally, we were able to compute a 3D facial reconstruction of a Mesolithic woman from her high-coverage genome, giving a glimpse into an individual’s physical appearance in the Mesolithic.

Interesting is the genetic similarity found with Baltic hunter-gatherers from Zvejnieki:

To investigate the postglacial colonization of Scandinavia, we explored four hypothetical migration routes (primarily based on natural geography) linked to WHGs and EHGs, respectively (Supplementary Information 11); a) a migration of WHGs from the south, b) a migration of EHGs from the east across the Baltic Sea, c) a migration of EHGs from the east and along the north-Atlantic coast, d) a migration of EHGs from the east and south of the Baltic Sea, and combinations of these four migration routes.
The SHGs from northern and western Scandinavia show a distinct and significantly stronger affinity to the EHGs compared to the central and eastern SHGs (Fig. 1). Conversely, the SHGs from eastern and central Scandinavia were genetically more similar to WHGs compared to the northern and western SHGs (Fig. 1). Using a model-based approach (15, 16), the EHG genetic component of northern and western SHGs was estimated to 55% on average (43-67%) and significantly different (Wilcoxon test, p=0.014) from the average 35% (22-44%) in eastern and south-central SHGs. This average is similar to eastern Baltic hunter-gatherers from Latvia (28) (average 33%, Fig. 1A, Supplementary Information 6). These patterns of genetic affinity within SHGs are in direct contrast to the expectation based on geographic proximity with EHGs and WHGs and do not correlate with age of the sample.
Combining these isotopic results with the patterns of genetic variation, we suggest an initial colonization from the south, likely by WHGs. A second migration of people who were related to the EHGs – that brought the new pressure blade technique to Scandinavia and that utilized the rich Atlantic coastal marine resources –entered from the northeast moving southwards along the ice-free Atlantic coast where they encountered WHG groups. The admixture between the two colonizing groups created the observed pattern of a substantial EHG component in the northern and the western SHGs, contrary to the higher levels of WHG genetic component in eastern and central SHGs (Fig. 1, Supplementary Information 11).

From the same article, three samples with reported Y-DNA, the three of haplogroup I2 (one more specifically I2a1b). Regarding mtDNA, four samples U5a1 (two of them U5a1d), two samples U4a1, one U4a2.

Featured image: potential migration routes, taken from the supplementary material.


My European Family: The First 54,000 years, by Karin Bojs


I have recently read the book My European Family: The First 54,000 years (2015), by Karin Bojs, a known Swedish scientific journalist, former science editor of the Dagens Nyheter.

My European Family: The First 54,000 Years
It is written in a fresh, dynamic style, and contains general introductory knowledge to Genetics, Archaeology, and their relation to language, and is written in a time of great change (2015) for the disciplines involved.

The book is informed, it shows a balanced exercise between responsible science journalism and entertaining content, and it is at times nuanced, going beyond the limits of popular science books. It is not written for scholars, although you might learn – as I did – interesting details about researchers and institutions of the anthropological disciplines involved. It contains, for example, interviews with known academics, which she uses to share details about their personalities and careers, which give – in my opinion – a much needed context to some of their publications.

Since I am clearly biased against some of the findings and research papers which are nevertheless considered mainstream in the field (like the identification of haplogroup R1a with the Proto-Indo-European expansion, or the concept of steppe admixture), I asked my wife (who knew almost nothing about genetics, or Indo-European studies) to read it and write a summary, if she liked it. She did. So much, that I have convinced her to read The Horse, the Wheel, and Language: How Bronze-Age Riders from the Eurasian Steppes Shaped the Modern World (2007), by David Anthony.

Here is her summary of the book, translated from Spanish:

The book is divided in three main parts: The Hunters, The Farmers, and The Indo-Europeans, and each has in turn chapters which introduce and break down information in an entertaining way, mixing them with recounts of her interactions and personal genealogical quest.

Part one, The Hunters, offers intriguing accounts about the direct role music had in the development of the first civilizations, the first mtDNA analyses of dogs (Savolainen), and the discovery of the author’s Saami roots. Explanations about the first DNA studies and their value for archaeological studies are clear and comprehensible for any non-specialized reader. Interviews help give a close view of investigations, like that of Frederic Plassard’s in Les Combarelles cave.

Part two, The Farmers, begins with her travel to Cyprus, and arouses the interest of the reader with her description of the circular houses, her notes on the Basque language, the new papers and theories related to DNA analyses, the theory of the decision of cats to live with humans, the first beers, and the houses built over graves. Karin Bojs analyses the subgroup H1g1 of her grandmother Hilda, and how it belonged to the first migratory wave into Central Europe. This interest in her grandmother’s origins lead her to a conference in Pilsen about the first farmers in Europe, where she knows firsthand of the results of studies by János Jakucs, and studies of nuclear DNA. Later on she interviews Guido Brandt and Joachim Burguer, with whom she talks about haplogroups U, H, and J.

The chapter on Ötzi and the South Tyrol Museum of Archaeology (Bolzano) introduces the reader to the first prehistoric individual whose DNA was analysed, belonging to haplogroup G2a4, but also revealing other information on the Iceman, such as his lactose intolerance.

Part three, dealing with the origin of Indo-Europeans, begins with the difficulties that researchers have in locating the origin of horse domestication (which probably happened in western Kazakhstan, in the Russian steppe between the rivers Volga and Don). She mentions studies by David Anthony and on the Yamna culture, and its likely role in the diffusion of Proto-Indo-European. In an interview with Mallory in Belfast, she recalls the potential interest of far-right extremists in genetic studies (and early links of the Journal of Indo-European Studies to certain ideology), as well as controversial statements of Gimbutas, and her potentially biased vision as a refugee from communist Europe. During the interview, Mallory had a copy of the latest genetic paper sent to Nature Magazine by Haak et al., not yet published, for review, but he didn’t share it.

Then haplogroups R1a and R1b are introduced as the most common in Europe. She visits the Halle State Museum of Prehistory (where the Nebra sky disk is exhibited), and later Krakow, where she interviews Slawomir Kadrow, dealing with the potential creation of the Corded Ware culture from a mix of Funnelbeaker and Globular Amphorae cultures. New studies of ancient DNA samples, published in the meantime, are showing that admixture analyses between Yamna and Corded Ware correlate in about 75%.

In the following chapters there is a broad review of all studies published to date, as well as individuals studied in different parts of Europe, stressing the importance of ships for the expansion of R1b lineages (Hjortspring boat).

The concluding chapter is dedicated to vikings, and is used to demystify them as aggressive warmongers, sketching their relevance as founders of the Russian state.

To sum up, it is a highly documented book, written in a clear style, and is capable of awakening the reader’s interest in genetic and anthropological research. The author enthusiastically looks for new publications and information from researchers, but is at the same time critic with them, showing often her own personal reactions to new discoveries, all of which offers a complex personal dynamic often shared by the reader, engaged with her first-person account the full length of the book.

Mayte Batalla (July 2017)

DISCLAIMER: The author sent me a copy of the book (a translation into Spanish), so there is a potential conflict of interest in this review. She didn’t ask for a review, though, and it was my wife who did it.

Collapse of the European ice sheet caused chaos in northern and eastern Europe until about 8000 BC


A new paper with open access has appeared in Quaternary Science Reviews, authored by Patton et al.: Deglaciation of the Eurasian ice sheet complex, which offers a new model investigating the retreat of this ice sheet and its many impacts.

According to the comments of professor Alun Hubbard, the paper’s second author and a leading glaciologist:

To place it in context, this is almost 10 times the current rates of ice lost from Greenland and Antarctica today. What’s fascinating is that not all Eurasian ice retreat was from surface melting alone. Its northern and western sectors across the Barents Sea, Norway and Britain terminated directly into the sea. They underwent rapid collapse through calving of vast armadas of icebergs and undercutting of the ice margin by warm ocean currents.

Some speculate that at some points during the European deglaciation, this river system had a discharge twice that of the Amazon today. Based on our latest reconstruction of this system, we have calculated that its catchment area was similar to that of the Mississippi. It was certainly the largest river system to have ever drained the Eurasian continent.

One thing that we show pretty well in this study is that our simulation is relevant to a range of different research disciplines, not only glaciology. It can even be useful for archaeologists who look at human migration routes, and are interested to see how the European environment developed over the last 20,000 years.

Interesting is its effect on population movements in eastern Europe, including the steppe, the forest-steppe, and the Forest Zone, during the Younger Dryas period and thereafter.

Another, recent build-up article on this model also by Patton and cols. of december 2016, in the same journal, is The build-up, configuration, and dynamical sensitivity of the Eurasian ice-sheet complex to Late Weichselian climatic and oceanic forcing. A summary is found at the University of Tromso website.

Discovered via News at

Featured image: Younger Dryas period, from the article.

Indo-European pastoralists healthier than modern populations? Genomic health improving over time


A new paper has appeared at BioRxiv, The Genomic Health Of Ancient Hominins (2017) by Berence, Cooper and Lachance.

Important results are available at:

While the study’s many limitations are obvious to the authors, they still suggest certain interesting possibilities as the most important conclusions:

  • In general, Genetic risk scores (GRS) are similar to present-day individuals
  • Genomic health seems to be improving over time
  • Pastoralists could have been healthier than older and modern populations

Some details and shortcomings of the study (most stated by them, bold is from me) include:

  • Allele selection: only some of the known autosomal disease-associated SNPs were included
  • Discovered disease-associated SNPs are known to be biased toward European diseases
  • Ancient sample selection and genomic quality: only 147 ancient genomes were included, from 449 available, with a conventional cut made at 50% of the focal 3180 disease-associated loci. These samples did not include the same loci. All this can affect whether an individual has high or low GRS (a relationship was found between GRS percentiles and sequencing coverage for ancient samples).
  • Phase 3 of the 1000 Genomes Project was used. However, many disease alleles that segregated in the past remain undiscovered – therefore, GRS for ancient individuals should be considered to be underestimated.
  • Genetic risk scores were calculated for each individual (with different sets of disease-associated loci), hence they were not comparable across individuals. So GRS were standardized as GRS percentiles, with certain assumptions, comparing them to modern individuals
  • Multiple comparisons with all data available, using multiple groups, in the small sample selected: comparisons were made between standardized GRS percentile, sample age (i.e. estimated date), mode of subsistance, and geographic location.
  • Older samples have worse coverage, especially Altai Neandertal, Ust’-Ishim, and Denisovan (which might influence results in hunter-gatherers)
  • Northern ancient individuals (using latitude values) show healthier genomes: but, most ancient individuals are from Eurasia, and samples are heterogeneous.
  • Agriculturalists show a higher genetic risk for dental/periodontal diseases than hunger-gatherers and pastoralists. However, this disease has the smallest number of risk loci (k = 40), so risk in older samples might be underestimated, and pastoralists are the more recent agriculturalist population (most used agriculture as a complementary diet), so it is only natural that selection had an impact over time in this aspect.
  • Pastoralists have the smallest sample size (19 samples) and geographic range, so conclusions about this group are still less trustworthy.
  • Genetic risk percentile ≠ Genomic health ≠ phenotypic health (not deterministic), and also disease-associated alleles in modern populations ≠ same effects in past environments.

To sum up, an interesting approach to studying genomic health with the scarce data available, but too many comparisons, with too many hypotheses being tested, which remind to a brute-force attack on data that can therefore yield statistically significant results anytime, anywhere.