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Ancestry and demography and descendants of Iron Age nomads of the

Eurasian Steppe

Article in Nature Communications · March 2017

DOI: 10.1038/ncomms14615

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Received 19 Aug 2015 | Accepted 13 Jan 2017 | Published 3 Mar 2017 DOI: 10.1038/ncomms14615 OPEN

Ancestry and demography and descendants of Iron

Age nomads of the Eurasian Steppe
Martina Unterländer1,*, Friso Palstra2,*, Iosif Lazaridis3,4, Aleksandr Pilipenko5,6,7, Zuzana Hofmanová1,
Melanie Gro1, Christian Sell1, Jens Blöcher1, Karola Kirsanow1, Nadin Rohland3, Benjamin Rieger8, Elke Kaiser9,
Wolfram Schier9, Dimitri Pozdniakov5, Aleksandr Khokhlov10, Myriam Georges2, Sandra Wilde1, Adam Powell1,11,
Evelyne Heyer2, Mathias Currat12, David Reich3,4,13, Zainolla Samashev14, Hermann Parzinger15,
Vyacheslav I. Molodin5,6 & Joachim Burger1

During the 1st millennium before the Common Era (BCE), nomadic tribes associated with the
Iron Age Scythian culture spread over the Eurasian Steppe, covering a territory of more than
3,500 km in breadth. To understand the demographic processes behind the spread of the
Scythian culture, we analysed genomic data from eight individuals and a mitochondrial
dataset of 96 individuals originating in eastern and western parts of the Eurasian Steppe.
Genomic inference reveals that Scythians in the east and the west of the steppe zone can best
be described as a mixture of Yamnaya-related ancestry and an East Asian component.
Demographic modelling suggests independent origins for eastern and western groups with
ongoing gene-flow between them, plausibly explaining the striking uniformity of their material
culture. We also find evidence that significant gene-flow from east to west Eurasia must have
occurred early during the Iron Age.

1 Palaeogenetics Group, Institute of Evolutionary Biology, Johannes Gutenberg University Mainz, 55099 Mainz, Germany. 2 CNRS UMR 7206

Eco-anthropologie, Muséum National d’Histoire Naturelle, 75016 Paris, France. 3 Department of Genetics, Harvard Medical School, Boston, Massachusetts
02115, USA. 4 Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. 5 Institute of Cytology and Genetics, Siberian Branch, Russian
Academy of Science, Akademika Lavrentieva 10, Novosibirsk 630090, Russia. 6 Institute of Archaeology and Ethnography, Siberian Branch, Russian Academy
of Science, Akademika Lavrentieva 17, Novosibirsk 630090, Russia. 7 Novosibirsk State University, Pirogova str. 2, Novosibirsk 630090, Russia. 8 Molecular
Genetics and Genome Analysis Group, Institute of Evolutionary Biology, Johannes Gutenberg University Mainz, 55099 Mainz, Germany. 9 Department of
History and Cultural Studies, Freie Universität Berlin, 14195 Berlin, Germany. 10 Samara State University of Social Sciences and Education, Samara 443099,
Russian Federation. 11 Max Planck Institute for the Science of Human History, Kahlaische Strae 10, 07745 Jena, Germany. 12 Dépt. de Génétique & Evolution,
Unité d’anthropologie, Université de Genève, 1205 Genève, Suisse. 13 Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts
02115, USA. 14 Branch of Margulan Institute of Archaeology, Astana 010000, Kazakhstan. 15 Stiftung Preussischer Kulturbesitz, 10785 Berlin, Germany.
* These authors contributed equally to this work. Correspondence and requests for materials should be addressed to J.B. (email: [email protected]).

NATURE COMMUNICATIONS | 8:14615 | DOI: 10.1038/ncomms14615 | www.nature.com/naturecommunications 1

ARTICLE NATURE COMMUNICATIONS | DOI: 10.1038/ncomms14615

D
uring the first millennium BCE, nomadic people spread and famous for its rich frost-conserved graves, where human
over the Eurasian Steppe from the Altai Mountains over bodies, tapestry and clothing remained well-preserved23–25
the northern Black Sea area as far as the Carpathian (Fig. 1).
Basin1. The classical Scythians, who had lived in the North Pontic While the eastern and western populations investigated here
region since the seventh century BCE, are the most famous are separated by a distance of 2,000–3,500 km, archaeological
among them due to the early reports in the Histories of evidence indicates that they were strikingly similar regarding their
Herodotus (490/480–424 BCE)2. Greek and Persian historians lifestyle and culture. The aims of this study are to investigate the
of the 1st millennium BCE chronicle the existence of the extent to which these groups are genetically related to each other
Massagetae and Sauromatians, and later, the Sarmatians and and whether they have a common origin, and to elucidate their
Sacae: cultures possessing artefacts similar to those found in demographic history and genetic relationships to modern living
classical Scythian monuments, such as weapons, horse harnesses populations. We therefore divided the Iron Age steppe nomad
and a distinctive ‘Animal Style’ artistic tradition. Accordingly, data generated by this study and from the literature (n ¼ 147,
these groups are often assigned to the Scythian culture and Supplementary Table 1) into seven sample groups (see Fig. 2)
referred to as ‘Scythians’. For simplification we will use ‘Scythian’ based on geographical and chronological criteria, and analysed
in the following text for all groups of Iron Age steppe nomads these ancient individuals together with an extensive sample of
commonly associated with the Scythian culture. modern individuals from 86 populations (n ¼ 3,410, Supple-
The origin of the widespread Scythian culture has long been mentary Fig. 11 and Supplementary Table 19) from all parts of
debated in Eurasian archaeology. The northern Black Sea steppe Eurasia. Our analysis included an array of statistical methods as
was originally considered the homeland and centre of the well as a series of population genetic inference approaches,
Scythians3 until Terenozhkin formulated the hypothesis of a including explicit demographic modelling.
Central Asian origin4. On the other hand, evidence supporting an
east Eurasian origin includes the kurgan Arzhan 1 in Tuva5,
which is considered the earliest Scythian kurgan5. Dating of Results
additional burial sites situated in east and west Eurasia confirmed Samples and sequence data. We generated genome-wide capture
eastern kurgans as older than their western counterparts6,7. data on a target set of 1,233,553 SNPs26,27 for six individuals: two
Additionally, elements of the characteristic ‘Animal Style’ dated Early Sarmatians from the southern Ural region (PR9, PR3, group
to the tenth century BCE1,4 were found in the region of the #3 in Fig. 2; fifth to second century BCE), two individuals from
Yenisei river and modern-day China, supporting the early Berel’ in East Kazakhstan (Be9, Be11, #6) dating to the Pazyryk
presence of Scythian culture in the East. Artefacts of the period (fourth to third century BCE), and two individuals found
Scythian culture spread over a large territory shortly after its in kurgan Arzhan 2 (A10, A17, #5) assigned to the Aldy Bel
emergence, but the underlying population dynamics that may culture in Tuva (seventh to sixth century BCE). For Be9 and two
have driven the cultural diffusion are poorly understood. additional individuals from east Kazakhstan (Is2 and Ze6, #4)
Genetic studies on Central Asian populations based on both dating to the Zevakino-Chilikta phase (ninth to seventh century
ancient8 and modern mitochondrial DNA (mtDNA)9–12 agree BCE), we generated low coverage (o0.3x) whole genome datasets
that Central Asia has historically been a crossroad for population by shotgun NGS (Table 1, Supplementary Tables 20 and 21).
movements from east to west and vice versa. It has been claimed We additionally obtained unambiguous and reproducible
that gene flow occurred from east to west Eurasia as early as the mtDNA sequences of the hypervariable region 1 (HVR1; bp
Palaeolithic13,14 and the Mesolithic15, and from west to east 16,013–16,410) for 96 samples (out of 110 samples for which the
Eurasia during the Bronze Age16. A recent genomic study17 has analysis was attempted) (Supplementary Table 5). For 90/96
emphasized the role of eastward migrations of people associated samples additional coding region SNPs were typed (Supple-
with the Yamnaya and Andronovo culture during the Bronze mentary Table 6).
Age, followed by substantial admixture with East Asians. Most
genetic studies on the later Iron Age nomads, however, have been
limited by small sample size, restricted to a single cultural group, Genetic relationship and origin of the Scythian groups. The
or based on the analysis of mtDNA alone18–22. eastern sample group (n ¼ 113) can be divided in four cultural
In this study, mtDNA data from 96 individuals associated with subgroups chronologically dispersed over the 1st millennium BCE
the Scythian culture in different geographical regions and time (Fig. 2). Analysing mtDNA, we found no significant genetic
periods have been sequenced and analysed; additionally, genomic distance between those groups (Supplementary Table 8). We then
data from eight of these individuals was obtained and analysed used approximate Bayesian computation (ABC)28 to test for
(Supplementary Table 1). From the western part of the Eurasian continuity between the earlier (#4: Zevakino-Chilikta and #5:
Steppe, samples discovered in the North Caucasus dating to the Aldy Bel; n ¼ 26) and the later (#6: Pazyryk; n ¼ 71) Scythian
initial Scythian period (eighth to sixth century BCE), classical period in the East. The Tagar/Tes group (#7) had to be excluded
Scythians from the Don-Volga region (third century BCE), and because of their imprecise dating. These analyses revealed that
Early Sarmatians from Pokrovka, southwest of the Ural (fifth to they were most likely derived from one single population that was
second century BCE), were included. From the eastern part of the expanding over the time period considered here, that is, the two
Eurasian Steppe, we analysed samples from East Kazakhstan samples are unlikely to represent two independent populations
dating to the Zevakino-Chilikta phase (ninth to seventh century that diverged earlier than 108 generations before present (g BP)
BCE); from the site Arzhan 2, assigned to the Aldy Bel culture in or B2.7 ky BP. This scenario was highly supported in our model
Tuva (seventh to sixth century BCE); and from the Tagar culture selection procedure (Supplementary Table 9, logistic regression,
of the Minusinsk Basin (fifth century BCE). The majority of the P ¼ 0.995, neural networks P ¼ 0.568, cf. confidence in model
samples generated by this study or retrieved from the literature choice in Supplementary Table 10, model parameter posteriors in
date to the fourth to third century BCE and were discovered Supplementary Table 11), whereas two scenarios that assumed
at archaeological sites situated in the Kazakh, Russian and that the eastern Scythian sample groups were derived from two
Mongolian parts of the Altai Mountains. These findings were all previously diverged populations received very little statistical
assigned to the Pazyryk culture, which is named after the first support (cumulative posterior probabilities: logistic regression,
discoveries by Gryaznov in 1927 and 1929 in the Pazyryk Valley Po0.001, neural networks, P ¼ 0.001).

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NATURE COMMUNICATIONS | DOI: 10.1038/ncomms14615 ARTICLE

Figure 1 | Reconstruction of a Scythian. Found in the kurgan Olon-Kurin-Gol 10, Altai Mountains, Mongolia (reconstruction by Dimitri Pozdniakov).

Since the genetic distance between the combined Scythian of the Andronovo culture29, we used ABC to fit a sample of
groups of the east versus those of the west is relatively low Middle Bronze Age nomadic groups from western Siberia, most
(FST ¼ 0.01733; P-value ¼ 0.02148±0.0045), we used ABC to of them associated with the Andronovo culture, onto the
further assess if the eastern and western Scythians might share a preferred demographic model for the origin of Scythians. For
common origin (Fig. 3). For these analyses we included this purpose—and based on low FST values between these
contemporary samples representative of genetic diversity on the groups—we combined 40 samples related to the Andronovo
extremes of Eurasia (Supplementary Note 1). According to our culture in the west Siberian forest steppe30 and nine samples from
model selection algorithm, a multiregional model provided the same culture in the Krasnoyarsk region31, all of which were
the best fit to the empirically observed diversity patterns dated to the first half of the 2nd millennium BCE. The results
(Supplementary Table 12, 0.5% closest simulations, posterior provided very strong support for a linkage between these Middle
probability P ¼ 0.708 for logistic regression, P ¼ 0.715 for neural Bronze Age groups and eastern Scythians (Supplementary
networks method), while a model of western origin also received Tables 16 and 17). However, these simulations were not able to
some support (Supplementary Table 12, 0.5% closest simulations, fully capture the patterns of genetic diversity observed in the
posterior probability P ¼ 0.286 for logistic regression, P ¼ 0.267 Bronze Age populations, suggesting that the true demographic
for neural networks method). Therefore, in contrast to the eastern history of the ancestry of Iron Age populations may have been
origin model, a western origin cannot be fully discounted by our more complex than considered here (see Supplementary Note 1
analysis. In addition, a pairwise comparison through the and references 30 and 32 for details).
computation of Bayes factors reveals a substantial to strong
(logistic regression) or weak to substantial (neural network) Genetic diversity and ancestry of the Scythian groups.
support for the multiregional origin over the western origin Haplogroups found in the Iron Age nomads are predominant in
model (see Supplementary Note 1, Supplementary Table 14 and modern populations in both west (HV, N1, J, T, U, K, W, I, X)
Supplementary Fig. 5b). These results suggest that western and and east Eurasia (A, C, D, F, G, M, Y, Z). The mitochondrial
eastern Scythian groups arose independently—perhaps in their haplotype diversity in our sample set ranges from 0.958±0.036 in
respective geographic regions—and thereafter experienced sig- the Tagar/Tes sample (group #7 in Fig. 2) up to 1.000±0.039 in
nificant population expansions (during the 1st millennium BCE). the Early Sarmatians (#3; Supplementary Table 7).
Importantly, our simulations support a continuous gene flow Using nuclear SNP data, we performed a principal component
between the Iron Age Scythian groups, with indications of analysis33 (PCA) of 777 present-day west Eurasians26,34,35 onto
asymmetrical gene flow from western to eastern groups, rather which we projected the eight newly reported Iron Age Scythian
than the reverse (see Supplementary Tables 13 and 15 for details). samples as well as 167 other ancient samples from Europe, the
Because population movements across Central Asia during the Caucasus and Siberia from the literature17,34,36 (Fig. 4). The two
Bronze Age are often archaeologically associated with the spread Early Sarmatian samples from the West (group #3 in Fig. 2) fall

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ARTICLE NATURE COMMUNICATIONS | DOI: 10.1038/ncomms14615

Figure 2 | Distribution of the sample sites analysed for this study (yellow) including data from the literature (green). Numbers refer to the defined
groups (#): WEST: #1 initial Scythian period eighth to sixth century BCE (n ¼ 4); #2 classic Scythian phase sixth to second century BCE (n ¼ 19); #3 Early
Sarmatians fifth to second century BCE (n ¼ 11); EAST: #4 Zevakino-Chilikta phase ninth to seventh century BCE (n ¼ 11); #5 Aldy Bel culture seventh to
sixth century BCE (n ¼ 15); #6 Pazyryk culture fourth to third century BCE (n ¼ 71); #7 Tagar/Tes culture eighth century BCE—first century CE (n ¼ 16);
arrows with a G indicate samples for which genomic data was obtained, black for capture data and grey for shotgun data. Source of the map:
cartomedia-Karlsruhe.

Table 1 | List of all ancient individuals from which nuclear data were obtained in this study.

Sample Site Culture Dating No. SNPs overlapping the Shotgun Sample group from Fig. 2
human origins array cov. Ø
PR3 Pokrovka, Russia EarlySarmatian 5th–2nd c. BCE 306,498 3 (West)
PR9 Pokrovka, Russia EarlySarmatian 5th–2nd c. BCE 186,890 3 (West)
A10 Arzhan, Russia AldyBel 7th–6th c. BCE 427,557 5 (East)
A17 Arzhan, Russia AldyBel 7th–6th c. BCE 108,952 5 (East)
Be9 Berel’, Kazakhstan Pazyryk 4th–3rd c. BCE 549,958 0.30 6 (East)
Be11 Berel’, Kazakhstan Pazyryk 4th–3rd c. BCE 420,749 6 (East)
Is2 Ismailovo, Russia Zevakino-Chilikta 9th–7th c. BCE 74,469 0.12 4 (East)
Ze6 Zevakino, Russia Zevakino-Chilikta 9th–7th c. BCE 163,338 0.28 4 (East)

close to an Iron Age sample from the Samara district34 and are projected the ancient individuals (Fig. 5). It is evident from this
generally close to the Early Bronze Age Yamnaya samples from PCA that ancestry of the Iron Age samples falls on a continuum
Samara26,34 and Kalmykia17 and the Middle Bronze Age Poltavka between present-day west Eurasians and eastern non-Africans,
samples from Samara34. The eastern samples from Pazyryk (#6), which is in concordance with the mitochondrial haplogroup
Aldy Bel (#5) and Zevakino-Chilikta (#4) are part of a loose analyses. The eastern Scythians display nearly equal proportions
cluster with other samples from Central Asia17, including those of mtDNA lineages common in east and west Eurasia, whereas in
from Okunevo, Late Bronze Age and Iron Age Russia, and the western Scythian groups, the frequency of lineages now
Karasuk. These samples contrast with earlier samples from the common in east Eurasia is generally lower, even reaching zero in
Eurasian Steppe belonging to the Andronovo17, Sintashta17 four samples of the initial Scythian phase of the eight to sixth
and Srubnaya34 groups, which overlap Late Neolithic/Bronze century BCE (group #1 in Fig. 2), and reaches 18–26% during
Age individuals from mainland Europe34,35 and are shifted later periods (sixth to second century BCE; #2 and #3)
downwards in the PCA plot towards the early farmers of Europe (Supplementary Table 7).
and Anatolia34.
Since the PCA of west Eurasia in Fig. 4 does not allow one to f-statistics. We used f4-statistics of the form f4(Test, LBK; EHG,
examine the ancient samples in relation to contemporary East Mbuti) and f4(Test, LBK; Han, Mbuti), which are zero for those
Asian populations, we also carried out PCA of all 2,345 modern Test samples that form a clade with LBK and positive for popu-
individuals in the Human Origins dataset35, onto which we also lations that have EHG- or Han-related ancestry, respectively. We

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NATURE COMMUNICATIONS | DOI: 10.1038/ncomms14615 ARTICLE

WESTERN MULTIREGION EASTERN I EASTERN 2

1,600

200

108
94
0
W-Eu Ws ES N-Han W-Eu Ws ES N-Han W-Eu Ws ES N-Han W-Eu Ws ES N-Han

Figure 3 | Candidate scenarios for the origin of Scythian populations. W-Eu ¼ West Eurasians; WS ¼ western Scythian groups; ES ¼ eastern Scythian
groups; N-Han ¼ Han Chinese. Numbers on the left refer to generations before present.

0.05
Dimension 2

0.00

−0.05

CHG LBK_EN Russia_IA Yamnaya_Samara

Afanasievo Mezhovskaya Russia_LBA Aldy_Bel_IA
Anatolia_Neolithic Motala_HG Samara_Eneolithic Early_Sarmatian_IA
Andronovo Okunevo Samara_IA Pazyryk_IA
−0.10 Central_LNBA Poltavka Sintashta Zevakino_Chilikta_IA
Central_MN Potapovka Srubnaya
EHG Remedello WHG
Karasuk Russia_EBA Yamnaya_Kalmykia

−0.10 −0.05 0.00 0.05

Dimension 1

Figure 4 | Principal component analysis. PCA of ancient individuals (according colours see legend) projected on modern West Eurasians (grey). Iron Age
Scythians are shown in black; CHG, Caucasus hunter-gatherer; LNBA, late Neolithic/Bronze Age; MN, middle Neolithic; EHG, eastern European hunter-
gatherer; LBK_EN, early Neolithic Linearbandkeramik; HG, hunter-gatherer; EBA, early Bronze Age; IA, Iron Age; LBA, late Bronze Age; WHG, western
hunter-gatherer.

plotted the results against each other, which resulted in a two sources37. These statistics are significantly negative for all
V-shaped pattern with Yamnaya at the apex (Fig. 6). The Iron Scythians, demonstrating that admixture occurred (Supplemen-
Age Scythians are arrayed along a cline from Yamnaya to Ami tary Fig. 13).
(a population of East Asian ancestry that experienced no
admixture), consistent with having ancestry from populations
genetically similar to these two groups. ADMIXTURE analysis. We carried out ADMIXTURE ana-
We also computed statistics of the form f3(Test; lysis38,39 of 2,345 present-day humans35 genotyped on the
Yamnaya_Samara, Han) to check whether a Test population Human Origins array35,37 and 175 ancient individuals on a set
has intermediate allele frequencies between Yamnaya_Samara of 296,340 SNPs intersecting with those in the Human Origins
and Han, which are used as proxies for possible source array. The results for the ancient individuals are displayed in
populations. Intermediate allele frequencies can only occur if Fig. 7 for K ¼ 15, which has the highest log likelihood value (the
the test population is a mixture of populations related to these complete analysis can be found in Supplementary Fig. 14). All

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ARTICLE NATURE COMMUNICATIONS | DOI: 10.1038/ncomms14615

West Eurasians

0.02
Dimension 2

0.00

s
an
ric
Af

Eastern no
−0.02

n−African
CHG LBK_EN Russia_IA Yamnaya_Samara
Afanasievo Mezhovskaya Russia_LBA Aldy_Bel_IA

s
Anatolia_Neolithic Motala_HG Samara_Eneolithic Early_Sarmatian_IA
Andronovo Okunevo Samara_IA Pazyryk_IA
Central_LNBA Poltavka Sintashta Zevakino_Chilikta_IA
Central_MN Potapovka Srubnaya
−0.04 EHG Remedello WHG
Karasuk Russia_EBA Yamnaya_Kalmykia

−0.06 −0.04 −0.02 0.00 0.02

Dimension 1

Figure 5 | Principal component analysis. PCA of ancient individuals (according colours see legend) projected on modern individuals of the Human Origins
dataset (grey). Iron Age Scythians are shown in black; CHG, Caucasus hunter-gatherer; LNBA, late Neolithic/Bronze Age; MN, middle Neolithic; EHG,
eastern European hunter-gatherer; LBK_EN, early Neolithic Linearbandkeramik; HG, hunter-gatherer; EBA, early Bronze Age; IA, Iron Age; LBA, late Bronze
Age; WHG, western hunter-gatherer.

steppe populations have ancestry components that are maximized testing whether Test, the Yamnaya from Samara and the LBK
in European hunter-gatherers (blue) and Caucasus hunter- farmers from central Europe could be descended from two
gatherers from Georgia36 (green). One subset of the steppe streams of ancestry, in which case Test could potentially be
populations (including Srubnaya, Sintashta and Andronovo) also modelled as a mixture of the other two populations. Our results
have early farmer ancestry (orange), while a different subset show that the Iron Age Scythians and the Yamnaya are not
(including all Iron Age samples) also have ancestry from a descended from a single stream of ancestry (Supplementary
component (light blue) that is maximized in the Nganasan Table 23) and furthermore, cannot be modelled as mixtures of
(Samoyedic people from north Siberian), and is pervasive across the Yamnaya and the LBK (Supplementary Table 24). We
diverse present-day people from Siberia and Central Asia. therefore considered an alternative model in which we treat them
Additionally, the Iron Age samples reveal an ancestral as a mix of Yamnaya and the Han (Supplementary Table 25).
component that is maximized in East Asian populations This model fits all of the Iron Age Scythian groups, consistent
(yellow), a type of ancestry that occurs at trace levels—if at with these groups having ancestry related to East Asians not
all—among earlier steppe inhabitants, consistent with the found in the other populations. Alternatively, the Iron Age
observations from PCA and f-statistics about this type of Scythian groups can also be modelled as a mix of Yamnaya and
admixture. the north Siberian Nganasan (Supplementary Note 2, Supple-
mentary Table 26).

Modelling ancient steppe populations. We modelled steppe Descendants of the Iron Age Scythians. A multidimensional
populations as mixtures of the Early Bronze Age Yamnaya and scaling (MDS) plot based on Reynolds’ distances (Supplementary
the LBK farmers from central Europe or East Asians (represented Fig. 1) suggests that the ancient Scythian populations from the
by the Han Chinese). We applied the method of qpWave/qpAdm eastern and western part of the Eurasian Steppe are genetically
used in Haak et al.26, which provides a statistical test for the closer to each other than are the modern populations of the
number of streams of ancestry into a Test population and respective regions. AMOVA analyses carried out for modern and
allows one to estimate mixture proportions. In our application, ancient groups of the eastern and western steppe provided further
we use five outgroups: Ust_Ishim40, Kostenki1441, MA142, support for this finding. We found FCT values to be higher
Papuan and Onge. First we calculated whether Test and the between modern populations of the East and the West
Yamnaya from Samara could be descended from a single (FCT ¼ 0.0835) than between ancient populations of similar
stream of ancestry. In the next step we included LBK farmers regions (FCT ¼ 0.0262).

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NATURE COMMUNICATIONS | DOI: 10.1038/ncomms14615 ARTICLE

Afanasievo Mordovian
Albanian Norwegian
Aldy_Bel_IA Okunevo
Ami Orcadian
0.006 Andronovo Pazyryk_IA
Ashkenazi_Jew Poltavka
Basque Potapovka
Belarusian Russia_EBA
Bergamo Russia_IA
Bulgarian Russia_LBA
Croatian Russian
Czech Samara_IA
0.004 Early_Sarmatian_IA Sardinian
English Scottish
Estonian Sicilian
Finnish Sintashta
French Spanish
f4(Test, LBK_EN; EHG, Mbuti)

French_South Spanish_North
Greek Srubnaya
Hungarian Tuscan
0.002 Icelandic Ukrainian
Karasuk Yamnaya_Kalmykia
Lithuanian Yamnaya_Samara
Maltese Zevakino_Chilikta_IA
Mezhovskaya

0.000

−0.002

−0.004

0.000 0.005 0.010 0.015 0.020

f4(Test, LBK_EN; Han, Mbuti)

Figure 6 | Visualization of f-statistics results. f4(Test, LBK; Han, Mbuti) values are plotted on x axis and f4(Test, LBK; EHG, Mbuti) values on y axis,
positive deviations from zero show deviations from a clade between Test and LBK. A red dashed line is drawn between Yamnaya from Samara and Ami. Iron
Age populations that can be modelled as mixtures of Yamnaya and East Eurasians (like the Ami) are arrayed around this line and appear to be distinct from
the main North/South European cline (blue) on the left of the x axis.

K=15
LBK_EN

EHG

Motala_HG

WHG
CHG
Early_Sarmatian_IA
Samara_IA
Samara_Eneolithic
Russia_EBA
Potapovka
Poltavka

Yamnaya_Samara

Afanasievo

Yamnaya_Kalmykia

Andronovo

Srubnaya

Sintashta

Mezhovskaya

Karasuk

Zevakino_chilikta_IA
Aldy_Bel_IA
Russia_IA
Okunevo
Russia_LBA
Pazyryk_IA

Early Neolithic Hunter-gatherer Steppe populations from Early Bronze to Iron Age
farmer

Figure 7 | ADMIXTURE results for ancient populations. Red arrows point to the Iron Age Scythian individuals studied. LBK_EN: Early Neolithic
Linearbandkeramik; EHG: Eastern European hunter-gatherer; Motala_HG: hunter-gatherer from Motala (Sweden); WHG: western hunter-gatherer;
CHG: Caucasus hunter-gatherer; IA: Iron Age; EBA: Early Bronze Age; LBA: Late Bronze Age.

A continuity test was performed between the two Iron Age with high statistical support for descent from eastern Scythians
groups (‘West’ and ‘East’) and a large set of contemporary are distributed over a wider geographical range. Contemporary
Eurasian populations (n ¼ 86, Supplementary Table 19). For populations linked to western Iron Age steppe people can be
western Scythian-era samples, contemporary populations with found among diverse ethnic groups in the Caucasus, Russia and
high statistical support for a genealogical link are located mainly Central Asia (spread across many Iranian and other Indo-
in close geographical proximity, whereas contemporary groups European speaking groups), whereas populations with genetic

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ARTICLE NATURE COMMUNICATIONS | DOI: 10.1038/ncomms14615

similarities to eastern Scythian groups are found almost a significant proportion of prehistoric hunter-gatherer lineages,
exclusively among Turkic language speakers (Supplementary and lineages that are at high frequency in modern Central and
Figs 10 and 11). East Asians already in the earliest Iron Age individuals dating to
the ninth to seventh century BCE and an even earlier mtDNA
sample from Bronze Age Mongolia49. Typical west Eurasian
Phenotypic markers. Derived alleles of pigmentation markers mtDNA lineages are also present in the Tarim Basin16 and
that are under selection in Europeans are present in eastern and
Kazakhstan8 and were even predominant in the Krasnoyarsk area
western Scythians, including individuals who are homozygous for during the 2nd millennium BCE31. This pattern points to an
the derived alleles at selected SNPs in the HERC2, SLC24A5 or
admixture process between west and east Eurasian populations
SLC45A2 (ref. 43–45). At the two LCT loci associated with lactase that began in earlier periods, certainly before the 1st millennium
persistence, the derived allele is observed only in heterozygotes,
BCE13,50, a finding consistent with a recent study suggesting the
only in the eastern Scythian samples, and at low frequency carriers of the Yamnaya culture are genetically indistinguishable
(2–3%). The ancestral alleles at ADH1B rs3811801 and rs1229984
from the Afanasievo culture peoples of the Altai-Sayan
are nearly fixed in the Scythian dataset, as they are in modern region. This further implies that carriers of the Yamnaya
Europeans (the derived alleles, which confer some resistance to
culture migrated not only into Europe26 but also eastward,
alcoholism, are under selection in East Asians46,47). We observe carrying west Eurasian genes—and potentially also Indo-
the derived allele at rs3827760 in the EDAR gene in a single
European languages—to this region17. All of these observations
Pazyryk individual (#6 in Fig. 2). This EDAR derived allele, which provide evidence that the prevalent genetic pattern does not
is related to tooth and hair morphology, is selected and at high
simply follow an isolation-by-distance model but involves
frequency in modern East Asians (87%)48, and very rare in significant gene flow over large distances.
modern Europeans (B1%)48, although it has been observed in
All Iron Age individuals investigated in this study show
prehistoric hunter-gatherers from Sweden (7.9–7.5 kya)34. Thus, genomic evidence for Caucasus hunter-gatherer and Eastern
the results of the examination of phenotypic SNPs that show
European hunter-gatherer ancestry. This is consistent with the
frequency differences between Europe and East Asia are idea that the blend of EHG and Caucasian elements in carriers of
consistent with gene flow across the steppe territory.
the Yamnaya culture was formed on the European steppe and
exported into Central Asia and Siberia26. All of our analyses
Discussion support the hypothesis that the genetic composition of the
Our results show that the Iron Age groups—long believed to be Scythians can best be described as a mixture of Yamnaya-related
connected through shared cultural artefacts associated with the ancestry and East Asian/north Siberian elements.
classical Scythians of the North Pontic region—also share a Concerning the legacy of the Iron Age nomads, we find that
genetic connection. This is supported by our ABC analyses modern human populations with a close genetic relationship to
revealing population continuity over the 1st millennium BCE in the Scythian groups are predominantly located in close
the eastern Scythians and low FST values between eastern and geographic proximity to the sampled burial sites, suggesting a
western Scythian groups. However, ABC analyses that evaluated degree of population continuity through historical times.
different models for the origins of Scythian populations provided Contemporary descendants of western Scythian groups are found
the strongest support for a multiregional origin, with eastern and among various groups in the Caucasus and Central Asia, while
western groups arising independently within their own regions. similarities to eastern Scythian are found to be more widespread,
Despite separate origins and the enormous geographic separation, but almost exclusively among Turkic language speaking
demographic modelling infers ongoing and substantial gene flow (formerly) nomadic groups, particularly from the Kipchak branch
between eastern and western groups, which provides a plausible of Turkic languages (Supplementary Note 1). The genealogical
demographic mechanism to explain the low FST values and the link between eastern Scythians and Turkic language speakers
general uniformity of the material culture of Scythians right requires further investigation, particularly as the expansion of
across the Eurasian Steppe zone. Turkic languages was thought to be much more recent—that is,
Our genomic analyses reveal that western and eastern steppe sixth century CE onwards—and to have occurred through an
inhabitants possess east Eurasian ancestry to varying degrees. In elite expansion process. There are potentially many more
our ADMIXTURE analyses we find an East Asian ancestry demographic factors involved in the origins of Turkic language
component at K ¼ 15 in all Iron Age samples that has not been speakers, such as migration waves associated with Xiongnu,
detected in preceding Bronze Age populations in either western ancient Turkic or early Mongolian populations. The extent to
or eastern parts of the Eurasian Steppe. Another ancestral which the eastern Scythians were involved in the early formation
component that is maximized in the north Siberian Nganasan of Turkic speaking populations can be elucidated by future
population becomes visible from the 2nd millennium BCE genomic studies on the historic periods following the Scythian
onwards in the eastern steppe (Okunevo, Karasuk, Mezhovskaya). times.
This component appears later in all Iron Age populations but
with significantly higher levels in the eastern steppe zone than in Methods
the West. These findings are consistent with the appearance of Sample material. For this study, human skeletal sample material from different
east Eurasian mitochondrial lineages in the western Scythians parts of Russia and Kazakhstan was selected based on an association of the
archaeological complex with Scythian burial rites and artefacts. We analysed 110
during the Iron Age, and imply gene-flow or migration over the skeletal samples. Five samples yielded no DNA, eight gave only poor results, and
Eurasian Steppe belt carrying East Asian/North Siberian ancestry for one only coding region SNPs could be obtained. In the end we could use 96
from the East to the West as far as the Don-Volga region in samples for the analyses of mtDNA. Eight individuals were converted into Illumina
southern Russia. In general, gene-flow between eastern and libraries; six thereof were used for a genomic capture, two for shotgun sequencing,
western Eurasia seems to have been more intense during the Iron and one for both capture and shotgun sequencing. Overall DNA preservation was
remarkably good, with slight variations depending on region or sample site
Age than in modern times, which is congruent with the view of (Supplementary Tables 1 and 2).
the Iron Age populations of the Eurasian Steppe being highly
mobile semi-nomadic horse-riding groups. Sample preparation. All pre-PCR sample preparation steps were carried out in a
In the East, we find a balanced mixture of mitochondrial cleanroom facility physically separated from the post-PCR laboratories. Sample
lineages found today predominantly in west Eurasians, including preparation, DNA extraction, the amplification of single mtDNA fragments and

8 NATURE COMMUNICATIONS | 8:14615 | DOI: 10.1038/ncomms14615 | www.nature.com/naturecommunications

NATURE COMMUNICATIONS | DOI: 10.1038/ncomms14615 ARTICLE

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