Magyar tribes brought R1a-Z645, I2a-L621, and N1a-L392(xB197) lineages to the Carpathian Basin

hungarian-conquerors-turks

The Nightmare Week of “N1c=Uralic” proponents continues, now with preprint Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin, by Neparaczki et al. bioRxiv (2019).

Abstract:

Hun, Avar and conquering Hungarian nomadic groups arrived into the Carpathian Basin from the Eurasian Steppes and significantly influenced its political and ethnical landscape. In order to shed light on the genetic affinity of above groups we have determined Y chromosomal haplogroups and autosomal loci, from 49 individuals, supposed to represent military leaders. Haplogroups from the Hun-age are consistent with Xiongnu ancestry of European Huns. Most of the Avar-age individuals carry east Eurasian Y haplogroups typical for modern north-eastern Siberian and Buryat populations and their autosomal loci indicate mostly unmixed Asian characteristics. In contrast the conquering Hungarians seem to be a recently assembled population incorporating pure European, Asian and admixed components. Their heterogeneous paternal and maternal lineages indicate similar phylogeographic origin of males and females, derived from Central-Inner Asian and European Pontic Steppe sources. Composition of conquering Hungarian paternal lineages is very similar to that of Baskhirs, supporting historical sources that report identity of the two groups.

Interesting excerpts (emphasis mine):

All N-Hg-s identified in the Avars and Conquerors belonged to N1a1a-M178. We have tested 7 subclades of M178; N1a1a2-B187, N1a1a1a2-B211, N1a1a1a1a3-B197, N1a1a1a1a4-M2118, N1a1a1a1a1a-VL29, N1a1a1a1a2-Z1936 and the N1a1a1a1a2a1c1-L1034 subbranch of Z1936. The European subclades VL29 and Z1936 could be excluded in most cases, while the rest of the subclades are prevalent in Siberia 23 from where this Hg dispersed in a counter-clockwise migratory route to Europe (…). All the 5 other Avar samples belonged to N1a1a1a1a3-B197, which is most prevalent in Chukchi, Buryats, Eskimos, Koryaks and appears among Tuvans and Mongols with lower frequency.

haplogroup-n-pca
First two components of PCA from Hg N1a subbranch distribution in 51 populations including Avars and Conquerors. Colors indicate geographic regions. Three letter codes are given in Supplementary Table S5.

By contrast two Conquerors belonged to N1a1a1a1a4-M2118, the Y lineage of nearly all Yakut males, being also frequent in Evenks, Evens and occurring with lower frequency among Khantys, Mansis and Kazakhs.

Three Conqueror samples belonged to Hg N1a1a1a1a2-Z1936 , the Finno-Permic N1a branch, being most frequent among northeastern European Saami, Finns, Karelians, as well as Komis, Volga Tatars and Bashkirs of the Volga-Ural region.Nevertheless this Hg is also present with lower frequency among Karanogays, Siberian Nenets, Khantys, Mansis, Dolgans, Nganasans, and Siberian Tatars.

The west Eurasian R1a1a1b1a2b-CTS1211 subclade of R1a is most frequent in Eastern Europe especially among Slavic people. This Hg was detected just in the Conqueror group (K2/18, K2/41 and K1/10). Though CTS1211 was not covered in K2/36 but it may also belong to this sub-branch of Z283.

Hg I2a1a2b-L621 was present in 5 Conqueror samples, and a 6th sample form Magyarhomorog (MH/9) most likely also belongs here, as MH/9 is a likely kin of MH/16 (see below). This Hg of European origin is most prominent in the Balkans and Eastern Europe, especially among Slavic speaking groups. It might have been a major lineage of the Cucuteni-Trypillian culture and it was present in the Baden culture of the Chalcolithic Carpathian Basin.

hungarian-conquerors-y-dna
Image modified from the paper, with drawn red square around lineages of likely Ugric origin, and squares around R1a-Z93, R1a-Z283, N1a-Z1936, and N1a-M2004 samples. Y-Hg-s determined from 46 males grouped according to sample age, cemetery and Hg. Hg designations are given according to ISOGG Tree 2019. Grey shading designate distinguished individuals with rich grave goods, color shadings denote geographic origin of Hg-s according to Fig. 1. For samples K3/1 and K3/3 the innermost Hg defining marker U106* was not covered, but had been determined previously.

We identified potential relatives within Conqueror cemeteries but not between them. The uniform paternal lineages of the small Karos3 (19 graves) and Magyarhomorog (17 graves) cemeteries approve patrilinear organization of these communities. The identical I2a1a2b Hg-s of Magyarhomorog individuals appears to be frequent among high-ranking Conquerors, as the most distinguished graves in the Karos2 and 3 cemeteries also belong to this lineage. The Karos2 and Karos3 leaders were brothers with identical mitogenomes 11 and Y-chromosomal STR profiles (Fóthi unpublished). The Sárrétudvari commoner cemetery seems distinct from the others, containing other sorts of European Hg-s. Available Y-chromosomal and mtDNA data from this cemetery suggest that common people of the 10th century rather represented resident population than newcomers. The great diversity of Y Hg-s, mtDNA Hg-s, phenotypes and predicted biogeographic classifications of the Conquerors indicate that they were relatively recently associated from very diverse populations.

Surprising about the Hungarian conquerors – although in line with the historical accounts – is the varied patrilineal origin of clans, including Q1a, G2a2b, I1, E1b1b, R1b, J1, or J2 – some of which (depending on specific lineages) may have appeared earlier in the Carpathian Basin or south-eastern Europe.

However, out of the 27 conqueror elite samples, 17 are of haplogroups most likely related to Ugric populations beyond the Urals: R1a-Z645, I2-L621, and two specific N1a-L392 lineages (see below). In fact, there are three high-ranking conqueror elites of hg. I2-L621 (one of them termed a “leader”, brother to an unpublished leader of Karos3, and all of them possibly family), one of hg. R1a-Z280, one of hg. R1a-Z93 (which should be added to the Árpáds), and one of hg. N1a-Z1936, which gives a good idea of the ruling class among the elite Ugric settlers.

NOTE. The Q1a sample is also likely to be found in the mixed population of the West Siberian forest-steppes, since it was found in Mesolithic-Neolithic samples from eastern Europe to Lake Baikal, and in Bronze Age Siberian groups, although admittedly it may have formed part of an Avar Transtisza group, or even earlier Hunnic or Scythian groups along the steppes. Without precise subclades it’s impossible to know.

arrival-of-hungarians-arpad
The seven chieftains of the Hungarians, detail of Arrival of the Hungarians, from Árpád Feszty’s and his assistants’ vast (1800 m2) cyclorama, painted to celebrate the 1000th anniversary of the Magyar conquest of Hungary, now displayed at the Ópusztaszer National Heritage Park in Hungary. Image from Wikipedia.

I2a-L621

I2a-L621 (xS17250) or I2a1b2 in the old nomenclature, is found in 6 early conquerors (including one leader), on a par with R1a and N samples. This haplogroup is found widely distributed in ancient samples, due to its early split (formed ca. 9200 BC, TMRCA ca. 4500 BC) and expansion, probably with Neolithic populations. I can’t seem to find samples of this early haplogroup from the Carpathian Basin, as mentioned in the text, although it wouldn’t be strange, because it appears also in Neolithic Iberia, and in modern populations from western Europe.

Nevertheless, I2a-L621 samples seem to be concentrated mainly in Mesolithic-Neolithic cultures of Fennoscandia, and appeared also in Sikora et al. (2017) in a sample of the High Middle Ages from Sunghir (ca. AD 1100-1200), probably from the Vladimir-Suzdalian Rus’, in a region where clearly tribes of Volga Finns were being assimilated at the time. The reported SNP call by Genetiker is A16681 (see Yfull), deep within I2a-CTS10228. It is possibly also behind a modern Saami from Chalmny Varre (ca. AD 1800) of hg. I2a in Lamnidis et al. (2018).

Lacking precise subclades from Hungarian conquerors this is pure speculation, but modern samples may also point to I2a-CTS10228 (formed ca. 3100 BC, TMRCA ca. 1800 BC) as a Finno-Ugric lineage in common with R1a, which must have expanded to the Urals and beyond with eastern Corded Ware groups or (more likely) succeeding cultures. This is in line with the association of certain I2a lineages with modern Uralic peoples or populations from their historical regions in eastern Europe, and linked thus to the most likely homeland of Uralians in the eastern European forests:

uralic-groups-haplogroup-r1a
Additional file 6: Table S5. Y chromosome haplogroup frequencies in Eurasia. Modified by me: in bold haplogroup N1c and R1a from Uralic-speaking populations, with those in red showing where R1a is the major haplogroup. Observe that all Uralic subgroups – Finno-Permic, Ugric, and Samoyedic – have some populations with a majority of R1a, and also of I lineages. Data from Tambets et al. (2018).

R1a-Z645

Regarding the important question of the ethnic makeup of Ugric populations stemming from the Urals, the most interesting (and expected) data is the presence of R1a-Z645 lineages among high-ranking conquerors, in particular four R1a-Z280 subclades proper of Finno-Ugrians.

This proves that, in line with the old split and expansion of R1a-CTS1211 (formed ca. 2600 BC, TMRCA ca. 2400 BC), and its finding in Bronze Age Fennoscandian samples, only some late R1a-Z280 (xZ92) lineages (see Z280 on YFull) may show a clear identification with early acculturated Uralic speakers, with the main early acculturated Balto-Slavic R1a haplogroup remaining R1a-M458.

I recently hypothesized this late connection of Slavs with very specific R1a-Z280 (xZ92) lineages based on analyses of modern populations (like Slovenians), because the connection of ancient Finno-Ugrians with modern Z92 samples was already evident:

(…) subclades of hg. R1a1a1b1a2-Z280 (xR1a1a1b1a2a-Z92) seem to have also been involved in early Slavic expansions, like R1a1a1b1a2b3a-CTS3402 (formed ca. 2200 BC, TMRCA ca. 2200 BC), found among modern West, South, and East Slavic populations and in Fennoscandia, prevalent e.g. among modern Slovenians which points to a northern origin of its expansion (Maisano Delser et al. 2018).

This finding also supports the expected shared R1a-Z280 lineages among ancient Finno-Ugric populations, as predicted from the study of modern Permic and Ugric peoples in Dudás et al. (2019).

r1a-z282-z280-z2125-distribution
Modified image, from Underhill et al. (2015). Spatial frequency distributions of Z282 (green) and Z93 (blue) affiliated haplogroups. Notice the distribution of R1a-Z280 (xZ92), i.e. R1a-M558, compared to the ancient Finno-Ugric distribution.

Furthermore, while we don’t have precise R1a-Z93 lineages to compare with the new Hunnic sample reported, we already know that some archaic R1a-Z2124 subclades stem from the forest-steppe areas of the Cis- and Trans-Urals, and the two newly reported R1a-Z93 Hungarian conqueror elites, like those of the Árpád dynasty, probably belong to them.

There is an obvious lack of continuity in specific paternal lineages among the Hunnic, the Avar, and the Conqueror periods, which makes any simplistic identification of all R1a-Z93 lineages as stemming from Avars, Huns, or the Iron Age Pontic-Caspian steppes clearly flawed. Comparing R1a-Z93 in Hungarian Conquerors with Huns is like comparing them with samples of the Srubna or earlier periods… Similarly, comparing the Hunnic R1b-U106 or the early Avar I1 to later Hungarian samples is not warranted without precise subclades, because they most likely correspond to different Germanic populations: Goths among Huns, then Longobards, then likely peoples descended from Franks and Irish Monks (the latter with R1b-P312).

N1a-L392

Second behind R1a subclades are, as expected, N1a-L392 (N1c in the old nomenclature).

Avars are dominated by a specific N1a-L392 subclade, N1a-B197, as we recently discovered in Csáky et al. (2019).

Hungarian conquerors show three N1a-Z1936 subclades, which is known to stem from the northern Ural region, including the Arctic (likely Palaeo-Laplandic peoples) and cross-stamped cultures of the northern Eurasian forests.

haplogroup_n3a4
Frequency-Distribution Maps of Individual Subclade N3a4 / N1a1a1a1a2-Z1936, probably with the Samic (first) and Fennic (later) expansions into Paleo-Lakelandic and Palaeo-Laplandic territories.

On the other hand, the two N1a-M2118 lineages are more clearly associated with Palaeo-Siberian populations east of the Urals, but became incorporated into the Ugric stock in the Trans-Urals region probably in the same way as N1a-Z1936, by infiltration from (and acculturation of) hunter-gatherers of forest and taiga cultures.

NOTE. You can read more about the infiltration of N1a lineages in the recent post Corded Ware—Uralic (IV): Hg R1a and N in Finno-Ugric and Samoyedic expansions, and in the specific sections for each Uralic group in A Clash of Chiefs.

haplogroup-n1a-M2118
Frequency-Distribution Maps of Individual Sub-clades of hg N3a2, by Ilumäe et al. (2016).

Conclusion

The picture offered by the paper on Hungarian Conquerors, while in line with historical accounts of multi-ethnic tribes incorporating regional lineages, shows nevertheless patrilineal clans clearly associated with Uralic peoples, in a distribution which could have been easily inferred from ancient Trans-Uralian forest-steppe cultures and modern samples (even regarding I2a-L621).

In spite of this, there is a great deal of discussion in the paper about specific N1a subclades in Hungarian conquerors, while the presence of R1a-Z280 (among early Magyar elites!) is interpreted, as always, as recently acculturated Slavs. This is sadly coupled with the simplistic identification of I2a-L621 as of local origin around the Carpathians.

The introduction of the paper to the history of Hungarians is also weird, for example giving credibility to the mythic accounts of the Árpád dynasty’s origin in Attila, which is in line, I guess, with what the authors intended to support all along, i.e. the association of Magyars with Turks from the Eurasian steppes, which they are apparently willing to achieve by relating them to haplogroup R1a-Z93

The conclusion is thus written to appease modern nation-building myths more than anything else, like many other papers before it:

It is generally accepted that the Hungarian language was brought to the Carpathian Basin by the Conquerors. Uralic speaking populations are characterized by a high frequency of Y-Hg N, which have often been interpreted as a genetic signal of shared ancestry. Indeed, recently a distinct shared ancestry component of likely Siberian origin was identified at the genomic level in these populations, modern Hungarians being a puzzling exception36. The Conqueror elite had a significant proportion of N Hgs, 7% of them carrying N1a1a1a1a4-M2118 and 10% N1a1a1a1a2-Z1936, both of which are present in Ugric speaking Khantys and Mansis. At the same time none of the examined Conquerors belonged to the L1034 subclade of Z1936, while all of the Khanty Z1936 lineages reported in 37 proved to be L1034 which has not been tested in the 23 study. Population genetic data rather position the Conqueror elite among Turkic groups, Bashkirs and Volga Tatars, in agreement with contemporary historical accounts which denominated the Conquerors as “Turks”. This does not exclude the possibility that the Hungarian language could also have been present in the obviously very heterogeneous, probably multiethnic Conqueror tribal alliance.

So, back to square one, and new circular reasoning: If ancient populations from north-eastern Europe believed to represent ancient Finno-Ugrians are of R1a-Z645 lineages, it’s because they were not Finno-Ugric speakers. If ancient and modern populations known to be of Finno-Ugric language show clear connections with R1a-Z645, it’s because they are “multi-ethnic”.

The only stable basis for discussion in genetic papers, apparently, is the own making of geneticists, with their traditional 2000s “R1a=Indo-European” and “N1c=Uralic”, coupled with national beliefs. It does not matter how many predictions based on that have been proven wrong, or how many predictions based on the Corded Ware = Uralic expansion have been proven right.

Related

Origins of equine dentistry in Mongolia in the early first millennium BC

New paper (behind paywall) Origins of equine dentistry, by Taylor et al. PNAS (2018).

Interesting excerpts (emphasis mine):

The practice of horse dentistry by contemporary nomadic peoples in Mongolia, coupled with the centrality of horse transport to Mongolian life, both now and in antiquity, raises the possibility that dental care played an important role in the development of nomadic life and domestic horse use in the past. To investigate, we conducted a detailed archaeozoological study of horse remains from tombs and ritual horse inhumations across the Mongolian Steppe, assessing evidence for anthropogenic dental modifications and comparing our findings with broader patterns in horse use and nomadic material culture.

We conducted a detailed study of archaeological horse collections spanning the past 3,200 y, including those from the Late Bronze Age DSK complex (ca. 1200–700 BCE, n = 70), Early Iron Age Slab Burial culture (ca. 700–300 BCE, n = 4), Pazyryk culture (ca. 600–200 BCE, n = 2), Late Iron Age Xiongnu Empire (ca. 200 BCE–200 CE, n = 3), Early Middle Ages post-Xiongnu period (ca. 100–550 CE, n = 3), and Turkic Khaganate (ca. 600–800 CE, n = 3).

horse-riding-mongolia
A (top): Contemporary Mongolian herder engaged in horseback riding, using left-handed rein position causing asymmetric pressures to the horse’s skull. Photo by Orsoo Bayarsaikhan. B(center) contemporary Mongolian horse skulls, showing asymmetric and skewed thinning to the nasal bones caused by bridle pressure. C(bottom) Asymmetric deformation to the cranial bones of a Deer Stone-Khirigsuur horse (left), alongside an early Middle Ages horse with a similar feature (right). Modified from Taylor and Tuvshinjargal (2018).

Discussion

This Late Bronze Age dental modification counts among the earliest documented instances of equine veterinary care, and the oldest known evidence for horse dentistry. At first glance, the detailed historical record of early equine veterinary care in places such as China, Greece, Rome, and Syria, which spans the late second millennium BCE through the early centuries CE (11, 15, 16), might imply that equine dentistry emerged in the sedentary civilizations of the Old World. However, the earliest textual references describe only nonsurgical medicinal treatments and make few mentions of oral health (11). Recent archaeological discoveries suggest that human care of domestic animals was practiced by hunter-gatherers as far back as the Paleolithic (46), and that pastoralists may have occasionally practiced surgical procedures on domestic animals as early as the Neolithic in Europe (47). The evidence presented here indicates that horse dentistry was developed by nomadic pastoralists living on the steppes of Mongolia and northeast Asia during the Late Bronze Age, concurrent with the local adoption of the metal bit and many centuries before the first mention of dental practices in historical accounts from sedentary Old World civilizations.

Our results reveal a fundamental link between equine dentistry and the emergence of horsemanship in the steppes of Eurasia. At the turn of the first millennium BCE, militarized, horse-mounted peoples reshaped the social and economic landscape of many areas of the Eurasian continent. Conflagrations with equestrian peoples, such as those between the Persian Empire and the Pontic “Scythians,” plagued alluvial civilizations from the Near East to India and China, while large-scale movements of people linked East and West in never-before-seen ways (48). The archaeological and historical records indicate that the earliest horseback riding was accomplished without stirrups or saddles, and probably using only bitless or organic-mouthpiece bridles (49, 50). The bronze snaffle bit, and the improved control it provided, was a key technological development that enabled the use of horseback riding for more stressful and difficult activities, such as long-distance transportation and warfare (32). We argue that these technological improvements in horse control were preceded and sustained by innovations in veterinary dentistry by nomadic peoples living in the continental interior. By increasing herd survival and mitigating behavioral and health issues caused by horse equipment, innovations in equine dentistry improved the reliability of horseback riding for ancient nomads, enabling horses to be used for nonpastoral activities like warfare, high-speed riding, and distance travel.

damage-tooth-horse
Damage to the retained wolf tooth in a 4-5 year old mummified horse, dating to the 2-4th centuries CE from the site of Urd Ulaan-Uneet in western Mongolia

Conclusion

Archaeozoological data from Mongolian horses indicate that the nomadic practice of equine dentistry dates back more than 3,000 y to the DSK complex, a Late Bronze Age culture associated with the first mounted horseback riding and mobile pastoralism in eastern Eurasia. Attempted removal of deciduous incisors through sawing of the exterior suggests experimentation with dental extraction, but not the removal of wolf teeth. The appearance of extracted first premolars in the first millennium BCE coincides with the arrival of metal bits in the archaeological record and oral trauma linked with metal bit use, suggesting that innovations in dental practice were an adaptation to the mechanical changes in horse equipment. These bronze and metal bits provided greater control over the horse, facilitating the development of military uses for the horse, but also introduced new dental problems with the first premolar. Our results indicate that, coincident with the earliest evidence for metal bit use, wolf tooth extraction was practiced in Mongolia by ca. 750 BCE and continued through the early Middle Ages. These results push back the earliest dates for equine dentistry by more than a millennium and suggest that nomadic peoples developed key innovations in veterinary care that enabled more sophisticated horse control, ultimately changing the structure of communication, exchange, and military power in ancient Eurasia.

Related

Genetic history of admixture across inner Eurasia; Botai shows R1b-M73

y-haplogroup-r1b-p343

Open access Characterizing the genetic history of admixture across inner Eurasia, by Jeong et al. (2018).

Abstract (emphasis mine):

The indigenous populations of inner Eurasia, a huge geographic region covering the central Eurasian steppe and the northern Eurasian taiga and tundra, harbor tremendous diversity in their genes, cultures and languages. In this study, we report novel genome-wide data for 763 individuals from Armenia, Georgia, Kazakhstan, Moldova, Mongolia, Russia, Tajikistan, Ukraine, and Uzbekistan. We furthermore report genome-wide data of two Eneolithic individuals (~5,400 years before present) associated with the Botai culture in northern Kazakhstan. We find that inner Eurasian populations are structured into three distinct admixture clines stretching between various western and eastern Eurasian ancestries. This genetic separation is well mirrored by geography. The ancient Botai genomes suggest yet another layer of admixture in inner Eurasia that involves Mesolithic hunter-gatherers in Europe, the Upper Paleolithic southern Siberians and East Asians. Admixture modeling of ancient and modern populations suggests an overwriting of this ancient structure in the Altai-Sayan region by migrations of western steppe herders, but partial retaining of this ancient North Eurasian-related cline further to the North. Finally, the genetic structure of Caucasus populations highlights a role of the Caucasus Mountains as a barrier to gene flow and suggests a post-Neolithic gene flow into North Caucasus populations from the steppe.

Interesting excerpts:

On North Eurasians

In a PCA of Eurasian individuals, we find that PC1 separates eastern and western Eurasian populations, PC2 splits eastern Eurasians along a north-south cline, and PC3 captures variation in western Eurasians with Caucasus and northeastern European populations at opposite ends (Figure 2A and Figures S1-S2). Inner Eurasians are scattered across PC1 in between, largely reflecting their geographic locations. Strikingly, inner Eurasian populations seem to be structured into three distinct west-east genetic clines running between different western and eastern Eurasian groups, instead of being evenly spaced in PC space. Individuals from northern Eurasia, speaking Uralic or Yeniseian languages, form a cline connecting northeast Europeans and the Uralic (Samoyedic) speaking Nganasans from northern Siberia (“forest-tundra” cline). Individuals from the Eurasian steppe, mostly speaking Turkic and Mongolic languages, are scattered along two clines below the forest-tundra cline. Both clines run into Turkic- and Mongolic-speaking populations in southern Siberia and Mongolia, and further into Tungusic-speaking populations in Manchuria and the Russian Far East in the East; however, they diverge in the west, oneheading to the Caucasus and the other heading to populations of the Volga-308 Ural area (the “southern steppe” and “steppe-forest” clines, respectively; Figure 2 and Figure S2).
(…)
The forest-tundra cline populations derive most of their eastern Eurasian ancestry from a component most enriched in Nganasans, while those on the steppe-forest and southern steppe clines have this component together with another component most enriched in populations from the Russian Far East, such as Ulchi and Nivkh. The southern steppe cline groups are distinct from the others in their western Eurasian ancestry profile, in the sense that they have a high proportion of a component most enriched in Mesolithic Caucasus hunter-gatherers (“CHG”) and Neolithic Iranians (“Iran_N”) and frequently harbor another component enriched in South Asians (Figure S4).

north-eurasian-uralic
qpAdm-based admixture models for the forest-tundra cline populations. For populations to the east of the Urals (Enets, Selkups, Kets, and Mansi), EHG+Yamnaya+Nganasan provides a good fit, except for Mansi, for which adding WHG significantly increases the model fit. For the rest of the groups, WHG+LBK_EN+Yamnaya+Nganasan in general provides a good fit. 5 cM jackknifing standard errors are marked by the horizontal bar.

For the forest-tundra cline populations, for which currently no relevant Holocene ancient genomes are available, we took a more generalized approach of using proxies for contemporary Europeans: WHG, WSH (represented by “Yamnaya_Samara”), and early Neolithic European farmers (EEF; represented by “LBK_EN”; Table S2). Adding Nganasans as the fourth reference, we find that most Uralic-speaking populations in Europe (i.e. west of the Urals) and Russians are well modeled by this four-way admixture model (χ 2 p ≥ 0.05 for all but three groups; Figure 5 and Table S8). Nganasan-related ancestry substantially contributes to their gene pools and cannot be removed from the model without a significant decrease in model fit (4.7% to 29.1% contribution; χ 2 p ≤ 1.12×10-8; Table S8). The ratio of contributions from three European references varies from group to group, probably reflecting genetic exchange with neighboring non-Uralic groups. For example, Saami from northern Fennoscandia contain a higher WHG and lower WSH contribution (16.1% and 41.3%, respectively) than Udmurts or Besermyans from the Volga river region do (4.9-6.6% and 50.7-53.2%, respectively), while the three groups have similar amounts of Nganasan-related ancestry (25.5-29.1%).

The Caucasus Mountains form a barrier to gene flow

By applying EEMS to the Caucasus region, we identify a strong barrier to gene flow separating North and South Caucasus populations. This genetic barrier coincides with the Greater Caucasus mountain ridge even to small scale: a weaker barrier in the middle, overlapping with Ossetia, matches well with the region where the ridge also becomes narrow. We also observe weak barriers running in the north-south direction that separate northeastern populations from northwestern ones. Together with PCA, EEMS results suggest that the Caucasus Mountains have posed a strong barrier to human migration.

caucasus-genetic-barrier
The Greater Caucasus mountain ridge as a barrier to 856 genetic exchange. Barriers (brown) and conduits (green) of gene flow around the Caucasus region are estimated by the EEMS program. Red diamonds show the location of vertices to which groups are assigned. A strong barrier to gene flow overlaps with the Greater Caucasus mountain ridge reflecting the genetic differentiation between populations of the north and south of the Caucasus. The barrier becomes considerably weaker in the middle where present-day Ossetians live.

On the Botai individuals

The Y-chromosome of the male Botai individual (TU45) belongs to the haplogroup R1b (Table 411 S6). However, it falls into neither a predominant European branch R1b-L5165 nor into a R1b-GG400 branch found in Yamnaya individuals. Thus, phylogenetically this Botai individual should belong to the R1b-M73 branch which is frequent in the Eurasian steppe (Figure S9). This branch was also found in Mesolithic samples from Latvia as well as in numerous modern southern Siberian and Central Asian groups.

The Botai genomes provide a critical snapshot of the genetic profile of pre-Bronze Age steppe populations. Our admixture modeling positions Botai primarily on an ancient genetic cline of the pre-Neolithic western Eurasian hunter-gatherers: stretching from the post-Ice Age western European hunter-gatherers (e.g. WHG) to EHG in Karelia and Samara to the Upper Paleolithic southern Siberians (e.g. AG3). Botai’s position on this cline, between EHG and AG3, fits well with their geographic location and suggests that ANE-related ancestry in the East did have a lingering genetic impact on Holocene Siberian and Central Asian populations at least till the time of Botai.
(…)
The most recent clear connection with the Botai ancestry can be found in the Middle Bronze Age Okunevo individuals (Figure S6C). In contrast, additional EHG-related ancestry is required to explain the forest-tundra populations to the east of the Urals (Figure 5 and Table S8). Their multi-way mixture model may in fact portrait a prehistoric two-way mixture of a WSH population and a hypothetical eastern Eurasian one that has an ANE-related contribution higher than that in Nganasans. Botai and Okunevo individuals prove the existence of such ANE ancestry-rich populations. Pre-Bronze Age genomes from Siberia will be critical for testing this hypothesis.

botai-pca
The first two PCs summarizing the genetic structure within 2,077 Eurasian individuals. The two PCs generally mirror geography. PC1 separates western and eastern Eurasian populations, with many inner Eurasians in the middle. PC2 separates eastern Eurasians along the north-south cline and also separates Europeans from West Asians. Ancient individuals (color-filled shapes), including two Botai individuals, are projected onto PCs calculated from present-day individuals.

So, to sum up:

  • Northern Eurasia forms a Uralic – Yeniseian cline from east to west, with contribution from Steppe, WHG, and Siberian ancestry. Siberian ancestry is represented by Palaeo-Siberian Nganasans, who adopted Samoyedic quite late. It was already known that the different waves of Siberian ancestry are too late and do not represent the spread of Uralic languages, so that leaves us with Steppe and WHG.
  • The Caucasus Mountains were a long-lasting prehistoric barrier to gene flow (as recently shown in Y-DNA, too).
  • The Botai sample (ca. 3632-3100 BC) represents thus the furthest east that R1b-P297 subclades had expanded (we did know that, and that they didn’t have close genetic links with Khvalynsk, so the haplogroup spread there probably much earlier). It expanded R1b-M269’s sister clade R1b-M73 (also found in the Baltic region), and the Botai are on the ‘eastern’ end of an ancient genetic cline stretching from WHG to EHG to Afontova Gora.

EDIT (23 MAY 2018) Both samples share mtDNA, and the male one shares Y-DNA, with those reported in Damgaard et al. (Nature 2018); although dates are slightly different (3371-3354 calBC for BOT 14), it is within the range given for this one; for the female, the dates are similar (3521-3377 calBC for BOT2016, 3517-3367 cal. BCE for this one). The lack of data on their origin may point to the fact that we only have different bone samples from the same two Botai individuals. So probably still 50% R1b-M73 (with the other 50% being N2* from BOT15)…

It seems therefore not only that R1b-M269 is bound to split from the parent haplogroup in or around the steppe or forest-steppe: the Mesolithic spread of haplogroup R1b in North Eurasia is wider and its relevance thus greater than previously thought.

We may need to rethink the role of haplogroup R1a in spreading EHG and Indo-Uralic from east to west…

Featured image, from the supplementary materials: Frequency distribution map of the Y-chromosomal haplogroup R1b-P343(xM269) identified in the Eneolithic Botai individual. All modern Eurasian samples with this haplogroup tested to date for the downstream markers fall into R1b-M73 branch, suggesting Botai sample be one of its earliest representatives.

Related:

Y chromosome C2*-star cluster traces back to ordinary Mongols, rather than Genghis Khan

c2-haplogroup-map

Article behind paywall, Whole-sequence analysis indicates that the Y chromosome C2*-Star Cluster traces back to ordinary Mongols, rather than Genghis Khan, by Wei, Yan, Lu, et al. Eur J Hum Genet (2018); 26:230–237

Abstract:

The Y-chromosome haplogroup C3*-Star Cluster (revised to C2*-ST in this study) was proposed to be the Y-profile of Genghis Khan. Here, we re-examined the origin of C2*-ST and its associations with Genghis Khan and Mongol populations. We analyzed 34 Y-chromosome sequences of haplogroup C2*-ST and its most closely related lineage. We redefined this paternal lineage as C2b1a3a1-F3796 and generated a highly revised phylogenetic tree of the haplogroup, including 36 sub-lineages and 265 non-private Y-chromosome variants. We performed a comprehensive analysis and age estimation of this lineage in eastern Eurasia, including 18,210 individuals from 292 populations. We discovered that the origin of populations with high frequencies of C2*-ST can be traced to either an ancient Niru’un Mongol clan or ordinary Mongol tribes. Importantly, the age of the most recent common ancestor of C2*-ST (2576 years, 95% CI = 1975–3178) and its sub-lineages, and their expansion patterns, are consistent with the diffusion of all Mongolic-speaking populations, rather than Genghis Khan himself or his close male relatives. We concluded that haplogroup C2*-ST is one of the founder paternal lineages of all Mongolic-speaking populations, and direct evidence of an association between C2*-ST and Genghis Khan has yet to be discovered.

This is a great example of the potential mistake that one can make in assessing leading clans of population expansions from the perspective of the renown case of the Uí Néill clan’s expansion in Ireland.

Just some days ago I wrote about the first Hungarian dynasty’s haplogroup R1a, and the potential association of other Ugric-speaking clans with R1a subclades, so let’s wait and see if future papers on other ancient Hungarian clans and Hungarian settlers bring surprises…

Related: