Dark pigmentation of Eneolithic and Bronze Age kurgan groups from eastern Europe

This is a very exciting new study that seems to parallel some results from early west Europeans. The authors invoke selection as a possible cause for the massive change in frequency between the Bronze Age and present-day Ukrainians.

An invocation of selection as an explanation requires evidence population continuity, otherwise changes in allele frequency may involve migration of a new frequency-differentiated new population; for example, the massive change in pigmentation in North America over the last 500 years is not due to selection but to migration of Europeans. The authors cannot reject population continuity on the basis of mtDNA haplogroup frequencies, although autosomal data may be more informative for that purpose.

In any case, the fact that the limited sample from western Europe and the much more extensive sample from eastern Europe both show a darker pigmentation than modern Europeans does suggest that interesting changes happened in Europe over the last few thousand years and samples from more recent time periods may better determine the pace of this change.

From the paper:

In sum, a combination of selective pressures associated with living in northern latitudes, the adoption of an agriculturalist diet, and assortative mating may sufficiently explain the observed change from a darker phenotype during the Eneolithic/Early Bronze age to a generally lighter one in modern Eastern Europeans, although other selective factors cannot be discounted. The selection coefficients inferred directly from serially sampled data at these pigmentation loci range from 2 to 10% and are among the strongest signals of recent selection in humans.

UPDATE: 

The classical Greeks did of course notice that the inhabitants of the north Pontic hinterland, collectively known as Scythians, were extraordinarily light-pigmented. This would imply that major pigmentation change occurred in the steppe over a time span of Bronze Age-Classical Antiquity rather than Bronze Age-present; this would imply even higher selection coefficients (if selection over a population exhibiting continuity is at play).

The Scythians were also thought to be recent arrivals from the east so it is not clear if they were descended from the Bronze Age population of eastern Europe; the crazy selection coefficients that would need to be assumed if there was indeed population continuity might imply that Herodotus got it right again, and the Scythians did in fact arrive from elsewhere. That would of course also imply that people from Central Asia and Siberia (where the Scythians may have come from) were originally lighter than Europeans which does find support from an older study on southern Siberian remains. Ironically, if that is the case, it would mean that the famous light-pigmented mummies of different parts of Inner Asia may not be long-lost European descendants -- as it has sometimes been presumed on the basis of modern-day clines of pigmentation. As usual, ancient DNA continues to surprise.

PNAS doi: 10.1073/pnas.1316513111

Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y

Sandra Wilde et al.

Eye, hair, and skin pigmentation are highly variable in humans, particularly in western Eurasian populations. This diversity may be explained by population history, the relaxation of selection pressures, or positive selection. To investigate whether positive natural selection is responsible for depigmentation within Europe, we estimated the strength of selection acting on three genes known to have significant effects on human pigmentation. In a direct approach, these estimates were made using ancient DNA from prehistoric Europeans and computer simulations. This allowed us to determine selection coefficients for a precisely bounded period in the deep past. Our results indicate that strong selection has been operating on pigmentation-related genes within western Eurasia for the past 5,000 y.

Link

mtDNA of Bronze Age pastoral nomads of Ukraine

This is just a presentation, so it will be interesting to find an alternative source for it. Still, it seems to agree with other evidence about the hybrid origin of Bronze Age European steppe nomads. A detailed look at the evidence from the Balkans, north Pontic steppe, and the Caucasus (and perhaps also the trans-Caspian region) will determine on who went where and when.

Genetic Analysis of Ancient Human Remains from the Bronze Age Nomadic Steppe Cultures of Ukraine

Jeff Pashnick, Grand Valley State University

During the transition between the late Neolithic and the Early Bronze Age (EBA) proto-Indo-European languages began to spread from southeastern steppes (prairielands) westwards into Europe. Southern Ukraine (North Pontic Region, NPR) was the meeting place between the Old Europe and steppe nomadic cultures. Using mitochondrial DNA (mtDNA), we tested ancient human remains from the EBA cultures from the NPR to determine if there was genetic evidence for the mingling of these cultures. Our data shows mtDNA lineages (haplogroups) of nomadic pastoralists in the NPR to have mainly common haplogroups with European hunter-gatherer cultures, with an inclusion of haplogroups common to farming cultures of Europe. The similarities in the haplogroup composition between European Neolithic hunter-gatherers and the NPR steppe pastoralists suggests that they share a common genetic past, in part influenced by the neighboring farmers and in part stemming from the Mesolithic native European ancestry.

Link

A look at Y chromosomes of Romania via Count Dracula

In short: researchers tried to see whether they could identify a specific Y chromosome lineage associated with the House of Basarab in Romania, the most famous member of which is Vlad the Impaler, an inspiration for the mythical Count Dracula. To do this, they tested Basarab-surnamed individuals, as well as the general Romanian population.

The whole exercise was, in a sense, a failure, since it neither disclosed a Basarab-specific lineage, nor resolved the historical question about the origin of the House of Basarab (Vlach or Cuman). But, it gave us some wonderful new data on Romania that is, of course, quite welcome.

This seems like a good candidate for a future ancient DNA study, assuming of course, that Vlad and his family are still in their final resting place, and there are brave enough researchers to disturb them (j/k).

On a more serious note, the authors correctly state that even if the Basarab house was originally Turkic, they could still have carried West Eurasian chromosomes, since incoming Turkic groups in Europe were not purely Mongoloid like their more remote ancestors. On the other hand, I note that most of the Basarab-surnamed individuals belonged to E-V13, I-P37.2, J-M241 all of which are almost certainly native Romanian. If one of them carries the original chromosome, then the odds are in favor of a Romanian origin, although nothing short of ancient DNA work can resolve the issue, assuming that's possible.

Table S1 contains the new Romanian data, and Table S2 data from surrounding populations (Hungary, Bulgaria, Ukraine).

PLoS ONE 7(7): e41803. doi:10.1371/journal.pone.0041803

Y-Chromosome Analysis in Individuals Bearing the Basarab Name of the First Dynasty of Wallachian Kings

Begoña Martinez-Cruz et al.

Vlad III The Impaler, also known as Dracula, descended from the dynasty of Basarab, the first rulers of independent Wallachia, in present Romania. Whether this dynasty is of Cuman (an admixed Turkic people that reached Wallachia from the East in the 11th century) or of local Romanian (Vlach) origin is debated among historians. Earlier studies have demonstrated the value of investigating the Y chromosome of men bearing a historical name, in order to identify their genetic origin. We sampled 29 Romanian men carrying the surname Basarab, in addition to four Romanian populations (from counties Dolj, N = 38; Mehedinti, N = 11; Cluj, N = 50; and Brasov, N = 50), and compared the data with the surrounding populations. We typed 131 SNPs and 19 STRs in the non-recombinant part of the Y-chromosome in all the individuals. We computed a PCA to situate the Basarab individuals in the context of Romania and its neighboring populations. Different Y-chromosome haplogroups were found within the individuals bearing the Basarab name. All haplogroups are common in Romania and other Central and Eastern European populations. In a PCA, the Basarab group clusters within other Romanian populations. We found several clusters of Basarab individuals having a common ancestor within the period of the last 600 years. The diversity of haplogroups found shows that not all individuals carrying the surname Basarab can be direct biological descendants of the Basarab dynasty. The absence of Eastern Asian lineages in the Basarab men can be interpreted as a lack of evidence for a Cuman origin of the Basarab dynasty, although it cannot be positively ruled out. It can be therefore concluded that the Basarab dynasty was successful in spreading its name beyond the spread of its genes.

Link

Population strata in the West Siberian plain (Baraba forest steppe)

Also from the Population Dynamics in Prehistory and Early History (2012) volume, this is an awesome ancient DNA study which dissects a succession of archaeological cultures stretching from the beginning of the metal ages to the beginning of the Iron Age in a small region of West Siberia. As the authors write:

Our work is devoted to the analysis of human migration processes that occurred during the Bronze Age (4th–early 1st millennium BC) in the forest steppe zone between the Ob and Irtysh rivers (about 800 km from west to east). This area, known as Baraba forest steppe, stretches over 200 km from the taiga zone in the north to the steppes in the south.

The careful examination of the sequence of cultures, combining ancient mtDNA and physical anthropology paints a very compelling picture of the changes that occurred in the span of a few millennia in the Baraba forest steppe. The authors give the map on the left, with the caption: "Fig. 5 | Location of ancient human groups with a high frequency of mtDNA haplogroups U5, U4 and U2e lineages. The area of Northern Eurasian anthropological formation is marked by yellow region on the map (References: 1 Bramanti et al., 2009; 2Malmstrom et al., 2009; 3 Krause et al., 2010; 4 this study)".


The northern Eurasian anthropological formation actually combines eastern and western Eurasian features and may correspond to the Proto-Uralic type. Researchers have clashed about the origins of this population element, with some considering it a third Eurasian race that evolved independently of Caucasoids and Mongoloids, others assigning it to a much diverged branch of one of the two major Eurasian races, and still others considering it the product of admixture between east and west.


All indications are that the type, unlike the Caucasoid-Mongoloid mixtures that took place in Central Asia in the last 2 millennia, is of more ancient vintage, and represents an anthropological element that was indeed of Caucasoid-Mongoloid origins, but in the rather remote past. The authors write with respect to the most ancient periods:

In contrast to the occupation of the southern region of West Siberia, modern humans arrived in the Ob-Irtysh interfluve relatively late, at the end of the Pleistocene, about 13–14 thousand years ago (Okladnikov, Molodin, 1983; Petrin, 1986). The absence of burials dating back to this period in the region does not allow us to conduct a biological investigation of this earliest population. The most ancient anthropological material available is from the Neolithic period (4th–5th millennium BC). 

And, what of the earliest available material?

The anthropological analysis of the material allowed us to detect a specific craniological type in the Baraba population, which was assigned to one of the anthropological formations discovered by V.V. Bunak in 1956 through the analysis of Neolithic materials from the northern forest zone of the East European Plain. Bunak called it the “northern Eurasian anthropological formation” (Bunak, 1956).

This anthropological type developed in a zone that is intermediate to the geographic areas occupied by the classic Caucasoids and the Mongoloids. The exists substantial anthropological evidence showing a wide geographic distribution of this anthropological formation: from the Trans-Urals forest and the Barabian province of Western Siberia in the east to Karelia and the Baltic in the west (Chikisheva, 2010).

The mtDNA evidence seems to support the anthropological assessment:

We have analyzed 18 mtDNA samples from the Ust-Tartas population to date (Fig. 3). The results obtained thus far allow us to draw several preliminary conclusions about the genetic background in the region in the beginning of the Bronze Age. By the Early Metal Period the mtDNA pool structure was already mixed and consisted of both Western and Eastern Eurasian haplogroups in nearly equal proportions. The eastern Eurasian mtDNA cluster was represented by Haplogroups A, C, Z, D, which are most typical of modern and perhaps ancient populations located in the east of the region studied. Haplogroups C and D were predominantly represented by widely distributed root haplotypes. A lineage of Haplogroup A that was detected in two Ust-Tartas samples represents a subcluster that is apparently characteristic of West Siberia and the Volga-Ural Region. The observed presence of Haplogroup Z lineages with a high frequency in the Ust-Tartas group was unexpected, since these lineages are nearly absent in the gene pool of modern indigenous West Siberian populations.

It is worth noting that the Western Eurasian mtDNA haplogroups in the Ust-Tartas series were represented only by Haplogroup U lineages, and specifically by the three subgroups – U2e, U4, U5a1. These results are in agreement with previous data indicating that Haplogroup U lineages (particularly Subgroups U5 and U4) predominated in Eastern, Central and Northern European hunter-gatherer groups from 14000 to 4000 years ago (Bramanti et al., 2009; Malmstrom et al., 2009), and possibly in earlier periods (Krause et al., 2010). The geographic area within which this genetic feature is observed appears to be broad (Fig. 5). Apparently, Baraba was near the eastern periphery of this area.

We now have evidence of the zone of U dominance extending from Iberia in the west and all the way to Lake Baikal in the east. But, this zone is not homogeneous: its western, European, end appears to have lacked the East Eurasian lineages, while starting from Ukraine and to the East the U types were supplemented by the Mongoloid lineages.

But, there was structure within the U zone itself: according to Lillie et al. (same volume) in Ukraine during the 6th millennium BC, the West Eurasian types were represented by U1 and U3, a different mix than in the Baraba forest steppe, and haplogroup T was also present, while of the Mongoloid haplogroups only C was present.

As we head into the Bronze Age, the population of the region displayed signs of continuity:

The genetic analysis of the Odinovo and Krotovo groups (10 and 6 samples, respectively) (Fig. 3) did not reveal any differences between them and the previous Ust-Tartas group, such as the presence of new mtDNA haplogroups. The mtDNA pool structure was still mixed. The East Eurasian haplogroups were represented by the D, C, Z (in both the Odinovo and Krotovo groups) and A (in the Krotovo group) haplogroups. The East Eurasian lineages identified were phylogenetically close (lineages of haplogroups A, C, Z) or even identical (D haplogroup, 16223–16362 lineages) to the samples from the Ust-Tartas group. The West Eurasian part of the samples were represented by the U5a1 (Odinovo group) and U2e (Krotovo group) haplogroup lineages.  

Although only a small series of samples have been investigated thus far, the data obtained reveal continuity between the Odinovo and Krotovo populations and the earlier Ust-Tartas group. These findings are consistent with the autochthonous development of the Baraba populations during the Early and the beginning of the Middle Bronze Age, as well as with the anthropological evidence.  

It is during the Middle and Late Bronze ages that we begin to say the first intrusive lineage into the native population mix:

The anthropological analysis of the West Siberian Andronovo population shows at least four craniological types. Three types are related to the Palaeocaucasian race and are represented by proto-European anthropological type variants. The fourth, Mongoloid, component is autochthonous. The most intensive interactions between the Andronovo migrants and the indigenous populations apparently occurred in the Baraba forest steppe and the right bank of the upper Ob River (Chikisheva and Pozdnyakov, 2003).  

To investigate the putative impact of Andronovo migrants on the mtDNA pool structure of the indigenous populations in Baraba, mtDNA samples from the Late Krotovo (n=20) and Andronovo (n=20) groups in this region were analyzed (Fig. 3) and compared to recently published data (n=10) (Keyser et al., 2009) and our own unpublished data (n=6) on mtDNA lineages from West Siberian Andronovo populations located outside the Baraba forest steppe.  

The genetic influence of migrants can be detected by the appearance of a new mtDNA haplogroup that was absent in the populations preceding the migration wave. This new mtDNA haplogroup, a West Eurasian T haplogroup, was detected in the Late Krotovo population. The T haplogroup appears simultaneously (with a 15 % frequency) in the Krotovo and Andronovo groups, but was completely absent in all preceding Baraba populations. We therefore consider the appearance of the Haplogroup T-lineage as the most likely genetic marker of the Andronovo migration wave to the region.  

This assumption is confirmed by mtDNA studies of Andronovo groups from other West Siberian areas. Haplogroup T lineages were found, with a frequency of 25 %, in the samples (n=16) taken from two Andronovo groups from the Krasnoyarsk and upper Ob River areas.  

We also detected another remarkable feature in the mtDNA pool of the Andronovo group from Baraba. Most mtDNA samples belonged to haplogroups, such as the East Eurasian A and C haplogroups, that are typical of preceding Baraba indigenous populations. Still, these haplogroups were not found in the other West Siberian Andronovo groups. Apparently, the Andronovo group from Baraba assimilated the aboriginal Krotovo population, from which it obtained these East-Eurasian mtDNA haplogroups. Obviously, there was reciprocal genetic contact between the migrant and indigenous groups in the region. 

...

A small but informative series of mtDNA samples from the Baraba Late Bronze Age culture population (n=5) was analyzed (Fig. 3), revealing the presence of MtDNA lineages (East Eurasian A and C lineages) that mark the genetic continuity with aboriginal Baraba groups. At the same time, the series includes the Haplogroup-T lineage, which we believe marks the Andronovo migration wave to West Siberia. Our data is therefore consistent with the putative origin of the West Siberian Late Bronze Culture population as the result of interaction between the Baraba indigenous genetic substrate and the newly arrived group.

It is now clear that the Andronovo groups moving into the area possessed mtDNA haplogroup T and assimilated the locals with their U+East Eurasian mix. It is of course interesting that haplogroup T is the only non-U lineage found in the aforementioned study of Mariupol-type cemeteries from Neolithic Ukraine.

The earliest occurrence of haplogroup T is in the Pre-Pottery Neolithic B of the Near East (Tell Hallula), and this haplogroup appears all over the place in Neolithic Europe. While a recent article has suggested a pre-Neolithic dispersal of T subclades into Europe, on the basis of modern populations, this hypothesis is difficult to reconcile with the ancient DNA data.


Pending new discoveries, it appears likely that mtDNA haplogroup T represents a Neolithic entrant into the boreal zone of U dominance. This has, of course, substantial implications in the context of J.P. Mallory's concept of fault lines, as it demonstrates that the steppe populations did not evolve in isolation, but the dominant lineage in the Andronovo groups was a late entrant into the indigenous U-zone of the eastern European plain.

But, the story doesn't end here:

The analysis of mtDNA samples from the Chicha-1 population revealed some interesting patterns. Crucial changes in the composition of mtDNA haplogroups in the gene pool were observed as compared to the earlier Baraba groups studied (Fig. 3). Dominance of Western Eurasian haplogroups and the near absence of East Eurasian were observed. Additionally, several new West Eurasian haplogroups appeared in the region, including Haplogroups U1a, U3, U5b, K, H, J and W.  

The phylogeographic analysis suggests that the distribution and diversification centres of several of these mtDNA haplogroups and specific lineages are located on the west and south west of the Baraba forest steppe region, on the territory corresponding to modern-day Kazakhstan and Western Central Asia (Fig. 10). Apparently, the migration wave from the south strongly influenced the gene pool of the Baraba population in the transitional period from the Bronze to the Early Iron Age. The impact of the northern human groups was probably less evident in the south of the Baraba forest steppe, at least at the mtDNA level. 

The drastic appearance of a purely Caucasoid population at the Iron Age from a southern, east-Caspian origin perhaps corresponds to the arrival of the first steppe Iranians. The vector of proposed migration is reasonable, if we consider both the likely Indo-Iranian homeland east of the Caspian, as well as the literary evidence for Scythian mobility during this period.

All in all, this is commendable research which allows us to intuit a sequence of events:

• An early mixture zone between Caucasoids and Mongoloids
• The Bronze Age arrival of mtDNA-T bearing Andronovo groups, the first pastoralists entering the zone of U+East Eurasian boreal hunter-gatherers; these Caucasoid peoples admixed with the natives of the mixture zone.
• The early Iron Age arrival of a full-blown set of Caucasoid mtDNA lineages from the south paving the way for the Iranian Scytho-Sarmatian period

Human migrations in the southern region of the West Siberian Plain during the Bronze Age: Archaeological, palaeogenetic and anthropological data


Molodin, Vyacheslav I. et al.


In this paper we present archaeological and anthropological data on human migrations in the Western Siberian foreststeppe region during the Bronze Age (4th–beginning of 1st millennium BC). These data, accumulated over forty years of intensive research in the region, are compared to new results showing the diversity of mitochondrial DNA (mtDNA) lineages in this region during that period (92 mtDNA samples from seven ancient human groups). Preliminary analyses have demonstrated the usefulness of ancient DNA in tracing and unravelling patterns of past human migrations.  


Link


Prehistoric populations of Ukraine: Migration at the later Mesolithic to Neolithic transition


Lillie, Malcolm C. et al.


This paper focuses on the identification of population movements during the Mesolithic and Neolithic periods in the Dnieper Basin region of Ukraine. We assess the evidence for migration from the perspective of individual life histories using a combination of palaeoanthropology/pathology, radiocarbon dating, stable isotopic studies of diet, and mtDNA. 


Link

Ancient mtDNA from Neolithic Ukraine

From the paper:

During the Neolithic, the North Pontic Region (NPR) was home to major prehistoric cultural conglomerates, among them—the Dnieper-Donets cultural complex (DD). The DD culture has been studied in approximately 200 sites in Ukraine and Byelorussia, including settlements and large collective cemeteries of the Mariupol-type (M-t).1 The main feature of M-t cemeteries is inhumation burial in the supine position. This burial rite differs from most local Mesolithic burial traditions and is characteristic of the ‘Euro-Siberian’ zone of extended burials, which are found from Lake Baikal and the forest and forest-steppe zones of the East European Plain to the northern part of Central Europe and Scandinavia.2,3

...

The overall conclusion about the genetic composition of the builders of M-t cemeteries is that they were a genetically heterogeneous population that contained admixtures of mtDNA lineages from neighboring geographic regions as well as from the territories stretching far east. The noticeable anthropological influences of DD on local post-Neolithic populations suggest the possibility of genetic continuity in populations succeeding the people who built the M-t cemeteries. The genetic relationship between Neolithic DD populations and Copper-Bronze Age inhabitants of the North Pontic steppe is the subject of an ongoing investigation.

Journal of Human Genetics advance online publication 7 June 2012; doi: 10.1038/jhg.2012.69

Mitochondrial haplogroup C in ancient mitochondrial DNA from Ukraine extends the presence of East Eurasian genetic lineages in Neolithic Central and Eastern Europe

Alexey G Nikitin et al.

Recent studies of ancient mitochondrial DNA (mtDNA) lineages have revealed the presence of East Eurasian mtDNA haplogroups in the Central European Neolithic. Here we report the finding of East Eurasian lineages in ancient mtDNA from two Neolithic cemeteries of the North Pontic Region (NPR) in Ukraine. In our study, comprehensive haplotyping information was obtained for 7 out of 18 specimens. Although the majority of identified mtDNA haplogroups belonged to the traditional West Eurasian lineages of H and U, three specimens were determined to belong to the lineages of mtDNA haplogroup C. This find extends the presence of East Eurasian lineages in Neolithic Europe from the Carpathian Mountains to the northern shores of the Black Sea and provides the first genetic account of Neolithic mtDNA lineages from the NPR.

Link

Horse domestication mystery solved (?)

I will add the abstract of the paper later when it is "live" on the PNAS site. For the moment, a link to the press release:

New research indicates that domestic horses originated in the steppes of modern-day Ukraine, southwest Russia and west Kazakhstan, mixing with local wild stocks as they spread throughout Europe and Asia. The research was published today, 07 May, in the journal PNAS.

For several decades scientists puzzled over the origin of domesticated horses. Based on archaeological evidence, it had long been thought that horse domestication originated in the western part of the Eurasian Steppe (Ukraine, southwest Russia and west Kazakhstan); however, a single origin in a geographically restricted area appeared at odds with the large number of female lineages in the domestic horse gene pool, commonly thought to reflect multiple domestication "events" across a wide geographic area.

In order to solve the perplexing history of the domestic horse, scientists from the University of Cambridge used a genetic database of more than 300 horses sampled from across the Eurasian Steppe to run a number of different modelling scenarios.

Their research shows that the extinct wild ancestor of domestic horses, Equus ferus, expanded out of East Asia approximately 160,000 years ago. They were also able to demonstrate that Equus ferus was domesticated in the western Eurasian Steppe, and that herds were repeatedly restocked with wild horses as they spread across Eurasia.

ScienceNOW also covers the new research, and reports on a contrasting viewpoint:

Not all researchers are convinced, however. Archaeologist Marsha Levine of the University of Cambridge thinks using modern genetic samples to retrace horses' evolution is a dead end. "There's been mixing of cultures and mixing of horses in this region for many thousands of years," she says. "And so when you're looking at any modern horse, you just don't know where it's from."

Bringing together many kinds of evidence is what will ultimately answer the whens and wheres of horse domestication, Levine says. "What we need to be doing is using material from excavations, sequencing ancient genes, and combining that with what we know from archaeological evidence about how animals were used in the past."

I agree with the idea that ancient DNA will ultimately confirm/reject the model presented in the paper. Of course, it may be the case that the west Eurasian steppe was the place where horse domestication happened, but it is also the place where local horses may be descended from European, West Asian, and Central Asian breeds. I'll have to read the paper to see how the problem of possible admixture between western and eastern horse breeds on the steppe is accounted for in the paper.

PNAS doi: 10.1073/pnas.1111122109

Reconstructing the origin and spread of horse domestication in the Eurasian steppe

Vera Warmuth et al.

Despite decades of research across multiple disciplines, the early history of horse domestication remains poorly understood. On the basis of current evidence from archaeology, mitochondrial DNA, and Y-chromosomal sequencing, a number of different domestication scenarios have been proposed, ranging from the spread of domestic horses out of a restricted primary area of domestication to the domestication of numerous distinct wild horse populations. In this paper, we reconstruct both the population genetic structure of the extinct wild progenitor of domestic horses, Equus ferus, and the origin and spread of horse domestication in the Eurasian steppes by fitting a spatially explicit stepping-stone model to genotype data from >300 horses sampled across northern Eurasia. We find strong evidence for an expansion of E. ferus out of eastern Eurasia about 160 kya, likely reflecting the colonization of Eurasia by this species. Our best-fitting scenario further suggests that horse domestication originated in the western part of the Eurasian steppe and that domestic herds were repeatedly restocked with local wild horses as they spread out of this area. By showing that horse domestication was initiated in the western Eurasian steppe and that the spread of domestic herds across Eurasia involved extensive introgression from the wild, the scenario of horse domestication proposed here unites evidence from archaeology, mitochondrial DNA, and Y-chromosomal DNA.

Link

East Eurasian mtDNA in Ukrainian Neolithic and Bronze Age

Jean M links to a Master's thesis, which discovered the following:

While most of our samples possessed mtDNA haplotypes that can be linked to European and Near Eastern populations, three Neolithic and all three Bronze Age individuals belonged to mtDNA haplogroup C, which is common in East Eurasian, particularly South Siberian, populations but exceedingly rare in Europe. Phylogeographic network analysis revealed that our samples are located at or near the ancestral node for haplogroup C and that derived lineages branching from the Neolithic samples were present in Bronze Age Kurgans. In light of the numerous examples of mtDNA admixture that can be found in both Europe and Siberia, it appears that the NPR and South Siberia are located at opposite ends of a genetic continuum established at some point prior to the Neolithic. This migration corridor may have been established during the Last Glacial Maximum due to extensive glaciation in northern Eurasia and a consequent aridization of western Asia. This implies the demographic history for the European gene pool is more complex than previously considered and also has significant implications regarding the origin of Kurgan populations.

Unfortunately the thesis is under embargo until next year. We'll have to wait and see whether this research stands up to closer scrutiny by ancient DNA experts. The detection of a haplogroup that is quite rare in Europe today makes it difficult to envision a scenario in which contamination may have produced a spurious result, however.

The Dnieper-Donets population was described as robust Europeoid by Soviet anthropologists as was the Andronovo/Afanasevo tradition further east. It is interesting that Mongoloid admixture has been detected in both groups. I would not have guessed that this would have extended that far west and south. It seems that M. G. Levin may have been right when he stated that the Mongoloid elements penetrated far into eastern Europe.

It will certainly be interesting to discover how the Mongoloid component in the gene pool of the Northern Pontic steppe became diluted until the present. James Mallory argued at great length in a recent talk about the impossibility of Balkan influences on the steppe. I would bet that there were influences from the both the Balkans and the Caucasus, as well as the Transcaspian arrival of Iranic speakers in the 1st millennium BC, ultimately from their Bactria-Margiana source.

UPDATE:

On the Origin of Mongoloid Component in the Mitochondrial Gene Pool of Slavs, B. A. Malyarchuk, M. A. Perkova, and M. V. Derenko (pdf)

Concerning the population of Eastern Europe, it should be noted that the forest zone of Eastern Europe was the area of intense population admixture [35]. It seems likely, that formation of the complex of Mongoloid traits happened not later than in Upper Paleolithic. For this reason, it is suggested that East Siberian populations could have much time for migration to Eastern Europe [35]. The number of such migrations still remains unclear, since in the northwest of Eastern Europe Mongoloid component is detected 10000–8000 years ago; in Dnepr–Donetsk tribes, 7000–6000 years ago, and on the territory of Ivanovo oblast (Sakhtysh), 6000–5000 years ago [35, 36].

It seems, once again, that physical anthropology and genetics are consistent with each other.

Early anatomically modern humans (32,000 years BP) from Buran-Kaya III (Ukraine)

PLoS ONE 6(6): e20834. doi:10.1371/journal.pone.0020834

The Oldest Anatomically Modern Humans from Far Southeast Europe: Direct Dating, Culture and Behavior

Sandrine Prat et al.

Abstract
Background
Anatomically Modern Humans (AMHs) are known to have spread across Europe during the period coinciding with the Middle to Upper Paleolithic transition. Whereas their dispersal into Western Europe is relatively well established, evidence of an early settlement of Eastern Europe by modern humans are comparatively scarce.

Methodology/Principal Finding
Based on a multidisciplinary approach for the study of human and faunal remains, we describe here the oldest AMH remains from the extreme southeast Europe, in conjunction with their associated cultural and paleoecological background. We applied taxonomy, paleoecology, and taphonomy combined with geomorphology, stratigraphy, archeology and radiocarbon dating. More than 160 human bone remains have been discovered. They originate from a well documented Upper Paleolithic archeological layer (Gravettian cultural tradition) from the site of Buran-Kaya III located in Crimea (Ukraine). The combination of non-metric dental traits and the morphology of the occipital bones allow us to attribute the human remains to Anatomically Modern Humans. A set of human and faunal remains from this layer has been radiocarbon dated by Accelerator Mass Spectrometry. The direct-dating results of human bone establish a secure presence of AMHs at 31,900+240/−220 BP in this region. They are the oldest direct evidence of the presence of AMHs in a well documented archeological context. Based on taphonomical observations (cut marks and distribution of skeletal elements), they represent the oldest Upper Paleolithic modern humans from Eastern Europe, showing post-mortem treatment of the dead as well.

Conclusion/Significance
These findings are essential for the debate on the spread of modern humans in Europe during the Upper Paleolithic, as well as their cultural behaviors.

Link

Dog domestication in the Aurignacian (c. 32kyBP)

From the paper:

Interestingly, when compared to extant wolf and dog sequences available from GenBank, all seven haplotypes found in the Pleistocene samples were found to be unique and not described to date. This result is remarkable when considering the large number of wolf (~160) and particularly dog sequences (> 1,000 from almost all breeds known today) available in Genbank.

This may be consistent with selection affecting mtDNA since the Paleolithic, with recent dogs and wolves being descended from a small subset of the Paleolithic mtDNA diversity. Also from the paper:

Compared to wolves, ancient dogs exhibit a shorter and broader snout (Lawrence, 1967; Olsen, 1985; Sablin and Khlopachev, 2002). All Palaeolithic dogs in our study conform to this pattern.

...

As demonstrated above, the Palaeolithic dogs in our data set are very uniform in their skull shape. Even the Goyet dog, with an age of c. 31,700 BP, is not intermediate in form between the fossil wolves and the prehistoric dogs, but conforms to the configuration of the other Palaeolithic dogs, which are approximately 18,000 years younger. The abrupt appearance of a dog, much older than the Eliseevich I dogs, the oldest recognized dogs so far, suggest that the domestication process must have been quite rapid (cf. Crockford, 2000a).

Was the dog the very first animal to be domesticated by man, truly his "oldest friend"? I would not be surprised if our relationship with dogs stretches even further to the past. Dogs are such useful helpers in a hunting culture, that their value must have been recognized from early on.

Journal of Archaeological Science doi:10.1016/j.jas.2008.09.033

Fossil dogs and wolves from Palaeolithic sites in Belgium, the Ukraine and Russia: osteometry, ancient DNA and stable isotopes

Mietje Germonpré et al.

Abstract

Using multivariate techniques, several skulls of fossil large canids from sites in Belgium, Ukraine and Russia were examined to look for possible evidence of the presence of Palaeolithic dogs. Reference groups constituted of prehistoric dogs, and recent wolves and dogs. The fossil large canid from Goyet (Belgium), dated at c. 31,700 BP is clearly different from the recent wolves, resembling most closely the prehistoric dogs. Thus it is identified as a Palaeolithic dog, suggesting that dog domestication had already started during the Aurignacian. The Epigravettian Mezin 5490 (Russia) and Mezhirich (Ukraine) skulls are also identified as being Palaeolithic dogs. Select Belgian specimens were analysed for mtDNA and stable isotopes. All fossil samples yielded unique DNA sequences, indicating that the ancient Belgian large canids carried a substantial amount of genetic diversity. Furthermore, there is little evidence for phylogeographic structure in the Pleistocene large canids, as they do not form a homogenous genetic group. Although considerable variation occurs in the fossil canid isotope signatures between sites, the Belgian fossil large canids preyed in general on horse and large bovids.

Link

mtDNA phylogeny in Eastern and Western Slavs

Molecular Biology and Evolution, doi:10.1093/molbev/msn114

Mitochondrial DNA phylogeny in Eastern and Western Slavs

B. Malyarchuk et al.

To resolve the phylogeny of certain mitochondrial DNA (mtDNA) haplogroups in Eastern Europe and estimate their evolutionary age, a total of 73 samples representing mitochondrial haplogroups U4, HV*, and R1 were selected for complete mitochondrial genome sequencing from a collection of about 2000 control-region sequences sampled in Eastern (Russians, Belorussians, Ukrainians) and Western (Poles, Czechs and Slovaks) Slavs. On the basis of whole-genome resolution, we fully characterized a number of haplogroups (HV3, HV4, U4a1, U4a2, U4a3, U4b, U4c, U4d, and R1a) that were previously described only partially. Our findings demonstrate that haplogroups HV3, HV4, and U4a1 could be traced back to the pre-Neolithic times ( 12,000-19,000 YBP) in Eastern Europe. In addition, an ancient connection between the Caucasus/Europe and India has been revealed by analysis of haplogroup R1 diversity, with a split between the Indian and Caucasus/European R1a lineages occurring about 16,500 years ago. Meanwhile, some mtDNA subgroups detected in Slavs (such as U4a2a, U4a2*, HV3a, R1a1) are definitely younger being dated between 6,400-8,200 YBP. However, robust age estimations appear to be problematic due to the high ratios of non-synonymous to synonymous substitutions found in young mtDNA subclusters.

Link

ISABS 2007 abstracts

Quite a few interesting abstracts from last year's ISABS Conference (book of abstracts).

Y-CHROMOSOME DIVERSITY IN SOUTHERN URALS: A GEOGRAPHIC BORDER BETWEEN EUROPE AND ASIA

Khusnutdinova E. et al.

Turkic-speaking Bashkirs are dispersed throughout the southern Ural region. They are considered by historians as descendants of Turkic- speaking nomadic communities that arrived in southern Urals at Early Medieval ages and assimilated indigenous population. We performed phylogenetic analysis of Y-chromosome lineages in a sample of 587 Bashkirs drawn from different parts of the southern Ural region and neighbouring areas: Abzelilovskiy (N=152), Sterlibashevskiy (N=54), Baimakskiy (N=95), and Burzyanskiy (N=82) districts of Bashkortostan republic, Orenburg (N=79), Perm (N=72), Samara and Saratov (N=51) Oblasts of Russia. Obtained samples of Y-chromosomes were analyzed using 24 biallelic markers of the Y chromosome non-recombining region. A total of 17 haplogroups were identified among which R1b3-M269, R1a1- SRY 1532, and N3-M46 lineages were predominant. Since N3-M46 lineage is prevalent among neighbouring Finno- Ugric populations and is rarely found in Central Asia, where numerous Turkicspeaking confederations dominated over a long period ancestors of Finno-Ugric groups are probable source population that contributed N3 lineage into Bashkirs. Y- Chromosome lineages specific to Central and East Asian populations (C3c- M48, O-M175) were absent or found with very low overall frequency (less than 10%). The only exception is R1b2 lineage which was found with very high frequency among Transural Bashkirs. Overall prevalence of typical West Eurasian (R1a-SRY 1532 and R1b3- M269) and North Eurasian (N3) lineages imply that Turkic-speaking newcomers were either admixed or genetic input associated with their arrival was limited.

INTRA-ETHNIC VARIATION OF THE Y CHROMOSOME IN EUROPEAN COUNTRIES: A COMPARATIVE STUDY

Balanovsky O et al.

To reveal degree of the regional Y chromosomal variation in Europe we compared our data on Russians (14 regional populations), Ukrainians (4 populations) and Belorussians (2 populations, and 2 populations from Behar et al., 2003) with the published regional data on other European countries. For reliable calculations neighbour populations were pooled to reach sample sizes above 70. To measure the intra-ethnic variation we calculated (i) the average genetic distance between regional populations of every group and (ii) Gst (Fst) variation. Gst value was considered as preferable measure, as it was found to be less sensitive to level of phylogenetic resolution in the data. Croatians, Finns, Russians and Italians were proved to be the most diverse (genetically subdivided) groups; Swedes and Germans demonstrated moderate variation; Greeks, Turks, Poles, Belorussians and Ukrainians were more genetically homogenous, showing lower geographic variation of the paternal lineages inside their countries. However, even lower variation of the Y chromosome is significantly higher as compared with analogous values calculated from mitochondrial DNA and autosomal data. This finding stresses that forensic studies may demand not only country-specific, but provincespecific databases (at least for listed above highly genetically subdivided countries), since haplogroup profiles differ significantly from one province to another, inside the same country. Despite the high intra-ethnic variation (Gst=0.03 on average), the inter-ethnic differences were five times higher (Gst=0.15), revealing dominance of inter-ethnic variation in structuring the paternal gene pool in Europe.

PHYLOGEOGRAPHY OF Y-CHROMOSOMAL LINEAGES IN NORTH EURASIA

Stepanov V et al.

Aim of the study was to reconstruct the evolution of paternal lineages in populations of Siberia, Central Asia and Eastern Europe. Forty population samples from 22 ethnic groups were studied. Totally 1600 Y chromosomes were genotyped for 40 biallelic markers according to Y chromosome consortium (YCC) classification. The microsatellite haplotypes within HG were constructed using 7 STR loci. Thirty one haplogroups were observed, but frequencies of only 7 of them (N3a, R1a1, Q*, C3xC3c, N2, C3c, O3) were higher than 3 percent. In sum these 7 haplogroups comprise 86% of Y-chromosomal gene pool in North Eurasia. The proportion of inter- population differences in the total genetic variability of region's population according to the analysis of molecular variance is 19%. Analysis of genetic relationships between populations reveals three main clusters of populations in space of two first PCs reflecting the differential presence of ancient West-Eurasian Caucasoid, Proto-Uralic and Paleoasiatic components. Based on analysis of microsatellite haplotypes within main Y- chromosomal haplogroups, molecular diversity within monophyletic lineages were calculated and phylogenetic trees for most common haplogroups were reconstructed. Western-Eurasian lineages (R1a1, R1b) are characterized by the maximal diversity in Eastern European populations. Eastern-Eurasian lineages have the high level of diversity in populations of Eastern Siberia and North-East Asia. The age of genetic diversity generation and time of population differentiation (Td) shows that most lineages which are common in North Eurasian populations dated back to Upper Paleolithic period before the last glacial maximum.

THE MITOCHONDRIAL DNA POLYMORPHISM IN UKRAINIAN POPULATION

Grechanina EY et al.

Study of mtDNA polymorphism for estimation genetic diversity of Ukrainian population. There are 239 samples of Ukrainians from different regions of Ukraine. There are sequention of hypervariable segment HVS I in combination with RFLPanalysis of coding sites of mtDNA and phylogeographical analysis. This research was in Estonian Biocenter. Length of sequencing fragment was 377 bp 102 positions from 377 were polymorphic. From these 91 nucleotide substitutions are transitions, with prevalence pyrimidine under purine (69:22). Transversions were in 11 sites. Were determined 157 haplotypes. The most common haplotype (10.0%) corresponds to CRS. Indexes of genetic diversity for Ukrainian population are H=0.986 and Di=5.19. Screening of polymorphic sites established following haplogroups of mtDNA, which have all-European spreading: H-33.5%, V-5.4%, HV-3.7%, J- 11.7%, T-6.7%, U-20.9% (U2, U3, U4, U5, U7, U8), K-2.9%, I-2.1%, W- 2.1%, X-2.5%. Subhaplogroup U3 (2.5%) may testify the presence Iranian component. Subhaplogroup U4 was detected with frequency 3.7%. Subhaplogroup U5 has maximal frequency in Scandinavian people also was detected in Ukrainian population with high frequency 10.8%. Haplogroup V, as marker of Finnish-Hungarian people, has high frequency in Ukrainian population. There were found Asian lines (A, B, C, D, Z) with frequency 2.0%. Data indicate on complicated ethnical formation of modern Ukrainian population, where assimilation processes and inter-ethnic interactions played considerable role. They will be important additions in context about polymorphism of European populations mtDNA.

A GLIMPSE AT THE FRENCH mtDNA GENETIC POOL

Pennarun E et al.

In the coverage of the genetic pool of Europe, some major cavities were left, hence to fill one of them, namely the French mtDNA pool we collected 868 samples from twelve different locations of France. Those samples were sequenced for the hypervariable segment I (HVS-I) and then typed for SNPs in the coding region, either by RFLP or 5' nuclease allelic discrimination, in order to assign them to the right haplogroup. Then the mtDNA gene pools of French Basques and Bretons were compared in terms of frequency and composition with relevant neighbouring populations. The French Basques’ mtDNA pool shares some common cardinal features with that of the Spanish Basques, represented in the high prevalence of haplogroup H. However, the French Basques do show a number of distinct features, most notably expressed in the much higher frequency of haplogroups linked with the Neolithic diffusion in Europe. In Brittany, Finistère shows closer affinities with Britain and Scandinavia than the two other departments of Brittany. The mtDNA haplogroup composition of the French does not differ significantly from the surrounding European genetic landscape. In a finer grain, microgeographical differentiation can be revealed as shown for the French Basque country and for Brittany.

CULTURAL AND GENETIC DIVERSITY IN CENTRAL ANATOLIA: A LOCAL PERSPECTIVE

Gokcumen O et al.

Anatolia has been an important crossroads for numerous populations since the Neolithic. Among these, the Hattis, Urartians, Lydians, Phyrigians and Ottomans emerged in Anatolia proper. In addition, although non-Anatolian in origin, the Hittites, Greeks, Romans and Byzantines influenced and were influenced by local Anatolian cultures. These dynamics, as well as more recent events, such as the Turco-Ottoman War of late 19th century, the reconfiguration of the populations of the Ottoman Empire and the Greek- Turkish population exchange of 1920s, have made Anatolia a culturally and genetically complex region. Despite this complex history, Anatolia has been often been viewed as a uniform cultural landscape. Working from this perspective, previous studies of genetic variation in Anatolia analyzed samples from Turkish populations obtained from mostly urban hospitals or universities. Such studies not only overlooked the regional variation within Anatolia, but also treated contemporary Turkish populations as the direct representatives of Medieval and Neolithic Anatolian populations. To address these problems, we collected ~125 samples and extensive ethnographic data from a location in Central Anatolia southeast of Ankara. The samples were analyzed for mtDNA and NRY diversity, and the resulting data compared with those from previous genetic analyses of Turkish populations. We observed that several ethnic and cultural groups having different population histories co-existed in this location. This pattern likely represents the typical picture of Anatolian variation. We are using our genetic data to help us clarify these distinct population histories in greater detail.

Russian Y chromosomes

An important new paper on Y chromosome variation in Russians will soon appear in AJHG. I have not seen the full article posted on the website yet, so more to follow.

UPDATE (Jan 10):

While previous work on the Y chromosomes of Russians had established the main conclusions (dominance of Y-haplogroup R1a, and a Finno-Ugrian N3 substratum), this paper adds to our understanding by examinining several ethnic Russian populations and placing their variation within the larger Eurasian context.

An interesting multi-dimensional scaling plot from the paper. For each ethnic group, the large disk indicates the entire group, while the smaller figures, geographical subpopulations. This is an interesting way to present the information, and shows clearly (a) the tight clustering of Slavic populations in a large area from Poland to Russia and the Ukraine, and also the evidence of the Russification of indigenous Finno-Ugrians (populations 1-4: Mezen, Pinega, Krasnoborsk, Vologda).



Also of interest for students of Slavic origins, another recent article about which I had blogged here. Note also the distance between all Greek subpopulations, including Macedonian Greeks from the Slavic cluster which should be read as further evidence contra the Fallmerayer thesis.

The Greek, Turkish, and Italian populations are well separated from the northern and eastern European populations on the left side of the figure; Germans are intermediate between southern Europeans and Swedes who tend to the Finns; like the northern Russians, Swedes also have their own Finnish influence. Evident, also, is the differentiation between Slavs and Germans, which had been noted before.

Also of interest from the paper is the comparison of inter-ethnic variation within European ethnic groups (also evident in the Figure):

Table 3 summarizes data on Y chromosomal intraethnic variation among Russians and compares them with other ethnicities of Europe. The highest variation among subpopulations is found for Finns, Croatians, Russians, and Italians (GST value between 0.04 and 0.08); Swedes and Germans demonstrate moderate variation; other ethnic groups (Greeks, Turks, Poles, Belorussians, and Ukrainians) exhibit similar and lower level of regional variation (GST value approximately 0.01).

Am J Hum Genet. 2008 Jan;82(1):236-50.

Two sources of the Russian patrilineal heritage in their eurasian context.

Balanovsky O, Rootsi S, Pshenichnov A, Kivisild T, Churnosov M, Evseeva I, Pocheshkhova E, Boldyreva M, Yankovsky N, Balanovska E, Villems R.

Progress in the mapping of population genetic substructure provides a core source of data for the reconstruction of the demographic history of our species and for the discovery of common signals relevant to disease research: These two aspects of enquiry overlap in their empirical data content and are especially informative at continental and subcontinental levels. In the present study of the variation of the Y chromosome pool of ethnic Russians, we show that the patrilineages within the pre-Ivan the Terrible historic borders of Russia have two main distinct sources. One of these antedates the linguistic split between West and East Slavonic-speaking people and is common for the two groups; the other is genetically highlighted by the pre-eminence of haplogroup (hg) N3 and is most parsimoniously explained by extensive assimilation of (or language change in) northeastern indigenous Finno-Ugric tribes. Although hg N3 is common for both East European and Siberian Y chromosomes, other typically Siberian or Mongolian hgs (Q and C) have negligible influence within the studied Russian Y chromosome pool. The distribution of all frequent Y chromosome haplogroups (which account for 95% of the Y chromosomal spectrum in Russians) follows a similar north-south clinal pattern among autosomal markers, apparent from synthetic maps. Multidimensional scaling (MDS) plots comparing intra ethnic and interethnic variation of Y chromosome in Europe show that although well detectable, intraethnic variation signals do not cross interethnic borders, except between Poles, Ukrainians, and central-southern Russians, thereby revealing their overwhelmingly shared patrilineal ancestry.

Link

New YHRD release

An August 10 release of the YHRD - Y Chromosome Haplotype Reference Database.

Twenty populations were added or updated today: two Amerindian tribal populations from the Formosa province in Argentina (Pilaga, Toba), one from Venezuela (Caracas), two from provinces in Colombia (Boyaca, Cundinamarca), three from Siberian nomad populations (Western and Central Evens, Iengra Evenks), one from Belarus (Pinsk), three from Ukraine (Kiev, Lviv, Lugansk), three populations from Capetown in South Africa, three from Ravenna, Rimini and Val Marecchia in Italy, one from Hungary, one from Peru and one from Oran in Algeria.

R1a1 frequencies in Southeastern Europe

I have compiled frequency data for haplogroup R1a1 in southeastern Europe and Ukraine, the putative source of the R1a1 expansion in Europe. Let me know if there are additional studies to be included here. Also, R1a frequencies were used from some older studies (e.g., Rosser), but this shouldn't be a problem since R1a and R1a1 are almost always equivalent. The sources are also listed, and in most cases you should be able to track down the relevant papers on PubMed using the lead researcher's last name. Post any corrections/additional info in the comments.

Ukrainians 45% Semino,Rosser,Kharkov,Varzari,Passarino
Slovenes 37% Rosser
Moldavians 29% Varzari
Croats 26% Marjanovic,Barac,Pericic
Romanians 20% Bosch,Rosser,Stefan,Varzari
Bosnians 19% Marjanovic,Pericic
Serbs 15% Marjanovic,Rosser,Pericic
Slav Macedonians 15% Bosch,Pericic
Bulgarians 14% Malaspina,Rosser
Herzegovinians 12% Pericic
Greeks 12% Firasat,Bosch,Martinez,Semino,Helgason,DiGiacomo,Rosser
Aromuns 10% Bosch
Albanians 7% Bosch,Pericic
Cypriots 6% Capelli,Rosser

Origin of Slavs in the Ukraine

This is a significant new paper covering Slavic genetic origins. I will have much more to say on it shortly.

UPDATE (March 17):

From the paper:

The most outstanding populations were those of Poland and northern Belarus, while populations of central Belarus, southern Belarus and Slovakia were genetically indistinguishable.

...

The most apparent genetic distance was found between the northern (Eastern and Western) and Southern Slavs, who at the end of the 9th century were separated by the invasion of Finno-
Ugric Hungarians [...] The observed northern Slavic Y-STR genetic homogeneity extends from Slovakia and Ukraine to parts of Russia and Belarus, but also involves Southern-Slavic populations of Slovenia and western Croatia, and is the most probably due to a homogeneous genetic substrate inherited from the ancestral Slavic population. However, due to the Y-STR proximity of linguistically and geographically Southern-Slavic Slovenes and western Croats to the northern Slavic branch, the observed genetic differentiation cannot simply be explained by the separation of both Slavic-speaking groups by the non-Slavic Romanians, Hungarians, and Germanspeaking Austrians [...] Thus, the contribution of the Y chromosomes of peoples who settled in the region before the Slavic expansion to the genetic heritage of Southern Slavs is the most likely explanation for this phenomenon. On the other hand, our results indicate no significant genetic traces of pre-sixth-century inhabitants of present-day Slovenia in the Slovene Y chromosome genetic pool.

...

AMOVA revealed significant differences in Y-STR distribution between Slavic and Baltic populations (P < 0.005 for all pairwise comparisons), which is
likely to result from the previously observed different Ychromosomal
haplogroup distribution (Rosser et al. 2000). The Baltic populations are characterised by the high incidence of the Y-chromosomal haplogroup N3 (47% among Lithuanians, 32% among Latvians) (Rosser et al. 2000; Zerjal et al. 2001). Its distribution pattern in Slavic populations indicates that Proto-Slavs did not carry this lineage at a substantial frequency, since it is relatively rare among Slavs and at high frequency was observed only in some Russian subpopulations (Malyarchuk et al. 2004).

...

we estimated haplogroup N3 frequencies in the three Belarusian subpopulations. The results suggest that the uniqueness of the northern Belarusian population is most likely due to the high incidence of Y chromosomes from the haplogroup N3 (18.9%), which has half the frequency in central and southern Belarus (8.8 and 8.1%, respectively). Therefore, although the early ethnogenesis of the Belarusian nation has customarily been linked to the gradual Slavicisation of the homogeneous Baltic substrate on the territory of present-day Belarus (Sedov 1970), only northern Belarus seems to be a transient area for the Baltic and Slavic settlement.

...

Because Slavs unequivocally enter the records of history as late as the sixth century AD, when their expansion in Eastern Europe was already advanced, different theories concerning the Slavs’ geographic origin based on archaeological, anthropological and/or linguistic data have been formulated. Two such theories have gained the largest support among the scientists (Schenker 1995), one placing the cradle of Slavs in the watershed of the Vistula and Oder rivers (present-day Poland), and the other locating it in the watershed of the middle Dnieper (present-day Ukraine). Our results indicate that using the population-of-origin approach based on the AMOVA, as many as nine (P > 0.05) or ten (P > 0.01) populations can be traced back to the lands of present-day Ukraine, including Eastern-Slavic Russians and Belarusians, Western-Slavic Poles and Slovaks, and Southern-Slavic Slovenes and Croats.

...

Results of the interpopulation Y-STR haplotype analysis exclude a significant contribution of ancient tribes inhabiting present-day Poland to the gene pool of Eastern and Southern Slavs, and suggest that the Slavic expansion started from present-day Ukraine, thus supporting the hypothesis that places the earliest known homeland of Slavs in the basin of the middle Dnieper.

UPDATE 2

The paper confirms some points that were already known by previous work, namely the Y chromosomal homogeneity of Slavs. Some Slavic groups such as Czechs are missing from the analysis. The homogeneity is less visible in groups that have absorbed significant substrata, i.e., in some Balkan populations and in populations that have absorbed Finno-Ugrian elements characterized by haplogroup N3.

The interpretation of the homogeneity would benefit greatly by an estimation of time depth. There are not dates in the paper, so it is not clear (although possible) that the homogeneity is due to the medieval Slavic dispersal.

The use of Y-STRs is useful for estimating historical relationships, but a limited number of these is used for most populations except for the core group where 18 STRs were used. The use of binary haplogroup data - used in the paper only for the presence of haplogroup N3 - would help determine the elements present in the different populations. The chosen approach gives no insight about the genetic identity of the population of Proto-Slavs.

The paper does make a good case for Ukraine being the Proto-Slavic homeland, since Poland emerges clearly as a destination of a subset of Y chromosome diversity rather than as a unifying source of diversity observed in all major Slavic sub-groups. But, the date of the Out-of-Ukraine expansion, likely to be reflected in specific haplogroup R1a1 subclades is not established and must await further research.


Journal of Human Genetics (online early)

Y-STR variation among Slavs: evidence for the Slavic homeland in the middle Dnieper basin

Krzysztof Rębała, Alexei I. Mikulich, Iosif S. Tsybovsky, Daniela Siváková, Zuzana Džupinková, Aneta Szczerkowska-Dobosz and Zofia Szczerkowska

Abstract A set of 18 Y-chromosomal microsatellite loci was analysed in 568 males from Poland, Slovakia and three regions of Belarus. The results were compared to data available for 2,937 Y chromosome samples from 20 other Slavic populations. Lack of relationship between linguistic, geographic and historical relations between Slavic populations and Y-short tandem repeat (STR) haplotype distribution was observed. Two genetically distant groups of Slavic populations were revealed: one encompassing all Western-Slavic, Eastern-Slavic, and two Southern-Slavic populations, and one encompassing all remaining Southern Slavs. An analysis of molecular variance (AMOVA) based on Y-chromosomal STRs showed that the variation observed between the two population groups was 4.3%, and was higher than the level of genetic variance among populations within the groups (1.2%). Homogeneity of northern Slavic paternal lineages in Europe was shown to stretch from the Alps to the upper Volga and involve ethnicities speaking completely different branches of Slavic languages. The central position of the population of Ukraine in the network of insignificant AMOVA comparisons, and the lack of traces of significant contribution of ancient tribes inhabiting present-day Poland to the gene pool of Eastern and Southern Slavs, support hypothesis placing the earliest known homeland of Slavs in the middle Dnieper basin.

Link

Y chromosomes of Kalmyks

Forensic Sci Int. 2007 Feb 19; [Epub ahead of print]

Y-chromosomal STR haplotypes in Kalmyk population samples.

Roewer L, Kruger C, Willuweit S, Nagy M, Rodig H, Kokshunova L, Rothamel T, Kravchenko S, Jobling MA, Stoneking M, Nasidze I.

Seventeen Y-chromosomal short tandem repeats (STRs), DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, GATA-H4, DYS448, DYS456, DYS458, DYS635 were typed in DNA samples from the Kalmyk population (n=99). The population is characterized by a high proportion of duplicated DYS19 alleles and deletions of the locus DYS448 on the background of the Central Asian haplogroup C*. AMOVA analysis reveals a close vicinity to Mongolian and Kazakh populations and large genetic distance to geographical neighbours from Russia, Ukraine and the Caucasus.

Link

Horse domestication news from Kazakhstan

See also Botai and Horse Domestication.

New evidence of early horse domestication

Soil from a Copper Age site in northern Kazakhstan has yielded new evidence for domesticated horses up to 5,600 years ago. The discovery, consisting of phosphorus-enriched soils inside what appear to be the remains of horse corrals beside pit houses, matches what would be expected from Earth once enriched by horse manure. The Krasnyi Yar site was inhabited by people of the Botai culture of the Eurasian Steppe, who relied heavily on horses for food, tools, and transport.

"There's very little direct evidence of horse domestication," says Sandra Olsen, an archaeologist and horse domestication researcher at the Carnegie Museum of Natural History in Pittsburgh, PA. That's because 5,600 years ago there were no saddles or metal bits to leave behind. Equipment like bridles, leads, and hobbles would have been made from thongs of horse hide, and would have rotted away long ago. Likewise horses themselves have not changed much physically as a result of domestication, unlike dogs or cattle. So ancient horse bones don't easily reveal the secrets of domestication.

With research funding from the National Science Foundation, Olsen's team took a different tack. They looked for circumstantial evidence that people were keeping horses. One approach was to survey the Krasnyi Yar site with instruments to map out subtle electrical and magnetic irregularities in the soils. With this they were able to identify the locations of 54 pit houses and dozens of post moulds where vertical posts once stood. Some of the post moulds were arranged circularly, as would be most practical for a corral.

Next, geologist Michael Rosenmeier from the University of Pittsburgh collected soil samples from inside the fenced area and outside the settlement. The samples were analyzed for nitrogen, phosphorus, potassium, and sodium concentrations by Rosemary Capo, University of Pittsburgh geochemist, and her students. Modern horse manure is rich in phosphorous, potassium, and especially nitrogen, compared to undisturbed soils. But because nitrogen is mobile in soils, it can be lost to groundwater or transferred to the atmosphere by organic and inorganic processes. Phosphorus, on the other hand, can be locked into place by calcium and iron and is more likely to be preserved in the soils for millennia.

As it turned out, the soil from inside the alleged corral had up to ten times the phosphorus concentration as the soils from outside the settlement. Lots of phosphorus can also indicate a hearth, said Capo, but that phosphorus is usually accompanied by a lot of potassium, which is not the case in the corral at Krasnyi Yar.

The corral soils also had low nitrogen concentrations, says Capo, reducing the likelihood that the phosphorus came from more recent manure. "That's good, actually," she said of the recently completed nitrogen analyses. "It suggests we've got old stuff."

Even more compelling will be if we find long-lived molecules of fat, or lipids, directly attributed to horse manure in the soils, says Olsen.

The latest results from Krasnyi Yar site will be on display Monday morning, 23 October, at the Annual Meeting of the Geological Society of America in Philadelphia.

Early as the Botai were, they were probably not the first to domesticate horses, says Olsen. "The very first horse domestication was probably a bit earlier in Ukraine or western Russia," she said. "Then some horse-herders migrated east to Kazakhstan."

Horses allowed the Botai to build large perennial villages with, in one case, hundreds of homes. They did so without the benefit of agriculture, Olsen explained, as theirs was a horse economy.

The Botai were able to stay put year-round because horses are very well adapted to cold winters, she said. "Horses can survive ice storms and don't need heated barns or winter fodder," Olsen said. They are, in fact, some of the last remaining large, Ice Age, Pleistocene mammals living in one of the last places on Earth where Pleistocene vegetation survives.

Because they were domesticated, the horses supplied meat year-round and vitamin-rich mare's milk from spring through fall. "No one in their right mind would try to milk a wild mare," said Olsen.

There is also evidence that the Botai were carrying a lot of heavy material, like rocks and large skulls, over long distances. That is a lot more practical and explicable if they used pack horses.

Later people of the same region adopted shepherding and cattle raising, said Olsen. That created a more nomadic culture, since sheep and cattle are not well suited for sub-zero climates and therefore needed to be taken south in winter. The tradeoff, she says, was that cows and sheep give far fattier milk year round, which can be made into yogurt and cheese. Sheep also provide wool.

Kazakh people today still eat horsemeat. They were forced to abandon their nomadic lifestyle during the Soviet era and have returned to small village pastoralism, Olsen says.

Population age structure and prosperity

Steve Sailer points me to an article by Malcolm Gladwell in the New Yorker. Gladwell makes the excellent point that the dependency ratio explains a country's prosperity:

This relation between the number of people who aren’t of working age and the number of people who are is captured in the dependency ratio. In Ireland during the sixties, when contraception was illegal, there were ten people who were too old or too young to work for every fourteen people in a position to earn a paycheck. That meant that the country was spending a large percentage of its resources on caring for the young and the old. Last year, Ireland’s dependency ratio hit an all-time low: for every ten dependents, it had twenty-two people of working age. That change coincides precisely with the country’s extraordinary economic surge.

...

Economists have long paid attention to population growth, making the argument that the number of people in a country is either a good thing (spurring innovation) or a bad thing (depleting scarce resources). But an analysis of dependency ratios tells us that what’s critical is not just the growth of a population but its structure. “The introduction of demographics has reduced the need for the argument that there was something exceptional about East Asia or idiosyncratic to Africa,” Bloom and Canning write, in their study of the Irish economic miracle. “Once age-structure dynamics are introduced into an economic growth model, these regions are much closer to obeying common principles of economic growth.”

I was extremely pleased to see this point being argued. I had made a similar observation back in 2003 in Fishing in the Pond of Correlation.

Let's take factor #1: Demographic Structure. I used % of population under age 15 as a proxy for this factor. The intuition goes that since children don't have the capacity (muscle or intellectual) to produce as much as adults, a nation with a large number of children will have a lower per capita income.

Indeed, there is a -0.71 correlation between % of population under 15 and per capita PPP, accounting for 50% of the variance of the dependent variable.

Roughly half the population in the world is women. Women get pregnant and while pregnant or rearing young children can't be as productive as men. So, we expect that nations where women have lots of children will have a lower per capita income, simply because half their population spends quite a lot of time being pregnant, breastfeeding or changing diapers. This is factor #2, which also relates to Demographic Structure.

Steve brings the example of Ukraine as an argument against the idea that population structure affects prosperity. I had actually observed this discrepancy in my original post:

Finally, I list the 10 countries whose per capita PPP is most overestimated by the model: Ukraine, Georgia, Bulgaria, Croatia, Cuba, Romania, Bosnia and Herzegovina, Moldova, Rep. of, Sri Lanka, Russian Federation

It is clear that adding "democracy" as a value, would help eliminate these residual errors. The 10 countries whose income is most underestimated are: Australia, Brunei Darussalam, Switzerland, Denmark, Canada, Equatorial Guinea, Norway, Iceland, Ireland, United States

It is notable that many of these countries have abundant natural resources (e.g., Iceland, Norway, Brunei), special financial status (Switzerland), or a large territory with respect to their population (Canada, Australia).

So, yes, demographic age structure is indeed a major determinant of economic prosperity as measured by per capita PPP, more so, once we control for factors such as recent history or natural resources.

Update (Aug 28): I have re-uploaded the data file in the old entry; it was missing from the old blog archive in 50webs. The link to the UNDP report from 2003 is also outdated. Here is a link to the latest 2006 report.

Here are the statistics on population under age 15. and PPP per capita from the UNDP website.

After repeating the calculations, I have found a correlation of -0.69 between population under age 15 and GDP per capita (US$ PPP). The scatterplot is even more informative.



It is clear that countries with large populations of dependents (on the right of the figure) all have small per capita income. Other factors may play a bigger role in countries with moderate and small populations of dependents.

The outliners in the graph are Equatorial Guinea and Luxembourg. If they are removed, the correlation becomes even more pronounced (-0.73)



I have often tried tried to show (e.g., for disease or hair dye sales) that we do not need to postulate elaborate explanations for phenomena when simpler ones suffice.

In this case, the lower per-capita GDP is a logical consequence of a high population of children: Per-capita GDP can be expressed as (Number of productive individuals)*(Average Individual Production)/(Total Population). Countries with a great number of children are expected to have a low (Number of productive individuals)/(Total Population Ratio), or conversely a high dependency ratio, and hence we expect them to have a low per capita GDP! This is a logical consequence and requires no assumptions about, say, the relative ability of different populations.

So, why should we bother with Lynn-ian speculations about intelligence and prosperity which depend on the unsubstantiated assumption of substantial genetic differences in cognitive ability among major races when a simpler model, which makes no such assumptions is able to capture the data as well, or even better?

Update II: A reader makes the interesting point that children, rather than dependents are the critical parameter. I have calculated the correlation between GDP per capita (US$ PPP) and population over 65 (without the outliers mentioned above) and obtained a value of +0.7, consistent with the idea that people in prosperous societies live longer.

Then I added up the fraction of people age less than 15 with that more than 65, to obtain a total fraction of the population that is expected to be "dependent" on the productive population between ages 15 and 65. The new correlation is -0.66. Thus, both the fraction of the productive population (aged 15 to 65) as well as the fraction of the adult population (aged 15+) both have roughly the same explanatory power.

Update III (Aug 29): Here is a comment I left in Jane Galt's topic on the subject:

Observable GDP/capita is not caused by any single factor. However, it is partially caused by demographic structure. By "caused" I mean that if we change the variable "dependency ratio" then we expect to immediately and predictably change the variable "GDP per capita".

Incidentally, as I have mentioned in my blog, the reduction in per capita income is not caused only directly from the smaller fraction of active individuals: an even smaller fraction of individuals can really be active, since a substantial part of them, especially young mothers, spend a lot of time in activities of little economic value.

For example, imagine a toy society in which active individuals produce 100 units. If one society has 50% dependents, and another 25% dependents, then we expect the per capita income of the first one to be 50 and of the second one to be 75. But, the first society also has lots of individuals who do not produce a lot because they take care of the dependent population. If, say, 2 dependents use up the resources of an active individual, then the "real" active fraction in the first population will be 25%, and 62.5% in the second one, and the corresponding per capita income will of course be 25 and 62.5. Thus, even though individuals produce exactly the same in both societies, demographic factors cause one to exhibit 2.5 more per capita GDP than the other.