BACKGROUND: The Slavs are a major ethnolinguistic group of Europe, yet the process that led to their formation remains disputed. As of the sixth century CE, people supposedly belonging to the Slavs populated the space between the Avar Khaganate in the Carpathian Basin, the Merovingian Frankish Empire to the West and the Balkan Peninsula to the South. Proposed theories to explain those events are, however, conceptually incompatible, as some invoke major population movements while others stress the continuity of local populations. RESULTS: We report high-quality genomic data of 18 individuals from two nearby burial sites in South Moravia that span from the fifth to the tenth century CE, during which the region became the core of the ninth century Slavic principality. In contrast to existing data, the individuals reported here can be directly connected to an Early-Slavic-associated culture and include the earliest known inhumation associated with any such culture. CONCLUSIONS: The data indicates a strong genetic shift incompatible with local continuity between the fifth and seventh century, supporting the notion that the Slavic expansion in South Moravia was driven by population movement.

• MeSH
• dějiny starověku MeSH
• genom lidský * MeSH
• lidé MeSH
• migrace lidstva MeSH
• populační genetika * MeSH
• starobylá DNA * analýza   MeSH
• Check Tag
• dějiny starověku MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• historické články MeSH
• Názvy látek
• starobylá DNA * MeSH

The second half of the first millennium CE in Central and Eastern Europe was accompanied by fundamental cultural and political transformations. This period of change is commonly associated with the appearance of the Slavs, which is supported by textual evidence1,2 and coincides with the emergence of similar archaeological horizons3-6. However, so far there has been no consensus on whether this archaeological horizon spread by migration, Slavicisation or a combination of both. Genetic data remain sparse, especially owing to the widespread practice of cremation in the early phase of the Slavic settlement. Here we present genome-wide data from 555 ancient individuals, including 359 samples from Slavic contexts from as early as the seventh century CE. Our data demonstrate large-scale population movement from Eastern Europe during the sixth to eighth centuries, replacing more than 80% of the local gene pool in Eastern Germany, Poland and Croatia. Yet, we also show substantial regional heterogeneity as well as a lack of sex-biased admixture, indicating varying degrees of cultural assimilation of the autochthonous populations. Comparing archaeological and genetic evidence, we find that the change in ancestry in Eastern Germany coincided with a change in social organization, characterized by an intensification of inter- and intra-site genetic relatedness and patrilocality. On the European scale, it appears plausible that the changes in material culture and language between the sixth and eighth centuries were connected to these large-scale population movements.

• Publikační typ
• časopisecké články MeSH

The North Eurasian forest and forest-steppe zones have sustained millennia of sociocultural connections among northern peoples, but much of their history is poorly understood. In particular, the genomic formation of populations that speak Uralic and Yeniseian languages today is unknown. Here, by generating genome-wide data for 180 ancient individuals spanning this region, we show that the Early-to-Mid-Holocene hunter-gatherers harboured a continuous gradient of ancestry from fully European-related in the Baltic, to fully East Asian-related in the Transbaikal. Contemporaneous groups in Northeast Siberia were off-gradient and descended from a population that was the primary source for Native Americans, which then mixed with populations of Inland East Asia and the Amur River Basin to produce two populations whose expansion coincided with the collapse of pre-Bronze Age population structure. Ancestry from the first population, Cis-Baikal Late Neolithic-Bronze Age (Cisbaikal_LNBA), is associated with Yeniseian-speaking groups and those that admixed with them, and ancestry from the second, Yakutia Late Neolithic-Bronze Age (Yakutia_LNBA), is associated with migrations of prehistoric Uralic speakers. We show that Yakutia_LNBA first dispersed westwards from the Lena River Basin around 4,000 years ago into the Altai-Sayan region and into West Siberian communities associated with Seima-Turbino metallurgy-a suite of advanced bronze casting techniques that expanded explosively from the Altai1. The 16 Seima-Turbino period individuals were diverse in their ancestry, also harbouring DNA from Indo-Iranian-associated pastoralists and from a range of hunter-gatherer groups. Thus, both cultural transmission and migration were key to the Seima-Turbino phenomenon, which was involved in the initial spread of early Uralic-speaking communities.

• MeSH
• Asijci * genetika   MeSH
• běloch MeSH
• běloši genetika   MeSH
• dějiny starověku MeSH
• etnicita * genetika   MeSH
• genom lidský genetika   MeSH
• haplotypy genetika   MeSH
• jazyk (prostředek komunikace) * dějiny   MeSH
• lidé MeSH
• lidský chromozom Y genetika   MeSH
• migrace lidstva dějiny   MeSH
• populační genetika MeSH
• starobylá DNA * analýza   MeSH
• Check Tag
• dějiny starověku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• historické články MeSH
• Geografické názvy
• Sibiř etnologie   MeSH
• Názvy látek
• starobylá DNA * MeSH

qpAdm is a statistical tool that is often used for testing large sets of alternative admixture models for a target population. Despite its popularity, qpAdm remains untested on 2D stepping stone landscapes and in situations with low prestudy odds (low ratio of true to false models). We tested high-throughput qpAdm protocols with typical properties such as number of source combinations per target, model complexity, model feasibility criteria, etc. Those protocols were applied to admixture graph-shaped and stepping stone simulated histories sampled randomly or systematically. We demonstrate that false discovery rates of high-throughput qpAdm protocols exceed 50% for many parameter combinations since: (1) prestudy odds are low and fall rapidly with increasing model complexity; (2) complex migration networks violate the assumptions of the method; hence, there is poor correlation between qpAdm P-values and model optimality, contributing to low but nonzero false-positive rate and low power; and (3) although admixture fraction estimates between 0 and 1 are largely restricted to symmetric configurations of sources around a target, a small fraction of asymmetric highly nonoptimal models have estimates in the same interval, contributing to the false-positive rate. We also reinterpret large sets of qpAdm models from 2 studies in terms of source-target distance and symmetry and suggest improvements to qpAdm protocols: (1) temporal stratification of targets and proxy sources in the case of admixture graph-shaped histories, (2) focused exploration of few models for increasing prestudy odds; and (3) dense landscape sampling for increasing power and stringent conditions on estimated admixture fractions for decreasing the false-positive rate.

• Klíčová slova
• qpAdm, admixture graphs, archaeogenetics, genetic admixture, simulation, stepping stone models,
• MeSH
• lidé MeSH
• modely genetické * MeSH
• populační genetika * metody   MeSH
• software * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Located in the southwestern corner of Europe, the Iberian Peninsula is separated from the rest of the continent by the Pyrenees Mountains and from Africa by the Strait of Gibraltar. This geographical position may have conditioned distinct selective pressures compared to the rest of Europe and influenced differential patterns of gene flow. In this work, we analyse 704 whole-genome sequences from the GCAT reference panel to quantify gene flow into Spain from various historical sources and identify the top signatures of positive (adaptive) selection. While we found no clear evidence of a 16th-century admixture event putatively related to the French diaspora during the Wars of Religion, we detected signals of North African admixture matching the Muslim period and the subsequent Christian Reconquista. Notably, besides finding that well-known candidate genes previously described in Eurasians also seem to be adaptive in Spain, we discovered novel top candidates for positive selection putatively associated with immunity and diet (UBL7, SMYD1, VAC14 and FDFT1). Finally, local ancestry deviation analysis revealed that the MHCIII genomic region underwent post-admixture selection following the post-Neolithic admixture with Steppe ancestry.

• Klíčová slova
• Demography, Human adaptation, Positive selection, Post-admixture selection, Selection scan, Spanish population,
• MeSH
• demografie MeSH
• fyziologická adaptace * genetika   MeSH
• genom lidský MeSH
• kohortové studie MeSH
• lidé MeSH
• populační genetika MeSH
• selekce (genetika) MeSH
• tok genů MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Španělsko MeSH

The Roma people have a complex demographic history shaped by their recent dispersal from a South Asian origin into Europe, accompanied by continuous population bottlenecks and gene flow. After settling in the Balkans around 1,000 years ago, the Roma gradually dispersed across Europe, and approximately 500 years ago, they established in the Iberian Peninsula what is now one of the largest Roma populations in Western Europe. Focusing specifically on the Iberian Roma, we conducted the most comprehensive genome-wide analysis of European Roma populations to date. Using allele frequency and haplotype-based methods, we analysed 181 individuals to investigate their genetic diversity, social dynamics, and migration histories at both continental and local scales. Our findings demonstrate significant gene flow from populations encountered during the Roma's dispersal and confirm their South Asian origins. We show that, between the 14th and 19th centuries, the Roma spread westward from the Balkans in various waves, with multiple admixture events. Furthermore, our findings refute previous hypotheses of a North African dispersal route into Iberia and genetic connections to Jewish populations. The Iberian Roma exhibit ten times greater genetic differentiation compared to non-Roma Iberians, indicating significant regional substructure. Additionally, we provide the first genetic evidence of assortative mating within Roma groups, highlighting distinct mating patterns and suggesting a gradual shift towards increased integration with non-Roma individuals. This study significantly enhances our understanding of how demographic history and complex genetic structure have shaped the genetic diversity of Roma populations, while also highlighting the influence of their evolving social dynamics.

• MeSH
• frekvence genu MeSH
• genetická variace MeSH
• haplotypy MeSH
• jednonukleotidový polymorfismus MeSH
• lidé MeSH
• migrace lidstva MeSH
• populační genetika * MeSH
• Romové * genetika   MeSH
• tok genů MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Španělsko MeSH

The Huns appeared in Europe in the 370s, establishing an Empire that reshaped West Eurasian history. Yet until today their origins remain a matter of extensive debate. Traditional theories link them to the Xiongnu, the founders of the first nomadic empire of the Mongolian steppe. The Xiongnu empire dissolved, however, ~300 y before the Huns appeared in Europe, and there is little archaeological and historical evidence of Huns in the steppe during this time gap. Furthermore, despite the rich 5th to 6th centuries current era (CE) archaeological record of the Carpathian Basin, the cultural elements of connections with the steppe are limited to few findings and even fewer solitary eastern-type burials. In this study, we coanalyze archaeological evidence with 35 newly sequenced and published genomic data for a total of 370 individuals-from 5th to 6th century CE contexts in the Carpathian Basin including 10 Hun-period eastern-type burials, 2nd to 5th century sites across Central Asia and 2nd c. before current era (BCE) to 1st c. CE Xiongnu period sites across the Mongolian steppe. We find no evidence for the presence of a large eastern/steppe descent community among the Hun- and post-Hun-period Carpathian Basin population. We also observe a high genetic diversity among the eastern-type burials that recapitulates the variability observed across the Eurasian Steppe. This suggests a mixed origin of the incoming steppe conquerors. Nevertheless, long-shared genomic tracts provide compelling evidence of genetic lineages directly connecting some individuals of the highest Xiongnu-period elite with 5th to 6th century CE Carpathian Basin individuals, showing that some European Huns descended from them.

• Klíčová slova
• Huns, Middle Ages, Xiongnu, ancient DNA, trans-Eurasian mobility,
• MeSH
• archeologie MeSH
• dějiny starověku MeSH
• genom lidský * MeSH
• lidé MeSH
• migrace lidstva * dějiny   MeSH
• starobylá DNA * analýza   MeSH
• východní Asiaté MeSH
• Check Tag
• dějiny starověku MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• historické články MeSH
• Geografické názvy
• Evropa MeSH
• Názvy látek
• starobylá DNA * MeSH

The Yamnaya archaeological complex appeared around 3300 BC across the steppes north of the Black and Caspian Seas, and by 3000 BC it reached its maximal extent, ranging from Hungary in the west to Kazakhstan in the east. To localize Yamnaya origins among the preceding Eneolithic people, we assembled ancient DNA from 435 individuals, demonstrating three genetic clines. A Caucasus-lower Volga (CLV) cline suffused with Caucasus hunter-gatherer1 ancestry extended between a Caucasus Neolithic southern end and a northern end at Berezhnovka along the lower Volga river. Bidirectional gene flow created intermediate populations, such as the north Caucasus Maikop people, and those at Remontnoye on the steppe. The Volga cline was formed as CLV people mixed with upriver populations of Eastern hunter-gatherer2 ancestry, creating hypervariable groups, including one at Khvalynsk. The Dnipro cline was formed when CLV people moved west, mixing with people with Ukraine Neolithic hunter-gatherer ancestry3 along the Dnipro and Don rivers to establish Serednii Stih groups, from whom Yamnaya ancestors formed around 4000 BC and grew rapidly after 3750-3350 BC. The CLV people contributed around four-fifths of the ancestry of the Yamnaya and, entering Anatolia, probably from the east, at least one-tenth of the ancestry of Bronze Age central Anatolians, who spoke Hittite4,5. We therefore propose that the final unity of the speakers of 'proto-Indo-Anatolian', the language ancestral to both Anatolian and Indo-European people, occurred in CLV people some time between 4400 BC and 4000 BC.

• MeSH
• běloši genetika   dějiny   MeSH
• dějiny starověku MeSH
• Evropané MeSH
• fylogeneze MeSH
• haplotypy MeSH
• lidé MeSH
• migrace lidstva * dějiny   MeSH
• mitochondriální DNA analýza   MeSH
• populační genetika * MeSH
• řeky MeSH
• starobylá DNA analýza   MeSH
• tok genů MeSH
• Check Tag
• dějiny starověku MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• historické články MeSH
• Názvy látek
• mitochondriální DNA MeSH
• starobylá DNA MeSH

The Fulani people, one of the most important pastoralist groups in sub-Saharan Africa, are still largely underrepresented in population genomic research. They speak a Niger-Congo language called Fulfulde or Pulaar and live in scattered locations across the Sahel/Savannah belt, from the Atlantic Ocean to Lake Chad. According to historical records, their ancestors spread from Futa Toro in the Middle Senegal Valley to Futa-Jallon in Guinea and then eastward into the Sahel belt over the past 1,500 years. However, the earlier history of this traditionally pastoral population has not been well studied. To uncover the genetic structure and ancestry of this widespread population, we gathered genome-wide genotype data from 460 individuals across 18 local Fulani populations, along with comparative data from both modern and ancient worldwide populations. This represents a comprehensive geographically wide-scaled genome-wide study of the Fulani. We revealed a genetic component closely associated with all local Fulani populations, suggesting a shared ancestral component possibly linked to the beginning of African pastoralism in the Green Sahara. Comparison to ancient DNA results also identified the presence of an ancient Iberomaurusian-associated component across all Fulani groups, providing additional insights into their deep genetic history. Additionally, our genetic data indicate a later Fulani expansion from the western to the eastern Sahel, characterized by a clinal pattern and admixture with several other African populations north of the equator.

• Klíčová slova
• Africa, Fulani, Sahel, admixture, ancient DNA, genomics, migration, population structure,
• MeSH
• černoši * genetika   MeSH
• etnicita * genetika   MeSH
• genom lidský MeSH
• genotyp MeSH
• jednonukleotidový polymorfismus genetika   MeSH
• lidé MeSH
• migrace lidstva * dějiny   MeSH
• populační genetika * MeSH
• Středoafričané MeSH
• Východoafričané MeSH
• Západoafričané MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• subsaharská Afrika MeSH

qpAdm is a statistical tool that is often used for testing large sets of alternative admixture models for a target population. Despite its popularity, qpAdm remains untested on two-dimensional stepping-stone landscapes and in situations with low pre-study odds (low ratio of true to false models). We tested high-throughput qpAdm protocols with typical properties such as number of source combinations per target, model complexity, model feasibility criteria, etc. Those protocols were applied to admixture-graph-shaped and stepping-stone simulated histories sampled randomly or systematically. We demonstrate that false discovery rates of high-throughput qpAdm protocols exceed 50% for many parameter combinations since: 1) pre-study odds are low and fall rapidly with increasing model complexity; 2) complex migration networks violate the assumptions of the method, hence there is poor correlation between qpAdm p-values and model optimality, contributing to low but non-zero false positive rate and low power; 3) although admixture fraction estimates between 0 and 1 are largely restricted to symmetric configurations of sources around a target, a small fraction of asymmetric highly non-optimal models have estimates in the same interval, contributing to the false positive rate. We also re-interpret large sets of qpAdm models from two studies in terms of source-target distance and symmetry and suggest improvements to qpAdm protocols: 1) temporal stratification of targets and proxy sources in the case of admixture-graph-shaped histories; 2) focused exploration of few models for increasing pre-study odds; 3) dense landscape sampling for increasing power and stringent conditions on estimated admixture fractions for decreasing the false positive rate.

• Klíčová slova
• admixture graphs, archaeogenetics, genetic admixture, qpAdm, simulation, stepping-stone models,
• Publikační typ
• časopisecké články MeSH
• preprinty MeSH