Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA.

Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials. We perform comparative osteological examinations of the skeletal remains and find overlapping skeletal markers, many of which are consistent with these syndromes. Interestingly, three cases of trisomy 21, and the case of trisomy 18 were detected in two contemporaneous sites in early Iron Age Spain (800-400 BCE), potentially suggesting a higher frequency of burials of trisomy carriers in those societies. Notably, the care with which the burials were conducted, and the items found with these individuals indicate that ancient societies likely acknowledged these individuals with trisomy 18 and 21 as members of their communities, from the perspective of burial practice.

Kinship practices in the early state El Argar society from Bronze Age Iberia.

The Early Bronze Age in Europe is characterized by social and genetic transformations, starting in the early 3rd millennium BCE. New settlement and funerary structures, artifacts and techniques indicate times of change with increasing economic asymmetries and political hierarchization. Technological advances in metallurgy also played an important role, facilitating trade and exchange networks, which became tangible in higher levels of mobility and connectedness. Archeogenetic studies have revealed a substantial transformation of the genetic ancestry around this time, ultimately linked to the expansion of steppe- and forest steppe pastoralists from Eastern Europe. Evidence for emerging infectious diseases such as Yersinia pestis adds further complexity to these tumultuous and transformative times. The El Argar complex in southern Iberia marks the genetic turnover in southwestern Europe ~ 2200 BCE that accompanies profound changes in the socio-economic structure of the region. To answer the question of who was buried in the emblematic double burials of the El Argar site La Almoloya, we integrated results from biological relatedness analyses and archaeological funerary contexts and refined radiocarbon-based chronologies from 68 individuals. We find that the El Argar society was virilocally and patrilineally organized and practiced reciprocal female exogamy, supported by pedigrees that extend up to five generations along the paternal line. Synchronously dated adult males and females from double tombs were found to be unrelated mating partners, whereby the incoming females reflect socio-political alliances among El Argar groups. In three cases these unions had common offspring, while paternal half-siblings also indicate serial monogamy or polygyny.

Genomic transformation and social organization during the Copper Age-Bronze Age transition in southern Iberia.

The emerging Bronze Age (BA) of southeastern Iberia saw marked social changes. Late Copper Age (CA) settlements were abandoned in favor of hilltop sites, and collective graves were largely replaced by single or double burials with often distinctive grave goods indirectly reflecting a hierarchical social organization, as exemplified by the BA El Argar group. We explored this transition from a genomic viewpoint by tripling the amount of data available for this period. Concomitant with the rise of El Argar starting ~2200 cal BCE, we observe a complete turnover of Y-chromosome lineages along with the arrival of steppe-related ancestry. This pattern is consistent with a founder effect in male lineages, supported by our finding that males shared more relatives at sites than females. However, simple two-source models do not find support in some El Argar groups, suggesting additional genetic contributions from the Mediterranean that could predate the BA.

Reconstructing Bronze Age diets and farming strategies at the early Bronze Age sites of La Bastida and Gatas (southeast Iberia) using stable isotope analysis.

The El Argar society of the Bronze Age in the southeast of the Iberian Peninsula (2200-1550 cal BCE) was among the first complex societies in Europe. Its economy was based on cereal cultivation and metallurgy, it was organized hierarchically, and successively expanded its territory. Most of the monumentally fortified settlements lay on steeply sloped mountains, separated by fertile plains, and allowed optimal control of the area. Here, we explore El Argar human diets, animal husbandry strategies, and food webs using stable carbon and nitrogen isotope analysis of charred cereal grains as well as human and animal bone collagen. The sample comprised 75 human individuals from the sites of La Bastida (n = 52) and Gatas (n = 23), 32 domesticated and wild animals as well as 76 barley and 29 wheat grains from two chronological phases of a total time span of ca. 650 years. The grains indicate extensive cereal cultivation under rain-fed conditions with little to moderate application of manure. Especially at La Bastida, crops and their by-products contributed significantly to the forage of the domesticated animals, which attests to a strong interrelation of cultivation and animal husbandry. Trophic level spacing and Bayesian modelling confirm that human diets were largely based on barley with some contribution of meat or dairy products. A cross-sectional analysis of bone collagen suggests that children were breastfed until about 1.5-2 years old, and infants from Gatas may have suffered from more metabolic stress than those at La Bastida. Adults of both sexes consumed similar diets that reflect social and chronological variation to some extent. Despite significantly higher δ13C and δ15N values at La Bastida than at Gatas, the isotopic data of the staple crops and domestic animals from both sites indicate that such differences do not necessarily correspond to different average human diets, but to agricultural strategies. These results urge for a reassessment of previous isotope studies in which only human remains have been taken into account. The study highlights that disentangling the complex influences on human isotope compositions requires a firm set of comparative data.

Dataset on the evidence of bee products processing: A functional definition of a specialized type of macro-lithic tool.

The database includes spatial, chronological and technological information about the analyzed tools in the article entitled "Evidence of bee products processing: a functional definition of a specialized type of macro-lithic tool" (Ache et al., 2017 [1]). The technological information refers to the tool type, its rock type, weight, state of preservation, morphology, metrical data and functional features. We also provide an index of acronyms to properly understand the dataset published here.

Massive migration from the steppe was a source for Indo-European languages in Europe.

We generated genome-wide data from 69 Europeans who lived between 8,000-3,000 years ago by enriching ancient DNA libraries for a target set of almost 400,000 polymorphisms. Enrichment of these positions decreases the sequencing required for genome-wide ancient DNA analysis by a median of around 250-fold, allowing us to study an order of magnitude more individuals than previous studies and to obtain new insights about the past. We show that the populations of Western and Far Eastern Europe followed opposite trajectories between 8,000-5,000 years ago. At the beginning of the Neolithic period in Europe, ∼8,000-7,000 years ago, closely related groups of early farmers appeared in Germany, Hungary and Spain, different from indigenous hunter-gatherers, whereas Russia was inhabited by a distinctive population of hunter-gatherers with high affinity to a ∼24,000-year-old Siberian. By ∼6,000-5,000 years ago, farmers throughout much of Europe had more hunter-gatherer ancestry than their predecessors, but in Russia, the Yamnaya steppe herders of this time were descended not only from the preceding eastern European hunter-gatherers, but also from a population of Near Eastern ancestry. Western and Eastern Europe came into contact ∼4,500 years ago, as the Late Neolithic Corded Ware people from Germany traced ∼75% of their ancestry to the Yamnaya, documenting a massive migration into the heartland of Europe from its eastern periphery. This steppe ancestry persisted in all sampled central Europeans until at least ∼3,000 years ago, and is ubiquitous in present-day Europeans. These results provide support for a steppe origin of at least some of the Indo-European languages of Europe.