The genomic origins of the world's first farmers.

The precise genetic origins of the first Neolithic farming populations in Europe and Southwest Asia, as well as the processes and the timing of their differentiation, remain largely unknown. Demogenomic modeling of high-quality ancient genomes reveals that the early farmers of Anatolia and Europe emerged from a multiphase mixing of a Southwest Asian population with a strongly bottlenecked western hunter-gatherer population after the last glacial maximum. Moreover, the ancestors of the first farmers of Europe and Anatolia went through a period of extreme genetic drift during their westward range expansion, contributing highly to their genetic distinctiveness. This modeling elucidates the demographic processes at the root of the Neolithic transition and leads to a spatial interpretation of the population history of Southwest Asia and Europe during the late Pleistocene and early Holocene.

The pathological anatomical collection of the Natural History Museum Vienna.

The pathological anatomical collection Vienna (Pathologisch-Anatomische Sammlung Wien; PASW) is a living and still growing research collection. It was established as early as 1796 as part of the Medical University of Vienna, acquired the status of an independent federal museum in 1971, and was assigned to the Natural History Museum Vienna in 2012. It houses a wide range of human wet and dry specimens and further objects, such as moulages, medical devices, microbiological and histological specimens, and a photo archive (approximately 50,000 objects), which, as a meaningful source, may contribute to disclosing not only aspects of the medical history and the development of corresponding museums in Vienna, but is also considered a collection of cultural and current scientific relevance, quite comparable to today's biobanks. Most of the tissue amassment represents wet organic specimens and human skeletons or skeletal elements representing, e.g., congenital and metabolic disorders, infectious diseases, injuries, neoplasms, or musculoskeletal diseases, basically collected as descriptive anatomical teaching aids. This article reviews the current medical issues on which research has been and is being conducted by including PASW specimens (hereby using the ICD-10 code), and the extent to and ethical conditions under which this important heritage could be used as a reference collection for clinical and bioanthropological (paleopathological and palaeoepidemiological) studies; finally, this article reflects on the value and future research prospects, taking into account different positions and the ongoing discussions in pathological anatomical human tissue collections.

The genetic history of Ice Age Europe.

Modern humans arrived in Europe ~45,000 years ago, but little is known about their genetic composition before the start of farming ~8,500 years ago. Here we analyse genome-wide data from 51 Eurasians from ~45,000-7,000 years ago. Over this time, the proportion of Neanderthal DNA decreased from 3-6% to around 2%, consistent with natural selection against Neanderthal variants in modern humans. Whereas there is no evidence of the earliest modern humans in Europe contributing to the genetic composition of present-day Europeans, all individuals between ~37,000 and ~14,000 years ago descended from a single founder population which forms part of the ancestry of present-day Europeans. An ~35,000-year-old individual from northwest Europe represents an early branch of this founder population which was then displaced across a broad region, before reappearing in southwest Europe at the height of the last Ice Age ~19,000 years ago. During the major warming period after ~14,000 years ago, a genetic component related to present-day Near Easterners became widespread in Europe. These results document how population turnover and migration have been recurring themes of European prehistory.

Paget's Disease of Long Bones: Microstructural Analyses of Historical Bone Samples.

Although Paget's disease of bone (PDB) is the second most common metabolic bone disease, there is only limited information about the microarchitecture of affected bones. Therefore, the aim of this study was to determine cortical and trabecular bone properties in clinically relevant locations by microcomputed tomography (µCT). Ten femora and ten tibiae affected by Paget's disease taken from the Natural History Museum Vienna were compared to 13 femora and 10 tibiae of non-affected body donors. Digitization of the cortical and trabecular bone microarchitecture was performed with an X-ray-based µCT scanner. Additionally, semi-quantitative gradings of trabecular and cortical architectural parameters of the femora and the tibiae were generated. Microcomputed tomography images showed changes in the thickness of cortices, cortical porosity, and trabecularization of cortical structures. Moreover, severe disorganization of trabecular structures, trabecular defects, and thickening of (remaining) trabeculae were detected. Numerical cortical analyses showed lower total bone volume (BV) and lower BV in the outer region (66-100%) (- 36%, p = 0.004, and - 50%, p < 0.001, respectively), lower total volume (TV) in the outer region (66-100%) (- 42%, p < 0.001), lower total bone volume fraction (BV/TV) and BV/TV in the outer region (66-100%) (- 23%, and - 12%, p < 0.001, respectively), higher BV and TV in the middle region (33-66%) and higher BV/TV in the inner region (0-33%) (123%, p = 0.011, 147%, p = 0.010, and 33%, p = 0.025, respectively) in Pagetic compared to non-affected bones. Trabecular analyses showed higher BV/TV (96%, p = 0.008) and Tb.Th (43%, p = 0.004) in Pagetic compared to non-affected bones. There is a major and consistent structural alteration of PDB at cortical and trabecular sites in weight-bearing long bones. Our findings are relevant for the differential diagnosis of PDB and for the pathogenesis of associated complications, since the disorder produces abnormalities in the structure that might lead to bone fragility.

A combined chemical imaging approach using (MC) LA-ICP-MS and NIR-HSI to evaluate the diagenetic status of bone material for Sr isotope analysis.

This paper presents a combination of elemental and isotopic spatial distribution imaging with near-infrared hyperspectral imaging (NIR-HSI) to evaluate the diagenetic status of skeletal remains. The aim is to assess how areas with biogenic n(87Sr)/n(86Sr) isotope-amount ratios may be identified in bone material, an important recorder complementary to teeth. Elemental (C, P, Ca, Sr) and isotopic (n(87Sr)/n(86Sr)) imaging were accomplished via laser ablation (LA) coupled in a split stream to a quadrupole inductively coupled plasma mass spectrometer (ICP-QMS) and a multicollector inductively coupled plasma mass spectrometer (MC ICP-MS) (abbreviation for the combined method LASS ICP-QMS/MC ICP-MS). Biogenic areas on the bone cross section, which remained unaltered by diagenetic processes, were localized using chemical indicators (I(C)/I(Ca) and I(C) × 10/I(P) intensity ratios) and NIR-HSI at a wavelength of 1410 nm to identify preserved collagen. The n(87Sr)/n(86Sr) isotope signature analyzed in these areas was in agreement with the biogenic bulk signal revealed by solubility profiling used as an independent method for validation. Elevated C intensities in the outer rim of the bone, caused by either precipitated secondary minerals or adsorbed humic materials, could be identified as indication for diagenetic alteration. These areas also show a different n(87Sr)/n(86Sr) isotopic composition. Therefore, the combination of NIR-HSI and LASS ICP-QMS/MC ICP-MS allows for the determination of preserved biogenic n(87Sr)/n(86Sr) isotope-amount ratios, if the original biogenic material has not been entirely replaced by diagenetic material. Graphical abstract ᅟ.

Community differentiation and kinship among Europe's first farmers.

Community differentiation is a fundamental topic of the social sciences, and its prehistoric origins in Europe are typically assumed to lie among the complex, densely populated societies that developed millennia after their Neolithic predecessors. Here we present the earliest, statistically significant evidence for such differentiation among the first farmers of Neolithic Europe. By using strontium isotopic data from more than 300 early Neolithic human skeletons, we find significantly less variance in geographic signatures among males than we find among females, and less variance among burials with ground stone adzes than burials without such adzes. From this, in context with other available evidence, we infer differential land use in early Neolithic central Europe within a patrilocal kinship system.

First genetic evidence of leprosy in early medieval Austria.

Leprosy used to be a widespread, dreaded disease in Europe during the middle ages, and it still remains an important health problem in some parts of the world today. Herein, we present data on the earliest 'Austrian' (an adult female from the early medieval period) proven to have suffered from leprosy. Manifestations of the disease were first identified during a systematic screening of pathological changes in skeletons recovered from an archaeological site in Pottenbrunn (Lower Austria). In the present study, DNA extracts from selected cranial and postcranial bone samples were investigated using polymerase chain reaction primers specific to the Mycobacterium leprae (M. leprae) repetitive element (RLEP). M. leprae traces were detected in extracts from nasal and palatine bones. Sequence analysis of informative polymorphic sites supports previous reports indicating that European M. leprae strains fall into single nucleotide polymorphism group 3. In summary, these findings put Austria on the map of confirmed leprosy cases in ancient Europe.

Upper Palaeolithic infant burials.

Decorations on the bodies of newborns indicate that they were probably important in their community. Several adult graves from the Stone Age (Upper Palaeolithic period) have been found but child burials seem to be rare, which has prompted discussion about whether this apparently different treatment of infants could be significant. Here we describe two recently discovered infant burials from this period at Krems-Wachtberg in Lower Austria, in which the bodies were covered with red ochre and decorated with ornaments and were therefore probably ritually buried. These findings indicate that even newborns were considered to be full members of these hunter-gatherer communities about 27,000 years ago.

Diagnosis of contact injuries in a mediaeval skeleton analysed by µCT and histology.

During an archaeological excavation in Altenberg/Linz (Upper Austria), the well-preserved skeletal remains of a mature male dated the 13th century AD were recovered. Several elements of the skeleton yielded alterations caused by trauma: beside a malunion of the left ulna which was accompanied by shortening of the diaphysis, a luxation and deformation of the left radial head was observed (Monteggia-type lesion, Bado-type I). Moreover, at the anterior aspect of the corresponding humerus, a chalice-shaped, newly built bone structure that framed the displaced capitulum radii was visible. This structure formed a sort of "alternative joint" that functionally even allowed some movements, although considerably restricted in regard to flexion/extension and even more in pronation/supination.To verify the assumption of a "single event", we not only investigated the concerned skeletal portions by gross-anatomical examination, but also by non-invasive conventional radiological, micro-computed tomographical, and histological techniques. Particular morphological features, injuries at the calvarium, and fractures of other postcranial elements imply the scenario of a close combat; although survived, the traumata obviously resulted in partial invalidity.

Microarchitecture of historic bone samples with tuberculosis.

Tuberculosis is among the leading causes of death from infectious diseases and affects many organ systems, including the skeleton. Skeletal tuberculosis is an extrapulmonary stage of tuberculosis, which occurs after the early and post-primary pulmonary stages of the disease. The aim of our study was to assess the microarchitecture of historic dry bone samples of subjects who have died of tuberculosis documented by post-mortem examinations. These preparations date to the pre-antibiotic era, and were provided by the Pathological-Anatomical Collection in the "Fools Tower" of the Natural History Museum Vienna (PASiN-NHM).We investigated macerated samples of 20 vertebral bodies, 19 femoral heads, and 20 tibiae of a total of 59 individuals diagnosed with tuberculosis from the nineteenth and early twentieth century. 10 femora and 10 tibiae from body donors that did not exhibit signs of infection and 10 (unaffected) vertebrae kept at the PASiN-NHM were studied as controls. The affected regions of the bone samples (and the corresponding regions of the control bones) were analyzed by microcomputed tomography using a Viscom X 8060 II system. Obtained images were analyzed semi-quantitatively. In samples with tuberculosis, independent of the investigated skeletal region, trabecular defects and decreased trabecular thickness were observed. Cortical porosity was seen in affected vertebrae and tibia; in tuberculous tibiae (but not in the femora) cortical thickness was decreased. In half of the individuals, cortical sclerosis was present; signs of ankylosis were observed mainly at the femoral heads affected with tuberculosis. We conclude that a combination of several alterations at the trabecular compartment could be suggestive of the presence of tuberculosis in historic skeletal remains.

Direct dating of Early Upper Palaeolithic human remains from Mladec.

The human fossil assemblage from the Mladec Caves in Moravia (Czech Republic) has been considered to derive from a middle or later phase of the Central European Aurignacian period on the basis of archaeological remains (a few stone artefacts and organic items such as bone points, awls, perforated teeth), despite questions of association between the human fossils and the archaeological materials and concerning the chronological implications of the limited archaeological remains. The morphological variability in the human assemblage, the presence of apparently archaic features in some specimens, and the assumed early date of the remains have made this fossil assemblage pivotal in assessments of modern human emergence within Europe. We present here the first successful direct accelerator mass spectrometry radiocarbon dating of five representative human fossils from the site. We selected sample materials from teeth and from one bone for 14C dating. The four tooth samples yielded uncalibrated ages of approximately 31,000 14C years before present, and the bone sample (an ulna) provided an uncertain more-recent age. These data are sufficient to confirm that the Mladec human assemblage is the oldest cranial, dental and postcranial assemblage of early modern humans in Europe and is therefore central to discussions of modern human emergence in the northwestern Old World and the fate of the Neanderthals.

Micro-CT evaluation of historical human skulls presenting signs of syphilitic infection.

BACKGROUND: In tertiary syphilis, Treponema pallidum triggers the formation of granulomatous nodules in various organs of the human body. Within the skeleton, predominantly in the skull and long bones, these characteristic syphilitic lesions cause typical patterns of bone damage. In this study, micro-computed tomography (µ-CT) was used to assess the microarchitecture of these osseous defects in untreated syphilitic skull bones. MATERIAL AND METHODS: Bone structure of 30 macerated human skulls was noninvasively examined by means of µ-CT images (Viscom X8060 NDT). A total of 20 specimens showing typical morphological signs of syphilis were provided by the Collection of Anatomical Pathology of the Museum of Natural History in Vienna. They were compared to 10 macerated control skulls provided by the Division of Anatomy of the Medical University of Vienna. RESULTS: All samples affected by syphilis showed perforating defects and increased porosity. Furthermore, we observed sclerotic reorganization and complete loss of the cortical bone in 80% of infected cases. Cortical thinning occurred in 75%. CONCLUSION: Our findings revealed extensive micromorphological bone destruction and a broad variability of osseous manifestations of (tertiary) syphilis.

Sagittal suture morphological variation in human archaeological populations.

Cranial sutures join the many bones of the skull. They are therefore points of weakness and consequently subjected to the many mechanical stresses affecting the cranium. However, the way in which this impacts their morphological complexity remains unclear. We examine the intrinsic and extrinsic mechanisms of human sagittal sutures by quantifying the morphology from 107 individuals from archaeological populations spanning the Mesolithic to Middle ages, using standardized two-dimensional photographs. Results show that the most important factor determining sutural complexity appears to be the position along the cranial vault from the junction with the coronal suture at its anterior-most point to the junction with the lambdoid suture at its posterior-most point. Conversely, factors such as age and lifeways show few trends in complexity, the most significant of which is a lower complexity in the sutures of Mesolithic individuals who consumed a tougher diet. The simple technique used in this study therefore allowed us to identify that, taken together, structural aspects play a more important role in defining the complexity of the human sagittal suture than extrinsic factors such as the mechanical forces imposed on the cranium by individuals' diet.

The dietary behavior of two early medieval individuals with temporomandibular ankylosis.

OBJECTIVES: This study aimed to reconstruct the dietary behavior of two early medieval individuals who display gnathic malformation. MATERIAL: Two skeletons affected by temporomandibular ankylosis were analyzed, one from the Great Moravian burial site of Rajhradice (9th century AD, Czech Republic), and the other from the Avar burial site of SchÓ§nkirchen (8th century AD, Austria). METHODS: Carbon and nitrogen isotopic values were measured from the bone collagen of both individuals. In the Rajhradice case, where the childhood origin of ankylosis is deduced, isotopic analysis of dentine sections was performed. RESULTS: Both individuals show isotopic values within the range of variation of a contemporaneous population sample. There was no observable dietary change in the Rajhradice individual that could be linked to the occurrence of ankylosis. CONCLUSIONS: Both individuals consumed diets typical for their populations. They appear to not have restricted access to foodstuffs, namely animal protein, which would likely have had to be served in liquid (e.g. milk) or in a highly mashed form to compensate for insufficient mastication. SIGNIFICANCE: This finding provides specific evidence of care provided to these two afflicted members of past populations. LIMITATIONS: Though the proportion of animal protein is an important indicator of the quality of diet, many other aspects of diet - such as micronutrient content - elude stable isotope analysis. SUGGESTIONS FOR FURTHER RESEARCH: Amino acid compound specific isotope analyses of collagen would provide deeper insight into both the diet and physiology of the affected individuals.

Ancient DNA reveals monozygotic newborn twins from the Upper Palaeolithic.

The Upper Palaeolithic double burial of newborns and the single burial of a ca. 3-month-old infant uncovered at the Gravettian site of Krems-Wachtberg, Austria, are of paramount importance given the rarity of immature human remains from this time. Genome-wide ancient DNA shows that the male infants of the double grave are the earliest reported case of monozygotic twins, while the single grave´s individual was their 3rd-degree male relative. We assessed the individuals´ age at death by applying histological and µCT inspection of the maxillary second incisors (i2) in conjunction with C- and N-isotope ratios and Barium (Ba) intake as biomarker for breastfeeding. The results show that the twins were full-term newborns, and that while individual 2 died at birth, individual 1 survived for about 50 days. The findings show that Gravettian mortuary behaviour also included re-opening of a grave and manipulation of its layout and content.

The spread of steppe and Iranian-related ancestry in the islands of the western Mediterranean.

Steppe-pastoralist-related ancestry reached Central Europe by at least 2500 BC, whereas Iranian farmer-related ancestry was present in Aegean Europe by at least 1900 BC. However, the spread of these ancestries into the western Mediterranean, where they have contributed to many populations that live today, remains poorly understood. Here, we generated genome-wide ancient-DNA data from the Balearic Islands, Sicily and Sardinia, increasing the number of individuals with reported data from 5 to 66. The oldest individual from the Balearic Islands (~2400 BC) carried ancestry from steppe pastoralists that probably derived from west-to-east migration from Iberia, although two later Balearic individuals had less ancestry from steppe pastoralists. In Sicily, steppe pastoralist ancestry arrived by ~2200 BC, in part from Iberia; Iranian-related ancestry arrived by the mid-second millennium BC, contemporary to its previously documented spread to the Aegean; and there was large-scale population replacement after the Bronze Age. In Sardinia, nearly all ancestry derived from the island's early farmers until the first millennium BC, with the exception of an outlier from the third millennium BC, who had primarily North African ancestry and who-along with an approximately contemporary Iberian-documents widespread Africa-to-Europe gene flow in the Chalcolithic. Major immigration into Sardinia began in the first millennium BC and, at present, no more than 56-62% of Sardinian ancestry is from its first farmers. This value is lower than previous estimates, highlighting that Sardinia, similar to every other region in Europe, has been a stage for major movement and mixtures of people.

Author Correction: The spread of steppe and Iranian-related ancestry in the islands of the western Mediterranean.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Interactions between earliest Linearbandkeramik farmers and central European hunter gatherers at the dawn of European Neolithization.

Archaeogenetic research over the last decade has demonstrated that European Neolithic farmers (ENFs) were descended primarily from Anatolian Neolithic farmers (ANFs). ENFs, including early Neolithic central European Linearbandkeramik (LBK) farming communities, also harbored ancestry from European Mesolithic hunter gatherers (WHGs) to varying extents, reflecting admixture between ENFs and WHGs. However, the timing and other details of this process are still imperfectly understood. In this report, we provide a bioarchaeological analysis of three individuals interred at the Brunn 2 site of the Brunn am Gebirge-Wolfholz archeological complex, one of the oldest LBK sites in central Europe. Two of the individuals had a mixture of WHG-related and ANF-related ancestry, one of them with approximately 50% of each, while the third individual had approximately all ANF-related ancestry. Stable carbon and nitrogen isotope ratios for all three individuals were within the range of variation reflecting diets of other Neolithic agrarian populations. Strontium isotope analysis revealed that the ~50% WHG-ANF individual was non-local to the Brunn 2 area. Overall, our data indicate interbreeding between incoming farmers, whose ancestors ultimately came from western Anatolia, and local HGs, starting within the first few generations of the arrival of the former in central Europe, as well as highlighting the integrative nature and composition of the early LBK communities.

Enhanced methods for assessment of the trace element composition of Iron Age bone.

Modern, ultra-trace, analytical methods, coupled with magnetic sector ICP-MS (HR-ICP-MS), were applied to the determination of a large suite of major and trace elements in Iron Age bones. The high sensitivity and un-paralleled signal-to-noise characteristics of HR-ICP-MS enabled the accurate measurement of Ag, Al, As, Ba, Ca, Cd, Ce, Co, Cr, Cu, Fe, La, Li, Mg, Mn, Ni, P, Pb, Pt, Rb, Sr, U, V, and Zn in small bone sections (<75 mg). Critically, the HR-ICP-MS effectively addressed molecular interferences, which would likely have compromised data generated with quadrupole-based ICP-MS instruments. Contamination and diagenetic alteration of ancient bone are grave concerns, which if not properly addressed, may result in serious misinterpretation of data from bone archives. Analytical procedures and several chemical and statistical methods (Principal Components Analysis - PCA) were studied to assess their utility in identifying and correcting bone contamination and diagenetic alteration. Uncertainties in bone (femur) sampling were characterized for each element and longitudinal variation was found to be the dominant source of sampling variability. However the longitudinal variation in most trace elements levels was relatively modest, ranging between 9 and 17% RSD. Bone surface contamination was evaluated using sequential acid leaching. Calcium-normalized metal levels in brief, timed, dilute nitric acid leaches were compared with similarly normalized interior core metal levels to assess the degree of surface enrichment. A select group of metals (Mn, Co, Ni, Ag, Cd, and Pt) were observed to be enriched by up to a factor of 10 in the bone surface, indicating that that these elements may have a higher contamination component. However, the results of sequential acid leaching experiments indicated that the single acid leaching step was effective in removing most surface-enriched contaminants. While the leaching protocol was effective in removing contaminants associated with the bone surface, there remained potentially significant residual levels of soil-sourced contaminant tracers within the leached bone. To address this issue a mathematical procedure, based on metal/aluminum ratios, was developed to correct-for the soil-contaminant metal pools. Soil correction fractions for the primary anthropogenically mobilized metals evaluated were greatest for Pb (13.6%) followed by As (4.4%), Ag (3.9%), and Cd (0.94%). Although median soil corrections were typically low, many samples did require a much larger correction, thus both bone cleaning and soil corrections may be necessary to realize accurate endogenous bone elemental data. The results of the PCA analysis were remarkably consistent with outcomes from the chemical and elemental ratio protocols evaluated in the study, and suggest that loadings on certain factors will be helpful in screening for soil-biased samples and in identifying diagenetically altered bone. Application of these contamination evaluation and correction tools was made possible by the high-quality, multi-element, datasets produced by HR-ICP-MS. Large variations in bone core concentrations between the 80 Iron Age specimens examined were observed for all the primary trace elements and in many of the supporting elements, even after correction for major contaminant components.

Resolving the matrilineal relationship of seven Late Bronze Age individuals from Stillfried, Austria.

In 1976 human remains of seven individuals were discovered in a storage pit located within the Late Bronze Age (9th century B.C.) settlement Stillfried an der March, Austria. In contrast to the common funeral rite of cremation typical for the Urnfield culture (1300-800 B.C.) the individuals' skeletal remains were found outstandingly preserved (Figure S1). As a result, the burial was subject to various investigations, including two conflicting genealogical pedigree reconstructions, one of which was favoured by later geological fingerprinting. We performed mitochondrial (mt)DNA testing in order to genetically characterize the remains and shed light into the matrilineal relationship of the seven individuals that were earlier anthropologically identified as three adults (two women and a man) and four subadults (one female and three males). MtDNA was analysed using Primer Extension Capture and Massively Parallel Sequencing. The results were by and large in conflict with both pedigree models but confirmed some of the details that were elaborated in previous studies. Whereas both pedigree models suggested that all children were related to one or both females, mtDNA analyses revealed that only one subadult male resulted in the same mitotype as one adult female. All other children yielded different mitotypes indicating that they were maternally unrelated to the two females and between each other.