Heterogeneous Hunter-Gatherer and Steppe-Related Ancestries in Late Neolithic and Bell Beaker Genomes from Present-Day France.

The transition from the Late Neolithic to the Bronze Age has witnessed important population and societal changes in western Europe.1 These include massive genomic contributions of pastoralist herders originating from the Pontic-Caspian steppes2,3 into local populations, resulting from complex interactions between collapsing hunter-gatherers and expanding farmers of Anatolian ancestry.4-8 This transition is documented through extensive ancient genomic data from present-day Britain,9,10 Ireland,11,12 Iberia,13 Mediterranean islands,14,15 and Germany.8 It remains, however, largely overlooked in France, where most focus has been on the Middle Neolithic (n = 63),8,9,16 with the exception of one Late Neolithic genome sequenced at 0.05× coverage.16 This leaves the key transitional period covering ∼3,400-2,700 cal. years (calibrated years) BCE genetically unsampled and thus the exact time frame of hunter-gatherer persistence and arrival of steppe migrations unknown. To remediate this, we sequenced 24 ancient human genomes from France spanning ∼3,400-1,600 cal. years BCE. This reveals Late Neolithic populations that are genetically diverse and include individuals with dark skin, hair, and eyes. We detect heterogeneous hunter-gatherer ancestries within Late Neolithic communities, reaching up to ∼63.3% in some individuals, and variable genetic contributions of steppe herders in Bell Beaker populations. We provide an estimate as late as ∼3,800 years BCE for the admixture between Neolithic and Mesolithic populations and as early as ∼2,650 years BCE for the arrival of steppe-related ancestry. The genomic heterogeneity characterized underlines the complex history of human interactions even at the local scale.

Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series.

Horse domestication revolutionized warfare and accelerated travel, trade, and the geographic expansion of languages. Here, we present the largest DNA time series for a non-human organism to date, including genome-scale data from 149 ancient animals and 129 ancient genomes (≥1-fold coverage), 87 of which are new. This extensive dataset allows us to assess the modern legacy of past equestrian civilizations. We find that two extinct horse lineages existed during early domestication, one at the far western (Iberia) and the other at the far eastern range (Siberia) of Eurasia. None of these contributed significantly to modern diversity. We show that the influence of Persian-related horse lineages increased following the Islamic conquests in Europe and Asia. Multiple alleles associated with elite-racing, including at the MSTN "speed gene," only rose in popularity within the last millennium. Finally, the development of modern breeding impacted genetic diversity more dramatically than the previous millennia of human management.

The antiquity of the spondyloarthritides: Presentation of one of the oldest Neolithic cases in Western Europe.

In humans, little is yet known about the origins of the inflammatory rheumatisms of the spondyloarthritides group, especially regarding the period of their emergence. However, a better knowledge of their history would help to clarify their aetiology. We report a paleopathological case of European origin, dated from the late Neolithic (3621-3023 cal BC), consisting of an isolated vertebral block combining erosion, ossification and severe anterior and posterior ankylosis. The lesional presentation is very suggestive of a severe form of axial spondyloarthritis. This specimen and some other rare cases from the same period found in Western Europe suggest that these diseases appeared, in this geographical region, in evolving groups of humans as part of the demographic and epidemiological transition that constituted the Neolithic period. The emergence of infectious agents and the profound dietary changes that occurred during this period of human history may have favoured the appearance of the spondyloarthritides.

Ancestry of modern Europeans: contributions of ancient DNA.

Understanding the peopling history of Europe is crucial to comprehend the origins of modern populations. Of course, the analysis of current genetic data offers several explanations about human migration patterns which occurred on this continent, but it fails to explain precisely the impact of each demographic event. In this context, direct access to the DNA of ancient specimens allows the overcoming of recent demographic phenomena, which probably highly modified the constitution of the current European gene pool. In recent years, several DNA studies have been successfully conducted from ancient human remains thanks to the improvement of molecular techniques. They have brought new fundamental information on the peopling of Europe and allowed us to refine our understanding of European prehistory. In this review, we will detail all the ancient DNA studies performed to date on ancient European DNA from the Middle Paleolithic to the beginning of the protohistoric period.

Virtual and macroscopical studies of mummies--differences or complementarity? Report of a natural frozen Siberian mummy.

Since 2004, a multidisciplinary Franco-Russian expedition discovered in the Sakha Republic (Yakutiya) more than 60 tombs preserved by the permafrost. In July 2006, an exceptionally well-preserved mummy was unearthed. The coffin, burial furniture and clothes suggested a shaman's tomb. Multislice computed tomography (MSCT) was performed before autopsy with forensic and anthropological aims. Forensic study aimed to detect any lesions and determine the manner of death. Anthropological study aimed to determine the mummy's gender, age at death, morphological affinity, stature and body mass. She was female and virginity status was assessed. The radiological and forensic conclusions were compared. Imaging confirmed most autopsy findings, suggesting that death followed disseminated infection. MSCT could not formally exclude a traumatic death because close examination of the skin was difficult, but was superior to conventional autopsy in diagnosis of infectious lesions of the left sacroiliac joint and one pelvic lesion. Autopsy detected a post-infectious spinal lesion, misinterpreted on MSCT as a Schmorl's node. However, most conclusions of virtual and conventional anthropological studies agreed. Age at death was estimated around 19 years old. The morphology of the mummy was mongoloid. MSCT identified the craniometric characteristics as similar to those of the Buryat population. The deceased's stature was 146 cm and estimated body mass was 49 kg. MSCT demonstrated its great potential and complementarity with conventional autopsy and anthropological techniques in the study of this natural female mummy buried in 1728.

Epidemiology of osteoarthritis and enthesopathies in a European population dating back 7700 years.

OBJECTIVES: To investigate the epidemiology of bone changes related to degenerative joint disease and enthesopathies in the earliest Neolithic population identified in Europe (dated back 7700 years), to compare the findings with those in medieval and contemporary populations, and to draw etiological inferences. METHODS: Examination of the skeletal remains of 119 individuals older than 20 years of age at death and buried in two Central European cemeteries dated as far back as 7700 years (5700 BC). RESULTS: The propensity for developing degenerative disease seemed to vary among individuals, as it does today. The hands, shoulder, and hip were common targets of osteoarthritis, as they are today, and the elbow was more likely to be affected in the Neolithic and medieval populations than in contemporary populations. When age of the individuals is taken into account, the prevalence of knee osteoarthritis does not seem to have changed substantially overtime. CONCLUSIONS: These results attest to the major role of microtrauma in osteoarthritis of the upper limb joints. At the other joints, after correction for age, the prevalence of degenerative disease and the combinations of joint involvements have remained remarkably constant over time, suggesting a major role for genetic factors (bone formers) already present in European populations in the early Neolithic period.