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.

Early dispersal of modern humans in Europe and implications for Neanderthal behaviour.

The appearance of anatomically modern humans in Europe and the nature of the transition from the Middle to Upper Palaeolithic are matters of intense debate. Most researchers accept that before the arrival of anatomically modern humans, Neanderthals had adopted several 'transitional' technocomplexes. Two of these, the Uluzzian of southern Europe and the Châtelperronian of western Europe, are key to current interpretations regarding the timing of arrival of anatomically modern humans in the region and their potential interaction with Neanderthal populations. They are also central to current debates regarding the cognitive abilities of Neanderthals and the reasons behind their extinction. However, the actual fossil evidence associated with these assemblages is scant and fragmentary, and recent work has questioned the attribution of the Châtelperronian to Neanderthals on the basis of taphonomic mixing and lithic analysis. Here we reanalyse the deciduous molars from the Grotta del Cavallo (southern Italy), associated with the Uluzzian and originally classified as Neanderthal. Using two independent morphometric methods based on microtomographic data, we show that the Cavallo specimens can be attributed to anatomically modern humans. The secure context of the teeth provides crucial evidence that the makers of the Uluzzian technocomplex were therefore not Neanderthals. In addition, new chronometric data for the Uluzzian layers of Grotta del Cavallo obtained from associated shell beads and included within a Bayesian age model show that the teeth must date to ~45,000-43,000 calendar years before present. The Cavallo human remains are therefore the oldest known European anatomically modern humans, confirming a rapid dispersal of modern humans across the continent before the Aurignacian and the disappearance of Neanderthals.

Brief communication: A morphometric analysis of the neandertal upper second molar Leuca I.

The scarcity of Neandertal remains from Southern Europe hampers our understanding of Neandertal variability, and can bias interpretations about Neandertal geographic variation. To address this issue, it is often important to reassess human remains that, while discovered decades ago, remain relatively unknown to the scientific community. In this contribution, we provide a complete state-of-the-art comparative morphometric analysis of Leuca I, an unworn left second upper molar (LM(2) ) discovered in 1958 in Bambino's Cave (near Santa Maria di Leuca, Apulia, Italy) and attributed to Homo neanderthalensis. Our study includes comparisons of standard metric and nonmetric data, a 2D image analysis of the occlusal surface and measurements of both 2D and 3D enamel thickness and dental tissue proportions. Although Leuca I follows the Neandertal M(2) s trend in some morphometric aspects (i.e., small relative occlusal polygon area), in other cases it falls to the higher end (for 3D average enamel thickness) or even outside (for 3D-relative enamel thickness) the Neandertal M(2) variability, thus increasing the known Neandertal range of variation.

Cervical and crown outline analysis of worn Neanderthal and modern human lower second deciduous molars.

Despite the general increase in digital techniques for dental morphometric analyses, only a few methods are available to study worn teeth. Moreover, permanent dentitions are studied much more frequently than deciduous teeth. In this study, we address both issues by providing a taxonomic classification of Neanderthal and modern human (MH) lower second deciduous molars (dm(2) s) through the analysis of crown and cervical outlines. Crown and cervical outlines were obtained from a three-dimensional (3D) digital sample of uniformly oriented dm(2) s. Both outlines were centered on the centroid of their area and represented by 16 pseudolandmarks obtained by equiangularly spaced radial vectors out of the centroid. We removed size information from the oriented and centered outlines with a uniform scaling of the pseudolandmark configurations to unit Centroid Size. Group shape variation was evaluated separately for the dm(2) crown and cervical outlines through a shape-space principal component (PC) analysis. Finally, quadratic discriminant analysis of a subset of PCs was used to classify the specimens. Our results demonstrate that both outlines successfully separate the two groups. Neanderthals showed a buccodistal expansion and convex lingual outline shape, whilst MHs have buccodistal reduction and straight lingual outline shape. Therefore, we confirmed that the cervical outline represents an effective parameter for distinguishing between the two taxa when dealing with worn or damaged dm(2) s.

Homo neanderthalensis; first documented benign intraosseous tumor in maxillofacial skeleton.

This report deals with the first benign intraosseous tumor of the maxillofacial skeleton ever documented in a species of the Homo genus, to our knowledge. The lower jaw, which belonged to a representative of Homo neanderthalensis, indicated that expansive processes with bone remodeling were already present in ancient times, showing no difference with similar disease patterns found daily in modern Homo sapiens.

Comparison of dental measurement systems for taxonomic assignment of Neanderthal and modern human lower second deciduous molars.

Traditional morphometric approaches for taxonomic assignment of Neanderthal and modern human dental remains are mainly characterized by caliper measurements of tooth crowns. Several studies have recently described differences in dental tissue proportions and enamel thickness between Neanderthal and modern human teeth. At least for the lower second deciduous molar (dm(2)), a three-dimensional lateral relative enamel thickness index has been proposed for separating the two taxa. This index has the advantage over other measurements of being applicable to worn teeth because it ignores the occlusal aspect of the crown. Nevertheless, a comparative evaluation of traditional crown dimensions and lateral dental tissue proportion measurements for taxonomic assignment of Neanderthal and modern human dm(2)s has not yet been performed. In this study, we compare various parameters gathered from the lateral aspects of the crown. These parameters include crown diameters, height of the lateral wall of the crown (lateral crown height = LCH), lateral enamel thickness, and dentine volume of the lateral wall, including the volume of the coronal pulp chamber (lateral dentine plus pulp volume = LDPV), in a 3D digital sample of Neanderthal and modern human dm(2)s to evaluate their utility in separating the two taxa. The LDPV and the LCH allow us to discriminate between Neanderthals and modern humans with 88.5% and 92.3% accuracy, respectively. Though our results confirm that Neanderthal dm(2)s have lower relative enamel thickness (RET) index compared with modern humans (p = 0.005), only 70% of the specimens were correctly classified on the basis of the RET index. We also emphasize that results of the lateral enamel thickness method depend on the magnitude of the interproximal wear. Accordingly, we suggest using the LCH or the LDPV to discriminate between Neanderthal and modern human dm(2)s. These parameters are more independent of interproximal wear and loss of lateral enamel.

A reassessment of the Neanderthal teeth from Taddeo cave (southern Italy).

The Middle Paleolithic fossil human teeth from Taddeo cave in southwestern Italy were discovered in 1967, but to date only scanty and partially incorrect information has been published about them. The teeth were recovered in a reddish sandy layer from the cave's floor, which is attributed either to an early phase of Würm I (OIS 5c or 5d) or a transition phase between Würm I and Würm II (OIS 5a). In this paper, we present a revised morphological description and morphometric comparisons of the four dental remains discovered. Apart from a classic morphometric comparison, we also provide a qualitative and quantitative assessment of the internal morphology with the aid of micro-CT imaging. In addition, virtual restoration and matching of adjacent teeth were performed with 3D digital modeling and Computer-Aided Design techniques. Occlusal Fingerprint Analysis was also employed to help correctly identify each tooth. While in the previous studies, Taddeo 1 was considered either an upper right canine or a lower right canine, in the present work it has been definitely identified as lower left canine. Taddeo 2 has been reclassified as a right P(4) instead of a right P(3). Based on the occlusal and interproximal wear, we have also shown that Taddeo 2 and Taddeo 3 (right M(1)) belong to the same individual. All of the teeth show characteristic Neanderthal features in crown morphology and fissure pattern. However, although Taddeo 4 shows morphological features typical of Neanderthal M(1)s, some morphometric results (large enamel thickness, low dentine volume) recall more modern humans than Neanderthals. This result might suggest that, at least for lower first molars, the Neanderthal range of variation is large and still not clearly understood.

Genealogical discontinuities among Etruscan, Medieval, and contemporary Tuscans.

The available mitochondrial DNA (mtDNA) data do not point to clear genetic relationships between current Tuscans and the Bronze-Age inhabitants of Tuscany, the Etruscans. To understand how and when such a genetic discontinuity may have arisen, we extracted and typed the mtDNAs of 27 medieval Tuscans from an initial sample of 61, spanning a period between the 10th and 15th century AD. We then tested by serial coalescent simulation various models describing the genealogical relationships among past and current inhabitants of Tuscany, the latter including three samples (from Murlo, Volterra, and Casentino) that were recently claimed to be of Etruscan descent. Etruscans and medieval Tuscans share three mitochondrial haplotypes but fall in distinct branches of the mitochondrial genealogy in the only model that proved compatible with the data. Under that model, contemporary people of Tuscany show clear genetic relationships with Medieval people, but not with the Etruscans, along the female lines. No evidence of excess mutation was found in the Etruscan DNAs by a Bayesian test, and so there is no reason to suspect that these results are biased by systematic contamination of the ancient sequences or laboratory artefacts. Extensive demographic changes before AD 1000 are thus the simplest explanation for the differences between the contemporary and the Bronze-Age mtDNAs of Tuscany. Accordingly, genealogical continuity between ancient and modern populations of the same area does not seem a safe general assumption, but rather a hypothesis that, when possible, should be tested using ancient DNA analysis.

A medieval murder.

On rare occasion, the body or skeleton of a murder victim may be discovered hundreds of years, or even millennia, after the crime. The murder of the 5000-year-old Stone Age man, found frozen in the ice of the Italian Alps, being the most recent example. In most of these cases too much time has passed to allow the application of modern forensic technology. We describe here a homicide that occurred between 1310 and 1390. The victim died of a crossbow injury, with a bolt passing between the 2nd and 3rd vertebrae, completely transecting the brainstem. The crossbow was, for more than 2 and one half centuries (1200-1460), the weapon of choice in European armies, and its use would not have been unusual. The choice of weapon, and other features of the crime, makes it possible to arrive at some reasonable conclusions about the circumstances of the death.

A 28,000 years old Cro-Magnon mtDNA sequence differs from all potentially contaminating modern sequences.

BACKGROUND: DNA sequences from ancient specimens may in fact result from undetected contamination of the ancient specimens by modern DNA, and the problem is particularly challenging in studies of human fossils. Doubts on the authenticity of the available sequences have so far hampered genetic comparisons between anatomically archaic (Neandertal) and early modern (Cro-Magnoid) Europeans. METHODOLOGY/PRINCIPAL FINDINGS: We typed the mitochondrial DNA (mtDNA) hypervariable region I in a 28,000 years old Cro-Magnoid individual from the Paglicci cave, in Italy (Paglicci 23) and in all the people who had contact with the sample since its discovery in 2003. The Paglicci 23 sequence, determined through the analysis of 152 clones, is the Cambridge reference sequence, and cannot possibly reflect contamination because it differs from all potentially contaminating modern sequences. CONCLUSIONS/SIGNIFICANCE: The Paglicci 23 individual carried a mtDNA sequence that is still common in Europe, and which radically differs from those of the almost contemporary Neandertals, demonstrating a genealogical continuity across 28,000 years, from Cro-Magnoid to modern Europeans. Because all potential sources of modern DNA contamination are known, the Paglicci 23 sample will offer a unique opportunity to get insight for the first time into the nuclear genes of early modern Europeans.

[A modern example of anthropogenic mummification from Savoca]. / Un esempio Savocese di mummificazione artificiale in età moderna.

The Savoca mummies are probably the best known Sicilian collection of mummified human remains after those from Palermo. The 18th century subterranean chamber located in the Chiesa dei Cappuccini holds several preserved bodies, contained in either wall niches or coffins. A recent detailed inspection allowed the authors to determine that such corpses underwent spontaneous desiccation after being placed in the wall niches situated in the crypt beneath the Cathedral of Savoca. However, one unidentified specimen, belonging to an adult male and tentatively dated to the second half of the 19th century, shows clear signs of an artificial intervention aimed at preventing the decay of the cadaver. In addition, two skulls, located in the columbaria above the wall niches, show craniotomy, indicating that some of the remains were anthropogenically mummified. The case described seems to suggest that the traditional embalming techniques were still in use in the late Modern Era, despite the development of innovative methods of intra-arterial injection.

The origin of European cattle: evidence from modern and ancient DNA.

Cattle domestication from wild aurochsen was among the most important innovations during the Neolithic agricultural revolution. The available genetic and archaeological evidence points to at least two major sites of domestication in India and in the Near East, where zebu and the taurine breeds would have emerged independently. Under this hypothesis, all present-day European breeds would be descended from cattle domesticated in the Near East and subsequently spread during the diffusion of herding and farming lifestyles. We present here previously undescribed genetic evidence in contrast with this view, based on mtDNA sequences from five Italian aurochsen dated between 7,000 and 17,000 years B.P. and >1,000 modern cattle from 51 breeds. Our data are compatible with local domestication events in Europe and support at least some levels of introgression from the aurochs in Italy. The distribution of genetic variation in modern cattle suggest also that different south European breeds were affected by introductions from northern Africa. If so, the European cattle may represent a more variable and valuable genetic resource than previously realized, and previous simple hypotheses regarding the domestication process and the diffusion of selected breeds should be revised.

Evidence for a genetic discontinuity between Neandertals and 24,000-year-old anatomically modern Europeans.

During the late Pleistocene, early anatomically modern humans coexisted in Europe with the anatomically archaic Neandertals for some thousand years. Under the recent variants of the multiregional model of human evolution, modern and archaic forms were different but related populations within a single evolving species, and both have contributed to the gene pool of current humans. Conversely, the Out-of-Africa model considers the transition between Neandertals and anatomically modern humans as the result of a demographic replacement, and hence it predicts a genetic discontinuity between them. Following the most stringent current standards for validation of ancient DNA sequences, we typed the mtDNA hypervariable region I of two anatomically modern Homo sapiens sapiens individuals of the Cro-Magnon type dated at about 23 and 25 thousand years ago. Here we show that the mtDNAs of these individuals fall well within the range of variation of today's humans, but differ sharply from the available sequences of the chronologically closer Neandertals. This discontinuity is difficult to reconcile with the hypothesis that both Neandertals and early anatomically modern humans contributed to the current European gene pool.

The Etruscans: a population-genetic study.

The origins of the Etruscans, a non-Indo-European population of preclassical Italy, are unclear. There is broad agreement that their culture developed locally, but the Etruscans' evolutionary and migrational relationships are largely unknown. In this study, we determined mitochondrial DNA sequences in multiple clones derived from bone samples of 80 Etruscans who lived between the 7th and the 3rd centuries b.c. In the first phase of the study, we eliminated all specimens for which any of nine tests for validation of ancient DNA data raised the suspicion that either degradation or contamination by modern DNA might have occurred. On the basis of data from the remaining 30 individuals, the Etruscans appeared as genetically variable as modern populations. No significant heterogeneity emerged among archaeological sites or time periods, suggesting that different Etruscan communities shared not only a culture but also a mitochondrial gene pool. Genetic distances and sequence comparisons show closer evolutionary relationships with the eastern Mediterranean shores for the Etruscans than for modern Italian populations. All mitochondrial lineages observed among the Etruscans appear typically European or West Asian, but only a few haplotypes were found to have an exact match in a modern mitochondrial database, raising new questions about the Etruscans' fate after their assimilation into the Roman state.