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The biological life history of infants from archaeological contexts can provide a unique insight into past human populations. Dental mineralized tissues contain a permanent record of their growth that can provide access to the prenatal and early infant life, and mortality, of human skeletons. This study focuses on the histomorphometric analysis of deciduous teeth from the ‘Archaic Necropolis’ of Motya (7th–6th century BCE, Sicily–Italy). The histomorphometric analysis is conducted on prenatal and postnatal enamel of eight anterior deciduous teeth from seven individuals from this Phoenician population to estimate their chronological age-at-death, health, and enamel growth parameters. Proteomic analysis has been used to determine the sex of the infants. The presence of the Neonatal Line in all specimens indicates that the seven individuals survived birth. The occurrence of at least one Accentuated Line in prenatal enamel in four out of seven individuals suggests the foetuses and/or their mothers experienced a stress-related event during pregnancy. As expected, there was limited variation in Daily Secretion Rates near the Enamel Dentine Junction. These rates increase toward the outer enamel surface and decrease toward the cervix. Our findings illustrate the importance of dental histology for reconstructing perinatal and early infancy mortality and morbidity patterns at Motya, which sheds light on the socio-cultural perception of new-borns and infants in an ancient Phoenician community.

Objectives: The developmental origins of health and disease (DOHaD) hypothesis describes how early childhood stress affects morbidity and mortality later in life. The role of early childhood stress in mortality from infectious disease is understudied. Stressors in early childhood that weaken the immune system may result in increased susceptibility to infectious disease in adulthood. Weaning is one of the earliest potential periods of significant stress in early childhood. This research investigates the effect of weaning after ~6months of age on cholera mortality among 18th-19th-century Italian populations by determining if earlier breastfeeding cessation is associated with earlier mortality, analyzing childhood dietary variation and physiological stress markers, and determining if age-at-weaning completion differs between catastrophic and attritional populations. Methods: Serial dentin stable carbon and nitrogen isotope analyses from canines are compared between catastrophic (n=45) and attritional groups (n=23). Canines are sectioned serially from crown to apex, and the increment's δ15 N and δ13 C are used to estimate age-at-weaning completion. Results: Catastrophic and attritional groups exhibit similar age-at-weaning completion (~2.8 years). Seventy-four percent of individuals lack elevated δ15 N values in dentin that formed during infancy. Conclusions: Age-at-weaning completion was not a predisposing factor in cholera mortality in adulthood in this sample. Age-at-weaning completion may not be significantly associated with infectious disease mortality because weaning completion likely occurred after infants had adapted to consuming contaminated weanling foods. Individuals without detectable weaning curves may represent infants who received supplementary foods since birth or were weaned before the age of 6-9months.

Description of the Second Stop in The Excursion at the SanTeodoro Cave

Interpreting depositional settings of cave sites is generally problematic, especially in absence of palaeontological/archaeological evidence. This is the case of some deposits at San Teodoro Cave (Sicily), a key site for the Mediterranean Palaeolithic. In a stratigraphic level interrupted by a carbonatic concretion, phosphatic nodules are present only in the part enclosed between the concretion and the cave wall. The discovery of these nodules combined with the punctual lack of fossils had initially suggested an erosion phenomenon and subsequent formation of nodules at a vadose level. Here we show the usefulness of an integrated, geochemical-palaeoecological approach in defining stratigraphy and palaeoenvironmental reconstructions. XRD, ICP-OES, ATR-FTIR and EDS analyses allowed the formulation of a new hypothesis regarding the origin of the nodules, the depositional dynamics, and the role played by the guano produced by an extensive colony of bats. The role of barium and rubidium in detecting taphonomical processes has been highlighted.

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., D.M.F. was supported by an Irish Research Council grant GOIPG/2013/36. Radiocarbon work was supported in part by the NSF Archaeometry program BCS-1460369 (to D.J.K. and B.J.C). C.L.-F. was supported by Obra Social La Caixa and by FEDER-MINECO (BFU2015-64699-P and PGC2018-095931-B-100). D.C. was supported by grant 20177PJ9XF MIUR PRIN 2017. D.Reich is an Investigator of the Howard Hughes Medical Institute, and his ancient-DNA laboratory work was supported by National Science Foundation HOMINID grant BCS-1032255, a National Institutes of Health grant GM100233, an Allen Discovery Center grant, and grant no. 61220 from the John Templeton Foundation.

The Mediterranean islands and their population history are of considerable importance to the interpretation of the population history of Europe as a whole. In this context, Sicily, because of its geographic position, represents a bridge between Africa, the Near East, and Europe that led to the stratification of settlements and admixture events. The genetic analysis of extant and ancient human samples has tried to reconstruct the population dynamics associated with the cultural and demographic changes that took place during the prehistory and history of Sicily. In turn, genetic, demographic and cultural changes need to be understood in the context of the environmental changes that took place over the Holocene. Based on this framework, this paper aims to discuss the cultural and demographic dimension of the island by reviewing archaeogenetic studies, and lastly, we discuss the ecological constraints related to human peopling in times of change in landscapes that occurred on the island in various periods. Finally, possible directions for future archaeogenetic studies of Sicily are discussed. Despite its long human history, Sicily is still one of the world’s biodiversity hotspots. The lessons we learn from the past use of landscape provide models for sustainable future management of the Mediterranean’s landscapes.

In two publications from 1967 and 1971, M. Masali described human skeletal remains presumed to have been found in the Balzi Rossi caves (Ventimiglia, Italy), based on a signed note dated to 1908. Since then, the remains - dubbed "Conio's Finds" and preserved at the University of Torino - had not been further studied. We performed a multidisciplinary investigation aimed at clarifying the geographical and chronological attribution of these specimens. Collagen extraction for AMS dating was unsuccessful, but we obtained two direct dates on the best- preserved crania via 231Pa/235U direct gamma-ray spectrometry (10,500±2,000 years BP and 12,500±2,500 years BP). We analyzed the metrics and morphology of the crania and femora by comparing them with samples belonging to the Upper Paleolithic, Mesolithic, and Neolithic periods, and evidenced that the "Conio's Finds" are morphologically more compatible with a Late Pleistocene rather than Holocene attribution. We analyzed the literature regarding the history of excavations at Balzi Rossi, and we propose that - if any credence should be given to the note accompanying the material - the remains may have been found in front of Grotta dei Fanciulli or Grotta del Caviglione, in the redeposited soil dug up during the installation of lime kilns carried out between the late 18th and the early 19th centuries. These hypotheses may be tested in the future by comparing the speleothem deposited on one of the crania and the remaining deposit at the site.

The prehistoric peopling of Sicily has left scattered traces of symbolic activities through well-known rock art expressions in caves and rock shelters located all around the island (among the most significant, the sites of Addaura, Racchio and Genovese). A peculiar phenomenon is the incision of linear signs, often grouped on the same rocky walls, hidden in fissures or placed at the entrance of the underground chambers of caves. In this report, we investigate a sample of these graphic expressions from a spatial and technical point of view. A GIS-based approach presents the territorial pattern providing insight, on a macroscale, into the intentional positioning of the sign complexes. A 3D model of the rock panels, coupled with the spatial analysis performed in a GIS environment, is presented here as a research protocol to ascertain and comprehend the physical gestures involved in the production.

Scenarios for the dispersal of Homo sapiens in Southern Europe and in the Mediterranean basin have been uncertain, given the scarceness of osteological samples and the simplicity of the proposed archaeologically-based settlement hypotheses. According to available data, the first anatomically modern humans entered Sicily during the Late Pleistocene, coming from the Italian peninsula. A presumably small Late Epigravettian population colonised coastal sites. Later, North-Western archaeological horizons gave hospitality to a significant Mesolithic expansion. In order to verify a hypothesis of continuity in the peopling of the island, we analyzed Sicilian skulls from the Late Epigravettian site of San Teodoro, Eastern Sicily (AMS 14C dated at 14,500 BP) and from the Mesolithic period (14C dated from 9,500 to 8,500 BP) coming from various sites (Uzzo, Molara, Grotta d'Oriente) located on the North Western coast of the island. The aims were to test the biological variability through time within the island as well as to evaluate the relationships of Sicilian Pleistocene hunter-gatherers with Old World populations. We also evaluated the Sicilian Mesolithic uniformity especially between the Uzzo and Grotta d'Oriente sites, given their vicinity and accessibility during the Early Holocene. We applied 3D geometric morphometric methods to assess shape variation as well as geographic and diachronic morphological patterns. All analyzed specimens, plus a comparative sample from the Old World dated from the Upper Paleolithic to recent periods, were transformed in digital images and standard craniofacial landmarks were extracted from the 3D models. Our results underline a high variability among the Mesolithic specimens, as well as a large craniometric distance from the presumed founder Paleolithic settler representatives (San Teodoro specimens) that have closer morphological affinities with other European Upper Paleolithic specimens.

This paper deals with a monument that is, up to this date, unique in Sicily and in the Italian peninsula: the Mycenaean-type tholos tomb of the Gazzi necropolis in Messina. A recent excavation in the alluvial deposits revealed extensive traces of a funerary area with a tholos tomb and several enchytrismos tombs with skeletal remains, presumably dated back to the end of the Early or the initial stage of the Middle(?) Bronze Age. The present multi-disciplinary investigation has been developed to analyse new data related to sediments, building stones and skeletal remains of this funerary area. The stratigraphic succession hosting the necropolis was formed by overbank sediments deposited on the alluvial floodplain of the Gazzi palaeostream and developed during a regressive trend. The tholos building stones were opportunely selected and distributed in the different sectors of the tomb. The crystalline building stones are unworked stones derived from the alluvial pebbles of the palaeostream, whereas the worked stones are derived from local quarries of limestones located in the surrounding hills. The osteological remains are ascribable exclusively to Homo. The minimum number of individuals inside the tholos was calculated to consist of one adult, whereas one adult and one infant were found in the enchytrismos burials. The Gazzi necropolis discovery demonstrates the important role played by the Messina settlements during the Bronze Age, when relationships between the Aegean and Western world became closer.

Equus hydruntinus was a small equid that ranged from the Iberian Peninsula to Middle East. In Italy it has been considered present from the Middle Pleistocene to its extinction in the Middle-Late Holocene. E. hydruntinus shares plesiomorphic traits with other known Pleistocene equids. As a consequence, its classification has always been problematic. Genetic analyses on few fossil remains from Iran and Crimea have revealed that E. hydruntinus was more closely related to extant hemiones. To further investigate its systematic position, using target-enrichment capture and next-generation sequencing, we reconstructed a near complete mitogenome of a specimen from San Teodoro Cave from Sicily radiocarbon dated at 23-21 ka cal. BP. Comparisons with extant and extinct equids demonstrate close relationship between this specimen and the Asian wild asses, supporting previous genetic and morphological studies. Furthermore, our findings confirm the occurrence of E. hydruntinus species in Sicily, that presumably might have represented a typical glacial refugium during the LGM.

Grotta d’Oriente, a coastal cave located on the island of Favignana (Sicily, Italy) is a key site for the study of the early human colonization of Sicily. Inside the cave, during different field excavations, three burials attributable to the Late Upper Palaeolithic and Mesolithic were found. The Mesolithic Oriente B individual, directly dated at 9,377 ± 25 uncal BP, was previously assigned to HV1 haplogroup using a traditional approach. However, it is well known that PCR based methods are prone to erroneous haplotype or haplogroup determination. In order to redefine the mitochondrial lineage of this Mesolithic hunter-gatherer and explore its phylogenetic position, we target-enriched and sequenced the complete mitochondrial genome of Oriente B. Moreover, we conducted a morphometric analysis to assess its phenetic affinities. Oriente B individual was classified into U2′3′4′7′8′9 haplogroup. In Sicily, this lineage has also been found on the Upper Palaeolithic Oriente C and Early Mesolithic individuals from Grotta dell’Uzzo. Our results show significant genetic and morphological similarities in Sicilian Early Mesolithic hunter-gatherers, presumably because of genetic drift processes. Furthermore, dating the emergence of the “Sicilian clade”, we speculate that Epigravettian hunter-gatherers carrying U2′3′4′7′8′9 haplogroup might be the first settlers of Sicily arrived from the Italian peninsula by the crossing of a temporary land-bridge around the Last Glacial Maximum.

In the Cercopithecini ancestor two chromosomes, homologous to human chromosomes 20 and 21, fused to form the Cercopithecini specific 20/21 association. In some individuals from the genus Cercopithecus, this association was shown to be polymorphic for the position of the centromere, suggesting centromere repositioning events. We set out to test this hypothesis by defining the evolutionary history of the 20/21 association in four Cercopithecini species from three different genera. The marker order of the various 20/21 associations was established using molecular cytogenetic techniques, including an array of more than 100 BACs. We discovered that five different forms of the 20/21 association were present in the four studied Cercopithecini species. Remarkably, in the two Cercopithecus species, we found individuals in which one homolog conserved the ancestral condition, but the other homolog was highly rearranged. The phylogenetic analysis showed that the heterozygosity in these two species originated about 8 million years ago and was maintained for this entire arc of time, surviving multiple speciation events. Our report is a remarkable extension of Dobzhansky's pioneering observation in Drosophila concerning the maintenance of chromosomal heterozygosity due to selective advantage. Dobzhansky's hypothesis recently received strong support in a series of detailed reports on the fruit fly genome. Our findings are first extension to primates, indeed to Old World monkeys phylogenetically close to humans of an analogous situation. Our results have important implications for hypotheses on how chromosome rearrangements, selection, and speciation are related.

Farming was first introduced to southeastern Europe in the mid-7th millennium BCE - brought by migrants from Anatolia who settled in the region before spreading throughout Europe. However, the dynamics of the interaction between the first farmers and the indigenous hunter-gatherers remain poorly understood because of the near absence of ancient DNA from the region. We report new genome-wide ancient DNA data from 204 individuals-65 Paleolithic and Mesolithic, 93 Neolithic, and 46 Copper, Bronze and Iron Age-who lived in southeastern Europe and surrounding regions between about 12,000 and 500 BCE. We document that the hunter-gatherer populations of southeastern Europe, the Baltic, and the North Pontic Steppe were distinctive from those of western Europe, with a West-East cline of ancestry. We show that the people who brought farming to Europe were not part of a single population, as early farmers from southern Greece are not descended from the Neolithic population of northwestern Anatolia that was ancestral to all other European farmers. The ancestors of the first farmers of northern and western Europe passed through southeastern Europe with limited admixture with local hunter-gatherers, but we show that some groups that remained in the region mixed extensively with local hunter-gatherers, with relatively sex-balanced admixture compared to the male-biased hunter-gatherer admixture that we show prevailed later in the North and West. After the spread of farming, southeastern Europe continued to be a nexus between East and West, with intermittent steppe ancestry, including in individuals from the Varna I cemetery and associated with the Cucuteni-Trypillian archaeological complex, up to 2,000 years before the Steppe migration that replaced much of northern Europe9s population.

The bioarchaeological and forensic approach is increasingly applied in the study of funerary contexts in archaeology. Here, we present a case of an atypical medieval burial recently discovered in Piazza Armerina (Sicily), in which the integrated use of traditional bioarchaeological and forensic anthropology methods was crucial. The skeleton was lying in a prone position and was characterised by a peculiar injury pattern. We recorded six clear stab wound marks on the posterior surface of the sternum. The use of computerised tomography scan and 3D modelling techniques has made it possible to obtain a reliable reconstruction of the cause and modality of death, pointing to the execution of the individual. The importance of this case study is twofold. First, the injury pattern recorded currently constitutes a unicum in the bioarchaeological record. Second, it represents the first well‐documented case of an atypical burial in Sicily.

To localize interstitial telomeric sequences (ITSs) and to test whether their pattern of distribution could be linked to chromosomal evolution, we hybridized telomeric sequence probes (peptide nucleic acid, PNA) on metaphases of New World monkeys: Callithrix argentata, Callithrix jacchus, Cebuella pygmaea, Saguinus oedipus, Saimiri sciureus, Aotus lemurinus griseimembra, Aotus nancymaae (Cebidae), Lagothrix lagotricha (Atelidae) and Callicebus moloch (Pithecidae), characterized by a rapid radiation and a high rate of chromosomal rearrangements. Our analysis of the probe signal localization allowed us to show in all the species analysed, as normally, the telomeric location at the terminal ends of chromosomes and unexpected signal distributions in some species. Indeed, in three species among the nine studied, Aotus lemurinus griseimembra, Aotus nancymaae (Cebidae) and Lagothrix lagotricha (Atelidae), we showed a high variability in terms of localization and degree of amplification of interstitial telomeric sequences, especially for the ones found at centromeric or pericentromeric positions (het-ITS). A comparative analysis, between species, of homologous chromosomes to human syntenies, on which we have found positive interspersed PNA signals, allowed us to explain the observed pattern of ITS distribution as results of chromosomal rearrangements in the neotropical primates analysed. This evidence permitted us to discuss the possible implication of ITSs as phylogenetic markers for closely related species. Moreover, reviewing previous literature data of ITSs distribution in Primates and in the light of our results, we suggest an underestimation of ITSs and highlight the importance of the molecular cytogenetics approach in characterizing ITSs, which role is still not clarified. Riassunto La distribuzione delle sequenze telomeriche intersperse sui cromosomi di nove Platyrrhinae: possibili implicazioni evolutive e filogenetiche Al fine di localizzare le sequence telomeriche intersperse (ITS) e verificare se il loro pattern di distribuzione e ricollegabile all'evoluzione cromosomica sono state ibridate sonde telomeriche (TTAGGG)n sulle metafasi di specie Platyrrhinae caratterizzate da una rapida radiazione ed da un alto tasso di riarrangiamenti cromosomomici: Callithrix argentata, Callithrix jacchus, Cebuella pygmaea, Saguinus oedipus, Saimiri sciureus, Aotus lemurinus griseimembra, Aotus nancymaae (Cebidae), Lagothrix lagotricha (Atelidae), e Callicebus moloch (Pithecidae). L'analisi del segnale della sonda PNA mappato sui cromosomi ha permesso di dimostrare, in tutte le specie, come atteso, la normale localizzazione delle sequenze telomeriche sulle estremita terminali dei cromosomi e solo su alcune di esse, invece, una distribuzione peculiare delle sequenze telomeriche intersperse. Infatti in tre specie tra le nove analizzate Aotus lemurinus griseimembra, Aotus nancymaae (Cebidae), e Lagothrix lagotricha (Atelidae) e stata dimostrata un'alta variabilita nella distribuzione e nel grado di amplificazione delle ITS, in special modo per quelle riscontrate in regioni centro o pericentromeriche (het-ITS). L'analisi comparativa dei cromosomi delle specie in esame, omologhi alle sintenie cromosomiche umane, sui quali si sono riscontrati segnali della sonda PNA interspersi, ha permesso di spiegare il pattern di distribuzione delle ITS osservato come risultato di riarrangiamenti cromosomici verificatesi nel corso dell'evoluzione in Primates, in particolar modo in Platyrrhinae. Queste evidenze hanno inoltre permesso di discutere le possibili implicazioni delle ITS come marker filogenetici. In ultimo, da un'analisi dei dati presenti in letteratura sulla distribuzione delle ITS in Primates ed alla luce dei risultati ottenuti si ipotizza che gli ITS possano essere stati sottostimati e si evidenzia l'importanza dell'approccio citogenetico nello studio degli ITS, sequenze il cui ruolo e ancora poco conosciuto e che meriterebbe maggiori approfondimenti.

A survey of opportunistic biocenosis (macro and micro organisms) associated with a rest of human mummy samples was carried out to characterise the biocenosis and to detect the potential of biodeteriogens. The rests of the human modern mummies come from a hypogeic site. Since mummies are relevant from a historic-artistic-scientific point of view, an aspect of this study was the identification and characterization of the biological systems related with biodeterioration of organic matter. In a first step, different sampling methods, according to the taxa, were applied. Technological procedures were combined in order to have an interdisciplinary approach to the conservation actions for testing future restoration protocols. Specimens were collected, identified and characterized by Microscopy (light, SEM, CLSM) and molecular analyses (DNA extraction, in vitro target sequence amplification, sequencing, sequence analysis). The results highlight a rather complex biocenonsis consisting of fungi, cyanobacteria, several insects and other arthropods.

Encephalopathy in sheep was at first described in Ireland in 1732 and was called scrapie. Ancient DNA in archaeogenetics represents an effective method to evaluate the ancestral pedigree of living animals and track evolutionary changes occurred between the past and the present day. Since several point mutations are today widely described in modern scrapie, no data about both sequence and frequency are still available for the prion protein (PrP) gene in ancient breeds. In order to evaluate whether the haplotypes distribution in ancient sheep differed from those of the modern population we evaluated polymorphism at four well know codons of the Prp Open Reading Frame. In the present work, we collected 37 medieval sheep bone remains found at the Calathamet (n = 11), Palazzo Bonagia (n = 12) and Palazzo Steri (n = 14) Sicilians archeological sites and dated back between 9th - 15th century. Single nucleotide polymorphisms (SNPs) at codons 136, 141, 154 and 171 of the prion protein (PrP) were investigated using cycle sequencing. Sequenom Mass ARRAYiPLEX platform confirmed the results for 5 individuals out of 37. Cycle sequencing showed at all samples the AA136LL141RR154QQ171 (hereafter ALRQ/ALRQ) genotype except at 2 individuals showing the very susceptible genotype VLRQ/VLRQ (n = 1) and the resistant (ALRR/ ALRR) (n = 1) respectively. Supported by a high incidence of susceptible genotype to prion infection we concluded that presumably scrapie was already widespread enough in the medieval Sicily. Moreover, we described conceivable scenarios that could have underlain evolutionary changes in the medieval sheep population.

Les cercopithecinés sont un groupe de singes africains qui se compose d'environ 36 espèces actuelles avec une évolution et une phylogénie très difficile à reconstruire. L’approche classique tend à proposer de diviser le groupe en question en deux catégories : strictement arboricoles et terrestres. Au cours de cette présentation, nous analyserons de façon critique les différentes reconstructions phylogénétiques proposées aujourd’hui tout en conduisant une analyse sur la base des aspects moléculaires, chromosomiques et écologiques des espèces incluses dans le "groupe d'espèces" actuellement reconnues. Cette approche multidisciplinaire inclut la morphologie, l'écologie régionale ainsi que les résultats des recherches conduites dans les zones géographiques d’origine et démontre l'incohérence et l’insuffisance du point de vue traditionnel.

Comparative cytogenetic data concerning the orthologue to human chromosome 4 in primates shows that this chromosome is conserved between humans and non-human primates. However, the degree of conservation is not as high as previously estimated. In primates it is as a rule a large submetacentric chromosome but many exceptions are known especially in taxa characterized by a high level of chromosomal rearrangements. The rearrangements that have been visualized by chromosome painting so far, which are mostly interchromosomal changes, are in fact only a fraction of the actual chromosomal changes that have occurred during evolution. Intrachromosome changes can be analysed through classical cytogenetic approach or by mapping sub-chromosomal specific probes. In order to study human synteny 4 evolution we mapped diverse subchromosomal specific probes on chromosomes of representative species of the main primate taxa, with the aim to verify markers order conservation along the orthologues to human chromosome 4, allowing us the detection of possible intra-chromosomal rearrangements. The mapping of these probes permitted us to test previous cytogenetic hypothesis on human synteny 4 evolution, and to show marker order conservation between orthologues to human synteny 4 in Catarrhini and Platyrrhini, but with a different position of the centromeres. This data permitted us to hypothesize the occurrence of a new centromere evolution in one of the two lineages. Moreover we analysed literature data regarding HSA4 homologous in primates with particular attention to Platyrrhini, allowing us the reconstruction of the changes that synteny 4 has undergone during evolution. Lastly we highlight the value of the subchromosomal specific probes mapping approach in the detection of intrachromosomal rearrangements that can be crucial for a more refined comparative mapping and for phylogenetic reconstruction.

Vallone Inferno rock-shelter is an archaeological site located in the Madonie mountain range in Sicily. Archaeological excavation and research have provided a long prehistoric and historic sequence from the Neolithic to the medieval period, this being the most complete work in this area at present. In this paper we present the preliminary data provided by a multidisciplinary study based on pottery, lithic, human, faunal and plant remains. Stratigraphic studies have identified four complexes, of which complex 3 has provided almost all the archaeological remains. 14C AMS dates, obtained from four samples, place the human activities between 2601 cal BC and 644 cal AD. These dates are coherent with the cultural attribution of the ceramic and lithic remains. Macrofaunal and plant remains show a persistent use of the shelter for pastoral activities. Environmental data, obtained from microvertebrate and archaeobotanical remains, show the aridification and opening of the landscape from the base to the top of the sequence as a consequence of the human impact. © 2012 Académie des sciences. Published by Elsevier Masson SAS. All rights reserved.

One of the major topics in primate evolution is the phylogenetic position of the bizarre Daubentonia madagascariensis (DMA, aye-aye). The principal points that have been discussed for many decades are whether the aye-aye is: (i) the sister group of primates; (ii) the sister group of strepsirhines; or (iii) the sister group of lemurs. Very little is known about Daubentonia evolution, particularly on the chromosomal background. The present report focuses on the chromosomal history of this species. We used available chromosome painting data as the main source to identify conserved chromosomes, chromosomal segments and syntenic associations that have characterized the aye-aye karyotype. The dataset includes 47 characters that have been subjected to a concatenated analysis using maximum parsimony (MP) and Bayesian inference (BI). Both MP and BI topologies show Daubentonia as an independent monophyletic lineage, sister group of all other Strepsirhini. Further, both trees have weak statistical support as result of the high number of autapomorphies and homoplasies that have characterized the history of this group of species

The subsistence of hunter-gatherers in the Mediterranean Basin has been the object of few studies, which have not fully clarified the role of aquatic resources in their diets. Here we present the results of AMS radiocarbon dating and of isotope analyses on the earliest directly-dated human remains from Sicily, the largest island in the Mediterranean Sea. The radiocarbon determinations show that the Upper Palaeolithic (Epigravettian) humans from Grotta di San Teodoro (15 232–14 126 cal. BP) and Grotta Addaura Caprara (16 060–15 007 cal. BP) date to the Late-glacial and were possibly contemporary. The diets of these individuals were dominated by the protein of large terrestrial mammalian herbivores, such as red deer ( Cervus elaphus ). There is no evidence for the consumption of marine resources, which is probably the result not only of the oligotrophic nature of the Mediterranean, but also perhaps of the lack of adequate technology for exploiting intensively the resources from this sea. In spite of being contemporaneous and of the cultural and technological affinities present between the San Teodoro and Addaura humans, the carbon (δ 13 C) and nitrogen (δ 15 N) isotope composition of their bone collagen suggests that significant differences were present in their diets. In particular, the hunter-gatherers from Grotta di San Teodoro, in NE Sicily where coastal plains are backed by high mountain chains (Monti Nebrodi), probably had easy access to resources such as anadromous brown trout ( Salmo trutta ), which might not have been similarly available in the NW of the island, where reliefs are noticeably lower and watercourses fewer and farther between. This study shows that the high biodiversity of this region, which results from the complex topography of Mediterranean landscapes, was probably exploited opportunistically by Late-glacial foragers. Our data also suggest that intensification and diversification of food acquisition in Sicily did not start in the closing stages of the late Pleistocene, as in other Mediterranean regions, probably because the island had only been (re-)colonized by humans around the Last Glacial Maximum.

This work focuses on the evolution of the architecture of human chromosome 4 (HSA4) through the analysis of chromosomal regions that have been conserved over time, and the comparison of regions that have been involved in different rearrangements in placental lineages. As with most elements of the human genome, HSA4 is considered to be evolutionarily stable. A more detailed analysis indicates that the syntenic association has been reshuffled by a series of rearrangements, yielding different chromosomes in various taxa. In its ancestral eutherian state, HSA4 has a syntenic association with HSA8p. We investigated the complex origin of this human chromosome using three different approaches, including: the analysis of chromosome painting features among 157 mammalian species gleaned from published data; the analysis of conserved syntenic orthologous blocks derived from the Ensembl dataset (www.ensembl.org); and the reconstruction of the orthologues of HSA4 in various species, using a maximum parsimony ...

We present a thorough review of the knowledge on the climate and environment in Sicily over the last 20 000 years, taking into account results of several studies carried using terrestrial and marine records. We obtain a coherent framework of the most important changes succeeded in the island, even if some points need further investigation. All the reconstructions of surface temperatures of the seas and the air surrounding Sicily point out severe climatic conditions during the last glacial period. The steppe- and semisteppe-like vegetation pattern testifies, together with additional evidence from geochemical data of lacustrine evidence, markedly arid conditions. Fi-nally, significant episodes of sea level drop connected Sicily to the Italian Peninsula and favoured the dispersion of faunal elements from southern Italy. The transition between the last glacial and the Holocene was not characterized by a gradual warming but was punctuated by two abrupt suborbital climatic fluctuations: Bølling-Allerød (warm) and Younger Dryas (cold), as recognized in the sediments recovered close to the northern and southern coast of Sicily. A denser arboreal cover is possibly indicated by the occurrence of dormouse and Arvicola remains. Finally the sensitivity of Sicily to climate perturbations is demonstrated by the occurrence of repeated subtle climatic anomalies during the Holocene, including the Little Ice Age, also known from historical chronicles. Forests, woods and Mediterranean maquis developed in the early-middle Holocene. Thereafter was a general decline of arboreal vegetation, following a general aridification trend that seems to be a common feature in southern Europe and North Africa. Science Greek colonization (7th century before Christ), the landscape was intensively modelled for agriculture and breeding, leading to a significant loss of vegetation cover.

Late Pleistocene human evolution in Sicily: comparative morphometric analysis of Grotta di San Teodoro craniofacial remains. D'Amore G, Di Marco S, Tartarelli G, Bigazzi R, Sineo L. Source Laboratorio di Archeoantropologia, Soprintendenza per i Beni Archeologici della Toscana, Via dei Rossi 26/A, 50018 Scandicci, Firenze, Italy. Abstract The paleoanthropological remains from Grotta di San Teodoro near Acquedolci (province of Messina, Italy) represent the oldest and largest skeletal collection yet found documenting human settlement of Sicily. The sample, attributed to the Late Epigravettian (between 14,000 and 10,000 years B.P.), consists of seven variously complete adult individuals (San Teodoro 1-7). We compare the cranial sample to an array of both prehistoric and recent samples using multivariate techniques including D(2) distance analysis, canonical variate analysis, cluster analysis, and multidimensional scaling. Overall, the San Teodoro cranial sample displays a morphometric pattern close to Western European groups of similar antiquity, in particular those from Central and Southern Italy. The morphometric affinities indicate that these people probably came from peninsular Italy by sea during the Late Epigravettian epoch. An alternative hypothesis is that they descended from immigrants that arrived by land during a low sea level episode corresponding to the maximum Würmian regression, about 18,000 years B.P, with gene flow accounting for the morphological homogeneity with the populations of peninsular Italy. The San Teodoro skeletal sample provides the first reliable evidence for human settlement of Sicily. PMID: 19446307 [PubMed - indexed for MEDLINE]

Human chromosome 7 has a complex syntenic origin. It was divided into two segments in both the ancestral primate karyotype and in Platyrrhini. Apparently, a small segment in the ancestral platyrrhine karyotype was associated with HSA5 and the remainder formed a middle-sized submetacentric. We tested the dynamics of platyrrhine chromosomes by hybridizing the locus specific Willams-Beuren probe (7q 11.23, 450 kb) to chromosomes of representative species from the three families of the New World monkeys recently proposed by molecular genomics: Cebidae, Callithrix argentata (bare ear marmoset or silvery marmoset, 2n = 44); Pitheciidae, Callicebus cupreus [red titi monkey, or coppery monkey, 2n = 46)] and Atelidae, Alouatta caraya (black and gold howler, 2n = 52). In both the marmoset and the howler monkeys, the signal was found on the small segment of chromosome 7 associated with human chromosome 5, but not in Callicebus cupreus. Instead, the Williams-Beuren syndrome (WS) signal was found on a C. cupreus chromosome previously reported to be hybridized only by human chromosome 1. The WS probe indicates a small, but complex translocation never described before. Our results point out that fluorescence in situ hybridization (FISH) with locus specific probes and cloned DNA fragments such as bacterial aftificial chromosomes (BACs) provides higher resolution than FISH with whole chromosomes paints. It may be well that the variability seen in the hybridization patterns and revealed by the WS FISH in this report is as a result of a rearrangement ‘hot spot’. The WS region in humans is composed of region-specific different blocks of complex segmental duplications that probably promote the extraordinary rate of evolutionary dynamics of this region among primate species, and which continues to be reflected today by the predisposition of this region to disease syndromes such as WS. The evolutionary history of this region also suggests that repeat families in this region had their origin in a common ancestor of both Old World and New World monkeys. Resumen El mapeo de la Sonda Williams-Beuren Sobre Callithrix Argentata, Callicebus Cupreus y Alouatta Caraya Revela un Diferente Pattern de Los Desplazamientos Genomicos en Los Monos del Nuevo Mundo La tecnica del Mapeo de la sonda Williams-Beuren sobre Callithrix argentata, Callicebus cupreus y Alouatta caraya revela un diferente ‘pattern’ de los desplazamientos genomicos en los Monos del Nuevo Mundo El cromosoma humano 7 tiene un origen syntenico complejo. En el cariotipo ancestral de los Primates y en Platyrrhini viventes se encontra en dos segmentos; el pequeno en Platyrrhine se asocia al cromosoma humano 5 y el resto forma un cromosoma submetacentrico de tamano mediano. Se ha probado la dinamica de los cromosomas de los Monos del Nuevo Mundo ibridando la sonda especifica de William-Beuren (7q 11.23, 450 kb) sobre los cromosomas de algunas especies representativas de las tres familias Platyrrhini: Cebidae, Callithrix argentata (2n = 44); Pitheciidae, Callicebus cupreus (Groves 1992, 2n = 46), y Atelidae, Alouatta caraya (2n = 52). Esta clasificacion ha sido propuesta recientemente a traves de la realizacion de estudios de genetica molecular. En todas las especies analizadas la senal se ha encontrado en el segmento pequeno del cromosoma 7 que esta asociado al cromosoma humano 5, excepto en el Callicebus cupreus, en la cual, la senal de la sonda William-Beuren ha sido encontrada en otro cromosoma distinto que se ibrida normalmente con el cromosoma humano 1. La sonda William-Beuren indica, por lo tanto, un desplazamiento pequeno, pero complejo, nunca descrito antes. Estos resultados revelan que la tecnica de mapeo locus especifica tiene una resolucion mayor que la FISH hecha con las sondas ‘painting’. Los cambios genomicos que se han podido observar gracias a la tecnica FISH se pueden explicar teniendo en cuenta la existencia de puntos calientes –‘hotspot’ en el genoma. La region de la sonda William-Beuren en el cromosoma 7 humano esta formada por distintos bloques complejos de segmentos de duplicacion que son con probabilidad responsables de este elevado grado de dinamismo evolutivo entre especies de primates; predisposition que en esta region se refleja hoy en el sindrome William-Beuren. Por ultimo, la historia evolutiva de esta region sugiere que los bloques de duplication tengon su origen en un antepasado comun a los Monos del Viejo Mundo y de Nuevo Mundo.

Human chromosome 7 (HSA7) derives, by a pericentric inversion and a paracentric inversion, from an ancestral chromosome homologous to chromosome 10 of Pongo pygmaeus (the Asiatic Orang-Utan). Nevertheless the genesis of this autosome during primates evolution is not clear. Even if chromosome painting shows that HAS 7 synteny is highly conserved, GTG-banding comparison in Hominoidea and Cercopithecoidea indicates the probable occurrence of complex rearrangements during the evolution. In this study we used a single locus FISH approach, a powerful tool to detect fine rearrangements, in order to investigate the evolution of HAS 7. We report the chromosome mapping of Williams-Beuren syndrome locus (WS - HSA 7q11.23) on Macaca fascicularis (MFA), Cercopithecus (Chlorocebus) aethiops (CAE) and Trachypithecus cristatus (TCR) (Cercopithecoidea, Primates). The probe hybridises on all species tested and demonstrates the occurrence of rearrangements like fusion, fission and pericentric plus paracentric inversions respectively in MFA, CAE and TCR. Together with the first chromosome mapping of WS locus in Cercopithecoidea, this study confirms that single locus mapping is a very efficacious tool for the analysis of chromosomal rearrangements as it gave the opportunity to have a fine molecular confirmation to proposed banding patterns homologies.

Recently a heterozygote advantage was suggested to explain the high incidence (1:25 carrier individuals in Europeans) of the cystic fibrosis gene. This selective advantage was speculated to be due to a high resistance to chloride-secreting diarrhea, including cholera. Up to now the major efforts to test directly this hypothesis have been limited to animal models.

International audience; Abstract Background The aurochs ( Bos primigenius ) was a large bovine that ranged over almost the entirety of the Eurasian continent and North Africa. It is the wild ancestor of the modern cattle ( Bos taurus ), and went extinct in 1627 probably as a consequence of human hunting and the progressive reduction of its habitat. To investigate in detail the genetic history of this species and to compare the population dynamics in different European areas, we analysed Bos primigenius remains from various sites across Italy. Results Fourteen samples provided ancient DNA fragments from the mitochondrial hypervariable region. Our data, jointly analysed with previously published sequences, support the view that Italian aurochsen were genetically similar to modern bovine breeds, but very different from northern/central European aurochsen. Bayesian analyses and coalescent simulations indicate that the genetic variation pattern in both Italian and northern/central European aurochsen is compatible with demographic stability after the last glaciation. We provide evidence that signatures of population expansion can erroneously arise in stable aurochsen populations when the different ages of the samples are not taken into account. Conclusions Distinct groups of aurochsen probably inhabited Italy and northern/central Europe after the last glaciation, respectively. On the contrary, Italian and Fertile Crescent aurochsen likely shared several mtDNA sequences, now common in modern breeds. We argue that a certain level of genetic homogeneity characterized aurochs populations in Southern Europe and the Middle East, and also that post-glacial recolonization of northern and central Europe advanced, without major demographic expansions, from eastern, and not southern, refugia.Background The aurochs ( Bos primigenius ) was a large bovine that ranged over almost the entirety of the Eurasian continent and North Africa. It is the wild ancestor of the modern cattle ( Bos taurus ), and went extinct in 1627 probably as a consequence of human hunting and the progressive reduction of its habitat. To investigate in detail the genetic history of this species and to compare the population dynamics in different European areas, we analysed Bos primigenius remains from various sites across Italy. Results Fourteen samples provided ancient DNA fragments from the mitochondrial hypervariable region. Our data, jointly analysed with previously published sequences, support the view that Italian aurochsen were genetically similar to modern bovine breeds, but very different from northern/central European aurochsen. Bayesian analyses and coalescent simulations indicate that the genetic variation pattern in both Italian and northern/central European aurochsen is compatible with demographic stability after the last glaciation. We provide evidence that signatures of population expansion can erroneously arise in stable aurochsen populations when the different ages of the samples are not taken into account. Conclusions Distinct groups of aurochsen probably inhabited Italy and northern/central Europe after the last glaciation, respectively. On the contrary, Italian and Fertile Crescent aurochsen likely shared several mtDNA sequences, now common in modern breeds. We argue that a certain level of genetic homogeneity characterized aurochs populations in Southern Europe and the Middle East, and also that post-glacial recolonization of northern and central Europe advanced, without major demographic expansions, from eastern, and not southern, refugia.