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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.

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.

Grotta d'Oriente, a small coastal cave located on the island of Favignana (Sicily, Italy) is a key site for the study of the early human colonization of Sicily. The individual known as Oriente C was found in the lower portion of an anthropogenic deposit containing typical local Late Upper Palaeolithic (Late Epigravettian) stone assemblages. Two radiocarbon dates on charcoal from the deposit containing the burial are consistent with the archaeological context and refer Oriente C to a period spanning about 14,200-13,800 cal. BP. Anatomical features are similar to those of Late Upper Palaeolithic populations of the Mediterranean and show some affinity with Palaeolithic individuals of San Teodoro (Messina, Sicily). Here we present new ancient DNA data from Oriente C. Our results, confirming previous genetic analysis, suggest a substantial genetic homogeneity among Late Epigravettian hunter-gatherer populations of Central Mediterranean, presumably as a consequence of continuous gene flow among different groups, or a range expansion following the Last Glacial Maximum (LGM).

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, 2 n = 44); Pitheciidae, Callicebus cupreus [red titi monkey, or coppery monkey, 2 n = 46)] and Atelidae, Alouatta caraya (black and gold howler, 2 n = 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 C allicebus 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. [ABSTRACT FROM AUTHOR]

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.

Farming was first introduced to Europe in the mid-seventh millennium bc, and was associated with migrants from Anatolia who settled in the southeast before spreading throughout Europe. Here, to understand the dynamics of this process, we analysed genome-wide ancient DNA data from 225 individuals who lived in southeastern Europe and surrounding regions between 12000 and 500 bc. We document a west-east cline of ancestry in indigenous hunter-gatherers and, in eastern Europe, the early stages in the formation of Bronze Age steppe ancestry. We show that the first farmers of northern and western Europe dispersed through southeastern Europe with limited hunter-gatherer admixture, but that some early groups in the southeast mixed extensively with hunter-gatherers without the sex-biased admixture that prevailed later in the north and west. We also show that southeastern Europe continued to be a nexus between east and west after the arrival of farmers, with intermittent genetic contact with steppe populations occurring up to 2,000 years earlier than the migrations from the steppe that ultimately replaced much of the population of northern Europe.

The Cercopithecini, or African guenon monkeys, are one of the most diverse clades of living primates and comprise the most species-rich clade of Catarrhini. Species identity is announced by flamboyant coloration of the facial and genital regions and, more cryptically, by vigorous chromosomal rearrangements among taxa. Beneath the skin, however, these animals are skeletally conservative and show low levels of genetic sequence divergence consonant with recent divergence between congeneric species. The guenons clearly demonstrate that morphological, cytogenetic, and reproductive differentiation proceed at different rates during speciation. We review diverse kinds of data in an effort to understand this conundrum., (© 2017 Wiley Periodicals, Inc.)

The Mediterranean shores stretching between Sicily, Southern Italy and the Southern Balkans witnessed a long series of migration processes and cultural exchanges. Accordingly, present-day population diversity is composed by multiple genetic layers, which make the deciphering of different ancestral and historical contributes particularly challenging. We address this issue by genotyping 511 samples from 23 populations of Sicily, Southern Italy, Greece and Albania with the Illumina GenoChip Array, also including new samples from Albanian- and Greek-speaking ethno-linguistic minorities of Southern Italy. Our results reveal a shared Mediterranean genetic continuity, extending from Sicily to Cyprus, where Southern Italian populations appear genetically closer to Greek-speaking islands than to continental Greece. Besides a predominant Neolithic background, we identify traces of Post-Neolithic Levantine- and Caucasus-related ancestries, compatible with maritime Bronze-Age migrations. We argue that these results may have important implications in the cultural history of Europe, such as in the diffusion of some Indo-European languages. Instead, recent historical expansions from North-Eastern Europe account for the observed differentiation of present-day continental Southern Balkan groups. Patterns of IBD-sharing directly reconnect Albanian-speaking Arbereshe with a recent Balkan-source origin, while Greek-speaking communities of Southern Italy cluster with their Italian-speaking neighbours suggesting a long-term history of presence in Southern Italy.

It has been hypothesized that interstitial telomeric sequences (ITSs), i.e., repeated telomeric DNA sequences found at intrachromosomal sites in many vertebrates, could be correlated to chromosomal rearrangements and plasticity. To test this hypothesis, we hybridized a telomeric PNA probe through FISH on representative species of 2 primate infraorders, Strepsirrhini (Lemur catta, Otolemur garnettii, Nycticebus coucang) and Catarrhini (Erythrocebus patas, Cercopithecus petaurista, Chlorocebus aethiops, Colobus guereza), as well as on 1 species of the order Scandentia, Tupaia minor, used as an outgroup for primates in phylogenetic reconstructions. In almost all primate species analyzed, we found a telomeric pattern only. In Tupaia, the hybridization revealed many bright ITSs on at least 11 chromosome pairs, both biarmed and acrocentric. These ITS signals in Tupaia correspond to fusion points of ancestral human syntenic associations, but are also present in other chromosomes showing synteny to only a single human chromosome. This distribution pattern was compared to that of the heterochromatin regions detected through sequential C-banding performed after FISH. Our results in the analyzed species, compared with literature data on ITSs in primates, allowed us to discuss different mechanisms responsible for the origin and distribution of ITSs, supporting the correlation between rearrangements and ITSs., (© 2017 S. Karger AG, Basel.)

The relationship between genetic and linguistic diversification in human populations has been often explored to interpret some specific issues in human history. The Albanian-speaking minorities of Sicily and Southern Italy (Arbereshe) constitute an important portion of the ethnolinguistic variability of Italy. Their linguistic isolation from neighboring Italian populations and their documented migration history, make such minorities particularly effective for investigating the interplay between cultural, geographic and historical factors. Nevertheless, the extent of Arbereshe genetic relationships with the Balkan homeland and the Italian recipient populations has been only partially investigated. In the present study we address the genetic history of Arbereshe people by combining highly resolved analyses of Y-chromosome lineages and extensive computer simulations. A large set of slow- and fast-evolving molecular markers was typed in different Arbereshe communities from Sicily and Southern Italy (Calabria), as well as in both the putative Balkan source and Italian sink populations. Our results revealed that the considered Arbereshe groups, despite speaking closely related languages and sharing common cultural features, actually experienced diverging genetic histories. The estimated proportions of genetic admixture confirm the tight relationship of Calabrian Arbereshe with modern Albanian populations, in accordance with linguistic hypotheses. On the other hand, population stratification and/or an increased permeability of linguistic and geographic barriers may be hypothesized for Sicilian groups, to account for their partial similarity with Greek populations and their higher levels of local admixture. These processes ultimately resulted in the differential acquisition or preservation of specific paternal lineages by the present-day Arbereshe communities.

The article presents a study on human ecological transitions in Ancient Sicily in Italy through a comparative analysis of dento-alveolar lesions in the Tyrrhenian region. The study examined whether environmental and cultural parameters influenced the survival rates and quality of life of humans in the area. Also cited are the data studied, including the frequencies of arthritis, periostitis, and cribra orbitalia.

Spermatocyte chromosomes of the slug Milax nigricans (Mollusca: Gastropoda: Pulmonata) were studied using silver staining (Ag-NOR) and fluorescent in situ hybridization (FISH) with four repetitive DNA probes [18S rDNA, 5S rDNA, (TTAGGG)n and (GATA)n]. Silver impregnation was inadequate to localize the chromosome sites of nucleolus organizer regions (NORs) since no silver dots occurred on the chromosomes at spermatogonial metaphase and a diffuse silver stainability could be observed on the bivalents at metaphase-I. Unlike silver staining, single-colour rDNA FISH consistently mapped major ribosomal sites (18S–28S rDNA) on two small-sized chromosomes in spermatogonial cells and on the correspondent metaphase-I bivalent in spermatocytes. While telomeric (TTAGGG)n sequence hybridized to all chromosomes, (GATA)n probe localized abundant hybridization sites, dispersed throughout the genome. Simultaneous double-colour FISH demonstrated a close chromosomal association of 18S–28S rDNA, 5S rDNA and (TTAGGG)n. [Copyright &y& Elsevier]

The geographic position, isolation, and the long and dynamic history of colonization created a human context in Sicily that allows for a particular anthropological study; information about "migratory flow" and "population influx" could be investigated in the cranial morphology of a localized geographical region. The research goals are the identification of temporal trends in facial morphology in order to assess the adaptations and the microevolutionary trends and to verify if the cranial morphology of humans was modified by the various genetic contributions and more or less related to the intense and significant migratory flows. This work includes a diachronic morphometrics study of 3D models of 95 Sicilian skulls coming from 19 populations (from the Paleolithic to the Contemporary Age), providing an overview of human biodiversity and variability in Sicily. To achieve this, a geometric morphometrics analysis of the facial features of adult human skulls was performed. The approach used allows for the identification of the main micro-anatomical and micro-evolutionary features. Considering sample size/composition, it has been possible to discriminate between prehistorical and historical populations. The results highlight a series of morphological changes related to different migratory flows that have followed one another with different intensities and effectiveness starting from the Prehistory up to the Contemporary Age. The human peopling of Sicily is a subject of continuous debate; however, this study points to the coexistence of microevolutionary patterns and population dynamics, with the latter being one of the main causes of the morphological variations. [ABSTRACT FROM AUTHOR]

Genome and transcriptome examinations have become more common due to Next-Generation Sequencing (NGS), which significantly increases throughput and depth coverage while reducing costs and time. Mitochondrial DNA (mtDNA) is often the marker of choice in degraded samples from archaeological and forensic contexts, as its higher number of copies can improve the success of the experiment. Among other sequencing strategies, amplicon-based NGS techniques are currently being used to obtain enough data to be analyzed. There are some pipelines designed for the analysis of ancient mtDNA samples and others for the analysis of amplicon data. However, these pipelines pose a challenge for non-expert users and cannot often address both ancient and forensic DNA particularities and amplicon-based sequencing simultaneously. To overcome these challenges, a user-friendly bioinformatic tool was developed to analyze the non-coding region of human mtDNA from degraded samples recovered in archaeological and forensic contexts. The tool can be easily modified to fit the specifications of other amplicon-based NGS experiments. A comparative analysis between two tools, MarkDuplicates from Picard and dedup parameter from fastp, both designed for duplicate removal was conducted. Additionally, various thresholds of PMDtools, a specialized tool designed for extracting reads affected by post-mortem damage, were used. Finally, the depth coverage of each amplicon was correlated with its level of damage. The results obtained indicated that, for removing duplicates, dedup is a better tool since retains more non-repeated reads, that are removed by MarkDuplicates. On the other hand, a PMDS = 1 in PMDtools was the threshold that allowed better differentiation between present-day and ancient samples, in terms of damage, without losing too many reads in the process. These two bioinformatic tools were added to a pipeline designed to obtain both haplotype and haplogroup of mtDNA. Furthermore, the pipeline presented in the present study generates information about the quality and possible contamination of the sample. This pipeline is designed to automatize mtDNA analysis, however, particularly for ancient samples, some manual analyses may be required to fully validate results since the amplicons that used to be more easily recovered were the ones that had fewer reads with damage, indicating that special care must be taken for poor recovered samples. [ABSTRACT FROM AUTHOR]

Deep-Seated Gravitational Slope Deformations (DSGSDs) are common in many geological environments, and due to their common limited displacement rate, they can remain unrecognized for a long time. Among the most significant events in Sicily is the Mt. San Calogero DSGSD. To contribute to a better understanding of its characteristics, including the geologic setting promoting its development, ongoing kinematics, and mechanism, a specific analysis was completed. In this paper, the results of this analysis, based on a three-folded strategy, are provided and interpreted in the context of DSGSD predisposing conditions and controlling factors. Especially, field observations associated to visual interpretation of aerial imagery were used for the identification and mapping of main geological features and landforms, high-resolution X-Band DInSAR data enabled researchers to fully characterize the deformational behavior of the slope, while a reduced complexity slope stability analysis allowed them to reconstruct the deep geometry of the DSGSD. Results from the analysis indicate that the DSGSD of Mt. San Calogero is composed of three blocks corresponding to fault-bounded tectonic elements and characterized by a specific kinematics and sensitivity to external forcing (i.e., rainfall), multiple landslides are associated to the DSGSD in the area and the deep geometry of the DSGSD is concave upward and resemble the characteristics of a rotational slide. The interpretation of the results suggests that the formation and the deformation of the Mt. San Calogero DSGSD are linked with the local and regional fault systems related to the Sicilian orogen, while shallow landslides are triggered, in clayey terrains, mostly by rainfalls. In addition, the integrated approach reveals that active tectonics and rainfalls in the San Calogero massive relief are the main driving forces of its different deformation behavior. [ABSTRACT FROM AUTHOR]

The island of Sicily is considered to be among the first occupied by humans in the European Upper Paleolithic. Studies to understand early occupation of the island are mostly concentrated on the northern shores. Our project, Early Occupation of Sicily (EOS), focuses on southeastern Sicily so to address questions regarding dispersal to Mediterranean islands and Late Pleistocene landscapes and environments. Here, we present the initial results of our terrestrial and underwater surveys in combination with archival work and analyses of museum collections. In SE Sicily very few Upper Paleolithic sites have been excavated and analyzed using scientific methods. We have relocated and assessed ~20 caves and rock shelters identified between the 1870s and 1990s, studied museum collections, and collected raw material to reconstruct procurement patterns. To identify new sites, we conducted land and underwater surveys to reconstruct paleo-shorelines and past environments. We have identified three sites, two on land and one partially submerged, that still contain unexplored archaeological sediments, demonstrated in one instance through seismic tomography. This work shows the potential of re-examining minimally studied sites and materials to reconstruct mobility patterns and environmental impact of the first inhabitants of the island. [ABSTRACT FROM AUTHOR]

The Greek marble statue of the Auriga of Mozia Island, in Sicily, is the most important artwork displayed at the Whitaker Foundation Archaeological Museum. It underwent geophysical investigations twice, in 2012 and 2021, to assess the marble's degradation. The 2012 investigation prepared the statue for transfer to the Paul Getty Museum in New York and repositioning on an anti-seismic pedestal. The 2021 investigation evaluated potential new damage before another transfer. Both investigations utilized 3D ultrasonic tomography (UST) to detect degraded marble areas and ground-penetrating radar (GPR) to identify internal discontinuities, such as fractures or lesions, and locate metal pins that were previously inserted to reassemble the statue and its pedestal. Results from the UST indicate an average marble velocity of approximately 4700 m/s, suggesting good mechanical strength, with some areas showing lower velocities (~3000 m/s) within the material's variability range. The GPR profiles demonstrated internal signal homogeneity, excluding internal fracture surfaces or lesions, and confirmed the presence of metallic pins. This study highlights the effectiveness of integrating UST and GPR for non-invasive diagnostics of marble sculptures, providing detailed insights into the marble's condition and identifying hidden defects or damage. [ABSTRACT FROM AUTHOR]

During the Late Pleistocene, stadial and interstadial fluctuations affected vegetation, fauna, and human groups that were forced to cope with these pronounced spatial–temporal climatic and environmental changes. These changes were especially abrupt during Marine Isotope Stage (MIS) 3. Here, we reconstruct the climatic trends in northern Iberia considering the stable isotopic composition of ungulate skeletal tissue found in archaeological deposits dated between 80 and 15 kacalBP. The carbon and oxygen isotopic composition preserved in the carbonate fraction of tooth enamel provides a reliable and high-resolution proxy of the food and water consumed by these animals, which is indirectly related to the local vegetation, environment, and climate, allowing us to estimate palaeotemperatures and rainfall intensity. This study presents new isotope data from 44 bovine, equid, and cervid teeth from five archaeological sites in the Vasco-Cantabrian region (El Castillo, Axlor, Labeko Koba, Aitzbitarte III interior, and El Otero) and one in northeastern Iberia (Canyars), where human evidence is attested from the Mousterian to the Magdalenian. The carbon isotope values reflect animals feeding on diverse C3 plants in open environments and point to differentiated ecological niches for equids and bovines, especially during the Aurignacian in the Vasco-Cantabrian region. Temperature estimations based on oxygen isotopic compositions and rainfall obtained from carbon isotopic compositions indicate colder and more arid conditions than nowadays for the human occupations from the Late Mousterian to the Aurignacian. The contemporary northeastern Iberian site shows slightly lower temperatures related to an arid period when animals mainly grazed in open landscapes. In the Vasco-Cantabrian region, during MIS 2, the Gravettian data reflect a landscape opening, whereas the Magdalenian points to warmer (but still arid) conditions. [ABSTRACT FROM AUTHOR]

The animal and plant biodiversity of the Italian territory is known to be one of the richest in the Mediterranean basin and Europe as a whole, but does the genetic diversity of extant human populations show a comparable pattern? According to a number of studies, the genetic structure of Italian populations retains the signatures of complex peopling processes which took place from the Paleolithic to modern era. Although the observed patterns highlight a remarkable degree of genetic heterogeneity, they do not, however, take into account an important source of variation. In fact, Italy is home to numerous ethnolinguistic minorities which have yet to be studied systematically. Due to their difference in geographical origin and demographic history, such groups not only signal the cultural and social diversity of our country, but they are also potential contributors to its bio-anthropological heterogeneity. To fill this gap, research groups from four Italian Universities (Bologna, Cagliari, Pisa and Roma Sapienza) started a collaborative study in 2007, which was funded by the Italian Ministry of Education, University and Research and received partial support by the Istituto Italiano di Antropologia. In this paper, we present an account of the results obtained in the course of this initiative. Four case-studies relative to linguistic minorities from the Eastern Alps, Sardinia, Apennines and Southern Italy are first described and discussed, focusing on their micro-evolutionary and anthropological implications. Thereafter, we present the results of a systematic analysis of the relations between linguistic, geographic and genetic isolation. Integrating the data obtained in the course of the long-term study with literature and unpublished results on Italian populations, we show that a combination of linguistic and geographic factors is probably responsible for the presence of the most robust signatures of genetic isolation. Finally, we evaluate the magnitude of the diversity of Italian populations in the European context. The human genetic diversity of our country was found to be greater than observed throughout the continent at short (0-200 km) and intermediate (700-800km) distances, and accounted for most of the highest values of genetic distances observed at all geographic ranges. Interestingly, an important contribution to this pattern comes from the "linguistic islands"( e.g. German speaking groups of Sappada and Luserna from the Eastern Italian Alps), further proof of the importance of considering social and cultural factors when studying human genetic variation.