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A cytogenetic study was carried out on the chromosomes and nuclear DNA contents of the land snails Cantareus aspersus and C. mazzullii (Gastropoda: Pulmonata). Chromosomes were studied using Giemsa staining, banding methods and fluorescent in situ hybridization (FISH) with three repetitive DNA probes [18S rDNA, (GATA)n and (TTAGGG)n]. Results were very similar in the two species both showing (1) 54 bi-armed chromosomes [submetacentrics (SM) + metacentrics (M) + subtelocentrics (ST)]; (2) 10 terminal NORs after sequential application of rDNA FISH and silver staining; (3) uniform DNA fluorescence with CMA3 and DAPI staining and (4) genomic composition considerably enriched both in highly- and moderately-repeated DNAs. The telomeric (TTAGGG)n sequence hybridized with the termini of all of the chromosomes in the two species. In spite of their apparent karyological uniformity, flow cytometry DNA assays showed that C. aspersus and C. mazzullii are characterized by different nuclear DNA content (C values are 3.58 and 3.08 pg, respectively) and slightly different base composition in their genomes. Present data on GS and AT% in C. mazzullii and C. aspersus confirm the trend toward high GS values and GC percentages among land snails.

The Archaeological Superintendency of Palermo (Sicily), with the chair of Anthropology at the University of Palermo, carried out a preliminary investigation in the Zubbio of Cozzo San Pietro (Bagheria) – a cave known so far only from a speleological point of view - which proved to be a funerary cave dating to the Copper/Bronze Age. In the course of archaeological work during the installation of the electricity grid in the Mondello area (Palermo), part of a necropolis consisting of three oven-shaped tombs was exposed. The tombs multiple depositions, whose remains were found in a very bad state of preservation. Based on the type of funerary structures and the equipment found in them, we hypothesize the existence of a necropolis datable to the Early Copper Age that occupies a large area. After an articulated presentation of both necropolises, thanks to a multidisciplinary approach, an attempt was made to re-read all the elements available for a reconstruction of the Conca d’Oro (Palermo, Italy), during the metal ages.

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.European Journal of Human Genetics advance online publication, 1 July 2015; doi:10.1038/ejhg.2015.138.

SOLITUDO SICULA SP. NOV. FIGS 4–5 Zoobank registration: urn: lsid: zoobank. org:act: F5011B57-E559-4F72-9131-D457D8B6B998. Holotype: ZCSP US.0-Q2, an almost complete right femur, missing only part of the major trochanter (Fig. 4). Paratypes: ZCSP US.0-Q1, a fragment of a right ischium (Fig. 5A, B); ZCSP US.2-Q4, a left pubis (Fig. 5C, D); ZCSP US.0-Q3, an ungual phalanx (Fig. 5 E-G). Due to the uncertainty of the attribution of the four skeletal remains to a single individual (see below), we do not group the ischium, the pubis and the phalanx along with the femur as a single holotype, but we keep them separated. Type locality and age: Zubbio di Cozzo San Pietro Cave, Municipality of Bagheria, near Palermo, northwestern Sicily, Italy. Latest Late Pleistocene. For details about the locality, see Locality information above. The tortoise remains here described come from an archaeological funerary area (Battaglia et al., 2020) placed at a depth of − 15.4 m from the entrance and characterized by disturbance caused by human and/or animal activity that determined a complex stratigraphy. The remains of the pubis, ZCSP US.2-Q4, was AMS-dated revealing an age of 12.5 ± 0.5 kya BP (Supporting Information, Fig. S3). All the tortoise material is referred to the latest Late Pleistocene assuming that it belongs to the same, extremely rare taxon (large-sized tortoises have never been reported in the several Sicilian Late Pleistocene-Holocene archaeological and paleontological sites so far studied), even if not necessarily to a single specimen (considering the alteration of the stratigraphy, a non-demonstrable but likely option because of non-anatomical overlap of the preserved skeletal elements, as well as their congruent size and common testudinid morphology). Etymology: Latin adjective in feminine gender, meaning ‘Sicilian’. Diagnosis: Member of Solitudo based on the generic characters mentioned above. Differing from other species of Solitudo in having trochanters that are at the same height with the femoral head, and a femoral head that is clearly elliptical, whereas in other species trochanters extend beyond the femoral head and the latter is not elliptical. Description Femur: ZCSP US.0-Q2 (Fig. 4; Supporting Information, Fig. S4) is a well-preserved right femur with a total length of 104 mm. The diaphysis is relatively slender and almost rectilinear, with a slight curvature on the distal part [more rectilinear than femora of Te. hermanni (adult and young individuals) and Te. marginata]. The dimensions of the narrowest point of the diaphysis are 13.1 × 12.9 mm. It is not possible to measure the original width of the femur at the level of the trochanters, as the trochanter major is laterally incomplete. The width of its preserved portion is 32 mm. The maximum width of the distal epiphysis is 37 mm. The neck is well defined, relatively long and contracted with respect to the maximum width of the head (not as in the Menorcan species which has a femoral head detached even more clearly from the neck). The minimum width of the neck is 22 mm; its minimum thickness is 16 mm. The intertrochanteric fossa is wide and occupies the entire surface between the trochanters; it is approximately 10 mm deep. The trochanters do not extend more proximally compared to the femoral head (see Supporting Information, Appendix S1 for comments on the orientation of the femur). The lateral surface of the head neck is nearly vertical, the head does not overhang the shaft as in Te. hermanni and Te. marginata. The two trochanters are joined ventrally (so that the intertrochanteric fossa does not open ventrally), but the muscular insertion surfaces are clearly separated, and in medial view, the space between these two surfaces becomes thinner until it forms a relatively thin crest. In ventral view, this crest is not rectilinear but forms a wide ‘U’ (above which much of the head of the femur is visible). These areas of muscular insertion are clear, as they are defined by a thin ridge. A similar ridge delimits the ventral margin of the muscular insertion surface of the head—the one that overlooks the intertrochanteric fossa; another similar crest delimits the insertion region of the distal condyles. The area of muscular insertion of the small trochanter is clearly triangular, and probably also that of the great trochanter, although the latter is partially incomplete. On the anterior surface of the diaphysis of the femur, at the small trochanter, there is a long ridge of muscular insertion of the femorotibialis (more than half of the diaphysis) evident but moderately developed (although not as much as in Te. marginata); it remains close to the edge between the anterior and ventral surface. On the posterior surface of the diaphysis, in connection with the great trochanter, there is an elongated area (depression with an irregular base) of muscular insertion of the adductor femoris, which expands distally by curving in a dorsal direction until it reaches the dorsal edge of the posterior surface at about the half of the diaphysis. The femoral head is narrow, narrower than the combined width of the trochanters (even more if we account for the missing part) and oval, clearly elliptical in outline, being oriented at an angle of approximately 30° compared to the anteroposterior plane. Distally, the tibial and fibular condyles are connected by a ridge ventrally, which is gently curved but only weakly developed. Ischium: ZCSP US.0-Q1 (Fig. 5A, B; Supporting Information, Fig. S5) is an incomplete right ischium, missing the anteromedial area that contacts with the contralateral element and with the pubis. The anterior margin is laminar (it forms a sharp crest). On its ventral surface, at this anterior laminar margin there is a moderate depression medially bounded by an evident termination. The posterior margin is rounded and in dorsal view it forms a wide concavity. The dorsal surface near the medial margin is slightly concave. Posteromedially, the lateral ischial process forms a sort of low and broad tubercle with a rough surface (note that in Te. hermanni and Te. marginata, the morphology is completely different, taking the shape of a pointed process). Near the posteromedial margin, the ischium thickens ventrally as it is also indicated by the shape of the suture area with the left ischium. The posterior surface of this thickened area is characterized by an area of muscular insertion delimited by a small ridge similar to that of the trochanters of the femur. Pubis: ZCSP US.2-Q4 (Fig. 5C, D) was an incomplete right pubis, preserving only its posterolateral portion. The three articular facets and the laminar region leading to the two other processes are preserved. This element has been destructively sampled for AMSdating and no longer exists. U n g u a l p h a l a n x: Z C S P U S.0- Q 3 (F i g. 5E - G; Supporting Information, Fig. S6) is an ungual phalanx, with a length of 29 mm. The articular facet is divided into two concavities separated by a vertical convexity. The upper portion of the proximal epiphysis is clearly projecting. On its ventral surface, near the facet joint, there are two prominent foramina. The gross morphology of the phalanx is clearly different from that of Testudo spp.; it is wide and flat instead of being rounded in section. Size: The femur is much larger than that of Te. marginata, which is the largest extant tortoise species in Europe (Ernst & Barbour, 1989; Bringsøe et al., 2001). For example, the Te. marginata femur MDHC 370 has a length of 51 mm, while the straight carapace length of the same specimen is 300 mm. On the basis of the length difference of the femora (ZCSP US.0-Q2 is 104 mm long), we estimate the straight carapace length of the extinct Sicilian tortoise as exceeding 50 cm and maybe up to 60 cm, i.e. significantly larger than that of extant Te. hermanni [up to 37.5 cm in the Balkans and up to 22 cm in the western Mediterranean (Cheylan, 2001)], or any other Testudo species. The size record for Te. marginata, the largest species of the genus, is 40 cm, but most specimens are significantly smaller (Bringsøe et al., 2001)., Published as part of Valenti, Pietro, Vlachos, Evangelos, Kehlmaier, Christian, Fritz, Uwe, Georgalis, Georgios L., Luján, Àngel Hernández, Miccichè, Roberto, Sineo, Luca & Delfino, Massimo, 2022, The last of the large-sized tortoises of the Mediterranean islands, pp. 1704-1717 in Zoological Journal of the Linnean Society 196 (4) on pages 1711-1714, DOI: 10.1093/zoolinnean/zlac044, http://zenodo.org/record/7390583, {"references":["Battaglia G, Micciche RM, Forgia V, Mannino MA, Scopelliti MG, Sineo L, Valenti P. 2020. New perspectives on the human occupation of the Gulf of Palermo during the Metal Ages: the funerary cave of Zubbio di Cozzo San Pietro (Bagheria) and the necropolis of Viale Venere (Mondello, Palermo). Journal of Archaeological Science: Reports 31: 102276.","Ernst CH, Barbour RW. 1989. Turtles of the world. Washington, DC: Smithsonian Institution Press.","Bringsoe H, Buskirk JR, Willemsen RE. 2001. Testudo marginata Schoepff, 1792 - Breitrandschildkrote. In: Fritz U, ed. Handbuch der Reptilien und Amphibien Europas, Band 3 / IIIA, Schildkroten (Testudines I) Bataguridae, Testudinidae, Emydidae. Wiebelsheim: Aula-Verlag, 291 - 334.","Cheylan M. 2001. Testudo hermanni Gmelin, 1789 - Griechische Landschildkrote. In: Fritz U, ed. Handbuch der Reptilien und Amphibien Europas, Band 3 / IIIA, Schildkroten (Testudines I) Bataguridae, Testudinidae, Emydidae. Wiebelsheim: Aula-Verlag, 179 - 289."]}

A petrographic characterization has been used here, for the first time, in the study of lithic raw materials exploited in prehistoric Sicily. Our research interests one of the oldest archaeological sites with evidence of the early human peopling of the island (∼15kyr ago): San Teodoro Cave, in northeastern Sicily. Two geological Formations, Numidian and Monte Soro Flysch gave origin to well-rounded pebbly quartzite elements scattered in the marine terraces surrounding the cave and likely exploited as one of the sources of the raw materials for the production of lithic tools by the Epigravettian communities having settled the place. The preference for one of the two qualities of quartzite is hypothesized thanks to the results of the petrographic analysis and a naked eye recognition of the differences between the two varieties of sandstone by the Epigravettian groups is also speculated.

This report considers Cola “u’ Nanu” (Cola the Dwarf) (Fig. 1) who was depicted in 1840 by the famous nineteenth century Sicilian painter Michele Panebianco (1806–1873).

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.

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., This study was supported by the Genographic Project 2.0 (Geno 2.0) Scientific Research Grant 4–13 and by the European Research Council ERC-2011-AdG 295733 grant (Langelin).

The current work is an in silico study of data from previous publications and genome browsers, on the origin of the human synteny HSA7a/16p. The molecular composition of the chromosomal segments identified as HSA7a/16 and 7b (free or differently associated) is not yet clear. This means that a syntenic association 7/16, which can be detected by an in situ hybridization (FISH) method in different taxa, may not necessarily correspond to those of the same association in different lineages. In silico research, together with comparative cytogenetics, have been applied in order to define the composition of the 7/16 syntenic association. These results allow a confident reconstruction of the syntenic associations HSA7/16 in diverse vertebrate lineages, indicating various levels of homology, but also considerable levels of non-homology, which should elicit caution with phylogenetic interpretations. The 7/16 association represents a paradigmatic example of the complexity involved in the interpretation of comparative cytogenetic data from a phylogenetic perspective.

In this report we present a case of neoplastic disease affecting an Iron Age skull that provides some of the earliest evidence of metastatic cancer (MC) in Western Europe. The cranium comes from the indigenous site of Baucina (Palermo, Sicily) and was recovered in a multiple burial context dated to the 6th–5th centuries BCE. The skull was attributed to an adult female and was characterized by numerous perforating lytic lesions. CT and 3D imaging analyses were crucial for obtaining a diagnosis of MC. Based on the morphology of the lytic lesions and the biological profile of our specimen, we can tentatively suggest breast carcinoma as the primary origin of the clinical manifestations recorded on the skull. This work also highlights the importance of utilizing an analytical approach to paleopathology that incorporates up-to-date CT and 3D imaging techniques.

To search for cytogenetic signatures that can help to clarify evolutionary affinities among the five orders within the Euarchontoglires clade, we focused on associations of conserved syntenic blocks that have been accumulated in the karyotypes of Primates (Strepsirhini and Haplorhini), five families of Rodentia, Scandentia (Tupaia belangeri), Dermoptera (Galeopterus variegatus) and Lagomorpha (Oryctolagus cuniculus). We examined available chromosome painting data to identify conserved chromosomes and chromosomal segments, and syntenic associations likely to have characterized the ancestral eutherian karyotype. The data set includes 161 characters that have been subjected to a concatenated analysis using maximum parsimony (MP) and Bayesian inference (BI). The phylogenetic pattern recovered is generally consistent with reconstructions based on molecular and morphological data (particularly with respect to higher systematic groupings), but there are several anomalies (e.g., in the position of the lagomorphs). Both MP and BI topologies have weak statistical support, as a consequence of the high number of autapomorphic and homoplastic character states that have evolved during the history of the clade. The vast majority of derived associations are located on the terminal portions of the branches, and very few can be identified to support deeper divergences in the tree, indicating that chromosomal structures are far more fluid that was previously recognized. The high levels of homoplasy reflected in our data suggest that the number of possible syntenic character states is limited by chromosomal structures, and the same associations occur repeatedly.

The site of Grotta d'Oriente, Island of Favignana, Sicily has yielded the complete skeleton of an adult female (OB) dated to the Mesolithic age. The cranial morphometry of this individual can provide us with some useful information about the peopling of Sicily in the Early Holocene period.Morphological affinities of OB and other Sicilian Mesolithic specimens were assessed to verify hypotheses concerning the early peopling of Sicily.Craniofacial metric data were employed in a comparative analysis with European Upper Palaeolithic (UP), Mesolithic, Neolithic, and Copper/Bronze age samples, and contemporary Italians. Both a model-free and a model-bound approach were used not only to calculate craniometric distances, but also to assess the role played by gene flow and drift to produce the resulting pattern of variations and relationships.A Sicilian Mesolithic (SM) sample, including OB, resulted morphologically very close to an Italian Late UP comparative group. A general similarity among Western/Central European UP and Mesolithic groups was also detected.Intense gene flow among hunter-gatherer populations accounts for close resemblances among various UP and Mesolithic groups. The beginning of a regional characterization is suggested by the morphological similarity between Italian Late UP and SM, and by decreasing gene flow among populations during the transition from the Upper Palaeolithic to the Mesolithic period.

The ancestral platyrrhine karyotype was characterised by a syntenic association of human 5 and a small segment of human 7 orthologues. This large syntenic association has undergone numerous rearrangements in various phylogenetic lines. We used a locus-specific molecular cytogenetic approach to study the chromosomal evolution of the human 7q11.23 orthologous sequences (William-Beuren syndrome, WS) in various Ceboidea (Platyrrhini) species. The fluorescent in situ hybridisation of the WS probe revealed a two-way pattern of chromosomal organisation that suggests various evolutionary scenarios. The first pattern (seen in Callimico and Saimiri ) includes a fairly simple disruption of the 7/5 syntenic association by a chromosome fission. The second pattern (seen in Atelinae, Alouattinae and in Callicebus ) is characterised by an increasing complexity in the 7/5 association as a consequence of a series of inversions and translocations resulting in different syntenic associations. These data support recent proposals for phylogenomic groupings of New World monkeys. The study also illustrates how single-locus probe hybridisations can reveal intrachromosomal rearrangements.

Genetic and cytogenetic comparison in between man and non-human primates has largely contributed to the knowledge of the evolution of the Order Primates, and in particular of man. Recently, the "Chromosome painting" approach indicated a strong conservation of syntenies in Eutheria. At present, a more precise identification of breakpoints and evolutionary related rearrangements can be obtained by BAC and locus specific in situ hybridi- sation. In spite to this situation the evolutionary history of different human autosomes remains a dilemma; at the same time, high resolution banded chromosome analysis confirms to be a valuable tool for the preliminary detection of fine rearrangements. This review critically describes current information concerning the evolution of human chro- mosome 7 orthologous in several Eutherian groups. Included in this analysis are data on species belonging to 11 or- ders. Nevertheless, this study has been mainly focused on Primates were we considered data from 9 species of Prosimians, 25 species of Platirrhinae, and 51 species of Catarrhinae. Chromosome 7 synteny appeared in a mamma- lian ancestor in a dual form, generally described as 7a and 7b forms. These chromosomes underwent to several line- specific rearrangements in the different orders. A particular complexity in chromosome rearrangements has been highlighted in Primates. A chronologically fossil-tuned dynamic of the synteny is proposed, starting from classical and molecular cytogenetics specific landmarks which appeared throughout evolution.

Forensic and archaeological examinations of human skeletons can provide us with evidence of violence. In this paper, we present the patterns of two cranial lesions found on an adult male (T173) buried in a grave in the necropolis ‘Isolato 96’, Messina, Sicily, dating back to the Roman Empire (1st century BC - 1st century AD). The skull reveals two perimortem traumatic lesions, one produced by a sharp object on the right parietal bone and the other one on the left parietal bone, presumably the result of a fall. The interpretation of fracture patterns found in this cranium are an illustration of how forensic approaches can be applied with great benefit to archaeological specimens. 2013 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

th September described this discovery to the scientific community (1). As is becoming increasingly frequent these days, given the high number of scientific articles, the media news reached us faster than the scientific information. The area known as TL2, a few hundred km as the crow flies south- west from the city of Kisangani, famous for its manufacturing, and important port on the Zaire river, is still uncontaminated and houses several important endemisms. This new species, studied in the area since 2007, on the basis of first sightings by the inhabitants of the zone and local hunters, has been named Cercopithecus lomamiensis. C.lomamiensis (CLO) is a tree-dweller and has been described in secondary forest ecology but climbs down to the ground with a certain regularity, foraging for seasonal herbs, things which many tree dwelling guenons do, even daily. Guenon's tree dwelling habit is never complete and should be intended in a critical sense (this would avoid unsatisfactory scholastic phylogenetic interpretations). The discovery and description of this new species, which required this long study, including circumstantial evidences, in order to ascertain the exact specific status, are of extreme interest in the study of the evolution, biogeography and conservation of this varied and fascinating type of African arboreal primate (2) that remains still very uncertain. The article in PlosOne analyses in a very detailed way this new species which at first sight, comprises characteristics which are common for its type: slender postcranial structure, undifferentiated, and multicoloured pattern. While the colours of its mantle reminds one of C.mitis, or mona group, the distribution of fur on the borders of the face and ears (but not on the crown) and the intense sky blue colouration of the scrotal and perineal area are something it has in common with C.hamlyni (CHA). Among the facial characteristics of C. lomamiensis one can observe a resemblance to C. hamlyni, something in the profile, a streak of lighter fur along the nose (however, nothing in comparison to the intensity of that of the CHA). CLO can mainly be distinguished from C. hamlyni, apart from its complete geographical separation, by the colours of the mantle, and for its generally less robust body. Moreover, although the cranial morphology and the sagittal profile are similar with CHA, the morphometric investigation designates principle traits of two distinct morphologies. On the contrary, if the morphological analysis does not lean towards a satisfactory relationship, what these two species seem to have most in common are the genetic traits resulting from the analysis of the loci of sexual chromosomes (TSPY and Xq13.3) which, despite indicating different divergent chronologies, both interspecific and intraspecific, unite the two taxa and separates them from the complicate radiation of the guenons. On this base the monotypic C. hamlyni group (3) enriches now of another component, different indeed, but presumably related on a genetic base. Further, it is now necessary to revise the taxonomic key to the superspecies, as C. hamlyni (sp. g.), was since now included in the species with "prevailing colour not greenish", as its pelage is very dark (greenish olive speckled heavily with black, and with pearl grey tips). It should be interesting to know if in previous studies this taxon has been never met and tentatively described. Museum collection are full of samples that have given, and can still give interesting surprises.Thomas and Wroughton (4) described a variant of C. hamlyni (Cercopithecus leucampix aurora), where the yellow was predominant in the coat. It was tentatively compared with samples belonging to the C. mitis group, but the sample was too incomplete for an exhaustive analysis. Long time passed without certainties and the C. hamlyni remained for one hundred years alone in its peculiar group (5).

Background The taxonomic and phylogenetic relationships of New World monkeys (Platyrrhini) are difficult to distinguish on the basis of morphology and because diagnostic fossils are rare. Recently, molecular data have led to a radical revision of the traditional taxonomy and phylogeny of these primates. Here we examine new hypotheses of platyrrhine evolutionary relationships by reciprocal chromosome painting after chromosome flow sorting of species belonging to four genera of platyrrhines included in the Cebidae family: Callithrix argentata (silvered-marmoset), Cebuella pygmaea (pygmy marmoset), Callimico goeldii (Goeldi's marmoset) and Saimiri sciureus (squirrel monkey). This is the first report of reciprocal painting in marmosets. Results The paints made from chromosome flow sorting of the four platyrrhine monkeys provided from 42 to 45 hybridization signals on human metaphases. The reciprocal painting of monkey probes on human chromosomes revealed that 21 breakpoints are common to all four studied species. There are only three additional breakpoints. A breakpoint on human chromosome 13 was found in Callithrix argentata, Cebuella pygmaea and Callimico goeldii, but not in Saimiri sciureus. There are two additional breakpoints on human chromosome 5: one is specific to squirrel monkeys, and the other to Goeldi's marmoset. Conclusion The reciprocal painting results support the molecular genomic assemblage of Cebidae. We demonstrated that the five chromosome associations previously hypothesized to phylogenetically link tamarins and marmosets are homologous and represent derived chromosome rearrangements. Four of these derived homologous associations tightly nest Callimico goeldii with marmosets. One derived association 2/15 may place squirrel monkeys within the Cebidae assemblage. An apparently common breakpoint on chromosome 5q33 found in both Saimiri and Aotus nancymae could be evidence of a phylogenetic link between these species. Comparison with previous reports shows that many syntenic associations found in platyrrhines have the same breakpoints and are homologous, derived rearrangements showing that the New World monkeys are a closely related group of species. Our data support the hypothesis that the ancestral karyotype of the Platyrrhini has a diploid number of 2n = 54 and is almost identical to that found today in capuchin monkeys; congruent with a basal position of the Cebidae among platyrrhine families.

Background The recent advances in human genetics have recently provided new insights into phenotypic variation and genome variability. Current forensic DNA techniques involve the search for genetic similarities and differences between biological samples. Consequently the selection of ideal genomic biomarkers for human identification is crucial in order to ensure the highest stability and reproducibility of results. Results In the present study, we selected and validated 24 SNPs which are useful in human identification in 1,040 unrelated samples originating from three different populations (Italian, Benin Gulf and Mongolian). A Rigorous in silico selection of these markers provided a list of SNPs with very constant frequencies across the populations tested as demonstrated by the Fst values. Furthermore, these SNPs also showed a high specificity for the human genome (only 5 SNPs gave positive results when amplified in non-human DNA). Conclusion Comparison between in silico and in vitro analysis showed that current SNPs databases can efficiently improve and facilitate the selection of markers because most of the analyses performed (Fst, r2, heterozigosity) in more than 1,000 samples confirmed available population data.

We developed chromosome painting probes for Callicebus pallescens from flow-sorted chromosomes and used multidirectional chromosome painting to investigate the genomic rearrangements in C. cupreus and C. pallescens. Multidirectional painting provides information about chromosomal homologies at the subchromosomal level and rearrangement break points, allowing chromosomes to be used as cladistic markers. Chromosome paints of C. pallescens were hybridized to human metaphases and 43 signals were detected. Then, both human and C. pallescens probes were hybridized to the chromosomes of another titi monkey, C. cupreus. The human chromosome paints detected 45 segments in the haploid karyotype of C. cupreus. We found that all the syntenic associations proposed for the ancestral platyrrhine karyotype are present in C. cupreus and in C. pallescens. The rearrangements differentiating C. pallescens from C. cupreus re one inversion, one fission and three fusions (two tandem and one Robertsonian)that occurred on the C. cupreus lineage. Our results support the hypothesis that karyological evolution in titi monkeys has resulted in reduction in diploid number and that species with higher diploid numbers (with less derived, more ancestral karyotypes)are localized in the centre of the geographic range of the genera, while more derived species appear to occupy the periphery.

Archaeological excavation in an Etruscan room tomb, from the Monterozzi necropolis in Tarquinia led to the recovery of four individuals. It was hypothesized that they could be members of a single family group. As both archaeological data and classical anthropological analysis provided little information in this direction, ancient DNA (aDNA) was extracted from bone and tooth fragments of the individuals. For each subject HVR-I of the mitochondrial DNA (mtDNA) was cloned and sequenced. To identify the sex of the individuals, amelogenine and SRY genes were analysed. Short tandem repeat (STR) characterization was also performed. DNA studies were preceded by the evaluation of amino acids racemization extent and thermogravimetric analysis (TGA), to evaluate, respectively, degradation and quantity of organic matter preserved in the samples. Results show that two subjects are males, whereas two are females. Furthermore, three of them share the same mtDNA sequence, and, as such, they could be related by maternal lineage. This evidence supports the hypothesis that the occupants of the tomb can be considered members of a family group composing two parents and their son and daughter. Molecular study supplies new data to better define the reconstruction previously proposed, based only on a morphological and archaeological approach. Multidisciplinary investigation also allows comparison of the different methods and integration of their contributions.