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Distribution and clustering of genes preferentially expressed in specific tissues based on their length. A) Boxplot depicting the length of all human genes grouped by preferential expression. The letters under each box represent statistical similarity of the series (p-values

Transposable elements (TEs) play an essential role in shaping eukaryotic genomes and generating variability. Speciation and TE activity bursts could be strongly related in mammals, in which simple gradualistic models of differentiation do not account for the currently observed species variability. In order to test this hypothesis, we designed two parameters: the Density of insertion (DI) and the Relative rate of speciation (RRS). DI is the ratio between the number of TE insertions in a genome and its size, whereas the RRS is a conditional parameter designed to identify potential speciation bursts. Thus, by analyzing TE insertions in mammals, we defined the genomes as “hot” (high DI) and “cold” (low DI). Then, comparing TE activity among 29 taxonomical families of the whole Mammalia class, 16 intra-order pairs of mammalian species, and four superorders of Eutheria, we showed that taxa with high rates of speciation are associated with “hot” genomes, whereas taxa with low ones are associated with “cold” genomes. These results suggest a remarkable correlation between TE activity and speciation, also being consistent with patterns describing variable rates of differentiation and accounting for the different time frames of the speciation bursts. Electronic supplementary material The online version of this article (10.1007/s00239-018-9847-7) contains supplementary material, which is available to authorized users.

HD-, HN- and AMH-specific RI distribution in present-day populations. A-B) Heatmaps of respectively HD- and HN-specific RI distribution in present-day populations. Each line of the maps represents a single insertion, intensity of the color from grey to green reflects the frequency in modern populations. Arrows indicate three insertions that were identified as shared between HN and HD, rectangles highlight insertions that are putatively introgressed in modern populations post Out-of-Africa. C) Simulated curve representing random sampling of AFR individuals for the identification and exclusion of polymorphic archaic-specific insertions. Red dotted lines indicate 95% confidence intervals. D) Heatmap of AMH-specific RI distribution in in present-day populations: each line of the map represents a single insertion, intensity of the color from grey to purple reflects the frequency in modern populations. E) Neighbour joining tree calculated by using AMH-specific RIs in present-day populations as phylogenetic markers. Branches in orange are from populations with African descent, blue for European descent, green for South-Asian descent, red for East-Asian descent and black for Native-American descent, as clustered by RI distribution. (PDF 229 kb)

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.

We performed a retrospective analysis of clinical and laboratory data over 5 years in a tertiary centre to assess clinical and microbiological characteristics of patients with Raoultella spp. infection. Raoultella spp. were deemed responsible for clinical infections in 57 patients (R. planticola, n = 32 and R. ornithinolytica, n = 25). The most prevalent diagnoses for R. planticola were cystitis (50%; n = 16) followed by bacteraemia and pneumonia (9.4%; n = 3); for R. ornithinolytica, cystitis (36%; n = 9) followed by pneumonia (24%; n = 6). Immunodeficiency was present in 18 patients (56.3%) with R. planticola and in 16 patients (64%) with R. ornithinolytica infection. Of these, 55.6% and 37.5% had diabetes and 27.8% and 18.% were solid organ transplant recipients, respectively. All isolates were sensitive to third-generation cephalosporins, fluoroquinolones and aminoglycosides. Mortality of infections with R. planticola (n = 5; 15.6%) was higher than for R. ornithinolytica (n = 2; 8.0%), but the difference was not statistically significant.

Objective Although genetic variants related to lactase persistence in European populations were supposed to have firstly undergone positive selection in farmers from the Balkans and Central Europe, demographic and evolutionary dynamics that subsequently shaped the distribution of this adaptive trait across the continent have still to be elucidated. To deepen the knowledge about potential routes of diffusion of lactase persistence to Western Europe we investigated variation at a large genomic region surrounding the LCT gene along the Italian peninsula, a geographical area that played a key role in population movements responsible for Neolithic diffusion across Europe. Methods By genotyping 40 highly selected SNPs in more than 400 Italian individuals we described gradients of nucleotide and haplotype variation potentially related to lactase persistence and compared them with those observed in several European and Mediterranean human groups. Results Multiple migratory events responsible for earlier introduction of the examined alleles in Italy than in Northern European regions could be invoked. Different demic processes occurred along the western and eastern sides of the peninsula were also inferred via linkage disequilibrium and population structure analyses. Conclusion The appreciable genetic continuum observed between people from Northern or Central-Western Italy and Central European populations suggested a local arrival of lactase persistence-related variants mainly via overland routes. On the contrary, diversity of Central-Eastern and Southern Italian groups entailed also gene flow from South-Eastern Mediterranean regions, in accordance to the earlier entrance of the Neolithic in Southern Italy via maritime population movements along the Mediterranean coastlines. Am J Phys Anthropol 158:708–718, 2015. © 2015 Wiley Periodicals, Inc.

Variations in emergency department admissions have been reported to happen as a result of major sports events. The work presented assessed changes in volume and urgency level of visits to a major Emergency Department in Lisbon during and after the city's football derby.Volume of attendances and patient urgency level, according to the Manchester Triage System, were retrospectively analyzed for the 2008-2011 period. Data regarding 24-hour periods starting 45 minutes before kick-off was collected, along with data from similar periods on the corresponding weekdays in the previous years, to be used as controls. Data samples were organized according to time frame (during and after the match), urgency level, and paired accordingly.A total of 14 relevant periods (7 match and 7 non-match) were analyzed, corresponding to a total of 5861 admissions. During the match time frame, a 20.6% reduction (p = 0.06) in the total number of attendances was found when compared to non-match days. MTS urgency level sub-analysis only showed a statistically significant reduction (26.5%; p = 0.05) in less urgent admissions (triage levels green-blue). Compared to controls, post-match time frames showed a global increase in admissions (5.6%; p = 0.45), significant only when considering less urgent ones (18.9%; p = 0.05).A decrease in the total number of emergency department attendances occurred during the matches, followed by a subsequent increase in the following hours. These variations only reached significance among visits triaged green-blue.During major sports events an overall decrease in emergency department admissions seems to take place, especially due to a drop in visits associated with less severe conditions.IntroduçÉo: Está descrita a ocorrência de variações nas admissões ao serviço de urgência como resultado de eventos desportivos importantes. O estudo que apresentamos avaliou mudanças no volume e tipo de visitas a um serviço de urgência central de Lisboa durante e após o derby futebolístico da cidade.Material e Métodos: Analisámos retrospectivamente o volume de admissões e a categoria de urgência atribuída pela Triagem de Manchester, de 2008 a 2011. Recolhemos dados relativos a períodos de 24 horas com início 45 minutos antes dos jogos, assim como dados relativos a períodos semelhantes nos dias da semana correspondentes dos anos anteriores, para controlo. Organizaram-se os dados por espaços temporais (durante e pós-jogo) e categoria de urgência, após o que se emparelharam.Resultados: Analisaram-se 14 períodos (sete com jogo e sete sem jogo) e um total de 5861 admissões. Durante o jogo verificou-se uma reduçÉo de 20,6% (p = 0,06) no número total de admissões face aos dias controlo. Na sub-análise das categorias da Triagem de Manchester a reduçÉo foi estatisticamente significativa (26,5%; p = 0,05) apenas nas admissões menos urgentes (categorias verdeazul). Comparado com o controlo, o pós-jogo mostrou um aumento global do número de admissões (5,6%; p = 0,45), significativo somente quando consideradas as menos urgentes (18,9%; p = 0,05).DiscussÉo: Durante os jogos o número total de admissões ao serviço de urgência sofreu um decréscimo, ocorrendo nas horas subsequentes um aumento das mesmas. Estas variações só foram significativas nas categorias de triagem verde-azul.ConclusÉo: Durante eventos desportivos importantes parece dar-se uma reduçÉo nas admissões ao serviço de urgência, sobretudo devido a uma diminuiçÉo das visitas associadas a situações menos graves.

Objective Frequency patterns of the lactase persistence (LP)-associated −13,915 G allele and archaeological records pointing to substantial role played by southern regions in the peopling and domestication processes that involved the Arabian Peninsula suggest that Southern Arabia plausibly represented the center of diffusion of such adaptive variant. Nevertheless, a well-defined scenario for evolution of Arabian LP is still to be elucidated and the burgeoning archaeological picture of complex human migrations occurred through the peninsula is not matched by an equivalent high-resolution description of genetic variation underlying this adaptive trait. To fill this gap, we investigated diversity at a wide genomic interval surrounding the LCT gene in different Southern Arabian populations. Methods 40 SNPs were genotyped to characterize LCT profiles of 630 Omani and Yemeni individuals to perform population structure, linkage disequilibrium, population differentiation-based and haplotype-based analyses. Results Typical Arabian LP-related variation was found in Dhofaris and Yemenis, being characterized by private haplotypes carrying the −13,915 G allele, unusual differentiation with respect to northern groups and conserved homozygous haplotype-blocks, suggesting that the adaptive allele was likely introduced in the Arabian gene pool in southern populations and was then subjected to prolonged selective pressure. Conclusion By pointing to Yemen as one of the best candidate centers of diffusion of the Arabian-specific adaptive variant, obtained results indicate the spread of indigenous groups as the main process underlying dispersal of LP along the Arabian Peninsula, supporting a refugia model for Arabian demic movements occurred during the Terminal Pleistocene and Early Holocene.

The Italian peninsula has long represented a natural hub for human migrations across the Mediterranean area, being involved in several prehistoric and historical population movements. Coupled with a patchy environmental landscape entailing different ecological/cultural selective pressures, this might have produced peculiar patterns of population structure and local adaptations responsible for heterogeneous genomic background of present-day Italians. To disentangle this complex scenario, genome-wide data from 780 Italian individuals were generated and set into the context of European/Mediterranean genomic diversity by comparison with genotypes from 50 populations. To maximize possibility of pinpointing functional genomic regions that have played adaptive roles during Italian natural history, our survey included also ~250,000 exomic markers and ~20,000 coding/regulatory variants with well-established clinical relevance. This enabled fine-grained dissection of Italian population structure through the identification of clusters of genetically homogeneous provinces and of genomic regions underlying their local adaptations. Description of such patterns disclosed crucial implications for understanding differential susceptibility to some inflammatory/autoimmune disorders, coronary artery disease and type 2 diabetes of diverse Italian subpopulations, suggesting the evolutionary causes that made some of them particularly exposed to the metabolic and immune challenges imposed by dietary and lifestyle shifts that involved western societies in the last centuries.

Summary - 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.

Little is known about alterations of cyclin dependent kinase inhibitors p15INK4B, p16INK4A and of MDM2 inhibitor p14ARF due to single nucleotide polymorphisms (SNPs) located within the CDKN2A/B genes and/or neighbouring loci. In order to investigate the potential involvement of such common DNA sequence variants in leukemia susceptibility, an association study was performed by genotyping 23 SNPs spanning the MTAP, CDKN2A/B and CDKN2BAS loci, as well as relative intergenic regions, in a case-control cohort made up of 149 leukemia patients, including Philadelphia positive (Ph+) acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) samples, and 183 healthy controls. rs564398, mapping to the CDKN2BAS locus that encodes for ANRIL antisense non-coding RNA, showed a statistically significant correlation with the ALL phenotype, with a risk pattern that was compatible with an overdominant model of disease susceptibility and a OR of 2 (95% CI, 1.20–3.33; p = 7.1 × 10−3). We hypothesized that this association reflects the capability of some ANRIL polymorphisms to contribute to its transcription changes responsible for alterations of CDKN2A/B expression profiles, thus leading to abnormal proliferative boosts and consequent increased ALL susceptibility.

BACKGROUND: The choice of criteria for correct DNA sampling in isolated populations is often affected by ambiguities, despite its importance in medical and anthropological genetics. AIM: We propose a novel biodemographic approach to the study of isolates based on surname analysis and migration matrices, and we apply it to a candidate isolated population: the Val di Scalve (Italian Pre-Alps). METHODS: Kinship matrices and self-organizing maps (SOMs) were applied to information extracted from 2870 marriage records relative to the years 1866-1935. RESULTS: The Val di Scalve shows the typical genetic trademarks of an isolate at least up to the first half of the 20th century. Furthermore, the area was characterized by differential mobility patterns between males and females, consistent with the virilocal migration model. These data suggest reliable criteria for an efficient DNA sampling design by (a) detecting the units of analysis to be investigated (internal population subdivisions); (b) maximizing the number of paternal lineages in the sample for Y-chromosome studies (surnames); and (c) calculating the most convenient sample size. CONCLUSION: The surname-based sampling procedure can be exported and applied to larger and non-isolated populations.

Community-acquired pneumonia (CAP) is the cause of a considerable burden of morbidity and mortality among HIV-infected patients. The purpose of this study was to review recent literature for epidemiological trends and management of CAP in HIV patients. While the specific infectious etiologies are very diverse, bacterial infection and tuberculosis are the main causes of CAP in this population. Bacterial CAP mostly affects high-income countries, while tuberculosis is mostly in low-/middle-income countries. Early antiretroviral therapy is of benefit for all patients regardless of etiology and immune status. Specific etiologies require individualized approaches, both therapeutically and prophylatically. Antiretroviral therapy is recommended for all patients.

Observable patterns of cultural variation are consistently intertwined with demic movements, cultural diffusion, and adaptation to different ecological contexts (Cavalli-Sforza and Feldman 1981; Boyd and Richerson 1985). The quantitative study of gene-culture co-evolution has focused in particular on the mechanisms responsible for change in frequency and attributes of cultural traits, on the spread of cultural information through demic and cultural diffusion, and on detecting relationships between genetic and cultural lineages. Here, for the first time, we make use of worldwide whole-genome sequences (Pagani et al. 2016) to assess the impact of demic diffusion on cultural diversity, focusing on the variability observed in folktale traditions (N=596) (Uther 2004) in Eurasia and Africa. We show that at small geographic scales (

Voluntary termination of pregnancy (VTP), pre-conception and post-partum phases, as well as Occupational Medicine consultation for healthcare workers are opportunities for screening and vaccinating rubella seronegative childbearing women. However, data about vaccination acceptance following these phases is rarely reported. A retrospective study over a 2-year period (2016–2017) was performed, evaluating the prevalence of rubella seronegative women which underwent VTP (wVTP), mothers in early puerperal phase (mEPP) and childbearing healthcare workers (CbHW) aged 15–49 years. Anti-rubella vaccination rates and factors associated with vaccine hesitancy (VH) were investigated. Anti-rubella IgG titres were assessed in 8623 women. Seroprevalence of rubella susceptibility was 7.9% (wVTP 6.4%; mEPP 17.4%; CbHW 9.3%). Anti-rubella vaccination rates were found to be different in the three groups (wVTP 37.1%; mEPP 10.9%; CbHW 25.4%), specifically in 2016 and among women born in Italy. VH rate was higher in 2017, especially among wVTP and CbHW. Anti-rubella vaccination rates in wVTP vs. mEPP was higher in women born in Italy but not in those born abroad. Multivariable analyses demonstrated significantly higher risk of VH for mEPP (OR 8.2; 95% CI: 3.9–16.9) and women reporting history of allergy to drugs, food or environmental agents (OR 2.7; 95% CI: 1.4–5.1). During the analyzed period childbearing women included in this study were not adequately protected against rubella. Anti-rubella vaccination rates were widely unsatisfactory. Being mEPP and reporting allergy were significantly associated to higher rates of VH. Tailored strategies targeting on vaccine safety are needed for retention of these women in immunisation programmes., Highlights • Serosurvey of rubella susceptibility in childbearing women was performed. • Anti-rubella vaccination rate and factors related to hesitancy were analyzed. • Being mother in puerperal phase was associated to higher rates of hesitancy. • Reporting allergy predicted higher rates of hesitancy. • Tailored strategies for these women targeting on vaccine safety are needed.

Social and cultural factors had a critical role in determining the genetic structure of Europe. Therefore, socially stratified populations may help to focus on specific episodes of European demographic history. In this study, we use uniparental markers to analyse the genetic structure of Partecipanza in San Giovanni in Persiceto (Northern Italy), a peculiar institution whose origins date back to the Middle Ages and whose members form the patrilineal descent of a group of founder families. From a maternal point of view (mtDNA), Partecipanza is genetically homogeneous with the rest of the population. However, we observed a significant differentiation for Y-chromosomes. In addition, by comparing 17 Y-STR profiles with deep-rooted paternal pedigrees, we estimated a Y-STR mutation rate equal to 3.90 * 10(-3) mutations per STR per generation and an average generation duration time of 33.38 years. When we used these values for tentative dating, we estimated 1300-600 years ago for the origins of the Partecipanza. These results, together with a peculiar Y-chromosomal composition and historical evidence, suggest that Germanic populations (Lombards in particular) settled in the area during the Migration Period (400-800 AD, approximately) and may have had an important role in the foundation of this community.

OBJECTIVE: Although genetic variants related to lactase persistence in European populations were supposed to have firstly undergone positive selection in farmers from the Balkans and Central Europe, demographic and evolutionary dynamics that subsequently shaped the distribution of this adaptive trait across the continent have still to be elucidated. To deepen the knowledge about potential routes of diffusion of lactase persistence to Western Europe we investigated variation at a large genomic region surrounding the LCT gene along the Italian peninsula, a geographical area that played a key role in population movements responsible for Neolithic diffusion across Europe. METHODS: By genotyping 40 highly selected SNPs in more than 400 Italian individuals we described gradients of nucleotide and haplotype variation potentially related to lactase persistence and compared them with those observed in several European and Mediterranean human groups. RESULTS: Multiple migratory events responsible for earlier introduction of the examined alleles in Italy than in Northern European regions could be invoked. Different demic processes occurred along the western and eastern sides of the peninsula were also inferred via linkage disequilibrium and population structure analyses. CONCLUSION: The appreciable genetic continuum observed between people from Northern or Central-Western Italy and Central European populations suggested a local arrival of lactase persistence-related variants mainly via overland routes. On the contrary, diversity of Central-Eastern and Southern Italian groups entailed also gene flow from South-Eastern Mediterranean regions, in accordance to the earlier entrance of the Neolithic in Southern Italy via maritime population movements along the Mediterranean coastlines

Biodemographic methods are widely used to infer the genetic structure of human populations. In this study, we revise and standardize the procedures required by the migration matrix model of Malecot ([1950] Ann Univ Lyon Sci [A] 13:37–60), testing it in large historical-demographic databases of 85 populations from three mountain valleys with different degrees of isolation: Val di Lima (Italian Apennines, 21 parishes), Val di Sole, (Italian Alps, 27 parishes), and La Cabrera (Spain, 37 parishes). An add-on package (Biodem) for the R program is proposed to perform all calculations. Results from migration matrices are compared with those obtained from isonymic relationships. Migration and isonymy matrices are derived from 22,781 marriage records. Matrices are analyzed using a nonlinear isolation-by-distance (IBD) model and multivariate techniques (multidimensional scaling, Procrustes rotation, and cluster analysis). Microdifferentiation levels (FST) from the migration data agree with the observed inbreeding values: higher values are found in La Cabrera (FST = 0.0082), the most isolated population; Val di Lima (FST = 0.0015) and Val di Sole (FST = 0.0012) have lower values due to the larger parish population sizes and greater mobility. Temporal changes of FST and IBD are analyzed using the migration matrix approach. The populations show a marked decline in FST values in time, together with increased population mobility and emigration rates. In all three valleys, marital migration and isonymy yield similar results, suggesting that geographic distance is the most important factor structuring the populations. However, isonymy shows a lower correlation with geographic distance than migration matrices do. This difference can be attributed to the differing sensitivity of the methods for past migration events, and to genetic drift. Am. J. Hum. Biol. 18:676–690, 2006. © 2006 Wiley-Liss, Inc.

The Parametric Comparison Method (PCM, Guardiano & Longobardi 2005, Longobardi & Guardiano 2009) is grounded on the assumption that syntactic parameters are more appropriate than other traits for use as comparanda for historical reconstruction, because they are able to provide unambiguous correspondences and objective measurements, thus guaranteeing wide-range applicability and quantitative exactness. This article discusses a set of experiments explicitly designed to evaluate the impact of parametric syntax in representing historical relatedness, and performed on a selection of 26 contemporary Indo-European varieties. The results show that PCM is in fact able to correctly identify genealogical relations even from modern languages only, performing as accurately as lexical methods, and that its effectiveness is not limited by interference effects such as ‘horizontal’ transmission. PCM is thus validated as a powerful tool for the analysis of historical relationships not only on a long-range perspective (as suggested by Longobardi & Guardiano 2009), but even on more focused, though independently well-known domains.

Propylthiouracil (PTU) is known to induce antineutrophil cytoplasmatic antibody (ANCA) seropositivity; however, small vessel vasculitis (SVV) with pulmonary and renal involvement is rare. We present the case of an 81-year-old woman on PTU treatment due to toxic nodular goitre who developed alveolar hemorrhage and rapidly progressive glomerulonephritis. The authors highlight the importance of early recognising drug-induced pulmonary-renal syndrome (PRS) in order to avoid unnecessary tests, a delay in the diagnosis and evolution to end-stage kidney disease or life-threatening conditions.

Transposable elements (TEs) play an essential role in shaping eukaryotic genomes and in organismal diversification. It has been hypothesized that bursts of TEs may correspond to punctuated events of speciation (CArrier SubPopulation, Epi-Transposon, TE-Thrust hypotheses), thus it is expected that highly differentiated taxa bear highly active TEs in their genomes. To test this hypothesis, we designed two new parameters: the Relative Rate of Speciation (RRS) and the Density of Insertions (DI). These parameters measure, respectively, how much the taxa are undergoing an adaptive radiation and the magnitude of TE activity in their genomes. We call "hot" and "cold" those genomes with high and low DI, respectively. In this study, we test the association between RRS and DI ("Cold Genome Hypothesis") in Mammalian families and superorders. Furthermore, since the age of TEs can be inferred by calculating the distance from their respective consensus sequences, we subset TEs in different age classes in order to study the evolution of genomes at different time scales. Here, we consider "recent" TEs (divergence

Human populations are often dichotomized into “isolated” and “open” using cultural and/or geographical barriers to gene flow as differential criteria. Although widespread, the use of these alternative categories could obscure further heterogeneity due to inter-population differences in effective size, growth rate, and timing or amount of gene flow. We compared intra and interpopulation variation measures combining novel and literature data relative to 87,818 autosomal SNPs in 14 open populations and 10 geographic and/or linguistic European isolates. Patterns of intra-population diversity were found to vary significantly more among isolates, probably due to differential levels of drift and inbreeding. The relatively large effective size estimated for some population isolates challenges the generalized view that they originate from small founding groups. Principal component scores based on measures of intra-population variation of isolated and open populations turned out to be distributed along a sort of continuum, with an area of intersection between the two groups. Patterns of inter-population diversity were even closer, as we were able to detect some differences between population groups only for a few multidimensional scaling dimensions. Therefore, different lines of evidence suggest that dichotomizing human populations into open and isolated fails to capture the actual relations among their genomic features.

We briefly review the current status of anthropological and genetic studies of isolated populations and of their micro-evolutionary and biomedical applications, with particular emphasis on European populations. Thereafter, we describe the ongoing collaborative research project "Isolating the Isolates: geographic and cultural factors of human genetic variation" regarding Italian extant geographical and/or linguistic isolates, aimed at overcoming the limitations of previous studies regarding geographical coverage of isolates, number and type of genetic polymorphisms under study and suitability of the experimental design to investigate gene-culture coevolutionary processes. An interdisciplinary sampling approach will make it possible to collect several linguistic isolates and their geographic neighbours from Trentino, Veneto, Friuli, Tuscany, Sardinia and Calabria. This will be coupled with a shared genotyping strategy based on mitochondrial and Y-chromosomal polymorphisms. The results will be analyzed with a focus on the role of geographical and cultural factors in shaping human biodiversity. The aims of the project go beyond the simple reconstruction of the genetic structure and history of the examined groups. In fact, the study will also include an assessment for future bio-medical studies and the development of genetic and bio-demographic databases. Ethical and educational aspects are also foreseen by the project, by using informed consents together with disseminating activities in loco, completed by the creation of a dedicated web site for both scientific and public audiences.