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Cytokine gene polymorphisms have been found to be associated with a pre-disposition to a variety of diseases, including inflammatory and cancer diseases. The present study evaluated the influence of six cytokine gene polymorphisms on the level of genomic damage observed in peripheral blood lymphocytes from hospital pathologists chronically exposed to low doses of different xenobiotics. Lymphocytes from 50 pathologists and 50 control subjects were recruited and analyzed in Sister Chromatid Exchange (SCE) and Chromosomal Aberrations (CA) assays. The frequencies of six cytokine gene polymorphisms and their relationships with the cytogenetic damage levels were also evaluated. The results indicated that significant differences were found between pathologists and controls in terms of SCE frequency (p

The increased exposure to environmental pollutants has led to the awareness of the necessity for constant monitoring of human populations, especially those living in urban areas.This study evaluated the background levels of genomic damage in a sample of healthy subjects living in the urban area of Turin (Italy). The association between DNA damage with age, sex and GSTs polymorphisms was assessed.One hundred and one individuals were randomly sampled. Sister Chromatid Exchanges (SCEs) and Chromosomal Aberrations (CAs) assays, as well as genotyping of GSTT1 and GSTM1 genes, were performed.Mean values of SCEs and CAs were 5.137 ± 0.166 and 0.018 ± 0.002, respectively. Results showed age and gender associated with higher frequencies of these two cytogenetic markers. The eldest subjects (51-65 years) showed significantly higher levels of genomic damage than younger individuals. GSTs polymorphisms did not appear to significantly influence the frequencies of either markers.The CAs background frequency observed in this study is one of the highest reported among European populations. Turin is one of the most polluted cities in Europe in terms of air fine PM10 and ozone and the clastogenic potential of these pollutants may explain the high frequencies of chromosomal rearrangements reported here.

Occupational exposure to anaesthetic gases is one of the major hazards to healthcare personnel. We evaluated the cytogenetic effects of chronic exposure to low concentrations of anaesthetic gases in operating theatres. The study included 21 anesthetists and 21 control subjects who matched in age and gender. Chromosome aberrations (CAs) and sister chromatid exchanges (SCEs) assays were performed. All subjects were also genotyped for glutathione S-transferase T1 (GSTT1) gene polymorphisms. Significant differences were found between exposed and controls in terms of SCEs frequency (P = 0.001) and replication index value (P = 0.005), but not in terms of CAs (P = 0.201) and aberrant cells (P = 0.227) frequencies. Regression analyses indicated that age and the years of employment did not influence the level of chromosomal damage in both groups. Finally, among anesthetists, GSTT1 null individuals showed a significant higher frequency of SCE with respect to GSTT1-positive subjects.

13 pages; International audience; The family Galagidae (African galagos or bushbabies) comprises five genera: EuoticusGray, 1872; GalagoGeoffroy Saint-Hilaire, 1796; GalagoidesSmith, 1833; OtolemurCoquerel, 1859; and SciurocheirusGray, 1872, none of which is regarded as monotypic, but some (Euoticus and Otolemur) certainly qualify as oligotypic. We argue for the recognition of a sixth genus, if the taxonomy is to reflect galagid evolution accurately. Genetic evidence has consistently demonstrated that the taxa currently referred to the genus Galagoides are not monophyletic but form two clades (a western and an eastern clade) that do not share an exclusive common ancestor; we review 20 years of genetic studies that corroborate this conclusion. Further, we compare vocalizations emitted by small-bodied galagids with proposed phylogenetic relationships and demonstrate congruence between these data sets. Morphological evidence, however, is not entirely congruent with genetic reconstructions; parallel dwarfing in the two clades has led to convergences in skull size and shape that have complicated the classification of the smaller species. We present a craniodental morphometric analysis of small-bodied galagid genera that identifies distinguishing characters for the genera and supports our proposal that five taxa currently subsumed under Galagoides (Galagoides cocos, Galagoides granti, Galagoides orinus, Galagoides rondoensis and Galagoides zanzibaricus) be placed in their own genus, for which we propose the name Paragalago.

Alcohol abuse is a significant public health issue. Epidemiological studies conducted on different populations consistently showed that consumption of alcoholic beverages is associated with cytogenetic damages and higher risk for several types of cancer. However, the interpretation of many cytogenetic studies resulted complicated because some confounding factors, such as smoking habit, are not always taken into account. In the present study, the frequency of sister chromatid exchanges (SCEs), chromosome aberrations (CAs) and micronuclei (MNs) in cultured human lymphocytes was assessed on 15 alcoholic and 15 non-alcoholic control male subjects. Moreover, considering the implication of the Glutathione S-transferases gene polymorphisms in the genetic susceptibility to alcoholic liver diseases, we considered an important issue to evaluate the relationship between these gene polymorphisms and the cytogenetic damage. In our sample we exclusively considered individuals that did not smoke nor consume drugs for a period of at least 2 years prior to the analysis. Statistically significant differences were found between alcoholics and controls in the frequency of SCEs/cell (P = 0.001), RI value (P = 0.001), CAs (P = 0.002) and CAB (P = 0.002). Vice versa, no significant differences were found between alcoholics and controls in terms of MNs frequency and CBPI value. In both samples, no statistically significant association was found between the analysed GSTs gene polymorphisms and the frequencies of MNs, SCEs and CAs. Finally, among alcoholics we found a positive correlation between SCEs and CAs frequencies and the duration of alcohol abuse.

Patterns of genetic variation among geographically and ethnically diverse African popula- tions have been under-represented in human genetics studies despite their importance for describing the evolutionary history of modern human populations. We conducted a study on 133 individuals, be- longing to four northern Ivorian ethnic groups, based on the allele distribution of 11 Alu insertion loci, and compared the results with other African populations. All loci proved to be polymorphic in all ethnic groups, with the exception of HS2.43 and HS3.23, which were fixed for the absence and for the presence, respectively, of the Alu element. No significant departure from Hardy-Weinberg equilibrium was found among polymorphic loci, except for TPA25 loci in the Baoule and Bete groups. Average heterozygosity (0.193 ± 0.042) was lower than that observed for the same loci in other African populations and the FST value among ethnic groups for all loci was also notably low (0.0456). Multidimensional scaling analysis clearly separated Ivorians from other African samples, while in the neighbor-joining tree this population represented a basal branch of the tree, close to the hypothetical ancestral lineage. The picture emerging from our analyses reveals a conspicuous genetic homogeneity among Dioula, Senoufos, Boule, and Bete despite their sociocultural subdivision. Moreover, this northern Ivory Coast population, as a whole, turns out to be relatively isolated from the other African populations, possibly as a consequence of local patterns of population history, limited migration rates, and random genetic drift.

In the present study, we evaluated the induced genome damage in peripheral blood lymphocytes from a sample of nurses occupationally exposed to low doses of different chemicals. A comprehensive multi-biomarker approach using cytogenetic endpoints was employed for analyzing chromosomal aberrations (CAs) and sister chromatid exchange (SCE) assay. The study included 20 nurses and 20 control subjects matched in age, gender and smoking habits. Nurses were exposed to different chemicals, such as cytostatic drugs, anaesthetics, formaldehyde and other sterilizing gases. Significant differences were found between exposure group and control group in terms of SCEs frequency ( p < 0.001) but not in terms of replication index value ( p = 0.845) and CAs ( p = 0.236). Regression analyses indicated that the age and the exposure years did not influence the amount of the chromosomal damage among nurses. Vice versa, among controls, a positive correlation was found between the number of SCEs and age. In conclusion, our results suggest that a continuous long-term exposure to low doses of chemicals could result in increased levels of SCEs among nurses. This data emphasize the importance of biomonitoring nurses and other hospital workers handling drugs.

Strepsirhines comprise 10 living or recently extinct families, ≥50% of extant primate families. Their phylogenetic relationships have been intensively studied, but common topologies have only recently emerged; e.g. all recent reconstructions link the Lepilemuridae and Cheirogaleidae. The position of the indriids, however, remains uncertain, and molecular studies have placed them as the sister to every clade except Daubentonia, the preferred sister group of morphologists. The node subtending Afro-Asian lorisids has been similarly elusive. We probed these phylogenetic inconsistencies using a test data set including 20 strepsirhine taxa and 2 outgroups represented by 3,543 mtDNA base pairs, and 43 selected morphological characters, subjecting the data to maximum parsimony, maximum likelihood and Bayesian inference analyses, and reconstructing topology and node ages jointly from the molecular data using relaxed molecular clock analyses. Our permutations yielded compatible but not identical evolutionary histories, and currently popular techniques seem unable to deal adequately with morphological data. We investigated the influence of morphological characters on tree topologies, and examined the effect of taxon sampling in two experiments: (1) we removed the molecular data only for 5 endangered Malagasy taxa to simulate ‘extinction leaving a fossil record'; (2) we removed both the sequence and morphological data for these taxa. Topologies were affected more by the inclusion of morphological data only, indicating that palaeontological studies that involve inserting a partial morphological data set into a combined data matrix of extant species should be interpreted with caution. The gap of approximately 10 million years between the daubentoniid divergence and those of the other Malagasy families deserves more study. The apparently contemporaneous divergence of African and non-daubentoniid Malagasy families 40-30 million years ago may be related to regional plume-induced uplift followed by a global period of cooling and drying.

Endogenous nitric oxide (NO) is a molecule synthesized by endothelium nitric oxide synthase encoded by the ecNOS gene that plays an important role in regulating the systemic, cardiac and pulmonary circulation. Impairment in NO synthesis has been associated to many cardiovascular disorders, including coronary artery disease and hypertension. We investigated the frequency of the intron 4 VNTR ecNOS gene polymorphism in an Ivorian and an Italian population. The frequencies of the ecNOSb/b, ecNOSa/b and ecNOSa/a genotypes were 0.422, 0.476, and 0.102, respectively, for the Ivorian sample, and 0.712, 0.269, and 0.019, respectively, for the Italian population. The frequencies of ecNOS4b and ecNOS4a alleles were 0.660 and 0.340, respectively, for the Ivorian group, and 0.847 and 0.153, respectively, for the studied Italian population. Genotype frequencies were in Hardy-Weinberg equilibrium in both populations. The Ivorian population showed a significantly higher frequency of the ecNOS4a allele compared to other African and non-African populations, while the Italian sample confirmed the high genetic homogeneity of this polymorphism among Europeans. The maldistribution of endothelial ecNOS polymorphisms between populations could be the results of differential exposure to selection pressures in Africa and during the out-of-Africa expansion.

Summary Cytokine polymorphisms influence the outcomes of parasitic diseases and vary among populations because of their different evolutionary histories and selective pressures imposed by host–pathogen interactions. In this frame, we investigated the frequencies of TNF-α (-308G/A), TGF-β1 (codon 10C/T, codon 25C/G) and IL-10 (-1082A/G) SNPs in 133 individuals from Ouangolodougou, a rural village in Northern Ivory Coast, where malaria and other parasitic diseases are endemic. The SNPs alleles were determined by ARMS-PCR methodology. Allele frequencies of the SNPs investigated were as follows: IL 10 -1082G = 0.741 and -1082A = 0.259; TGF-β1 Codon 10 C = 0.835 and T = 0.165; TGF-β1 Codon 25 G = 0.782 and C = 0.218. For the TNF-α gene, we found high frequencies of the -308A allele (0.305) and heterozygote genotypes (0.594), with a consequent deviation from the Hardy–Weinberg equilibrium. The high heterozygosity at the TNF-α locus suggests a possible selective advantage of the heterozygote genomes, associated with intermediate levels of TNF-α expression, against the infectious agents endemic in Western Africa.

In vitro effects of different concentrations of Thiram were tested on human lymphocytes to determine, by means of the chromosome aberrations (CAs) assay, whether this fungicide could induce clastogenic damage. Evidences of the effect of Thiram on human lymphocytes were limited to sister chromatid exchange, micronuclei formation, and comet assays. We evaluated 0.01, 0.1, 1.2, and 12.0 μg/mL of Thiram, where 0.01 μg/mL represent the acceptable daily intake dose set by the World Health Organization and the Food and Agriculture Organization for fruit and vegetables, whereas 0.1, 1.2, and 12.0 μg/mL are its multiple values. Results indicated that human lymphocytes treated in vitro with Thiram at concentrations of 1.20 and 12.0 μg/mL significantly increased CAs frequency, compared with the negative control, whereas at lower concentrations (0.01 and 0.1 μg/mL), this effect was not observed. However, Thiram showed a clastogenic effect also at the concentration value of 1.2 μg/mL that represents a lower value with respect to the residue limits found in Italy for grapes, strawberries, potatoes, tobacco, and other fruits and vegetables. Finally, according to some evidence obtained from the study of other fungicides, Thiram produced a significant reduction in the mitotic index with increasing concentration.

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.

Thiabendazole is a benzimidazole-derived compound widely employed in agriculture as anthelmintic and fungicide. It is also used as a post-harvest fungicide for imported citrus fruits during transport and storage, and thus, it was found at high concentration in fruits and vegetables. Several studies have analyzed the potential genotoxic effect of thiabendazole on different prokaryotic and eukaryotic systems, but in many cases, results were contradictory. In the present study, the genotoxic potential of thiabendazole have been evaluated, by micronucleus assay in freshly isolated human peripheral lymphocytes. The cells were incubated with 0.5, 5 and 50 μg/ml concentrations of the tested substance for 48 h at 37°C. Mitomycin C at final concentration of 0.01 μg/ml culture was used as a positive control. The results indicated that the thiabendazole significantly (P

Polymorphism frequencies of the dopamine transporter gene (DAT1) hypervariable region have been analyzed in a sample of Italian and Ivory Coast individuals. The 3' untranslated region (UTR) of DAT1 includes a variable number of tandem repeats (VNTR) of a 40-bp monomer, ranging from 3 to 13 repeats in Caucasian and African populations. In our sample we found alleles with 3 to 16 repeats, and the most common alleles were the 10-repeat (DAT1*10) and the 9-repeat (DAT1*9) alleles. We also found two rare alleles in the Italian population and four in the Ivory Coast population. For the first time the new allele DAT1*16 is described in the Ivorians. The Ivory Coast population was not in Hardy-Weinberg equilibrium for the DAT1 locus because of a deficit of heterozygote genotypes. The observed heterozygosity of the Ivorian population was half that of the Italians. The lower observed heterozygosity and deviation from Hardy-Weinberg equilibrium could be the result of microevolutionary trends, such as genetic drift and/or inbreeding, acting on the relatively small and isolated population sampled for this study, although some sort of selective pressures acting against the shorter alleles cannot be excluded. This evidence, in association with the reduced polymorphism shown by the DAT1 VNTR compared to other VNTRs, seems to indicate that the DAT1 locus may be under some selective pressure.

We analyzed the frequencies of eight human polymorphic Alu insertion loci in population samples from five towns in North-West Italy: Postua, Cavaglià, Biella, Torino, and Genova. All loci under scrutiny were found to be polymorphic in all samples, with the two exceptions of locus A25 in Postua, which was fixed for the absence of the Alu element, and APO in Genova, where the Alu insertion was fixed. Heterozigosity values were highly variable in all loci. F(ST) values for all loci indicate that most of the variability is found within populations, while between population variability is lower. In the multidimensional scaling (MDS) analysis plot, the studied populations are separated from the main group represented by European populations. The Postua sample is set apart also from neighboring towns as Cavaglià and Biella, confirming previous observations of the demographic isolation of this population.

Occupational exposure to anaesthetic gases is one of the major hazards to healthcare personnel. We evaluated the cytogenetic effects of chronic exposure to low concentrations of anaesthetic gases in operating theatres. The study included 21 anesthetists and 21 control subjects who matched in age and gender. Chromosome aberrations (CAs) and sister chromatid exchanges (SCEs) assays were performed. All subjects were also genotyped for glutathione S-transferase T1 (GSTT1) gene polymorphisms. Significant differences were found between exposed and controls in terms of SCEs frequency (P = 0.001) and replication index value (P = 0.005), but not in terms of CAs (P = 0.201) and aberrant cells (P = 0.227) frequencies. Regression analyses indicated that age and the years of employment did not influence the level of chromosomal damage in both groups. Finally, among anesthetists, GSTT1 null individuals showed a significant higher frequency of SCE with respect to GSTT1-positive subjects.

Diphenylamine (DPA) is an antioxidant compound that occurs naturally in several vegetables. It is widely applied in agriculture for preservation of the quality of apples and pears, and used for controlling superficial scald, a disorder that renders fruits of a number of apple cultivars unfit for the market. Because of its anti-oxidative properties, DPA also has several industrial applications. The potential genotoxic effect of DPA on human lymphocytes has previously been investigated in only two studies, which focused on detection of chromosome aberrations and sister chromatid exchange, respectively. In the present analysis, we evaluated micronucleus (MN) formation in freshly isolated human peripheral lymphocytes exposed to different concentrations (0.625, 1.25, 2.50, 5.0 and 10.0μg/ml) of DPA. Peripheral venous blood was collected from ten healthy subjects, and a total of 10,000 bi-nucleated cells were analyzed. Results indicated that DPA significantly increased the micronucleus frequency at concentrations of 1.25μg/ml and higher. Significant differences in the MN frequency were also found between the lower dose (0.625μg/ml) and all other doses tested, with the exception of 1.25μg/ml. Our results indicate a potential cytogenetic effect of DPA on human cells in vitro and require further in vivo studies to clarify the actual genotoxicity of this compound and the consequent risks for human health.

Aim Small body size in Madagascar’s dwarf and mouse lemurs (Cheirogalei-dae) is generally viewed as primitive. We investigated the evolution of bodysize in this family and in its sister-taxon, the Lepilemuridae, from phylogenetic,ontogenetic and adaptive perspectives.Location Madagascar.Methods We used a phylogenetic method to reconstruct the evolution ofbody size in lemurs, and allometric regression models of gestation periods andstatic and growth allometries in Cheirogaleidae and Lepilemuridae to test thehypothesis that dwarfing occurred as a result of truncated ontogeny (progene-sis). We also examined adaptive hypotheses relating body size to environmentalvariability, life history, seasonality of reproduction, hypothermy (use of tor-por), and a diet rich in plant exudates.Results Our results indicated that cheirogaleids experienced at least four inde-pendent events of body size reduction from an ancestor as large as livingLepilemuridae, by means of progenesis. Our interpretation is supported by thepaedomorphic appearance and parallel ontogenetic trajectories of the dwarftaxa, as well as their very short gestation periods and increased fecundity.Lepilemur species that occupy more predictable environments are significantlylarger than those occupying unpredictable habitats.Main conclusions Cheirogaleidae appear to be paedomorphic dwarfs, a con-sequence of progenesis, probably as an adaptation to high environmentalunpredictability. Although the capacity to use hypothermy is related to smallbody size, this advantage is unlikely to have driven dwarfing in cheirogaleids.We propose that gummmivory/exudativory co-evolved with body size reduc-tion in this clade, probably from a folivorous ancestor. Their small size isderived, and their suitability as models for the ‘ancestral primate’ is thereforedubious.KeywordsAncestor reconstruction, body size evolution, dwarfism, hypervariability,island rule, lemurs, Lepilemuridae, Madagascar, ontogeny, progenesis.INTRODUCTIONThe currently popular model of a small, nocturnal primateancestor was largely inspired by an extant family of Malagasylemurs, the Cheirogaleidae, which includes the smallest livingprimates (30–400 g). Mouse lemurs (Microcebus spp.), inparticular, are believed to have retained a series of primitivecharacters associated with their very small size (30–100 g):nocturnality, insectivorous/omnivorous diet, fast life history,nest-building, altricial infants carried by mouth, solitarysocial structure, and a promiscuous mating system (Charles-Dominique & Martin, 1970; Cartmill, 1972, 1974, 1992;Martin, 1972, 1990; Kappeler, 1998; Wimmer et al., 2002;Gebo, 2004; Scheumann & Zimmermann, 2008; Montgomeryet al., 2010; but see Soligo, 2006; Masters et al., 2007; Soligo& Martin, 2007). This interpretation is frequently associated

Numerous phylogenetic hypotheses have been advanced for the Malagasy lemuriform radiation, drawing on data from morphology, physiology, behaviour and molecular genetics. Almost all possible relationships have been proposed, and most nodes have been contested. We present a phylogenetic analysis, using several analytical methods, of a partial sequence from the 12S rRNA mitochondrial gene. This gene codes for the small ribosomal subunit, and functional constraints require that the secondary structure of the molecule is strongly conserved, which in turn exerts constraints on the primary sequence structure. Although previous studies have suggested a very wide range of phylogenetic applicability for this molecule, our results indicate that it is most useful in strepsirrhine primates for estimating relationships among genera within families and among relatively recently diverged families (mean sequence divergence about 11%). Relationships among families separated by larger genetic distances (>12% divergence; e.g. Cheirogaleidae, Daubentoniidae, Megaladapidae) are difficult to resolve consistently. Our data show strong support for an Indridae–Lemuridae sister group and for monophyly of the Lemuridae with Varecia as the sister to all other lemurids. They also support, albeit less strongly, sister group relationships between Lemur andHapalemur within the Lemuridae and between Propithecus and Avahi in the Indridae.

Eleven human-specific Alu insertion polymorphic loci (ACE, APO, A25, B65, D1, FXIIIB, HS2.36, HS2.43, HS3.23, PV92, TPA25) were analyzed in a population sample of 263 unrelated healthy individuals native of Piedmont (North-Western Italy). Alu insertion frequency and heterozygosity values were highly variable in all loci, except for the HS2.36 locus.

Systematic relationships among the African bush babies are not well understood. Various generic designations are currently in use. Some authors refer all species to a single genus (Galago), while others recognize ≤4 genera. Phylogenetic reconstructions based on morphology, karyology, allozymes and vocal repertoires have generated inconsistent hypotheses of relationship. We analyzed partial sequences of three mitochondrial genes (270 bp from cytochrome b, 387 bp from 12S rRNA, and 241 bp from 16S rRNA, total 898 bp) to resolve some uncertainties. We sampled taxa from each of three genera: Galagoides alleni, G. demidoff and G. zanzibaricus; Galago senegalensis, G. gallarum and G. moholi; and Otolemur crassicaudatus and O. garnettii. Outgroup taxa were Asian lorises: Nycticebus coucang and Loris tardigradus. We analyzed sequences separately and in combination, and modeled phylogenies using maximum parsimony, weighted parsimony, neighbor-joining and maximum-likelihood. We obtained some variation in phylogenetic inference depending on sequence and analytical method, but the results also gave strong phylogenetic signals. The lesser bush babies invariably formed a clade, showing evidence of very recent radiation. The greater bush babies also formed a clade, marked by somewhat greater interspecific genetic distances, which was allied with Galagoides alleni in most instances. Galagoides demidoff and G. zanzibaricus are not closely related, though both diverged early in the history of the group. A genus comprising Galagoides alleni, G. demidoff and G. zanzibaricus is not supported by our data. The most likely alliance for Galagoides alleni is within the genus Otolemur. Of the three partial sequences employed in the study, 16S rRNA gave the most consistent results, while cytochrome b was least informative.

Cannabinoids, the bioactive constituents of Cannabis sativa, and endocannabinoids, among which the most important are anandamide and 2-arachidonoylglycerol, control various biological processes by binding to specific G protein-coupled receptors, namely CB1 and CB2 cannabinoid receptors. While a vast amount of information on the mammalian endocannabinoid system does exist, few data have been reported on bony fish. In the goldfish, Carassius auratus, the CB1 receptor has been cloned and its distribution has been analyzed in the retina, brain and gonads, while CB2 had not yet been isolated. In the present paper we cloned the goldfish CB2 receptor and show that it presents a quite high degree of amino acid identity with zebrafish Danio rerio CB2A and CB2B receptors, while the percentage of identity is lower with the pufferfish Fugu rubripes CB2, as also confirmed by the phylogenetic analysis. The sequence identity becomes much lower when comparing the goldfish and the mammalian CB2 sequences; as for other species, goldfish CB2 and CB1 amino acid sequences share moderate levels of identity. Western-blotting analysis shows the CB2 receptor as two major bands of about 53 kDa and 40 kDa, and other faint bands with apparent molecular masses around 70 kDa, 57 kDa and 55 kDa. Since the distribution of a receptor could give information on its physiological role, we evaluated and compared CB1 and CB2 mRNA expression in different goldfish organs by means of quantitative Real-Time PCR. Our results show that both CB1 and CB2 receptors are widely expressed in the goldfish, displaying some tissue specificities, thus opening the way for further functional studies on bony fish and other non-mammalian vertebrates.

Biogeographia vol. XXX - 2011 (Pubblicato il 23 dicembre 2011) La Biogeografia della Sicilia Pattern filogeografici a confronto in specie paleartiche di Coleotteri Scarabaeoidea ASTRID PIZZO, DANIELE SILVESTRO, MASSIMILIANO DELPERO, PIERO CERVELLA, CLAUDLA PALESTRINI, ANTONIO ROLANDO Dzjmrtimento di Biologia Animale e a’e[[’U0m0, Universita‘ degli studi di Torino, via Accczdemia Albertina I3, I 0123 Torino (Italy); e—mzzz'Z: ast7*z'd.pz'zzo @um'to.it Keywords: historical biogeography, CO1, ITS2, Nested Clade Analysis, Likelihood-based methods. SUMMARY The present study aims to compare the population structures and the phylogeographic patterns of species be- longing to two different paleartic genus of Coleopteta Scarabaeidae (77ypocopris and Om‘/Jop/azzgms.s.), whose dis- tributions largely overlap, but whose ecological requirements are deeply different. We tested if mitochondrial poly- morphisms (COI gene) of three species of the genus Yiypocopris, I zzlpizzz/5 (Hagenbach), Yipyremzeux (Charpentier) and T z1ermzli5(L.) reflect morphological and geographic subspecies previously recognised; results showed high con- sistency between molecular and morphological/ geographical data, suggesting that the subspecies can be considered as independent evolutionary units. An additional analysis performed with the help of a likelihood based method for historical biogeography allowed us to evaluate the relative influence of demographic factors like genic flow or drift in shaping the particular phylogeographic patterns observed. Both nested clade analysis and likelihood—based historical reconstruction suggested that Sicilian population of T pyremzeu: separated from Peninsular populations only recently and this is likely due to vicariance mechanisms. On the contrary, Ont/rap/mgu: t(Z1I7‘ZlS(SCl’1I'Cl)C[') and O. illyriczts (Scopoli) did not show any phylogeograhic pattern using COI, because of very low (0. tzzurus) or com- pletely lacking (O. z'll}IrirzLs) haplorype polymorphism. A feeble and little informative phylgeographic structure was found using sequences from ITS2. An estimate of the time of interspecific divergence in each genus located speciation events in a time- frame pleaceble in Pliocene. Differences between the patterns observed are interpreted in the light of the different ecological requirements of the species of the two genus. INTRODUZIONE Il presente lavoro si propone di confrontare la struttura di popolazione ed i pattern filogeografici di specie appartenenti a due diversi generi di Coleotteri Scarabaeoidea, T73/pocopris e Ont/cop/mgus (s.s.), che realizzano corologicamen— te areali in larga parte sovrapposti. ll genere Trypocopris comprende sei specie coprofaghe tipiche di pascoli e fo— reste di media ed alta quota: T alpinus (Hagenbach), T azmedei (Fairrnaire), T pyremzeus (Charpentier), T 7/ermzlis (Linnaeus), Tfitlgidus (Motschulsky) e T

The isonymic method has been generally accepted in population genetic studies and surnames have been successfully used to investigate human populations as if they were genetic markers associated to the Y chromosome. In this study we analysed the microevolution dynamics of Postua, a mountain village of North Western Italy, by means of demographic methods. The uniqueness of this community is due to its past geographical and cultural isolation and to the high frequency of marriage between relatives. During the study period considered (1640-1989) the population underwent several fluctuations in size and other demographic parameters such as the endogamy, isonimy and consanguinity rates. Until the first half of the XIX century Postua appears to be a village characterised by a closed and isolated community, with high endogamy (80-90%) and isonimy (up to 34.4%). Only at the beginning of the XX century, when the population started to be subjected to significant immigration fluxes, data show a progressive reduction of the isolation. The population showed two demographic peaks, the first around the second half of the XVIII century (1639 inhabitants) and the second at the end of the XIX century (1464 inhabitants). The S/Nratio was low (0.2-0.3) and relatively constant until the beginning of the last century, and only in the last three decades of the XX century, when the population was subjected to immigration, Postua showed a significant increase in the S/Nratio values (to about 0.9). The surname frequency was constant until the 1850 when almost all surnames were the same as those already present in the XVII century. From the first half of the XIX century, the founder surnames decreased, whereas new surnames started to increase and became persistent in the population.

The COL1A2 gene is one of the two genes encoding for the polypeptides of type I collagen, that represent the major constituent of skin, bone, tendons, ligaments, blood vessels, dentin, and many interstitial tissues. The COL1A2 gene deletion polymorphism has been considered as an informative anthropological marker for describing geographically distinct human populations. Aim of the present study was to investigate the genetic variability at COL1A2 locus in two populations, one belonging to Ouangolodougou (n = 133), a village placed in Northern Ivory Coast, and one belonging to Lecco (n = 70), a village placed in a Northern Italy region called Lombardy. For each sampled population no data are available in literature. We reported, for the first time, the presence of the deleted allele among Ivorians (0.06), confirming the low deletion frequency of this polymorphism found in Sub Saharan Africa by other authors. For Italians, frequency analysis of this gene polymorphism (0.28 for the deleted allele) did not show any significant level of differentiation with respect to other Italian and European populations.

Summary Distribution of some erythrocyte polymorphisms was investigated in five Northern Cote d’Ivoire ethnic groups. For the ABO blood group system, the frequencies of alleles p, q and r were 0.119, 0.150 and 0.731, respectively, while the frequencies of alleles D and d of the Rh blood group system were 0.726 and 0.274, respectively. These values are consistent with published data, while the high incidence of HbAS genotype could result from microevolutionay trends acting on this relatively small population. No 27-bp Southeast Asian ovalocytosis gene deletion was found in the sample.

The present work attempts to determine the distribution of GSTM1 and GSTT1 genotype and allele frequencies in a sample of northern Italian population, and to examine the age-related association of these polymorphisms. The frequencies of the deleted GSTM1 and GSTT1 genotypes were 0.357 and 0.169, respectively. GSTT1 null-genotype frequency found in this work further confirms data obtained in previous studies of Italian populations, while for GSTM1 deletion our sample showed a significantly lower-frequency value with respect to other Italian and European populations, with exception of the Greek. No significant differences occurred between men and women in the frequency of each gene, which could suggest that, in the studied sample, there were no sex differences in susceptibility to diseases and in detoxifying enzymes such as GSTs. In order to analyze the relationship between GSTT1 and GSTM1 gene polymorphisms and age, the sample was subdivided into four age groups: 1-30 years (n = 101); 31-50 years (n = 160); 51-79 years (n = 144) and 80-100 years (n = 58). This age-related analysis showed a decreasing gradient of GSTs null genotypes between younger and older groups, with the 80-100 age group showing a significantly lower frequency of GSTT1 null, GSTM1 null and GSTT1/GSTM1 double null genotypes with respect to the younger group.

The phylogeny of the Afro-Asian Lorisoidea is controversial. While postcranial data attest strongly to the monophyly of the Lorisidae, most molecular analyses portray them as paraphyletic and group the Galagidae alternately with the Asian or African lorisids. One of the problems that has bedevilled phylogenetic analysis of the group in the past is the limited number of taxa sampled for both ingroup families. We present the results of a series of phylogenetic analyses based on 635 base pairs (bp) from two mitochondrial genes (12S and 16S rRNA) with and without 36 craniodental characters, for 11 galagid and five lorisid taxa. The outgroup was the gray mouse lemur (Microcebus murinus). Analyses of the molecular data included maximum parsimony (MP), neighbor joining (NJ), maximum likelihood (ML), and Bayesian methods. The model-based analyses and the combined “molecules+morphology” analyses supported monophyly of the Lorisidae and Galagidae. The lorisids form two geographically defined clades. We find no support for the taxonomy of Galagidae as proposed recently by Groves [Primate Taxonomy, Washington, DC: Smithsonian Institution Press. 350 p, 2001]. The taxonomy of Nash et al. [International Journal of Primatology 10:57–80, 1989] is supported by the combined “molecules+morphology” analysis; however, the model-based analyses suggest that Galagoides may be an assemblage of species united by plesiomorphic craniodental characters. Am. J. Primatol. 69:6–15, 2007. © 2006 Wiley-Liss, Inc.

Lemuroid phylogeny is a source of lively debate among primatologists. Reconstructions based on morphological, physiological, behavioural and molecular data have yielded a diverse array of tree topologies with few nodes in common. In the last decade, molecular phylogenetic studies have grown in popularity, and a wide range of sequences has been brought to bear on the problem, but consensus has remained elusive. We present an analysis based on a composite molecular data set of approx. 6,400 bp assembled from the National Center for Biotechnology Information (NCBI) database, including both mitochondrial and nuclear genes, and diverse analytical methods. Our analysis consolidates some of the nodes that were insecure in previous reconstructions, but is still equivocal on the placement of some taxa. We conducted a similar analysis of a composite data set of approx. 3,600 bp to investigate the controversial relationships within the family Lemuridae. Here our analysis was more successful; only the position of Eulemur coronatus remained uncertain.

With the aim of further investigating the molecular evolution of beta defensin genes, after having analysed beta defensin 1 (DEFB1) in humans and several nonhuman primate species, we have studied the evolution of the beta defensin 2 gene (DEFB2), which codifies for a peptide with antimicrobial and chemoattractant activity, in humans and 16 primate species. We have found evidence of positive selection during the evolution of orthologous DEFB2 genes at two points on a phylogenetic tree relating these primates: during the divergence of the platyrrhines from the catarrhines and during the divergence of the Cercopithecidae from the Hylobatidae, Great Apes and humans. Furthermore, amino acid variations in Old World Monkeys seem to centre either on residues that are involved in oligomerisation in the human molecule, or that are conserved (40-80%) in beta-defensins in general. It is thus likely that these variations affect the biological function of the molecules and suggest that their synthesis and functional analysis might reveal interesting new information as to their role in innate immunity.

Degenerate PCR primers were used to amplify a conserved gene portion coding chitin synthase from genomic DNA of six species of ectomycorrhizal truffles. DNA was extracted from both hypogeous fruitbodies and in vitro growing mycelium of Tuber borchii. A single fragment of about 600 bp was amplified for each species. The amplification products from Tuber magnatum, T. borchii and T. ferrugineum were cloned and sequenced, revealing a high degree of identity (91.5%) at the nucleotide level. On the basis of the deduced amino acid sequences these clones were assigned to class II chitin synthase. Southern blot experiments performed on genomic DNA showed that the amplification products derive from a single copy gene. Phylogenetic analysis of the nucleotide sequences of class II chitin synthase genes confirmed the current taxonomic position of the genus Tuber, and suggested a close relationship between T. magnatum and T. uncinatum.