Red-cell enzyme polymorphisms in the Reggio Calabria province (Italy)

Acid phosphatase (ACP1), adenosine deaminase (ADA), esterase D (ESD), glyoxalase 1 (GLO1), phosphogluconate dehydrogenase (PGD) and phosphoglucomutase 1 and 2 (PGM1 and PGM2) polymorphisms have been studied in the Reggio Calabria province (Southern Italy). The ACP1*A allele and ADA, GLO1, PGD and PGM1 systems have frequencies similar to those reported for Sicily and Southern Italy.     

Red cell and serum protein polymorphisms in Sardinia

Four Sardinian population samples, from the provinces of Cagliari, Oristano, Nuoro and Sassari, were studied with regard to the erythrocyte enzyme systems ACP, ESD, PGM1, ADA, AK, 6PGD and Dia, and to the serum protein systems GC and C3. The findings showed a rather high degree of genetic heterogeneity of the Sardinians compared to the other populations from the Mediterranean area (Continental Italy, Sicily, Spain, North Africa).     

Genetic structure of western Sicily

The distribution of AB0, RH, KELL, ADA, GLO1, AK, 6PGD, ESD, ACP, G6PD, C3, GC and APOB markers were studied in a sample coming from the province of Trapani (western Sicily, Italy). The results were discussed in the contest of the Mediterranean populations. Our analysis confirms the existence of a certain genetic differentiation within Sicily and suggests a strong heterogeneity between our sample and the North African populations. Moreover our data point out the genetic affinity among Sicily, Southern Italy and Greece.     

Properdin factor B polymorphism in continental Italy and Sardinia

Summary A sample of healthy unrelated individuals (882 from Continental Italy and Sicily, and 139 from Sardinia) were typed for HLA and Bf polymorphisms. Bf gene frequencies in Continental Italy and Sicily show an intermediate position among European populations, with Lapps on one side and Basques on the other side; while a very peculiar pattern is observed among Sardinians, with an impressive similarity with French Basques and with the highest F1 gene frequency so far observed. The HLA: Bf gametic associations in Italy and Sardinia are also reported, which confirm the different ethnic background of these populations.This work was supported by Centro di Immunogenetica ed Istocompatibilità, C.N.R., Torino, Italy and by a grant of Ministero Pubblica Istruzione (M.P.I., Cap. 8551/1980).     

The HLA system in Italy

4,902 Italians were typed for HLA-A antigens, 4,721 for HLA-B and 1,503 for HLA-C. The samples, which were composed of unrelated, healthy individuals born in Italy, were used for estimating HLA-A, HLA-B and HLA-C gene frequencies with the maximum-likelihood method. Different Italian regions showed significant differences in the HLA alleles, providing further evidence for the genetic heterogeneity of the Italian population. HLA gene frequencies place continental Italy and Sicily in a position which is similar to that of other Mediterranean populations, whereas the genetic isolation of Sardinia is quite evident. The most significant linkage disequilibrium values found in the Italian population (except for Sardinia) were in agreement with those observed in other Caucasian populations. The difference between Northern and Southern Italy and between continental Italy and Sardinia was emphasized by the linkage disequilibrium values and by the principal-component analysis as well.     

An Ancient Mediterranean Melting Pot: Investigating the Uniparental Genetic Structure and Population History of Sicily and Southern Italy

Due to their strategic geographic location between three different continents, Sicily and Southern Italy have long represented a major Mediterranean crossroad where different peoples and cultures came together over time. However, its multi-layered history of migration pathways and cultural exchanges, has made the reconstruction of its genetic history and population structure extremely controversial and widely debated. To address this debate, we surveyed the genetic variability of 326 accurately selected individuals from 8 different provinces of Sicily and Southern Italy, through a comprehensive evaluation of both Y-chromosome and mtDNA genomes. The main goal was to investigate the structuring of maternal and paternal genetic pools within Sicily and Southern Italy, and to examine their degrees of interaction with other Mediterranean populations. Our findings show high levels of within-population variability, coupled with the lack of significant genetic sub-structures both within Sicily, as well as between Sicily and Southern Italy. When Sicilian and Southern Italian populations were contextualized within the Euro-Mediterranean genetic space, we observed different historical dynamics for maternal and paternal inheritances. Y-chromosome results highlight a significant genetic differentiation between the North-Western and South-Eastern part of the Mediterranean, the Italian Peninsula occupying an intermediate position therein. In particular, Sicily and Southern Italy reveal a shared paternal genetic background with the Balkan Peninsula and the time estimates of main Y-chromosome lineages signal paternal genetic traces of Neolithic and post-Neolithic migration events. On the contrary, despite showing some correspondence with its paternal counterpart, mtDNA reveals a substantially homogeneous genetic landscape, which may reflect older population events or different demographic dynamics between males and females. Overall, both uniparental genetic structures and TMRCA estimates confirm the role of Sicily and Southern Italy as an ancient Mediterranean melting pot for genes and cultures.     

Population differentiation of Phlebotomus perniciosus in Spain following postglacial dispersal

Comparative sequencing of mitochondrial cytochrome b (Cyt b) and isoenzyme analyses have not resolved the population structure of the Iberian lineage of the sandfly Phlebotomus perniciosus, the most widespread vector of Leishmania infantum (Protozoa, Trypanosomatidae) to humans and dogs in the western Mediterranean subregion. Allelic variation at trinucleotide microsatellite loci was investigated in 13 Spanish populations of P. perniciosus. Four out of five loci showed significant differentiation between (pairwise F(ST)>0.23), but not within (pairwise F(ST)&<0.05), two regional groups of populations (southern and northeastern). All Cyt b sequences belonged to the Iberian lineage, which differs by six fixed nucleotide differences from the typical lineage found in northwest Africa, Malta and Italy. The northeastern group of Spanish populations had a reduced number of microsatellite alleles (16 out of the 29 present in the southern populations), indicating its derivation as a peripheral isolate following the species' dispersal from a southern Ice Age refuge 8000-12 000 years ago. Pairwise F(ST) values did not increase with geographical distance between populations, over distances of 246-850 km (between regions) and 16-491 km (within regions). This suggests that the two regional groups of populations remain isolated, but that within each region there are no significant permanent barriers to gene flow between contiguous populations. These findings will help to predict the capacity of this sandfly to disperse, and originate new foci of leishmaniasis, in response to climate warming.     

Genetic analysis of a Sicilian population using 15 short tandem repeats

The genetic structure of the population of Alia (Sicily, Italy) was analyzed using 15 short tandem repeats: TPOX, D2S1338, D3S1358, FIBRA, D5S818, CSF1PO, D7S820, D8S1179, TH01, VWA, D13S317, D16S539, D18S51, D19S433, and D21S11. Two of these markers, D2S1338 and D19S433, have never before been used in research on population genetics and only recently have they been put to use in forensic medicine. Results of the analysis underline the genetic isolation of the Alia population and show it to be a recent bottleneck as a consequence of a cholera epidemic in 1837. While comparing the Alia population with other populations from Sicily, a genetic heterogeneity within Sicily was uncovered, thus confirming previous results obtained from the analysis of classical markers. This heterogeneity underlines the existence of genetic boundaries within the island. Comparisons with other Italian, Mediterranean, and European populations highlight the differentiation of the Sicilian population, reflecting the presence of a genetic boundary that separates Sicily from northern and central Italy and from the western Mediterranean basin.     

A new rare variant of the glyoxalase I system of the red cell: GLO-Sicily

A fast variant of the red cell enzyme glyoxalase I was identified in a sample of 663 persons from Eastern Sicily; the allele was designated GLOSi. The gene frequencies for the common alleles GLO1 and GLO2 are not different from those observed in other southern Italian populations, and are in agreement with the hypothesis of a westward gene flow from Asia.     

The response of European beech (Fagus sylvatica L.) seedlings from two Italian populations to drought and recovery

The response of gas exchange, leaf chlorophyll content, relative fluorescence to decreasing water potential and recovery was followed in European beech seedlings from two Italian populations, differing in their native precipitation amounts. A population from Sicily (southern Italy) was selected as representative of a xeric population while a population from central Italy, Abetone, represented a mesic one. Dry-matter partitioning, leaf area, hydraulic sufficiency and xylem embolism were evaluated in both well-watered control plants as well as in plants subjected to drought. With the onset of water stress, values of water potential, leaf relative water content, net photosynthesis, leaf conductance and leaf chlorophyll concentration decreased concurrently while relative fluorescence remained unchanged. The population from Sicily showed a delay in effects of the imposed drought. Within 5 days of rewatering, leaf conductance was not fully recovered while all of the other parameters recovered to control levels, in both populations. Total, shoot, stem and root dry weight tended to be higher in seedlings from Abetone, even though both populations had similar photosynthetic rates. The population from Sicily exhibited about 3% greater (even if not significant) allocation to roots than the population from Abetone. Seedlings from Abetone had higher, but not significant, leaf specific conductivity and per cent loss in hydraulic conductivity than seedlings from Sicily. Drought resulted in a reduction of hydraulic conductivity and hydraulic sufficiency in seedlings from both populations. Photosynthesis of water stressed plants from both populations appeared to be reduced primarily by carbon dioxide diffusion through stomata and perhaps secondarily by changes in chlorophyll concentration rather than by efficiency of photosystem II. The effect of hydraulic factors on gas exchange during drought and recovery was not clearly evident.     

Polymorphism of immunological and biochemical marker genes in rural populations of the Tuva Republic

This article continues the series of publications on the population genetic structure of the Tuva Republic. The polymorphism of immunological (ABO, MN, and the Dd locus of Rhesus) and biochemical (TF, GC, HP, PGD, PGM1, ACP1, and ESD) marker systems was studied in three rural populations of the Tuva Republic: the Shinaanskii, Todzhinskii, and Bai-Taiginskii populations (the Kungurtug, Toora-Khem, and Teeli villages, respectively). Genetic subdivision of the populations and genetic distances between the Tuvinian populations and the populations of neighboring regions were estimated. Tuvinians were demonstrated to be genetically heterogeneous. Data on their population-genetic structure with respect to several classical marker systems agree with the results obtained for quasigenetic (family names) and molecular (mtDNA) markers. Prolonged isolation of individual populations in the republic promoted formation of specific patterns of gene frequencies in some of them. These patterns account for differences between Tuvinians and other populations belonging to the Altaic language family. Tuvinians in general are genetically closer to Mongolian populations inhabiting the regions bordering the Tuva Republic than to southern Altaians.     

Phophoglucomutase first locus polymorphism as revealed by isoelectric focusing in Southern Africa

Eleven Southern African populations (representing European, Asian and Negroid populations) have been typed for the first locus phosphoglucomutase (PGM1) using isoelectric focusing (pH range 5.0-8.0) in acrylamide gels. The gene frequencies of the four common alleles at this locus in these populations were compared to those found previously in European and Negroid populations. Marked differences in gene frequencies were observed: Negroes have a lower PGM1(2-) compared with Caucasoids due to a lower PGM1(2-) frequency, Indians a relatively high PGM1(2) due to a higher frequency of the PGM1(2+) allele. The Afrikaans and Ashkenazim do not differ appreciably from their European counterparts. The appearances of the rarer PGM1(6) and PGM1(7) alleles on isoelectric focusing are described and some kinetic properties examined. The PGM2(2-1), or 'Atkinson' phenotype, can also be detected with this technique.     

The ethnic minorities of southern Italy and Sicily: relationships through surnames

Surnames of grandparents were collected from children in the primary schools of the Albanian-Italian, Croat-Italian and Greek-Italian villages of southern Italy and Sicily. The coefficients of relationships by isonymy show almost no relationship with ethnicity. Ethnolinguistic minorities of southern Italy and Sicily are geographically subdivided into two main clusters: the first cluster comprises the Albanian, Croat and Greek communities of the Adriatic area; and the second cluster comprises the Albanian and Greek communities of the Ionian, Thirrenian and Sicilian areas.     

Phylogeographic inferences from the mtDNA variation of the three-toed skink, Chalcides chalcides (Reptilia: Scincidae)

Genetic diversity was analyzed in Chalcides chalcides populations from peninsular Italy, Sardinia, Sicily and Tunisia by sequencing 400 bp at the 5' end of the mitochondrial gene encoding cytochrome b (cyt b) and by restriction fragment length polymorphism (RFLP) analysis of two mitochondrial DNA segments (ND-1/2 and ND-3/4). The results of the phylogenetic analysis highlighted the presence of three main clades corresponding with three of the four main geographical areas (Tunisia, Sicily and the Italian peninsula), while Sardinia proved to be closely related to Tunisian haplotypes suggesting a colonization of this island from North Africa by human agency in historical times. On the contrary, the splitting times estimated on the basis of cyt b sequence data seem to indicate a more ancient colonization of Sicily and the Italian Peninsula, as a consequence of tectonic and climatic events that affected the Mediterranean Basin during the Pleistocene. Finally, the analysis of the genetic variability of C. chalcides populations showed a remarkable genetic homogeneity in Italian populations when compared to the Tunisian ones. This condition could be explained by a rapid post-glacial expansion from refugial populations that implied serial bottlenecking with progressive loss of haplotypes, resulting in a low genetic diversity in the populations inhabiting the more recently colonized areas.     

Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area

The phylogeography of Y-chromosome haplogroups E (Hg E) and J (Hg J) was investigated in >2400 subjects from 29 populations, mainly from Europe and the Mediterranean area but also from Africa and Asia. The observed 501 Hg E and 445 Hg J samples were subtyped using 36 binary markers and eight microsatellite loci. Spatial patterns reveal that (1). the two sister clades, J-M267 and J-M172, are distributed differentially within the Near East, North Africa, and Europe; (2). J-M267 was spread by two temporally distinct migratory episodes, the most recent one probably associated with the diffusion of Arab people; (3). E-M81 is typical of Berbers, and its presence in Iberia and Sicily is due to recent gene flow from North Africa; (4). J-M172(xM12) distribution is consistent with a Levantine/Anatolian dispersal route to southeastern Europe and may reflect the spread of Anatolian farmers; and (5). E-M78 (for which microsatellite data suggest an eastern African origin) and, to a lesser extent, J-M12(M102) lineages would trace the subsequent diffusion of people from the southern Balkans to the west. A 7%-22% contribution of Y chromosomes from Greece to southern Italy was estimated by admixture analysis.     

Biodemoraphy and genetics of the Berba of Benin

Genetic structure of the Berba of Benin was studied on the basis of biodemographic data and ABO, RH, MNS, KEL, JK, FY, ACP1, ADA, AK1, CA2, ESD, GLO1, G6PD, PGD, PGM1 (subtypes and thermostability), PGM2, PGP, SODA, HBα, HBβ, HBδ, BF, C3, and Hp gene frequencies. Comparisons were carried out with other populations of Benin and of sub-Sahara Africa. Correspondence analysis revealed genetic differentiation among the three main groups of populations who inhabit sub-Saharan Africa: Bushmen-Hottentots, Pygmies, and Negroes. The genetic differentiation of the Negroes in relation to their linguistic affiliation and geographic localization was evident. The first group included the populations belonging to the Bantoid subfamily of the Nigritic linguistic stock living in southern Africa; in the second subcluster the populations of central-eastern Africa were localized, and the third subcluster included the populations living in the West. © 1996 Wiley-Liss, Inc.     

Phylogeography of the pool frog Rana (Pelophylax) lessonae in the Italian peninsula and Sicily: multiple refugia,glacial expansions and nuclear–mitochondrial discordance

Aim To infer the evolutionary history of Rana (Pelophylax) lessonae Camerano within its inferred Quaternary refugial range, and to shed light on the processes that have contributed to shaping the patterns of diversity within the southern European peninsulas. Location The Italian peninsula south of the Alps and Sicily. Methods Sequence analysis of a mitochondrial cytochrome b gene fragment in 149 individuals sampled from 25 localities. Results Three mitochondrial DNA (mtDNA) phylogroups were identified, distributed in northern Italy, the whole Italian peninsula south of the northern Apennines, and Sicily. Syntopy between the northern and peninsular lineages was observed close to the northern Apennines. The northern lineage was the most differentiated, showing a net sequence divergence of 4.8 ± 0.8% with respect to the two others, whereas the net divergence between peninsular and Sicilian lineages was 2.6 ± 0.6%. Analysis of molecular variance (amova ) revealed that 93% of the overall variation occurred between these three groups. Historical demographic statistics support a recent expansion for both the northern and peninsular groups, but not for the Sicilian group. In both northern and peninsular Italy, such an expansion was likely to have occurred during the last glaciation. Main conclusions Our results suggest that a number of microevolutionary processes were involved in shaping the present genetic structure of R. lessonae in Italy. These encompass allopatric differentiations in three distinct Pleistocene refugia, recent population expansions and secondary contacts. Our results, together with some previous work, support (1) the existence of a suture zone in the northern Apennines, and (2) the possibility of population expansions during the last glacial phase, when a vast widening of the lowland floodplain habitats followed sea‐level fall, particularly in northern Italy. When compared with previous analyses of allozyme data, it appears that the peninsular mtDNA lineage has recently replaced the Sicilian one in southern Calabria, and we suggest that this event occurred due to selective introgression. The implications of such an occurrence for the study of factors underlying the patterns of diversity within this southern European biodiversity hotspot are discussed. Taxonomic implications of the results are also evaluated.     

Italian Peninsula preserves an evolutionary lineage of the fat dormouse Glis glis L. (Rodentia: Gliridae)

The present study examines the population genetic structure of fifty‐nine specimens of Glis glis (Linneaus, 1766) from thirteen localities in central Europe, sequencing a 400‐bp segment of the mitochondrial cytochrome b (cyt b) gene and a 673‐bp segment of the cytochrome c oxidase subunit I (COI) gene. The consensus tree obtained from Bayesian analysis revealed a robust dichotomy, showing two sister groups: one clade includes samples from a wide geographical area, extending from north‐central Europe to northern Italy (major branch sensu Bilton), and the other comprises samples collected in central and southern Italy and in Sicily (Italian branch). According to the Tajima–Nei model, the two phylogroups were separated by a sequence divergence of 0.8% (cyt b) – 2.6% (COI), showing the COI gene to be more informative than cyt b. On a smaller geographical scale, the Italian clade was further substructured, displaying geographical differentiation along the Peninsula. The gene pool in this area was patchy; whereas populations from Sicily Island demonstrated fixed cyt b and COI haplotypes, assuming processes of isolation and selection. © 2010 The Linnean Society of London, Biological Journal of the Linnean Society, 2011, 102 , 11–21.     

Evidence of a highly complex phylogeographic structure on a specialist river bird species, the dipper (Cinclus cinclus)

This study details the phylogeographic pattern of the white-throated dipper (Cinclus cinclus), a Palearctic, temperate, passerine bird that is exclusively associated with flowing water. Our results reveal a complex phylogeographic structure with at least five distinct lineages for the Western Palearctic region. As for many species of the Western Palearctic fauna and flora, this genetic structure is probably linked to the isolation of populations in different southern refuges during glacial periods. Furthermore, the isolation of populations in Scandinavia and/or Eastern regions, but also in Morocco and probably in Corsica, was accentuated by ecological and biogeographic barriers during Quaternary interglacial periods. During glacial periods, Italy, Sicily and the Balkano-Carpathian region acted as major refuge zones for the dipper. At the end of the last ice age, Western Europe was repopulated by dippers from an Italian refuge, while Eastern Europe was recolonised by Balkano-Carpathian birds. A large contact zone between these two lineages was evidenced and extends from Luxembourg to Hungary. Finally, our results indicate the need to clarify the taxonomic status of the dipper, especially concerning the European subspecies whose validity appears uncertain.     

PGM1 and TF subtypes and C3 polymorphisms in Continental Italy and Sardinia. Data on the world distribution of these genetic markers

PGM1, TF and C3 polymorphisms have been examined in two Italian samples, collected in continental Italy and in Sardinia (Cagliari). The PGM1 and TF subtypes were determined by isoelectric focusing while the C3 was studied by conventional methods. A significant difference in the gene frequencies of PGM1 and TF systems between our two samples has been observed. In addition, data on the world distribution of PGM1, TF and C3 polymorphisms have been presented.