Population structure of Sicily: beta-thalassemia and HbS

Summary The population structure of two alleles with similar characteristics, HbS and beta-thalassemia, was studied in the same area in Sicily. It was observed that beta-thalassemia has uniform frequencies over the island, and that HbS shows a South-North cline. A singularity exists for HbS in the town of Butera, where the frequency of the S gene is six times higher than the island average. It was suggested that HbS entered Sicily from Greece (or directly from North Africa) when the beta-thalassemia allele was already established in the Island.     

A contribution to the knowledge of myxomycetes diversity in volcanic islands

A list of myxomycetes collected in Pantelleria, a volcanic island located 110 km southwest of the island of Sicily (Italy), is presented with data on distribution. Forty-nine taxa were identified, 38 of which are new for Sicily. The myxomycete diversity of Pantelleria was also compared with that of other volcanic islands located in the Atlantic and Pacific oceans.     

Haemoglobin polymorphism in the Bank vole, Clethrionomys glareolus, in Britain

Three hundred and twenty-two Clethrionomys glareolus from 17 localities in England, Wales and southern Scotland were typed for haemoglobin and two phenotypes were discovered. They have been designated HbS and HbF. The latter is more electronegative at physiological pH. The nature of the molecular difference between the phenotypes was examined and it was concluded that HbF polymerises more readily than does HbS. Haematological investigations showed that although the red cells of animals with HbF contain more potassium, thereby ensuring electrostatic neutrality, there has not been concomitant dilution of the cell contents. It is suggested that the osmotic stress imposed by this high concentration of particles might be reduced by in vivo polymerisation of haemoglobin. HbS was found to predominate in the north of Britain and HbF in the south. As none of the populations sampled contained animals of both types, it is not yet known whether there is a north-south cline in haemoglobin type, or a sharp disjunction.     

Tuberculosis Epidemiology in Islands: Insularity,Hosts and Trade

Because of their relative simplicity and the barriers to gene flow, islands are ideal systems to study the distribution of biodiversity. However, the knowledge that can be extracted from this peculiar ecosystem regarding epidemiology of economically relevant diseases has not been widely addressed. We used information available in the scientific literature for 10 old world islands or archipelagos and original data on Sicily to gain new insights into the epidemiology of the Mycobacterium tuberculosis complex (MTC). We explored three nonexclusive working hypotheses on the processes modulating bovine tuberculosis (bTB) herd prevalence in cattle and MTC strain diversity: insularity, hosts and trade. Results suggest that bTB herd prevalence was positively correlated with island size, the presence of wild hosts, and the number of imported cattle, but neither with isolation nor with cattle density. MTC strain diversity was positively related with cattle bTB prevalence, presence of wild hosts and the number of imported cattle, but not with island size, isolation, and cattle density. The three most common spoligotype patterns coincided between Sicily and mainland Italy. However in Sicily, these common patterns showed a clearer dominance than on the Italian mainland, and seven of 19 patterns (37%) found in Sicily had not been reported from continental Italy. Strain patterns were not spatially clustered in Sicily. We were able to infer several aspects of MTC epidemiology and control in islands and thus in fragmented host and pathogen populations. Our results point out the relevance of the intensity of the cattle commercial networks in the epidemiology of MTC, and suggest that eradication will prove more difficult with increasing size of the island and its environmental complexity, mainly in terms of the diversity of suitable domestic and wild MTC hosts.     

Brief communication: coexistence of two distinct patterns in the surname structure of Sicily

The extent of variation in the migratory movements that occurred in Sicily was evaluated using surname data taken from the telephone directories of the 390 communes of the island. The surname distribution of each commune was linearized by a log-log transformation, and a significant fit to a linear regression model was found in almost all cases. Interestingly, the slope of the regression line appeared to be a sensitive indicator of the different level of isolation associated with each Sicilian commune. By this approach, two distinct groups of communes, showing a higher or lower degree of isolation, were obtained, and two independent analyses of the surname structure of Sicily were carried out. A first multidimensional scaling analysis, based on the more isolated communes, yielded evidence for a more ancient pattern, characterized by a geographical gradient along the east-west axis. The same analysis, addressed to the less isolated communes, instead highlighted a wide network of interactions between geographically distant zones of the island. The fitting of the surname distribution to the log-log model allowed for the detection of a narrow subset of 35 Sicilian communes, whose significantly higher degree of isolation was statistically proved by the parallelism test. We believe that a genetic analysis focused on such specific zones of the island could reveal ancient patterns of differentiation, thus helping to answer the controversial question of the genetic history of Sicily.     

Distribution of abnormal hemoglobins S and C in the Republic of Guinea]

Distribution of the HbS and HbC in the Guinean Republic was determined by the analysis of the excerption of 2213 inhabitants representing different ethnic groups of the country. It was found that the mean frequency of the HbS heterozygotes is 21.2 +/- 0.9% and of the HbC heterozygotes is 2.6 +/- 0.3%. Among major nationalities of the country the frequencies of the HbS heterozygotes make up 21.0 +/- 1.9% for the Fulbe, 22.2 +/- 1.6% for the Malinke and 26.5 +/- 1.6% for the Susu and frequencies of the HbC heterozygotes make up 3.0 +/- 0.8% for the Fulbe, 2.5 +/- 0.6% for the Malinke and 1.6 +/- 0.4% for the Susu. Relative viability of the HbS and HbC carriers for major Guinean nationalities is estimated. The relative fitnesses account is 1.05-1.13 for HbC heterozygotes and 1.07-1.16 for HbC heterozygotes.     

Species richness, rarity and endemicity on Italian offshore islands: complementary signals from island-focused and species-focused analyses

Aims To investigate the relative explanatory power of source faunas and geographical variables for butterfly incidence, frequency, richness, rarity, and endemicity on offshore islands. Location The western Italian offshore islands (Italy and Malta). Methods Thirty‐one islands were examined. Data were taken from our own field surveys and from the literature. Two approaches were undertaken, described as island‐focused and species‐focused, respectively. Offshore islands were allocated to their neighbouring source landmasses (Italian Peninsula, Sicily and Sardinia–Corsica) and compared with each other for faunal attributes, source and island geography. Generalized linear and stepwise multiple regression models were then used to determine the relationships of island species richness, rarity and endemicity with potential geographical predictors and source richness, rarity, and endemicity (island‐focused). Species frequency and incidence were assessed in relation to geographical and source predictors using stepwise linear and logistic regression, and inter‐island associations were examined using K‐Means clustering and non‐metric scaling (species‐focused). Results The analysis reveals firm evidence for the influence of the nearest large landmass sources on island species assemblages, richness, rarity and endemicity. A clear distinction in faunal affinities occurs between the Sardinian islands and islands lying offshore from the Italian mainland and Sicily. Islands neighbouring these three distinct sources differ significantly in richness, rarity and endemicity. Source richness, rarity, and endemicity have explanatory power for island richness, rarity, and endemicity, respectively, and together with island geography account for a substantial part of the variation in island faunas (richness 59%, rarity 60% and endemicity 64%). Source dominates the logistic regression parameters predicting the incidence of island species [13 (38%) of 34 species that could be analysed]; three ecological factors (source frequency, flight period and maximal altitude at which species live) explained 75% of the variation in the occurrence of species on the islands. Species found more frequently on islands occurred more frequently at sources, had longer flight periods, and occurred at lower altitudes at the sources. The incidence of most species on islands (84%) is correctly predicted by the same three variables. Main conclusions The Italian region of the Mediterranean Sea has a rich butterfly fauna comprising endemics and rare species as well as more cosmopolitan species. Analysis of island records benefited from the use of two distinct approaches, namely island‐focused and species‐focused, that sift distinct elements in island and source faunas. Clear contemporary signals appear in island–source relationships as well as historical signals. Differences among faunas relating to sources within the same region caution against assuming that contemporary (ecological) and historical (evolutionary) influences affect faunas of islands in different parts of the same region to the same extent. The implications of source–island relationships for the conservation of butterflies within the Italian region are considered, particularly for the long‐term persistence of species.     

Mediterranean island biogeography: Analysis of fern species distribution in the system of islets around Sicily

Abstract

The aim of this article was to test the way in which geographical factors influence island floras in the Mediterranean basin, using ferns as target organisms, and the islands surrounding Sicily as location. A matrix with presence/absence data concerning fern taxa in the 16 islands studied was compiled. Cluster analysis, principal co-ordinates analysis (PCoA), principal components analysis (PCA) and a Bayesian analysis were performed. For each island, the total number of fern taxa was regressed against three factors: island area, island elevation and isolation. All the analyses pointed to affinities between islands according to their different geological composition, independently from their geographic position. A clear positive island species/area relationship (ISAR) was shown only for the volcanic islands. The island species/(area×elevation) relationship (ISAER), on the contrary, was unsatisfactory. The main features of interest are the following: (1) the clear division of the islands into two groups, volcanic vs. sedimentary; (2) the floristic richness of the volcanic compared to sedimentary islands and (3) the uniqueness of the pteridophyte flora of Pantelleria. This seems to demonstrate that the lower number of taxa in the islands farthest away from the “mainland” (Sicily, Tunisia) is not due to isolation, but due to another factor, probably habitat availability.     

Genetic structure of the population of Sicily.

Genetic heterogeneity within Sicily was investigated on the basis of ACP1, ADA, ESD, GLO1, PGD, PGM1, PGM2, SODA, ABO, and MN gene frequencies, and compared to those of other regions of Italy for which these same loci have been examined. Correspondence analysis revealed no differences within the island, at least at the provincial level, but showed genetic differentiation among Italian regions, distinctly clustering northern, central, and southern populations, respectively. These data indicate a close relationship between Sicily and southern Italy. In addition, the contribution of Middle Eastern populations to the gene pool of Sicily was evident.     

Analysis of non‐Saccharomyces yeast populations isolated from grape musts from Sicily (Italy)

Aims: The aim of this study was to identify the non‐Saccharomyces yeast populations present in the grape must microflora from wineries from different areas around the island of Sicily. Methods and Results: Yeasts identification was conducted on 2575 colonies isolated from six musts, characterized using Wallerstein Laboratory (WL) nutrient agar, restriction analysis of the amplified 5·8S‐internal transcribed spacer region and restriction profiles of amplified 26S rDNA. In those colonies, we identified 11 different yeast species originating from wine musts from two different geographical areas of the island of Sicily. Conclusions: We isolated non‐Saccharomyces yeasts and described the microflora in grape musts from different areas of Sicily. Moreover, we discovered two new colony morphologies for yeasts on WL agar never previously described. Significance and Impact of the Study: This investigation is a first step in understanding the distribution of non‐Saccharomyces yeasts in grape musts from Sicily. The contribution is important as a tool for monitoring the microflora in grape musts and for establishing a new non‐Saccharomyces yeast collection; in the future, this collection will be used for understanding the significance of these yeasts in oenology.     

The influence of geographical and ecological factors on island beta diversity patterns

Aim To investigate the importance of various island characteristics in determining spatial patterns of variations in beta diversity for various animal groups. Location Analyses are presented for 10 animal groups living on the Aeolian Islands, a volcanic archipelago in the central Mediterranean, near Sicily. Methods Three hypotheses were formulated to explain patterns of beta diversity: the target‐area–distance effect, stepping stone dispersal and island age. Matrices of inter‐island dissimilarities were constructed under each hypothesis and correlated with matrices of faunal dissimilarities using Mantel tests. For the ‘target‐area–distance effect’ hypothesis, inter‐island dissimilarities were calculated using island sizes and distances to nearest mainland areas. For the ‘stepping stone dispersal’ hypothesis, inter‐island distances were measured. Finally, for the ‘island age’ hypothesis, inter‐island dissimilarities were calculated on the basis of the geological age of the islands. Cluster analysis was used to investigate inter‐island faunal relationships. Results Support for a target‐area–distance effect was found only for birds. For these highly mobile animals, inter‐island distances had no significant effects on beta diversity. Birds are known to colonize islands by crossing large sea barriers and thus they can easily reach the Aeolian Islands, which are close to source areas (notably Sicily). Inter‐island distances had a significant role in determining patterns of beta diversity in most invertebrates. For Mollusca, Opiliones, Chilopoda, Heteroptera, coprophagous Scarabaeoidea, and Tenebrionidae, even relatively short distances preclude invertebrates from colonizing an island regularly from the mainland, and most colonization probably results from inter‐island faunal exchanges. Island age was proved to be important only for orthopterans. Main conclusions The origin of most of the Aeolian invertebrate fauna is quite recent, and species appear to have established on the islands predominantly by stepping stone dispersal. Birds, which are highly mobile organisms, follow more direct mainland–island dynamics. As further studies on other islands become available, comparative analyses will confirm whether the factors influencing variations in beta diversity in this study and their relationships with species dispersal ability are consistent across scales and geographical context.     

Emergence and Phylodynamics of Citrus tristeza virus in Sicily,Italy

Citrus tristeza virus (CTV) outbreaks were detected in Sicily island, Italy for the first time in 2002. To gain insight into the evolutionary forces driving the emergence and phylogeography of these CTV populations, we determined and analyzed the nucleotide sequences of the p20 gene from 108 CTV isolates collected from 2002 to 2009. Bayesian phylogenetic analysis revealed that mild and severe CTV isolates belonging to five different clades (lineages) were introduced in Sicily in 2002. Phylogeographic analysis showed that four lineages co-circulated in the main citrus growing area located in Eastern Sicily. However, only one lineage (composed of mild isolates) spread to distant areas of Sicily and was detected after 2007. No correlation was found between genetic variation and citrus host, indicating that citrus cultivars did not exert differential selective pressures on the virus. The genetic variation of CTV was not structured according to geographical location or sampling time, likely due to the multiple introduction events and a complex migration pattern with intense co- and re-circulation of different lineages in the same area. The phylogenetic structure, statistical tests of neutrality and comparison of synonymous and nonsynonymous substitution rates suggest that weak negative selection and genetic drift following a rapid expansion may be the main causes of the CTV variability observed today in Sicily. Nonetheless, three adjacent amino acids at the p20 N-terminal region were found to be under positive selection, likely resulting from adaptation events.     

The evolution of two west African populations

Summary The identification of genetically coherent populations is essential for understanding human evolution. Among the culturally uniform ethnic groups of west Africa, there are two geographically distinct populations with high frequencies of sickle-cell hemoglobin (HbS). Although the HbS mutation in each group is found on distinguishable chromosomes 11, these populations have been assumed to be parts of a single population. Analysis of mitochondrial DNA (mtDNA) in these populations demonstrated that the two populations identified by alternative chromosomes 11 bearing HbS have distinct distributions of mitochondrial genotypes, i.e., they are maternally separate. These studies also showed that, contrary to expectation, the mtDNA of some individuals is heteroplasmic. For nuclear loci, a comparison of the frequency of alternative alleles established that these populations are genetically distinct. Both the mitochondrial and nuclear data indicate that these populations have been separate for approximately 50,000 years. Although HbS in the two populations is usually attributed to recent, independent mutations, the duration of the separation and the observed geographic distribution of the population allow for the possibility of an ancient origin of HbS. Assuming an ancient mutation and considering the known biogeography, we suggest that HbS protected selected populations from malaria in rain forest refuges during the most recent ice age.Offprint requests to: O.C. Stine     

Rare variants of Hb D Punjab, Hb O Arab and polymorphism of human hemoglobins

This report describes the occurrence, study and molecular diagnostics of 40 Hb O Arab beta 121 Glu Lys cases and 4 Hb D punjab beta 121 Glu Gln cases in Bulgaria. Hematological, morphological and clinical data for 12 patients with Hb O arab are listed. Among them we observed 7 simple heterozygotes for Hb O Arab/Hb A, two double heterozygotes-compounds for Hb O/beta+-thalassemia and three compounds for Hb O/beta 0-thalassemia (the latter assumed). Also, general hematological, morphological and clinical data are presented for 4 Hb D Punjab carriers, from which two are simple heterozygotes and two are assumed, as compounds for Hb D/beta 0-thalassemia. The consideration of heterozygosity, homozygosity for both abnormal hemoglobins and of the compound state of Hb O or Hb D/beta-thalassemia or HbS types let us suggest the relative neutrality of the variants and the limitation in their distribution, depending on genetic structure of populations, where they spread. It may be concluded that human hemoglobin is characterized by marked monomorphism. At the same time, the high frequency of HbS, HbE and HbC in some populations can be well explained by contemporary selectionism; the distribution of relatively neutral Hb D Punjab and Hb O Arab with some limitations can follow Kimura's neutralism concept.     

Factors associated with occurrence,potential distribution and conservation of Polyphylla ragusae,an endemic Scarabaeidae (Melolonthinae) from Sicily

Journal of Insect Conservation - Polyphylla ragusae (Coleoptera Scarabaeidae) is an endemic beetle restricted to the island of Sicily (Italy). This species is among the most threatened...     

Cultural landscape and plant use at the Phoenician site of Motya (Western Sicily,Italy) inferred from a disposal pit

Vegetation History and Archaeobotany - The present study concerns the Phoenician-Punic site of Motya, a small island set in Western Sicily (Italy), in the Marsala Lagoon (Stagnone di Marsala),...     

Deoxygenation-induced non-electrolyte pathway in red cells from sickle cell patients.

Red cells from patients with sickle cell disease contain HbS rather than the normal HbA (here termed HbS cells). On deoxygenation, HbS cells exhibit a distinctive solute permeability pathway, P(sickle), activated stochastically, and partially inhibited by DIDS and dipyridamole. It is often referred to as a cation channel although its permeability characteristics remain vague and its molecular identity is unknown. We show that, in contrast to normal red cells, a proportion of HbS cells underwent haemolysis when deoxygenated in isosmotic non-electrolyte solutions. Haemolysis was stochastic: cells unlysed after an initial deoxygenation pulse showed lysis when harvested, reoxygenated and subsequently exposed to a second period of deoxygenation. O(2) dependence of haemolysis was similar to that of P(sickle) activation. Haemolysis was accompanied by high rates of sucrose influx, and both haemolysis and sucrose influx were inhibited by DIDS and dipyridamole. Sucrose influx was only detected as ionic strength was reduced below 80 mM. These findings are consistent with the postulate that deoxygenation of HbS cells, under certain conditions, activates a novel non-electrolyte pathway. Their significance lies in understanding the nature of the deoxygenation-induced permeability in HbS cells, together with its relationship with novel pathways induced by a variety of manipulations in normal red cells.     

Evidence for a founder effect in Sicilian patients with glycogen storage disease type II

Glycogen storage disease type II (GSD II) is an autosomal recessive inherited disorder due to the deficiency of the enzyme acid alpha-glucosidase, which causes an accumulation of glycogen in lysosomes. The deletion of exon 18 (delta 18) is a frequent mutation associated with a severe phenotype. We analyzed 25 Italian patients, 5 of whom were found to be delta 18 carriers. All these 5 patients came from Catania, a town in Sicily. We report on the analysis of 5 intragenic single-point polymorphic markers in the delta 18 patients and on the subsequent characterization of a delta 18-associated haplotype. The frequency of this haplotype in GSD II patients and normal individuals was 1 and 0.196, respectively (chi(2) = 20.9; p < 0.001). The high frequency of the delta 18 allele in this Italian subpopulation is likely to be due to a founder effect.     

Hemoglobins S and C in Upper Volta

Summary We have studied the incidence of hemoglobinopathies in 1059 individuals in Upper Volta. We have found that this population has a high frequency of HbS and HbC and -thalassemia. The gene frequency of HbS was high (0.1 for the ^S gene) in the arid Sahel portion of Upper Volta accompanied by a lower frequency for HbC (0.05 for the ^c gene). The reverse was true in the humid Savanna region of this country (0.03 for the ^S gene and 0.14 for the ^c gene). There was no age dependency of the HbS gene frequency, but -thalassemia, detectable in HbS heterozygotes, showed a statistically significant decrease with age. No homozygote for HbS was detected after the age of 1 year, and SC and CC genotypes were found at a lower incidence than expected. The environmental and medical conditions in Upper Volta preclude the survival of SS individuals and decrease the survival of SC and CC genotypes.     

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.