-
[show abstract]
[hide abstract]
ABSTRACT: A fish population of the carp family Cyprinidae with atypical phenotypic characteristics was observed in one of the main catchments of the Pollino National Park, a valuable, protected area in southern Italy. In this area, the Italian roach Rutilus rubilio (Bonaparte, 1837), a native endemic fish of Tyrrhenean regions, has been introduced in sympatric conditions with Squalius squalus (Bonaparte, 1837) and Telestes muticellus (Bonaparte, 1837). A molecular investigation was carried out to assess the genetic identity of the population with a view to conservation. Direct sequencing of a cytochrome b gene fragment was performed based on 30 individuals of cyprinid fish with atypical phenotype, in addition to 30 S. squalus, 10 T. muticellus, and 30 R. rubilio pure individuals collected in different Italian regions, which served as reference samples. Multiple sequence alignments demonstrated that 50% of atypical-cyprinid haplotypes were maternally inherited from either S. squalus or R. rubilio. No contribution by T. muticellus was determined. Our results indicate an intergeneric hybridization event between S. squalus and R. rubilio, as a consequence of trans-introduction activities of alien species.
ZOOLOGICAL SCIENCE 05/2013; 30(5):408-13. · 0.95 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Considering previous genetic studies on sudden infant death syndrome (SIDS) and the role of L/L serotonin transporter (5HTT) genotype and correlated genes monoamine oxidase A (MAOA) and dopamine transporter (DAT) in unexpected death, an investigation was carried out verifying their involvement in apparent life-threatening events (ALTE and idiopathic form [IALTE]), also assessing common molecular basis with SIDS.
Differential diagnoses in 76 ALTE infants, distinguishing ALTE from IALTE was elaborated by using clinical-diagnostic data. Genotypes/allelic frequencies of DAT, MAOA, and 5HTT were determined in ALTE and IALTE infants and compared with data obtained from 20 SIDS and 150 controls.
No association was found between DAT polymorphisms and ALTE/IALTE groups either at the genotype or allelic level (P range .11-.94). MAOA genotypes and allele data comparison between ALTE and controls was not significant; IALTE data showed a tendency for genotypes (P = .09) and were statistically significant for alleles (P = .036); however, MAOA significance disappeared once the Bonferroni correction was applied. 5HTT polymorphisms in IALTE remarked the role of L/L genotype (P < .00001) and L (P < .00001), as previously demonstrated in SIDS.
Considering correspondence between 5HTT and MAOA in IALTE and SIDS, we hypothesize that the 2 syndromes are different expressions of a common ethiopathogenesis. In particular, genetic data suggest SIDS events could derive from IALTE episodes occurred during sleep, and therefore out of parental control. Despite its functional role, results highlight the usefulness of 5HTT as a valuable tracer of SIDS risk in IALTE infants. Owing to the small sample size, the results are to be considered preliminary and should be reevaluated in an independent sample.
PEDIATRICS 06/2012; 130(1):e138-44. · 4.47 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: The correlations between skeletal parameters (bulk density, micro-density and porosity), coral age and sea surface temperature were assessed along a latitudinal gradient in the zooxanthellate coral Balanophyllia europaea and in the azooxanthellate coral Leptopsammia pruvoti. In both coral species, the variation of bulk density was more influenced by the variation of porosity than of micro-density. With increasing polyp age, B. europaea formed denser and less porous skeletons while L. pruvoti showed the opposite trend, becoming less dense and more porous. B. europaea skeletons were generally less porous (more dense) than those of L. pruvoti, probably as a consequence of the different habitats colonized by the two species. Increasing temperature had a negative impact on the zooxanthellate species, leading to an increase of porosity. In contrast, micro-density increased with temperature in the azooxanthellate species. It is hypothesized that the increase in porosity with increasing temperatures observed in B. europaea could depend on an attenuation of calcification due to an inhibition of the photosynthetic process at elevated temperatures, while the azooxanthellate species appears more resistant to variations of temperature, highlighting possible differences in the sensitivity/tolerance of these two coral species to temperature changes in face of global climate change.
Zoology 09/2011; 114(5):255-64. · 1.50 Impact Factor
-
Neurogenetics 02/2011; 12(1):91-2. · 3.35 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Esophageal atresia (EA) is a life-threatening congenital condition whose etiology and pathogenesis are still poorly understood. An increasing trend of this pathology in some Italian regions suggests a possible interaction between xenobiotics and genes involved in detoxification processes during early embryonic development. For the first time polymorphisms of GSTM1, GSTT1, and GSTP1 genes were analyzed in association with EA.
The study population consisted of 25 EA children, 50 unrelated healthy children, 20 of the EA children's mothers, and 40 unrelated mothers. GSTM1 and GSTT1 null genotypes were identified by PCR amplification, and GSTP1 polymorphism was detected by RFLP analysis.
An association was found between homozygosity for the GSTM1 null genotype and EA in affected children (p = 0.0022) and their mothers (p = 0.022). No association was found between GSTT1 and GSTP1 polymorphisms and EA children or their mothers.
Results suggest that the GSTM1(-/-) null genotype may play an important role in the development of EA during early embryogenesis as a consequence of altered detoxification processes both in children and in the mothers. We hypothesize that GSTM1 allelic loss could be responsible for reduced or null catalytic activity in tissues exposed to amniotic fluid, and inefficient detoxification could be a trigger altering proliferation/apoptotic pattern of gut-trachea separation.
Birth Defects Research Part A Clinical and Molecular Teratology 09/2010; 88(9):743-7. · 2.27 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Recent findings demonstrated the role of neurotransmitters in the aetiopathogenesis of sudden unexpected deaths in infancy.
Although genes involved in serotonin metabolism have been proposed as risk factors for sudden infant death syndrome (SIDS),
the contribution of additional neurotransmitters and genes different from the serotonin transporter (SLC6A4, 5-HTT) has not been investigated. Considering the common metabolic pathway and synergism between dopamine and serotonin, the role
of dopamine transporter (SLC6A3, DAT) and monoamine oxidase A (MAOA) genes in SIDS and stillbirth (sudden intrauterine unexplained death, SIUD) was investigated. Genotypes and allelic frequencies
of DAT and MAOA were determined in 20 SIDS and five stillbirth cases and compared with 150 controls. No association was found between DAT polymorphisms and SIDS either at genotype (P = 0.64) or allelic (P = 0.86) level; however, a highly significant association was found between MAOA genotypes (P = 0.047) and alleles (P = 0.002) regulating different expression patterns (3R/3R vs 3.5R/3.5R + 4R/4R) in SIDS + SIUD and controls. Analysis of combined
5-HTTLPR (serotonin transporter linked polymorphic region)/MAOA genotypes revealed that frequency of L/L-4R/4R genotype combination was eightfold higher in SIDS + SIUD than in controls
(P < 0.001). Findings are discussed considering the metabolic association among DAT, 5-HTT and MAOA with special emphasis on the linked action of 5-HTT/MAOA in regulating serotonin metabolism of SIDS and SIUD infants.
Neurogenetics 01/2009; 10(1):65-72. · 3.35 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Genotypes and allelic frequencies of TPH2, 5-HTTLPR, the 5-HTT (SLC6A4) intron 2 variable-number tandem repeat (VNTR) region, and the MAOA VNTR region were determined in brain-stem samples of 20 "genuine" SIDS cases and compared with results obtained from 150 healthy controls. The SNP G1463A responsible for 80% functionality loss of TPH2 (tryptophan hydroxylase 2) was not detected, neither in SIDS infants nor in the controls. In contrast, a strict relation was found between the 5-HTTLPR genotype and its allelic frequencies with SIDS cases. The L/L genotype and the long allele (L) of the promoter region of the serotonin transporter were significantly associated (likelihood ratio (LR) test, p<0.001) with the syndrome (L/L, 60% SIDS vs 14% controls; L, 80% SIDS vs 42.6% controls). Polymorphisms of the intron 2 VNTR of the same gene showed a trend for significant differences between genotypes 10/10 and 12/12 (LR test, p=0.068), with the L-12 haplotype being almost twofold in SIDS (44.5%) with respect to controls (23.4%). Differences were even higher considering the genotype combination L/L-12/12 (20% SIDS vs 2.6%), and variations among categories were statistically highly significant (p<0.001). Although additional differences were observed in the frequency of the MAOA (monoamine oxidase A) VNTR genotype 3R/3R between SIDS and controls (respectively 15% vs 26%), the results were not supported by statistical significance. Molecular polymorphisms are discussed considering their functional role in regulating serotonin synthesis (TPH2), neuronal reuptake (5-HTTLPR and 5-HTT intron 2), and catabolism (MAOA) in the nervous system of Italian SIDS infants. Comparisons are made with previous data obtained in different ethnic groups.
Genomics 06/2008; 91(6):485-91. · 3.02 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Among the variety of cultured marine species, the turbot Scophthalmus maximus is a fish of growing importance in European aquaculture. In this paper, an advanced application of AFLPs to estimate the genetic diversity of haploid gynogenetic families with the aim of obtaining a preliminary genetic map is presented. Ten EcoRI/TaqI primer combinations were tested in four families comprising diploid mothers and their haploid progenies. The amplified fragment length polymorphism (AFLP) analysis revealed an average of 6.8 polymorphic bands per primer combination and a total number of 88 polymorphisms out of 579 fragments. Among various primer pairs, seven combinations were selected in relation to the quality of profiles and number of polymorphic fragments, to be used in the determination of genetic linkage relationship between AFLP markers within the largest haploid family. Co-migration of non-homologous fragments was also investigated in one primer combination adding a fourth selective nucleotide to the three used in the classic TaqI AFLP protocol. Surprisingly, a rate of 38.7% of non-homologous fragments co-migrating with monomorphic bands was identified, due to the combined effect of homoplasy and the protocol used. Additional polymorphic markers discovered by this protocol were included in the linkage map. The turbot AFLP linkage map comprises 52 AFLP markers distributed in 12 linkage groups. On the basis of this map, turbot expected total genome length sums up to 1225.6 cM. The results confirm the usefulness of AFLPs in revealing genome segregation in haploid turbot progeny.
Aquaculture Research 12/2007; 39(1):41 - 49. · 1.20 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: We assessed structural gene variation (allozymes and mtDNA) of brown trout to evaluate the genetic variability of Apennine stream populations (Northern and Central Italy) and the possibility of introgression by alien genomes after massive restocking with hatchery strains (Atlantic stocks). Genetic variability within and between Apennine populations was extremely low in our samples. Only two allozyme loci were polymorphic and mean hetero-zygosity was also reduced compared to other brown trout populations. Allelic frequencies determined for both loci were similar to the ones detected in the corresponding hatchery spawners. The reduction or total absence of the Mediterranean nuclear (LDH-5) and mitochondrial (16S rDNA) diagnostic markers suggests the domestic origin of most populations, and the introgression effects carried out by non-native genomes. From a taxonomic point of view, a clear differentiation emerges among basins placed on opposite sides of the Apennine chain (Tyrrhenian and Adriatic regions). In particular, the presence of Mediterranean genotypes and haplotypes characterizing Salmo (trutta) macrostigma is sporadic along the eastern Apennine side, adding additional doubts on the original presence and wide distribution of this salmonid along the Adriatic side of the mountain chain. In spite of conservation programs devoted to preservation of local genetic characteristics of S. t. macrostigma, massive restocking practices with hatchery strains obtained by a few spawners is the major cause of significant `founder effect'' and `inbreeding depression'' even in Apennine regions.
Environmental Biology of Fishes 01/2003; 68(4):349-356. · 0.91 Impact Factor
-
Italian Journal of Zoology 01/2000; 67(3):277-279. · 0.94 Impact Factor
-
International Journal of Environmental Analytical Chemistry 08/1998; 71(3-4):311-319. · 1.16 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Several sociological, health and conservation arguments request a correct labelling of seafood products. Nowadays, molecular genetics is a useful tool for food chain traceability, particularly in regards to species identification. Among the variety of PCR-based molecular markers, AFLPs (Amplified Fragment Length Polymorphisms) have recently been used to investigate genomes of different complexities. This paper assesses the potential use of the AFLP technology to determine fish and seafood species in processed commercial products and domestic stocks. In particular a species database of fish, molluscs and crustaceans has been created with the aim to identify species of origin of seafood products by previously defined AFLP patterns. Different EcoRI and TaqI primer combinations were selected from 20 screened combinations in relation to the total number of detected fragments and polymorphic ones. Most informative combinations were E32/T32, E32/T33, E33/T33, E33/T37, E33/T38, E40/T33, E40/T37, E42/T32, E42/T37. The comparison of informative markers between unknown frozen or fresh products and reference samples has enabled the accurate identification of 32 different species. The taxonomic characterization has been performed either at the species or at the population level depending on the number of available individuals. AFLP variation at the population level is particularly helpful for the stock traceability of domestic strains. Size homoplasy was also investigated in one species to assess the rate of non-homologous comigrating fragments and to detect additional polymorphic markers to be used in stock identification. Results of Band Sharing Index (BSI) and percentage of polymorphic fragments are presented and are discussed in relation to the wide applicability of AFLPs both for fish and seafood safety and authenticity testing in such fields as food traceability and restocking management. The database, available upon request at nonnis@biol.unipr.it, will be continuously updated.
Aquaculture.
-
[show abstract]
[hide abstract]
ABSTRACT: In this work, we present molecular barcoding results obtained in 69 processed fish products belonging to 27 teleost species traded in Italian commercial markets during 2008. DNA barcoding using direct sequencing of about 900 bp of mitochondrial genes cytochrome oxidase subunit I (COI) and cytochrome b (Cyt b) revealed uncorrect labelling in 22 samples (32%). Among substituted species, 18 (26%) were serious frauds under both economic and nutritional points of view. In some cases, frauds concerned species of major conservation regard and reported in the IUCN and CITES directories. Results add further concern on the trading of processed fish products in Italy from both health and conservation points of view.
Food Research International.
-
[show abstract]
[hide abstract]
ABSTRACT: Molecular polymorphisms (allozyme and amplified fragment length polymorphisms (AFLP)) were investigated in the mullet specie's Liza ramada and Liza saliens to determine levels of genetic variability and assess possible correlations between the population genetic structure and the specie's adaptability to shallow water environments. The thinlipped (L. ramada) and the sharpnose (L. saliens) mullets are diadromous species that enter coastal lagoons during early life stages to complete growth previous to sexual maturation. Bi-monthly samples (n = 30–50) were collected in the period 2000–2002 in different sites of the Sacca di Goro (Po river delta) and a nearby aquaculture lagoon (Valle Bertuzzi). Biochemical analyses were carried out by means of starch gel electrophoresis (SGE) on 24 genetic loci corresponding to 15 gene–enzyme systems. In addition, molecular species-specific AFLP (15 primer combinations) were obtained by means of capillary electrophoresis. The degree of allozyme variability determined at three polymorphic loci, GPI-A, GPI-B and G3PDH in L. saliens and L. ramada (polymorphic loci P = 0.08; mean heterozygosity H = 0.010–0.022) and AFLP diversity (P = 0.110–0.430), seems lower than the one reported in the literature for ecologically similar teleost species. The identification of diagnostic alleles at GPI-A, G3PDH, AK-2, CK-A, CK-B, AAT, IDH, PGM-1, PGM-2 loci in the two mullet species was used for the taxonomic classification of L. saliens and L. ramada. Molecular taxonomy (allozyme and AFLP) demonstrated that the presence of small individuals inside the lagoons previously identified according to morphological characters has often been misinterpreted. The results are discussed in relation to the adaptive role of genetic variation and the migratory characteristics of Mugilidae.RésuméLe polymorphisme moléculaire (systèmes enzymatiques et la technique AFLP (amplified fragment length polymorphisms)) a été étudié chez deux espèces de mulets, Liza ramada et Liza saliens de manière à estimer la variabilité génétique et à vérifier les éventuelles corrélations entre la structure génétique de la population et l’adaptabilité des espèces en eaux peu profondes. Le mulet à lèvres fines L. ramada et le mulet à net pointu L. saliens sont des espèces diadromes qui pénètrent dans les lagunes côtières pendant les premiers stades de leur vie pour s’y nourrir et grandir avant d’atteindre la maturité sexuelle. Des prélèvements ont été effectués chaque deux mois de 2000 à 2002 à différentes stations de la « Sacca di Goro » (delta du Pô) et dans une lagune voisine utilisée pour l’aquaculture (Valle Bertuzzi). Les analyses biochimiques par électrophorèse sur gel d’amidon ont été conduites sur 24 locus génétiques correspondant à 15 systèmes gènes-enzymes. De plus, ont été réalisés des profils moléculaires (15 combinaisons primaires) par une électrophorèse capillaire s’appuyant sur la technique AFLP. Le degré de variabilité des systèmes enzymatiques déterminé aux trois locus polymorphiques GPI-A, GPI-B et G3PDH pour L. saliens et pour L. ramada (P = 0,08 ; H = 0,010–0,022) et la diversité AFLP (P = 0,110–0,430) semble inférieur comparé aux données de la littérature portant sur des poissons écologiquement semblables. L’identification d’allèles caractéristiques aux locus des systèmes PGI-A, G3PDH, AK-2, CK-A, CK-B, AAT, IDH, PGM-1, PGM-2 pour les deux espèces a été utilisée pour la classification taxinomique. Cette taxinomie moléculaire prouve que la présence de petits individus dans la lagune, identifiés précédemment sur la base de caractères morphologiques, a souvent été mal interprétée. Les résultats sont discutés par rapport au rôle adaptatif de la diversité génétique et aux caractéristiques migratoires des Mugilidae.
Oceanologica Acta. 26(1):121-128.
