27 results on '"SCOTTI, EMILIO"'
Search Results
2. Association between polymorphisms in cathepsin and cystatin genes with meat production and carcass traits in Italian Duroc pigs: confirmation of the effects of a cathepsin L (CTSL) gene marker
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Fontanesi, Luca, Speroni, Camilla, Buttazzoni, Luca, Scotti, Emilio, Dall’Olio, Stefania, Davoli, Roberta, and Russo, Vincenzo
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- 2012
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3. The porcine TBC1D1 gene: mapping, SNP identification, and association study with meat, carcass and production traits in Italian heavy pigs
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Fontanesi, Luca, Colombo, Michela, Tognazzi, Lucia, Scotti, Emilio, Buttazzoni, Luca, Dall’Olio, Stefania, Davoli, Roberta, and Russo, Vincenzo
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- 2011
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4. A single nucleotide polymorphism in the porcine cathepsin K (CTSK) gene is associated with back fat thickness and production traits in Italian Duroc pigs
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Fontanesi, Luca, Scotti, Emilio, Buttazzoni, Luca, Dall’Olio, Stefania, Davoli, Roberta, and Russo, Vincenzo
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- 2010
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5. Confirmed association between a single nucleotide polymorphism in the FTO gene and obesity-related traits in heavy pigs
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Fontanesi, Luca, Scotti, Emilio, Buttazzoni, Luca, Dall’Olio, Stefania, Bagnato, Alessandro, Lo Fiego, Domenico Pietro, Davoli, Roberta, and Russo, Vincenzo
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- 2010
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6. A genome wide association study for backfat thickness in Italian Large White pigs highlights new regions affecting fat deposition including neuronal genes
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Fontanesi Luca, Schiavo Giuseppina, Galimberti Giuliano, Calò Daniela, Scotti Emilio, Martelli Pier, Buttazzoni Luca, Casadio Rita, and Russo Vincenzo
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GWA ,Backfat ,Fatness ,Obesity ,Heavy pig ,Biotechnology ,TP248.13-248.65 ,Genetics ,QH426-470 - Abstract
Abstract Background Carcass fatness is an important trait in most pig breeding programs. Following market requests, breeding plans for fresh pork consumption are usually designed to reduce carcass fat content and increase lean meat deposition. However, the Italian pig industry is mainly devoted to the production of Protected Designation of Origin dry cured hams: pigs are slaughtered at around 160 kg of live weight and the breeding goal aims at maintaining fat coverage, measured as backfat thickness to avoid excessive desiccation of the hams. This objective has shaped the genetic pool of Italian heavy pig breeds for a few decades. In this study we applied a selective genotyping approach within a population of ~ 12,000 performance tested Italian Large White pigs. Within this population, we selectively genotyped 304 pigs with extreme and divergent backfat thickness estimated breeding value by the Illumina PorcineSNP60 BeadChip and performed a genome wide association study to identify loci associated to this trait. Results We identified 4 single nucleotide polymorphisms with P≤5.0E-07 and additional 119 ones with 5.0E-07 Conclusions Further investigations are needed to evaluate the effects of the identified single nucleotide polymorphisms associated with backfat thickness on other traits as a pre-requisite for practical applications in breeding programs. Reported results could improve our understanding of the biology of fat metabolism and deposition that could also be relevant for other mammalian species including humans, confirming the role of neuronal genes on obesity.
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- 2012
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7. A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus)
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Russo Vincenzo, Deretz Séverine, Dall'Olio Stefania, Forestier Lionel, Beretti Francesca, Colombo Michela, Scotti Emilio, Fontanesi Luca, Allain Daniel, and Oulmouden Ahmad
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Genetics ,QH426-470 - Abstract
Abstract Background In the domestic rabbit (Oryctolagus cuniculus), classical genetic studies have identified five alleles at the Extension locus: ED (dominant black), ES (steel, weaker version of ED), E (wild type, normal extension of black), eJ(Japanese brindling, mosaic distribution of black and yellow) and e (non-extension of black, yellow/red with white belly). Sequencing almost the complete coding sequence (CDS) of the rabbit MC1R gene, we recently identified two in-frame deletions associated with dominant black (c.280_285del6; alleles ED or ES) and recessive red (c.304_333del30; allele e) coat colours. It remained to characterize the eJallele whose phenotypic effect is similar to the Orange and Sex-linked yellow loci of cat and Syrian hamster. Results We sequenced the whole CDS in 25 rabbits of different coat colours including 10 Japanese and 10 Rhinelander (tricolour) rabbits and identified another 6 bp-in frame deletion flanked by a G > A transition in 5' (c.[124G>A;125_130del6]) that was present in all animals with Japanese brindling coat colour and pattern. These mutations eliminate two amino acids in the first transmembrane domain and, in addition, cause an amino acid substitution at position 44 of the wild type sequence. Genotyping 371 rabbits of 31 breeds with different coat colour this allele (eJ) was present in homozygous state in Japanese, Rhinelander and Dutch tricolour rabbits only (except one albino rabbit). Rabbits with eJ/eJ genotype were non fixed at the non-agouti mutation we previously identified in the ASIP gene. Segregation in F1 and F2 families confirmed the order of dominance already determined by classical genetic experiments with a possible dose effect evident comparing eJ/eJ and eJ/e animals. MC1R mRNA was expressed in black hair skin regions only. Conclusions The c.[124A;125_130del6] allele may be responsible for a MC1R variant determining eumelanin production in the black areas. However, the mechanism determining the presence of both red and black hairs in the same animal seems more complex. Expression analyses of the c.[124A;125_130del6] allele suggest that MC1R transcription may be regulated epigenetically in rabbits with the Japanese brindling phenotype. Further studies are needed to clarify this issue.
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- 2010
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8. Effects of single nucleotide polymorphisms and haplotypes of the protein kinase AMP-activated non-catalytic subunit gamma 3 (PRKAG3) gene on production, meat quality and carcass traits in Italian Large White pigs.
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Dall'Olio, Stefania, Scotti, Emilio, Costa, Leonardo Nanni, and Fontanesi, Luca
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SINGLE nucleotide polymorphisms , *HAPLOTYPES , *PROTEIN kinases , *MEAT quality , *SWINE carcasses - Abstract
PRKAG3 is a major gene for meat quality and production in pigs. In this study, we investigated two single nucleotide polymorphisms (SNPs) of the PRKAG3 promoter region (g.-995A>G and g.-311A>G) in 381 pigs of different breeds. Association between these SNPs and three major haplotypes, constructed including other three substitutions (c.89C>A, c.154A>G and c.595G>A) and different traits (meat quality parameters: pH 2h , pH u , glycogen and lactate content, glycolytic potential and cathepsin B activity of Semimembranosus muscle; estimated breeding values and random residuals for growth performances and carcass traits) were analysed in 271 Italian Large White performance tested pigs. A significant effect ( P = 0.043) of the g.-995A>G SNP on cathepsin B activity and a suggestive effect ( P = 0.067) of the g.-311A>G SNP on pH u were found. The haplotype [g.-995G:g.-311G:c.89A:c.154G:c.595G] was associated with pH u ( P = 0.024), glycolytic potential ( P = 0.040) and cathepsin B activity ( P = 0.086). This study on haplotypes, including promoter region SNPs, contribute to explain the effect of this gene on meat quality traits in pigs. [ABSTRACT FROM AUTHOR]
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- 2018
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9. Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds
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FONTANESI, LUCA, SCOTTI, EMILIO, RUSSO, VINCENZO, Fontanesi L., Scotti E., and Russo V.
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Male ,MITF ,Microphthalmia-Associated Transcription Factor ,Polymorphism, Genetic ,Genotyping Techniques ,Pigmentation ,Molecular Sequence Data ,Quantitative Trait Loci ,Chromosome Mapping ,CATTLE BREEDS ,Polymerase Chain Reaction ,Polymorphism, Single Nucleotide ,Pedigree ,PIEBALDISM ,COAT COLOUR ,Phenotype ,Gene Frequency ,Haplotypes ,Italy ,Species Specificity ,Animals ,Cattle ,Female ,Sequence Alignment ,Phylogeny - Abstract
Candidate gene analysis, quantitative trait locus mapping in outbreed and experimental cross-populations and a genomewide association study in Holstein have reported that a few chromosome regions contribute to great variability in the degree of white/black spotting in cattle. In particular, an important region affecting this trait was localized on bovine chromosome 22 in the region containing the microphthalmia-associated transcription factor (MITF) gene. We sequenced a total of 7258 bp of the MITF gene in 40 cattle of different breeds, including 20 animals from spotted breeds (10 Italian Holstein and 10 Italian Simmental) and 20 animals from solid coloured breeds (10 Italian Brown and 10 Reggiana), and identified 17 single nucleotide polymorphisms (SNPs). The allele frequencies of one polymorphism (g.32386957AT) were clearly different between spotted (A = 0.875; T = 0.125) and non-spotted breeds (A = 0.125; T = 0.875) (P = 8.2E-12). This result was confirmed by genotyping additional animals of these four breeds (P1.0E-20). A total of 21 different haplotypes were inferred from the sequenced animals. Considering similarities among haplotypes, spotted and non-spotted groups of cattle showed significant differences in their haplotype distribution (P = 0.001), which was further supported by the analysis of molecular variance (amova) of two genotyped SNPs in an enlarged sample of cattle. Variability in the MITF gene clearly explained the differences between spotted and non-spotted phenotypes but, at the same time, it is evident that this gene is not the only genetic factor determining piebaldism in Italian Holstein and Italian Simmental cattle breeds.
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- 2012
10. Identification and association analysis of several hundred single nucleotide polymorphisms within candidate genes for back fat thickness in Italian Large White pigs using a selective genotyping approach
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FONTANESI, LUCA, GALIMBERTI, GIULIANO, CALO', DANIELA GIOVANNA, FRONZA, RAFFAELE, MARTELLI, PIER LUIGI, SCOTTI, EMILIO, COLOMBO, MICHELA, SCHIAVO, GIUSEPPINA, CASADIO, RITA, RUSSO, VINCENZO, Buttazzoni L, Fontanesi L, Galimberti G, Calò DG, Fronza R, Martelli PL, Scotti E, Colombo M, Schiavo G, Casadio R, Buttazzoni L, and Russo V
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Genetic Markers ,obesity ,Genotype ,selective genotyping ,Swine ,candidate gene ,DNA ,Genomics ,back fat ,Polymorphism, Single Nucleotide ,single nucleotide polymorphisms ,Adipose Tissue ,Gene Expression Regulation ,Body Composition ,Animals - Abstract
Combining different approaches (resequencing of portions of 54 obesity candidate genes, literature mining for pig markers associated with fat deposition or related traits in 77 genes, and in silico mining of porcine expressed sequence tags and other sequences available in databases), we identified and analyzed 736 SNP within candidate genes to identify markers associated with back fat thickness (BFT) in Italian Large White sows. Animals were chosen using a selective genotyping approach according to their EBV for BFT (276 with most negative and 279 with most positive EBV) within a population of similar to 12,000 pigs. Association analysis between the SNP and BFT has been carried out using the MAX test proposed for case-control studies. The designed assays were successful for 656 SNP: 370 were excluded (low call rate or minor allele frequency A polymorphism (P-nominal < 1.0E-50). The second most significant SNP was the MC4R c.1426A>G polymorphism (P-nominal = 8.0E-05). The third top SNP (P-nominal = 6.2E04) was the intronic TBC1D1 g.219G>A polymorphic site, in agreement with our previous results obtained in an independent study. The list of significant markers also included SNP in additional genes (ABHD16A, ABHD5, ACP2, ALMS1, APOA2, ATP1A2, CALR, COL14A1, CTSF, DARS, DECR1, ENPP1, ESR1, GH1, GHRL, GNMT, IKBKB, JAK3, MTTP, NFKBIA, NT5E, PLAT, PPARG, PPP2R5D, PRLR, RRAGD, RFC2, SDHD, SERPINF1, UBE2H, VCAM1, and WAT). Functional relationships between genes were obtained using the Ingenuity Pathway Analysis (IPA) Knowledge Base. The top scoring pathway included 19 genes with a P-nominal < 0.1, 2 of which (IKBKB and NFKBIA) are involved in the hypothalamic IKK beta/NF kappa B program that could represent a key axis to affect fat deposition traits in pigs. These results represent a starting point to plan marker-assisted selection in Italian Large White nuclei for BFT. Because of similarities between humans and pigs, this study might also provide useful clues to investigate genetic factors affecting human obesity.
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- 2012
11. Genetic heterogeneity and selection signature at the KIT gene in pigs showing different coat colours and patterns
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FONTANESI, LUCA, SCOTTI, EMILIO, RUSSO, VINCENZO, D'Alessandro E., Liotta L., Crovetti A., Chiofalo V., Fontanesi L., D'Alessandro E., Scotti E., Liotta L., Crovetti A., Chiofalo V., and Russo V.
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PIG ,Genetic Heterogeneity ,Proto-Oncogene Proteins c-kit ,COAT COLOUR ,Polymorphism, Genetic ,Swine ,SNP ,Animals ,KIT ,SELECTION SIGNATURE ,Selection, Genetic ,Hair Color ,Receptor, Melanocortin, Type 1 - Abstract
Mutations in the porcine KIT gene (Dominant white locus) have been shown to affect coat colours and colour distribution in pigs. We analysed this gene in several pig breeds and populations (Sicilian black, completely black or with white patches; Cinta Senese; grey local population; Large White; Duroc; Hampshire; Pietrain; wild boar; Meishan) with different coat colours and patterns, genotyping a few polymorphisms. The 21 exons and parts of the intronic regions were sequenced in these pigs and 69 polymorphisms were identified. The grey-roan coat colour observed in a local grey population was completely associated with a 4-bp deletion of intron 18 in a single copy KIT gene, providing evidence that this mutation characterizes the I(d) allele described in the early genetic literature. The white patches observed in black Sicilian pigs were not completely associated with the presence of a duplicated KIT allele (I(p) ), suggesting that genetic heterogeneity is a possible cause of different coat colours in this breed. Selection signature was evident at the KIT gene in two different belted pig breeds, Hampshire and Cinta Senese. The same mutation(s) may cause the belted phenotype in these breeds that originated in the 18th-19th centuries from English pigs (Hampshire) and in Tuscany (Italy) in the 14th century (Cinta Senese). Phylogenetic relationships of 28 inferred KIT haplotypes indicated two clades: one of Asian origin that included Meishan and a few Sicilian black haplotypes and another of European origin.
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- 2010
12. Internal medicine network: a new way of thinking hospital-territory integration and public-private partnership.
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Pietrantonio, Filomena and Scotti, Emilio
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INTERNAL medicine , *HOSPITAL admission & discharge , *PUBLIC-private sector cooperation , *PATIENT-centered care , *MEDICAL care costs - Abstract
This working proposal aims to establish an Internal Medicine Network (IMN) model for the appropriate management of the poly-pathological complex patient in the different phases of his illness natural hystory. The IMN is based on an organization recalling the Hub and Spoke system already used for existing specialized networks. The Internal Medicine Unit (IMU) is the natural destination of acutely ill patients suffering from systemic or multi-organ diseases. Three are the IMU specific tasks: i) to stabilize acute, severe, poly-pathologic and complex patients; ii) to develop difficult etiological diagnosis in these patients and in those who should necessarily be admitted to the hospital, not being possible, for different reasons, alternative routes; iii) to select the acute poly-pathological complex patient's priorities. The expected results of a new model of integration system inside the IMN are: i) reduction and rationalization of expenditure in the medical area, increasing effectiveness, quality and safety guaranteeing patient centrality; ii) patients stratification based on characteristics of gravity, acute illness, estimated duration of hospitalization; iii) reduction of inappropriate hospital admissions ensuring connections between hospital and primary care units; iv) definition of different care pathways for patients hospitalized due to non-communicable diseases; v) implementation of new common medical records. The public-private partnership inside the IMN could be able to increase appropriateness reducing health costs. Patient-centered problems assessment, together with integration, cooperation, coordination and effective communication are some simple rules useful to achieve tangible results in a complex system and the IMN model represents its practical application. [ABSTRACT FROM AUTHOR]
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- 2017
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13. Identification of Polymorphisms in the Rabbit Growth Hormone Receptor ( GHR ) Gene and Association with Finishing Weight in a Commercial Meat Rabbit Line.
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Fontanesi, Luca, Sparacino, Giuseppe, Utzeri, Valerio Joe, Scotti, Emilio, Fornasini, Daniela, Dall'Olio, Stefania, and Frabetti, Andrea
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SOMATOTROPIN receptors ,SINGLE nucleotide polymorphisms ,GENETIC markers ,GENETIC mutation ,RABBITS ,MEAT industry - Abstract
A shortcut to identify DNA markers associated with economic traits is to use a candidate gene approach that is still useful in livestock species in which molecular tools and resources are not advanced or not well developed. Mutations in the growth hormone receptor (GHR) gene associated with production traits have been already described in several livestock species. For this reasonGHRcould be an interesting candidate gene in the rabbit. In this study we re-sequenced all exons and non-coding regions of the rabbitGHRgene in a panel of 10 different rabbits and identified 10 single nucleotide polymorphisms (SNPs). One of them (g.63453192C>G or c.106C>G), located in exon 3 was a missense mutation (p.L36V) substituting an amino acid in a highly conserved position across all mammals. This mutation was genotyped in 297 performance tested rabbits of a meat male line and association analysis showed that the investigated SNP was associated with weight at 70 days (P < 0.05). The most frequent genotype (GG) was in animals with higher weight at this age, suggesting that the high directional selection pressure toward this trait since the constitution of the genotyped line might have contributed to shape allele frequencies at this polymorphic site. [ABSTRACT FROM AUTHOR]
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- 2016
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14. The change of hospital internal medicine: a study on patients admitted in internal medicine wards of 8 hospitals of the Lazio area, Italy.
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Recine, Umberto, Scotti, Emilio, Bruzzese, Vincenzo, D'Amore, Francesco, Manfellotto, Dario, Simonelli, Ilaria, and Pastorelli, Ruggero
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INTERNAL medicine , *HOSPITAL admission & discharge , *SOCIODEMOGRAPHIC factors , *MEDICAL care , *HEALTH outcome assessment , *PHYSICIANS - Abstract
The hospital internal medicine (IM) needs to adapt to the socio-demographic changes occurred during the last thirty years: patients currently show an increased overall complexity owing to the increase in the average age of the patients admitted, to more several and severe comorbidities, and a higher concentration in our wards of most severe cases. Our departments have to change in order to pursue a more efficient organization and to offer care to users modulated according to their needs and conditions. The Intensity of Care in Internal Medicine Group of the Federation of Associations of Hospital Doctors on Internal Medicine - Lazio carried out a population-based study in eight Internal Medicine wards of the region with the aim of characterizing the patients there admitted, using the modified early warning score (mEWS), monitoring and evaluating the outcomes of hospitalization. This has allowed us to determine the cut-off of the score indicating a greater statistical probability of a fatal outcome corresponding to 3, contrary to what originally reported by Subbe et al. in 2001. According to our results into the Departments of IM should be provided an area of high care, where monitor and stabilize the patients admitted with a mEWS score ≥ 3, before transferring them to the wards of lower intensity of care. This organizational model of the high care of medical patients has the benefit of offer the technical and professional assistance appropriate to the level of clinical risk, with more intensive care to more critical stages of illness. [ABSTRACT FROM AUTHOR]
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- 2015
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15. Next Generation Semiconductor Based-Sequencing of a Nutrigenetics Target Gene ( GPR120 ) and Association with Growth Rate in Italian Large White Pigs.
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Fontanesi, Luca, Bertolini, Francesca, Scotti, Emilio, Schiavo, Giuseppina, Colombo, Michela, Trevisi, Paolo, Ribani, Anisa, Buttazzoni, Luca, Russo, Vincenzo, and Dall'Olio, Stefania
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SWINE ,SEMICONDUCTORS ,NUTRITIONAL genomics ,SINGLE nucleotide polymorphisms ,OMEGA-3 fatty acids ,DNA - Abstract
TheGPR120gene (also known asFFAR4orO3FAR1) encodes for a functional omega-3 fatty acid receptor/sensor that mediates potent insulin sensitizing effects by repressing macrophage-induced tissue inflammation. For its functional role,GPR120could be considered a potential target gene in animal nutrigenetics. In this work we resequenced the porcineGPR120gene by high throughput Ion Torrent semiconductor sequencing of amplified fragments obtained from 8 DNA pools derived, on the whole, from 153 pigs of different breeds/populations (two Italian Large White pools, Italian Duroc, Italian Landrace, Casertana, Pietrain, Meishan, and wild boars). Three single nucleotide polymorphisms (SNPs), two synonymous substitutions and one in the putative 3′-untranslated region (g.114765469C > T), were identified and their allele frequencies were estimated by sequencing reads count. The g.114765469C > T SNP was also genotyped by PCR-RFLP confirming estimated frequency in Italian Large White pools. Then, this SNP was analyzed in two Italian Large White cohorts using a selective genotyping approach based on extreme and divergent pigs for back fat thickness (BFT) estimated breeding value (EBV) and average daily gain (ADG) EBV. Significant differences of allele and genotype frequencies distribution was observed between the extreme ADG-EBV groups (P < 0.001) whereas this marker was not associated with BFT-EBV. [ABSTRACT FROM AUTHOR]
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- 2015
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16. Analysis of the 227 bp short interspersed nuclear element (SINE) insertion of the promoter of the myostatin (MSTN) gene in different horse breeds.
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Dall'Olio, Stefania, Scotti, Emilio, Fontanesi, Luca, and Tassinari, Marco
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- 2014
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17. The KIT Gene Is Associated with the English Spotting Coat Color Locus and Congenital Megacolon in Checkered Giant Rabbits (Oryctolagus cuniculus).
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Fontanesi, Luca, Vargiolu, Manuela, Scotti, Emilio, Latorre, Rocco, Faussone Pellegrini, Maria Simonetta, Mazzoni, Maurizio, Asti, Martina, Chiocchetti, Roberto, Romeo, Giovanni, Clavenzani, Paolo, and De Giorgio, Roberto
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EUROPEAN rabbit ,AMERICAN checkered giant rabbits ,ANIMAL models in research ,NEURONS ,MEGACOLON ,ELECTRON microscopy - Abstract
The English spotting coat color locus in rabbits, also known as Dominant white spotting locus, is determined by an incompletely dominant allele (En). Rabbits homozygous for the recessive wild-type allele (en/en) are self-colored, heterozygous En/en rabbits are normally spotted, and homozygous En/En animals are almost completely white. Compared to vital en/en and En/en rabbits, En/En animals are subvital because of a dilated (“mega”) cecum and ascending colon. In this study, we investigated the role of the KIT gene as a candidate for the English spotting locus in Checkered Giant rabbits and characterized the abnormalities affecting enteric neurons and c-kit positive interstitial cells of Cajal (ICC) in the megacolon of En/En rabbits. Twenty-one litters were obtained by crossing three Checkered Giant bucks (En/en) with nine Checkered Giant (En/en) and two en/en does, producing a total of 138 F1 and backcrossed rabbits. Resequencing all coding exons and portions of non-coding regions of the KIT gene in 28 rabbits of different breeds identified 98 polymorphisms. A single nucleotide polymorphism genotyped in all F1 families showed complete cosegregation with the English spotting coat color phenotype (θ = 0.00 LOD = 75.56). KIT gene expression in cecum and colon specimens of En/En (pathological) rabbits was 5–10% of that of en/en (control) rabbits. En/En rabbits showed reduced and altered c-kit immunolabelled ICC compared to en/en controls. Morphometric data on whole mounts of the ascending colon showed a significant decrease of HuC/D (P<0.05) and substance P (P<0.01) immunoreactive neurons in En/En vs. en/en. Electron microscopy analysis showed neuronal and ICC abnormalities in En/En tissues. The En/En rabbit model shows neuro-ICC changes reminiscent of the human non-aganglionic megacolon. This rabbit model may provide a better understanding of the molecular abnormalities underlying conditions associated with non-aganglionic megacolon. [ABSTRACT FROM AUTHOR]
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- 2014
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18. Investigation of a short interspersed nuclear element polymorphic site in the porcine vertnin gene: allele frequencies and association study with meat quality, carcass and production traits in Italian Large White pigs.
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Fontanesi, Luca, Scotti, Emilio, Buttazzoni, Luca, Dall'Olio, Stefania, and Russo, Vincenzo
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MEAT quality , *SWINE genetics , *GENE frequency , *SWINE carcasses , *SWINE breeds , *GENETIC polymorphisms , *ANIMALS - Abstract
A 291 bp short interspersed nuclear element (SINE) insertion in the porcine vertnin (VRTN) gene on porcine chromosome 7 was shown to affect vertebral number and several production traits: allele Q (with the insertion) increases vertebral number compared to the wild type allele (WT, without insertion). In this study we genotyped this polymorphism in eight pig breeds (Italian Large White, Italian Duroc, Italian Landrace, Cinta Senese, Mora Romagnola, Casertana, Apulo Calabrese, and Nero Siciliano) and in Italian wild boars to evaluate allele frequency distribution of the two alleles. Allele Q was the most frequent in Italian Landrace and Italian Duroc (0.738 and 0.545, respectively) whereas it was the less frequent in all other breeds and was absent in wild boars. Association study was carried out in two Italian Large White samples. These two groups of animals were constituted by performance tested pigs for which estimated breeding values (EBV) and random residuals (RR) for several traits (average daily gain, back fat thickness, feed:gain ratio, lean cuts and ham weight) were calculated: i) 270 pigs chosen without any criteria (random group), that were also measured for several meat quality traits; ii) 560 gilts with extreme and divergent EBV for back fat thickness. For these animals vertebral number was not available. Results of the association analyses indicated that allele Q was associated with a lower ham weight, confirming indirectly, the negative correlation reported by other studies between vertebral number and this trait. No other trait was associated with the analysed VRTN polymorphism. [ABSTRACT FROM AUTHOR]
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- 2014
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19. A Missense Mutation in the Rabbit Melanocortin 4 Receptor (MC4R) Gene is Associated with Finisching Weight in a Meat Rabbit Line.
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Fontanesi, Luca, Scotti, Emilio, Cisarova, Katarina, Battista, PieroDi, Dall'Olio, Stefania, Fornasini, Daniela, and Frabetti, Andrea
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MISSENSE mutation , *MELANOCORTIN receptors , *GENETIC polymorphisms , *LEPORIDAE , *ANIMAL products , *FOOD animals , *MEAT , *COOKING - Abstract
In this study we resequenced 1729 bp of the rabbit melanocortin 4 receptor (MC4 R) gene in 31 rabbits from different breeds/lines and identified ten polymorphisms: one was an indel and 9 were single nucleotide polymorphisms (SNPs). The indel and 5 SNPs were in the 5′-flanking region, 3 were synonymous SNPs and one was a missense mutation (c.101G>A; p.G34D), located in a conserved position of the extracellular tail of the MC4 R protein. The missense mutation was analyzed in a panel of 74 rabbits of different breeds and in 516 performance tested rabbits of a commercial paternal line under selection for growth efficiency. Association analysis indicated that rabbits with the less frequent genotype in this population (DD) had a lighter weight at 70 postnatal days than animals with genotype GD (P < 0.10) and animals with genotype GG (P < 0.05). This is the third study on candidate genes, after those on GH1 and IGF2 that reported a marker associated with finishing weight. Therefore, it seems that a candidate gene approach in rabbit based on previous information accumulated in other livestock species could be useful to identify genes explaining a fraction of variability of performance traits with potential application on rabbit breeding and selection. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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20. The hospital Internal Medicine specialist today: a literature review and strength, weaknesses, opportunity, threats (SWOT) analysis to develop a working proposal.
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Scotti, Emilio and Pietrantonio, Filomena
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MEDICAL specialties & specialists , *INTERNAL medicine , *QUANTITATIVE research , *HOSPITAL emergency services , *INTENSIVE care units ,MEDICAL literature reviews - Abstract
The aim of the paper is to identify the role of the hospital Internal Medicine specialist in the Internal Medicine Unit (IMU) through a clinical and statistical analysis of the patients referred to them by identifying the activities that differentiate them from patients in General Medicine and Emergency Departments, i.e. diagnosis and treatment of complex patient with varying degrees of instability, identifying priorities in the acute problems of co-morbidities. The modified early warning score (MEWS), an internationally validated marker, was chosen to assess and stratify the clinical instability of patients referred to the IMU. A literature review was carried out, and a cut-off score of 3 was chosen to define the critical patients referred to the IMU; a MEWS value of 4 defines the need for transfer to the Intensive Care Unit (ICU) or Intensive Cardiac Care Unit (CCU), considered the primary end point in most of the studies examined. To better characterize the internist’s role today, a strength, weaknesses, opportunity, threats (SWOT) analysis was performed and examined, and commented upon. A total of 101 articles were reviewed and 5 were selected. The case histories relating to the IMU appear to be made up of complex patients with conditions that are, in most cases, acute and unstable. From 10% to 17% of patients present a MEWS of 3 or more that defines a condition of severe clinical instability requiring continuous observation and non-invasive multi-parametric monitoring. From 5% to 7% of cases present a MEWS of 4 or more and therefore require transfer to the ICU/CCU or risk rapid death. Approximately 40% of patients present MEWS of 1-2 and still have disease flare-up, but with a lesser degree of instability; however, these patients could experience a potentially negative disease development if not promptly and properly treated. Approximately 40% of patients have MEWS of 0 and represent the group of fragile patients that cannot be studied, diagnosed or stabilized on an outpatient basis. The critical analysis of the literature review and the SWOT analysis suggest that the two specific hospital internist’s tasks are: i) to stabilize acute, severe and complex patients with multiple pathologies; and ii) to develop etiologically difficult diagnoses in these and in fragile patients who need to be admitted to the hospital because the alternative diagnostic routes, for various reasons, cannot be used. [ABSTRACT FROM AUTHOR]
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- 2013
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21. Analysis of association between a microsatellite at intron 1 of the insulin-like growth factor 1 (IGF1) gene and fat deposition, meat production and quality traits in Italian Large White and Italian Duroc pigs.
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Fontanesi, Luca, Scotti, Emilio, Buttazzoni, Luca, Dall'Olio, Stefania, and Russo, Vincenzo
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ANIMAL population genetics , *MICROSATELLITE repeats , *INTRONS , *SOMATOMEDIN C , *SWINE breeds , *MEAT quality , *GENOTYPES - Abstract
A few studies have shown that a microsatellite at intron 1 of the insulin-like growth factor 1 (IGF1) gene is associated with several production traits in a few pig populations. In the current work we evaluated associations between this microsatellite and production traits in Italian Large White and Italian Duroc pigs. Association studies were carried out on a total of 1120 animals using two experimental designs: i) a selective genotyping approach based on extreme and divergent Italian Large White pigs for back fat thickness (BFT) estimated breeding value (EBV) or on extreme and divergent Italian Duroc pigs for visible intermuscular fat (VIF) EBV; and ii) analysis of unselected pigs (random groups) coming from populations of the two breeds. Allele distributions between Italian Large White and Italian Duroc pigs were different (P<0.05) with longer alleles being more frequent in Italian Large White. Results of the association analyses from two different random groups showed that this marker affects average daily gain EBV, lean cut EBV and BFT EBV in Italian Large White and BFT EBV in Italian Duroc (P<0.05). Association analysis carried out with random residuals confirmed, to some extent (P=0.096), the effects on BFT in the same animals. However, this result was not confirmed in the two extreme and divergent Italian Large White groups used in the selective genotyping experexperiment. These inconsistent results may indicate that the effect of the IGF1 microsatellite is doubtful in the investigated finishing pigs. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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22. A selective genotyping approach identifies single nucleotide polymorphisms in porcine chromosome 2 genes associated with production and carcass traits in Italian heavy pigs.
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Fontanesi, Luca, Scotti, Emilio, Speroni, Camilla, Buttazzoni, Luca, and Russo, Vincenzo
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SINGLE nucleotide polymorphisms , *SWINE carcasses , *SWINE genetics , *QUANTITATIVE genetics , *SOMATOMEDIN A , *LACTATE dehydrogenase , *CATHEPSINS - Abstract
Several studies have shown that porcine chromosome 2 (SSC2) harbors important quantitative trait loci (QTL) for production traits. In particular, an imprinted QTL for muscle mass production is determined by a mutation in the IGF2 gene (intron3-g.3072G>A). We recently identified and analysed single nucleotide polymorphisms (SNPs) in genes (cathepsin D, CTSD g.70G>A; cathepsin F, CTSF g.22G>C; lactate dehydrogenase A, LDHA g.46G>T) localized on SSC2 (including the IGF2 intron3-g.3072G>A SNP) showing association with production traits in Italian Large White pigs and/or localizing them on QTL regions. Here we analysed these markers applying a selective genotyping approach based on estimated breeding values (EBVs). Three groups of Italian Large White pigs each made by animals with the most positive (n. 50) and most negative (n. 50) EBVs for average daily gain (ADG), backfat thickness (BFT) or weight of lean cuts (LC) and one group of Italian Duroc pigs made by 50 animals with most positive and 50 animals with most negative EBV for visible intermuscular fat (VIF) were genotyped. In Italian Large White pigs, allele frequency differences for the IGF2 intron3-g.3072G>A SNP between the two extreme tails for all groups were highly significant (considering all analysed animals: P=9.53E-20 for LC; P=3.16E-15 for BFT; P=4.41E-6 for ADG). Significant allele frequency differences were also observed for the CTSD g.70G>A (P=0.0002 for ADG; P=0.00068) and LDHA g.46G>T (P=2.32E-5 for ADG) polymorphisms. These results provide further support on the effects of these polymorphisms or genes whose application on marker assisted selection programs could be envisaged. [ABSTRACT FROM AUTHOR]
- Published
- 2011
- Full Text
- View/download PDF
23. Analysis of SNPs in the KIT gene of cattle with different coat colour patterns and perspectives to use these markers for breed traceability and authentication of beef and dairy products.
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Fontanesi, Luca, Scotti, Emilio, and Russo, Vincenzo
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DOMESTIC animals , *CATTLE breeds , *DAIRY products , *NUCLEOTIDES , *ANALYSIS of variance , *ARTIFICIAL insemination of cattle , *HETEROZYGOSITY , *GENETIC markers , *POLYMORPHISM (Zoology) - Abstract
The identification of the breed of origin of farm animals has recently assumed particular relevance, since increasing interests in marketing mono-breed labelled lines of beef and dairy products have in fact created the need to protect them from frauds. In order to develop DNA based breed traceability and authentication protocols, the first step is the identification of breed specific markers with high discriminatory power among breeds. We analysed two single nucleotide polymorphisms (SNP) identified in exon 2 (g.72779776C>T) and exon 3 (g.72783182A>G) of the KIT gene (a candidate gene for the spotting locus) in seven cattle breeds with different coat colour patterns (Italian Holstein-Friesian, no. = 61; Italian Brown, no. = 60; Italian Simmental, no. = 78; Jersey, no. = 60; Rendena, no. = 51; Reggiana, no. = 128; and Modenese, no. = 52). The two alleles of both SNPs were detected in all analysed breeds making their use unsuitable in breed traceabilty with a deterministic approach. Italian Simmental was almost fixed for the most common alleles (g.72779776C and g.72783182A). Haplotype analysis showed that spotted breeds (Italian Holstein-Friesian and Italian Simmental) had only two haplotypes, of which one ([C:A]) with high frequency (90% and 99%, respectively). Analysis of molecular variance (AMOVA) averaged over the two markers indicated that genetic variation between spotted and non-spotted groups of breeds amounted to 25.3% (P<0.05), supporting a possible involvement of the KIT gene in influencing the spotted phenotype, but probably not determining it, as we previously suggested. Pairwise Fst values indicated significant differences among almost all pair of investigated breeds. The high discriminatory power of the analysed SNPs is an important characteristic for the inclusion of these markers in SNP panels useful for breed allocation and traceability based on probabilistic approaches. [ABSTRACT FROM AUTHOR]
- Published
- 2010
- Full Text
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24. DGAT1 p.K232A polymorphism in diary and dual purpose Italian cattle breeds.
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Scotti, Emilio, Fontanesi, Luca, Schiavini, Fausta, La Mattina, Valeria, Bagnato, Alessandro, and Russo, Vincenzo
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GENETIC polymorphisms , *CATTLE breeding , *HOLSTEIN-Friesian cattle , *SIMMENTAL cattle , *GENOTYPE-environment interaction , *HETEROZYGOSITY , *ARTIFICIAL insemination of cattle , *ANIMAL breeding - Abstract
The aim of this study was to evaluate the allele frequency distribution at the DGAT1 p.K232A polymorphic site in seven Italian dairy and dual purpose cattle breeds. On the whole, 651 animals belonging to Italian Holstein (116), Italian Brown (105), Italian Simmental (95), Valdostana Red Pied (95), Rendena (62), Reggiana (128) and Modenese (50) breeds were genotyped by PCR-RFLP. Sequencing was carried out to confirm results of the genotyping protocol. The DGAT1 p.232K allele was identified in Italian Holstein (25.4%), Reggiana (17.2%), and with very low frequency in Italian Simmental, Valdostana Red Pied and Rendena (<1%). In Italian Brown and Modenese, this allele was not detected. These results indicated that this polymorphic site can be considered for association studies only in Italian Holstein and Reggiana breeds. Deviation from Hardy- Weinberg equilibrium was observed in the Reggiana breed (P<0.01) in which there was an excess of heterozygous sires and absence of animals with the p.232KK genotype. This result should be further evaluated because the analysed sires represented almost all bulls available for artificial insemination in this breed. Comparison of allele frequencies at the DGAT1 locus with several other Holstein populations showed a wide range of variability, probably due to different selection strategies adopted. [ABSTRACT FROM AUTHOR]
- Published
- 2010
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25. A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus).
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Fontanesi, Luca, Scotti, Emilio, Colombo, Michela, Beretti, Francesca, Forestier, Lionel, Dall'Olio, Stefania, Deretz, Séverine, Russo, Vincenzo, Allain, Daniel, and Oulmouden, Ahmad
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LABORATORY rabbits ,GENETIC mutation ,AMINO acids ,ORGANIC acids - Abstract
Background: In the domestic rabbit (Oryctolagus cuniculus), classical genetic studies have identified five alleles at the Extension locus: E
D (dominant black), ES (steel, weaker version of ED ), E (wild type, normal extension of black), ... (Japanese brindling, mosaic distribution of black and yellow) and e (non-extension of black, yellow/red with white belly). Sequencing almost the complete coding sequence (CDS) of the rabbit MC1R gene, we recently identified two in-frame deletions associated with dominant black (c.280_285del6; alleles ED or ES ) and recessive red (c.304_333del30; allele e) coat colours. It remained to characterize the ... allele whose phenotypic effect is similar to the Orange and Sex-linked yellow loci of cat and Syrian hamster. Results: We sequenced the whole CDS in 25 rabbits of different coat colours including 10 Japanese and 10 Rhinelander (tricolour) rabbits and identified another 6 bp-in frame deletion flanked by a G > A transition in 5' (c. [124G>A;125_130del6]) that was present in all animals with Japanese brindling coat colour and pattern. These mutations eliminate two amino acids in the first transmembrane domain and, in addition, cause an amino acid substitution at position 44 of the wild type sequence. Genotyping 371 rabbits of 31 breeds with different coat colour this allele (...) was present in homozygous state in Japanese, Rhinelander and Dutch tricolour rabbits only (except one albino rabbit). Rabbits with .../... genotype were non fixed at the non-agouti mutation we previously identified in the ASIP gene. Segregation in F1 and F2 families confirmed the order of dominance already determined by classical genetic experiments with a possible dose effect evident comparing .../... and .../e animals. MC1R mRNA was expressed in black hair skin regions only. Conclusions: The c.[124A;125_130del6] allele may be responsible for a MC1R variant determining eumelanin production in the black areas. However, the mechanism determining the presence of both red and black hairs in the same animal seems more complex. Expression analyses of the c.[124A;125_130del6] allele suggest that MC1R transcription may be regulated epigenetically in rabbits with the Japanese brindling phenotype. Further studies are needed to clarify this issue. [ABSTRACT FROM AUTHOR]- Published
- 2010
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26. Molecular and Pathological Characterization of a Non-Aganglionic Congenital Megacolon in the Rabbit.
- Author
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Fontanesi, Luca, Vargiolu, Manuela, Scotti, Emilio, Faussone-Pellegrini, Maria Simonetta, Clavenzani, Paolo, Asti, Martina, Mazzoni, Maurizio, Latorre, Rocco, Chiocchetti, Roberto, Loche, Elena, Naponelli, Valeria, Russo, Vincenzo, Stanghellini, Vincenzo, Corinaldesi, Roberto, and De Giorgio, Roberto
- Published
- 2011
- Full Text
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27. The KIT Gene Is Associated with the English Spotting Coat Color Locus and Congenital Megacolon in Checkered Giant Rabbits (Oryctolagus cuniculus).
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Fontanesi, Luca, Vargiolu, Manuela, Scotti, Emilio, Latorre, Rocco, Faussone Pellegrini, Maria Simonetta, Mazzoni, Maurizio, Asti, Martina, Chiocchetti, Roberto, Romeo, Giovanni, Clavenzani, Paolo, and De Giorgio, Roberto
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EUROPEAN rabbit , *AMERICAN checkered giant rabbits , *ANIMAL models in research , *NEURONS , *MEGACOLON , *ELECTRON microscopy - Abstract
The English spotting coat color locus in rabbits, also known as Dominant white spotting locus, is determined by an incompletely dominant allele (En). Rabbits homozygous for the recessive wild-type allele (en/en) are self-colored, heterozygous En/en rabbits are normally spotted, and homozygous En/En animals are almost completely white. Compared to vital en/en and En/en rabbits, En/En animals are subvital because of a dilated (“mega”) cecum and ascending colon. In this study, we investigated the role of the KIT gene as a candidate for the English spotting locus in Checkered Giant rabbits and characterized the abnormalities affecting enteric neurons and c-kit positive interstitial cells of Cajal (ICC) in the megacolon of En/En rabbits. Twenty-one litters were obtained by crossing three Checkered Giant bucks (En/en) with nine Checkered Giant (En/en) and two en/en does, producing a total of 138 F1 and backcrossed rabbits. Resequencing all coding exons and portions of non-coding regions of the KIT gene in 28 rabbits of different breeds identified 98 polymorphisms. A single nucleotide polymorphism genotyped in all F1 families showed complete cosegregation with the English spotting coat color phenotype (θ = 0.00 LOD = 75.56). KIT gene expression in cecum and colon specimens of En/En (pathological) rabbits was 5–10% of that of en/en (control) rabbits. En/En rabbits showed reduced and altered c-kit immunolabelled ICC compared to en/en controls. Morphometric data on whole mounts of the ascending colon showed a significant decrease of HuC/D (P<0.05) and substance P (P<0.01) immunoreactive neurons in En/En vs. en/en. Electron microscopy analysis showed neuronal and ICC abnormalities in En/En tissues. The En/En rabbit model shows neuro-ICC changes reminiscent of the human non-aganglionic megacolon. This rabbit model may provide a better understanding of the molecular abnormalities underlying conditions associated with non-aganglionic megacolon. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
- View/download PDF
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