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Prof. Dr. Gianfranco Cosenza
Department of Agricolture, University of Naples Federico II, via Università 100 Portici (NA), Naples, Italy

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0 Genomics
0 Molecular Genetics
0 candidate genes
0 Association Studies

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Journal article
Published: 01 July 2020 in Journal of Dairy Science
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Lipoprotein lipase (LPL) is a key enzyme for lipid metabolism, playing a fundamental role in the composition of fat in adipose tissue and milk. The LPL gene has been seldom investigated in dairy ruminants and barely studied in river buffalo (Bubalus bubalis). The aim of this work was to explore the genetic diversity of LPL and its promoter and to identify functional mutations, using a combined approach based on sequencing, dual-color electrophoretic mobility shift assay, and quantitative PCR. Thirteen consensus sequences for transcription factors were found in the promoter. Eleven SNP were detected, and the attention was focused on the SNP with potential functional effects: g.-446A>G, because the presence of G created a consensus motif for the transcription factor Sp1, and g.107A>G, which was the only exonic SNP. We developed PCR-RFLP methods for genotyping the 2 SNP and calculated the allele frequencies. A strong linkage disequilibrium (D' = 1; r2 = 0.903) was found between the 2 SNP. The dual-color electrophoretic mobility shift assay demonstrated that only genotype g.-446GG allowed the binding of the Sp1 transcription factor, resulting in overexpression of the gene (~2.5 fold), as confirmed by the quantitative PCR results. Haploinsufficiency is proposed as a regulation mechanism. This study adds further knowledge on the structure of the LPL gene and its expression in river buffalo, with potential effects on milk qualitative and quantitative production.

ACS Style

M. Gu; G. Cosenza; G. Gaspa; M. Iannaccone; N.P.P. Macciotta; G. Chemello; L. Di Stasio; A. Pauciullo. Sequencing of lipoprotein lipase gene in the Mediterranean river buffalo identified novel variants affecting gene expression. Journal of Dairy Science 2020, 103, 6374 -6382.

AMA Style

M. Gu, G. Cosenza, G. Gaspa, M. Iannaccone, N.P.P. Macciotta, G. Chemello, L. Di Stasio, A. Pauciullo. Sequencing of lipoprotein lipase gene in the Mediterranean river buffalo identified novel variants affecting gene expression. Journal of Dairy Science. 2020; 103 (7):6374-6382.

Chicago/Turabian Style

M. Gu; G. Cosenza; G. Gaspa; M. Iannaccone; N.P.P. Macciotta; G. Chemello; L. Di Stasio; A. Pauciullo. 2020. "Sequencing of lipoprotein lipase gene in the Mediterranean river buffalo identified novel variants affecting gene expression." Journal of Dairy Science 103, no. 7: 6374-6382.

Journal article
Published: 20 May 2020 in Animals
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The aim of this study was the characterization of CSN1S1, CSN2 and CSN3 genetic variability in Agerolese cattle, and the investigation of the effect of casein composite genotypes (CSN1S1, CSN2 and CSN3) on quality and coagulation traits of the corresponding milk. To these purposes, blood and milk from 84 cows were sampled and analysed. Allele frequencies at CSN2 and CSN3 revealed no Hardy–Weinberg equilibrium in the population with a prevalence of allele A2 for CSN2 and allele B for CSN3. BBA1A2AB and BBA2A2AB composite genotypes were the most common in the population. BBA1A2AB showed a higher total solids and fat content (12.70 ± 0.16 and 3.93 ± 0.10, respectively), while BBA2A2BB showed the best coagulation properties (RCT 12.62 ± 0.81; k20 5.84 ± 0.37; a30 23.72 ± 1.10). Interestingly, the A2 allele of CSN2 was very widespread in the population; thus, it will be intriguing to verify if A2A2 Agerolese cattle milk and the derived cheese may have better nutraceutical characteristics.

ACS Style

Sara Albarella; Maria Selvaggi; Emanuele D’Anza; Gianfranco Cosenza; Simnonetta Caira; Andrea Scaloni; Annunziata Fontana; Vincenzo Peretti; Francesca Ciotola. Influence of the Casein Composite Genotype on Milk Quality and Coagulation Properties in the Endangered Agerolese Cattle Breed. Animals 2020, 10, 892 .

AMA Style

Sara Albarella, Maria Selvaggi, Emanuele D’Anza, Gianfranco Cosenza, Simnonetta Caira, Andrea Scaloni, Annunziata Fontana, Vincenzo Peretti, Francesca Ciotola. Influence of the Casein Composite Genotype on Milk Quality and Coagulation Properties in the Endangered Agerolese Cattle Breed. Animals. 2020; 10 (5):892.

Chicago/Turabian Style

Sara Albarella; Maria Selvaggi; Emanuele D’Anza; Gianfranco Cosenza; Simnonetta Caira; Andrea Scaloni; Annunziata Fontana; Vincenzo Peretti; Francesca Ciotola. 2020. "Influence of the Casein Composite Genotype on Milk Quality and Coagulation Properties in the Endangered Agerolese Cattle Breed." Animals 10, no. 5: 892.

Journal article
Published: 01 June 2019 in Asian-Australasian Journal of Animal Sciences
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Aim of present study was the set up of a fast and reliable protocol using species-specific markers for the quali-quantitative analysis of DNA and the detection of ruminant biological components in dairy products. For this purpose, the promoter of the gene coding for the α-lactoalbumin (LALBA) was chosen as possible candidate for the presence of short interspersed nuclear elements (SINEs). DNA was isolated from somatic cells of 120 individual milk samples of cattle (30), Mediterranean river buffalo (30), goat (30), and sheep (30) and the gene promoter region (about 600/700 bp) of LALBA (from about 600 bp upstream of exon 1) has been sequenced. For the development of a single polymerase chain reaction (PCR) protocol that allows the simultaneous identification of DNA from the four species of ruminants, the following internal primers pair were used: 5'-CACTGATCTTAAAGCTCAGGTT-3' (forward) and 5'-TCAGA GTAGGCCACAGAAG-3' (reverse). Sequencing results of LALBA gene promoter region confirmed the presence of SINEs as monomorphic "within" and variable in size "among" the selected species. Amplicon lengths were 582 bp in cattle, 592 bp in buffalo, 655 in goat and 729 bp in sheep. PCR specificity was demonstrated by the detection of trace amounts of species-specific DNA from mixed sources (0.25 ng/μL). We developed a rapid PCR protocol for the quali-quantitative analysis of DNA and the traceability of dairy products using a species-specific marker with only one pair of primers. Our results validate the proposed technique as a suitable tool for a simple and inexpensive (economic) detection of animal origin components in foodstuffs.

ACS Style

Gianfranco Cosenza; Marco Iannaccone; Daniela Gallo; Alfredo Pauciullo. A fast and reliable polymerase chain reaction method based on short interspersed nuclear elements detection for the discrimination of buffalo, cattle, goat, and sheep species in dairy products. Asian-Australasian Journal of Animal Sciences 2019, 32, 891 -895.

AMA Style

Gianfranco Cosenza, Marco Iannaccone, Daniela Gallo, Alfredo Pauciullo. A fast and reliable polymerase chain reaction method based on short interspersed nuclear elements detection for the discrimination of buffalo, cattle, goat, and sheep species in dairy products. Asian-Australasian Journal of Animal Sciences. 2019; 32 (6):891-895.

Chicago/Turabian Style

Gianfranco Cosenza; Marco Iannaccone; Daniela Gallo; Alfredo Pauciullo. 2019. "A fast and reliable polymerase chain reaction method based on short interspersed nuclear elements detection for the discrimination of buffalo, cattle, goat, and sheep species in dairy products." Asian-Australasian Journal of Animal Sciences 32, no. 6: 891-895.

Brief note
Published: 12 July 2018 in Animal Genetics
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ACS Style

Marco Iannaccone; Gianfranco Cosenza; Alfredo Pauciullo; Giuseppe Martino; Rosanna Capparelli. The SNP g.4667G>A at 3′-UTR of IFNG gene is associated with susceptibility to bovine tuberculosis in Mediterranean water buffalo (Bubalus bubalis ). Animal Genetics 2018, 49, 496 -497.

AMA Style

Marco Iannaccone, Gianfranco Cosenza, Alfredo Pauciullo, Giuseppe Martino, Rosanna Capparelli. The SNP g.4667G>A at 3′-UTR of IFNG gene is associated with susceptibility to bovine tuberculosis in Mediterranean water buffalo (Bubalus bubalis ). Animal Genetics. 2018; 49 (5):496-497.

Chicago/Turabian Style

Marco Iannaccone; Gianfranco Cosenza; Alfredo Pauciullo; Giuseppe Martino; Rosanna Capparelli. 2018. "The SNP g.4667G>A at 3′-UTR of IFNG gene is associated with susceptibility to bovine tuberculosis in Mediterranean water buffalo (Bubalus bubalis )." Animal Genetics 49, no. 5: 496-497.

Journal article
Published: 22 May 2018 in Journal of Dairy Research
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In this research communication we exploited the potential use of milk microRNAs (miRs) as biomarkers for bovine tuberculosis (bTB). bTB is a zoonotic disease caused by Mycobacterium bovis which affects animal health, influencing herd economic sustainability. Diagnosis is based on skin delayed-type hypersensitivity reaction and quantification of interferon gamma but both techniques are influenced by several confounding factors. Thus, new methods for early diagnosis are required. In this context, microRNAs have been used as promising biomarkers for both infectious and non-infectious diseases. To determine the possible involvement of microRNAs in bTB, we analysed the expression of four immune-related miRs in 200 cows grouped in cases and controls with respect to positivity to tuberculosis. The analysis showed a different magnitude of expression in the groups indicating that active tuberculosis could influence miRs expression. We used expression values of miR-146a, the highest differentially expressed miR, for Receiver operating characteristic (ROC) curve analysis. In order to determine a test cut-off value for miR-146a expression that would differentiate cases and controls, a value for the miR-146a expression higher than 8 was selected as this gave a test specificity and sensitivity of 80·0% and 86·0% respectively. These values confirm the possibility of using miR-146a as a milk prognostic biomarker for bovine tuberculosis.

ACS Style

Marco Iannaccone; Gianfranco Cosenza; Alfredo Pauciullo; Francesca Garofalo; Yolande T Proroga; Federico Capuano; Rosanna Capparelli. Milk microRNA-146a as a potential biomarker in bovine tuberculosis. Journal of Dairy Research 2018, 85, 178 -180.

AMA Style

Marco Iannaccone, Gianfranco Cosenza, Alfredo Pauciullo, Francesca Garofalo, Yolande T Proroga, Federico Capuano, Rosanna Capparelli. Milk microRNA-146a as a potential biomarker in bovine tuberculosis. Journal of Dairy Research. 2018; 85 (2):178-180.

Chicago/Turabian Style

Marco Iannaccone; Gianfranco Cosenza; Alfredo Pauciullo; Francesca Garofalo; Yolande T Proroga; Federico Capuano; Rosanna Capparelli. 2018. "Milk microRNA-146a as a potential biomarker in bovine tuberculosis." Journal of Dairy Research 85, no. 2: 178-180.

Brief note
Published: 23 March 2018 in Animal Genetics
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ACS Style

Gianfranco Cosenza; Roberta Ciampolini; Marco Iannaccone; Daniela Gallo; Barbara Auzino; Alfredo Pauciullo. Sequence variation and detection of a functional promoter polymorphism in the lysozyme c-type gene from Ragusano and Grigio Siciliano donkeys. Animal Genetics 2018, 49, 270 -271.

AMA Style

Gianfranco Cosenza, Roberta Ciampolini, Marco Iannaccone, Daniela Gallo, Barbara Auzino, Alfredo Pauciullo. Sequence variation and detection of a functional promoter polymorphism in the lysozyme c-type gene from Ragusano and Grigio Siciliano donkeys. Animal Genetics. 2018; 49 (3):270-271.

Chicago/Turabian Style

Gianfranco Cosenza; Roberta Ciampolini; Marco Iannaccone; Daniela Gallo; Barbara Auzino; Alfredo Pauciullo. 2018. "Sequence variation and detection of a functional promoter polymorphism in the lysozyme c-type gene from Ragusano and Grigio Siciliano donkeys." Animal Genetics 49, no. 3: 270-271.

Journal article
Published: 01 July 2017 in Journal of Food Composition and Analysis
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The suitability of multivariate factor analysis (MFA) to extract a small number of latent variables\ud able to explain the correlation pattern among fatty acids (FA) in buffalo milk was evaluated. FA\ud profile of milk samples from 214 Italian water buffaloes was analysed by gas chromatography.\ud MFA, performed on the correlation matrix of 52 FA, was able to extract 10 latent factors with\ud specific biological meaning related to a common metabolic origin for FA associated with the same\ud factor. Scores of the factors were treated as new quantitative phenotypes to evaluate the effect of\ud age, month of calving and lactation stage. MFA approach was effective in describing the FA profile\ud of buffalo milk by using a low number of new latent variables that clustered FA having similar\ud metabolic origin and function. The new variables were also useful to test the effect of\ud environmental and individual animal factors on milk FA composition

ACS Style

Fabio Correddu; Jessica Serdino; Maria Grazia Manca; Gianfranco Cosenza; Alfredo Pauciullo; Luigi Ramunno; Nicolò P.P. Macciotta. Use of multivariate factor analysis to characterize the fatty acid profile of buffalo milk. Journal of Food Composition and Analysis 2017, 60, 25 -31.

AMA Style

Fabio Correddu, Jessica Serdino, Maria Grazia Manca, Gianfranco Cosenza, Alfredo Pauciullo, Luigi Ramunno, Nicolò P.P. Macciotta. Use of multivariate factor analysis to characterize the fatty acid profile of buffalo milk. Journal of Food Composition and Analysis. 2017; 60 ():25-31.

Chicago/Turabian Style

Fabio Correddu; Jessica Serdino; Maria Grazia Manca; Gianfranco Cosenza; Alfredo Pauciullo; Luigi Ramunno; Nicolò P.P. Macciotta. 2017. "Use of multivariate factor analysis to characterize the fatty acid profile of buffalo milk." Journal of Food Composition and Analysis 60, no. : 25-31.

Journal article
Published: 19 May 2017 in Journal of Dairy Research
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The oxytocin receptor, also known as OXTR, is a protein which functions as receptor for the hormone and neurotransmitter oxytocin and the complex oxytocin–oxytocin receptor plays an important role in the uterus during calving. A characterisation of the river buffalo OXTR gene, amino acid sequences and phylogenetic analysis is presented. The DNA regions of the OXTR gene spanning exons 1, 2 and 3 of ten Mediterranean river buffalo DNA samples were analysed and 7 single nucleotide polymorphisms were found. We focused on the g.129C > T SNP detected in exon 3 and responsible for the amino acid replacement CGCArg > TGCCys in position 353. The relative frequency of T allele was of 0·257. An association study between this detected polymorphism and milk fatty acids composition in Italian Mediterranean river buffalo was carried out. The fatty acid composition traits, fatty acid classes and fat percentage of 306 individual milk samples were determined. Associations between OXTR g.129C > T genotype and milk fatty acids composition were tested using a mixed linear model. The OXTR CC genotype was found significantly associated with higher contents of odd branched-chain fatty acids (OBCFA) (P < 0·0006), polyunsaturated FA (PUFA n 3 and n 6) (P < 0·0032 and P < 0·0006, respectively), stearic acid (C18) (P < 0·02) and lower level of palmitic acid (C16) (P < 0·02). The results of this study suggest that the OXTR CC animals might be useful in selection toward the improvement of milk fatty acid composition.

ACS Style

Gianfranco Cosenza; Nicolò P P Macciotta; Anna Nudda; Angelo Coletta; Luigi Ramunno; Alfredo Pauciullo. A novel polymorphism in the oxytocin receptor encoding gene (OXTR) affects milk fatty acid composition in Italian Mediterranean river buffalo. Journal of Dairy Research 2017, 84, 170 -180.

AMA Style

Gianfranco Cosenza, Nicolò P P Macciotta, Anna Nudda, Angelo Coletta, Luigi Ramunno, Alfredo Pauciullo. A novel polymorphism in the oxytocin receptor encoding gene (OXTR) affects milk fatty acid composition in Italian Mediterranean river buffalo. Journal of Dairy Research. 2017; 84 (2):170-180.

Chicago/Turabian Style

Gianfranco Cosenza; Nicolò P P Macciotta; Anna Nudda; Angelo Coletta; Luigi Ramunno; Alfredo Pauciullo. 2017. "A novel polymorphism in the oxytocin receptor encoding gene (OXTR) affects milk fatty acid composition in Italian Mediterranean river buffalo." Journal of Dairy Research 84, no. 2: 170-180.

Journal article
Published: 14 March 2017 in Journal of Dairy Research
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The purpose of the study described in this Research Communication was to report the full characterisation of the goat and sheep oxytocin-neurophysin I gene (OXT), their promoters and amino acid sequences. Using the genomic DNA as template, we sequenced and compared the whole OXT gene (3 exons), plus 958/960 nucleotides at the 5′ flanking region and 478/477 nucleotides at the 3′ flanking region, in 46 sheep and 24 goats belonging to different breeds/genetic types reared in Italy, Greece and Germany. The comparison of the obtained sequences showed a high degree of genetic variability at these loci. In particular, we focused on the SNP g.438T > C as possible example of trans-specific polymorphism. This SNP alters a putative binding site of the transcription factor Oct-1. The set-up of a luciferase assay confirmed that the C variant of this SNP negatively affects the promoter activity of the sheep OXT gene. The results of this study suggest that the SNP g.438T > C might be useful to promote association studies with traits/physiological processes controlled by this hormone.

ACS Style

Gianfranco Cosenza; Marco Iannaccone; Boipuso Alpheus Pico; Daniela Gallo; Rosanna Capparelli; Alfredo Pauciullo. Molecular characterisation, genetic variability and detection of a functional polymorphism influencing the promoter activity of OXT gene in goat and sheep. Journal of Dairy Research 2017, 84, 165 -169.

AMA Style

Gianfranco Cosenza, Marco Iannaccone, Boipuso Alpheus Pico, Daniela Gallo, Rosanna Capparelli, Alfredo Pauciullo. Molecular characterisation, genetic variability and detection of a functional polymorphism influencing the promoter activity of OXT gene in goat and sheep. Journal of Dairy Research. 2017; 84 (2):165-169.

Chicago/Turabian Style

Gianfranco Cosenza; Marco Iannaccone; Boipuso Alpheus Pico; Daniela Gallo; Rosanna Capparelli; Alfredo Pauciullo. 2017. "Molecular characterisation, genetic variability and detection of a functional polymorphism influencing the promoter activity of OXT gene in goat and sheep." Journal of Dairy Research 84, no. 2: 165-169.

Journal article
Published: 01 February 2017 in Journal of Dairy Science
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South American camelids have been poorly genetically investigated and little information is available in llamas (Lama glama) regarding the diversity of the caseins at the protein and gene level. Exon skipping and duplication events previously reported in the αS1-casein gene (CSN1S1) led us to investigate the genetic variability at this locus. Seventy-two positive clones for the αS1-casein transcripts were analyzed and randomly sequenced. The comparative analysis of the sequences revealed 2 transitions, c.366A>G and c.690T>C, at the 10th nucleotide of exon 12 and 94 bp of exon 19, respectively. These SNP are responsible for 2 amino acid changes, Ile→Val in position 86 and Tyr→His in position 194 of the mature protein. Both polymorphisms clarify the genetic events behind the protein variants A and B. This result was confirmed by isoelectric focusing analysis of llama milk samples. Quick methods based on PCR-RFLP and allele-specific PCR were set up for allelic discrimination in a population of 128 animals. Based on genotyping results, 4 haplotypes were observed and the estimated frequencies indicated B as the most common haplotype (0.629) in the investigated population. These data add knowledge to the genetic variability of a species little investigated, and open opportunity for new investigation in the field of milk protein for South American camelids, including the possibility, in the future, to select alleles with favorable characteristics.

ACS Style

A. Pauciullo; M. Gauly; Gianfranco Cosenza; H. Wagner; G. Erhardt. Lama glama αS1-casein: Identification of new polymorphisms in the CSN1S1 gene. Journal of Dairy Science 2017, 100, 1282 -1289.

AMA Style

A. Pauciullo, M. Gauly, Gianfranco Cosenza, H. Wagner, G. Erhardt. Lama glama αS1-casein: Identification of new polymorphisms in the CSN1S1 gene. Journal of Dairy Science. 2017; 100 (2):1282-1289.

Chicago/Turabian Style

A. Pauciullo; M. Gauly; Gianfranco Cosenza; H. Wagner; G. Erhardt. 2017. "Lama glama αS1-casein: Identification of new polymorphisms in the CSN1S1 gene." Journal of Dairy Science 100, no. 2: 1282-1289.

Journal article
Published: 14 October 2016 in Animal Genetics
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ACS Style

Marina Papaianni; Gianfranco Cosenza; Giorgia Borriello; Giorgio Galiero; Fernando Grasso; Bartolomeo DELLA Ventura; Marco Iannaccone; Rosanna Capparelli. The tumor necrosis factor g1022G>A polymorphism is associated with resistance to tuberculosis in water buffalo (Bubalus bubalis). Animal Genetics 2016, 48, 250 -251.

AMA Style

Marina Papaianni, Gianfranco Cosenza, Giorgia Borriello, Giorgio Galiero, Fernando Grasso, Bartolomeo DELLA Ventura, Marco Iannaccone, Rosanna Capparelli. The tumor necrosis factor g1022G>A polymorphism is associated with resistance to tuberculosis in water buffalo (Bubalus bubalis). Animal Genetics. 2016; 48 (2):250-251.

Chicago/Turabian Style

Marina Papaianni; Gianfranco Cosenza; Giorgia Borriello; Giorgio Galiero; Fernando Grasso; Bartolomeo DELLA Ventura; Marco Iannaccone; Rosanna Capparelli. 2016. "The tumor necrosis factor g1022G>A polymorphism is associated with resistance to tuberculosis in water buffalo (Bubalus bubalis)." Animal Genetics 48, no. 2: 250-251.

Journal article
Published: 09 July 2016 in Animal Genetics
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Quantitative individual differences in the amount of β-casein in goat milk are determined by at least nine alleles. In particular, two alleles (CSN20 and CSN201) are associated with an undetectable amount of this protein in milk. The CSN201 allele is characterized by a single nucleotide substitution at position 373 of the seventh exon (AJ011018:g.8915C>T), responsible for the formation of a premature stop codon at the 182 position. Herein, we report the contribution of the SNP g.1311T>C, which demonstrates a linkage with the SNP AJ011018:g.8915C>T, to the promoter transcriptional activity. Particularly, we indicate that the nucleotide C at position 1311 negatively affects the promoter activity of the CSN2 gene.

ACS Style

Gianfranco Cosenza; Marco Iannaccone; B. A. Pico; L. Ramunno; R. Capparelli. The SNP g.1311T>C associated with the absence ofβ-casein in goat milk influencesCSN2promoter activity. Animal Genetics 2016, 47, 615 -617.

AMA Style

Gianfranco Cosenza, Marco Iannaccone, B. A. Pico, L. Ramunno, R. Capparelli. The SNP g.1311T>C associated with the absence ofβ-casein in goat milk influencesCSN2promoter activity. Animal Genetics. 2016; 47 (5):615-617.

Chicago/Turabian Style

Gianfranco Cosenza; Marco Iannaccone; B. A. Pico; L. Ramunno; R. Capparelli. 2016. "The SNP g.1311T>C associated with the absence ofβ-casein in goat milk influencesCSN2promoter activity." Animal Genetics 47, no. 5: 615-617.

Research article
Published: 01 January 2016 in Animal Production Science
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Lactoferrin (LTF) is a multi-functional protein belonging to the whey protein fractions of milk. The gene LTF encoding for such protein is considered a potential candidate for body measurement, milk composition and yield. This study reports on the genetic variability at the LTF locus in the Italian Mediterranean river buffalo and its possible association with milk yield. Eleven polymorphic sites were found in the DNA fragment spanning exons 15–16. In particular, intron 15 was extremely polymorphic with nine single nucleotide polymorphisms (SNPs) detected, whereas the remaining two SNPs were exonic mutations (g.88G > A at exon 15 and g.1351G > A at exon 16) and both synonymous. The genotyping of the informative samples evidenced three haplotypes, whose frequencies were 0.6, 0.3 and 0.1, respectively, whereas the analysis of the exonic SNPs showed a perfect condition of linkage disequilibrium (g.88A/g.1351G and g.88G/g.1351A). The association study carried out by using the SNP g.88G > A showed that buffalo LTF gene has no statistically significant influence on daily milk yield. This study adds knowledge to the genetic variability of a species less investigated than the other ruminant species. These findings may serve as a useful tool for large-scale screening of buffalo populations.

ACS Style

Alfredo Pauciullo; Luigi Ramunno; Nicolò P. P. Macciotta; Giustino Gaspa; Angelo Coletta; Elisa Apicella; Daniela Gallo; Gianfranco Cosenza. Genetic variability detected at the lactoferrin locus (LTF) in the Italian Mediterranean river buffalo. Animal Production Science 2016, 56, 102 -107.

AMA Style

Alfredo Pauciullo, Luigi Ramunno, Nicolò P. P. Macciotta, Giustino Gaspa, Angelo Coletta, Elisa Apicella, Daniela Gallo, Gianfranco Cosenza. Genetic variability detected at the lactoferrin locus (LTF) in the Italian Mediterranean river buffalo. Animal Production Science. 2016; 56 (1):102-107.

Chicago/Turabian Style

Alfredo Pauciullo; Luigi Ramunno; Nicolò P. P. Macciotta; Giustino Gaspa; Angelo Coletta; Elisa Apicella; Daniela Gallo; Gianfranco Cosenza. 2016. "Genetic variability detected at the lactoferrin locus (LTF) in the Italian Mediterranean river buffalo." Animal Production Science 56, no. 1: 102-107.

Research article
Published: 01 January 2015 in Animal Production Science
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The aim of the present study was to investigate the variability at CSN1S1 locus of the Italian Mediterranean river buffalo and to study possible allele effects on milk yield and its composition. Effects of parity, calving season and month of production were also evaluated. Three single-nucleotide polymorphisms were detected. The first mutation, located at position 89 of the 17th exon (c.628C>T), is responsible for the amino acid change p.Ser178 (B allele)/Leu178 (A allele). The other two polymorphisms, detected at the positions 144 (c.882G>A) and 239 (c.977A>G) of 19th exon, respectively, are silent (3ʹ UTR, untranslated region). Associations between the CSN1S1 genotypes and milk production traits were investigated using 4122 test day records of 503 lactations from 175 buffalo cows. Milk yield, fat and protein percentages were analysed using a mixed linear model. A significant association between the c.628C>T SNP and the protein percentage was found. In particular, the CC genotype showed an average value ~0.04% higher than the CT and TT genotypes. The allele substitution effect of cytosine into thymine was –0.014, with a quite low (0.3%) protein percentage contribution to total phenotypic variance. A large dominance effect was detected. Characterisation of the CSN1S1 transcripts and a method based on MboI amplification created restriction site PCR for a rapid genotyping of c.628C>T are provided.

ACS Style

Gianfranco Cosenza; A. Pauciullo; Nicolò Pietro Paolo Macciotta; E. Apicella; Roberto Steri; A. La Battaglia; L. Jemma; A. Coletta; D. Di Berardino; L. Ramunno. Mediterranean river buffalo CSN1S1 gene: search for polymorphisms and association studies. Animal Production Science 2015, 55, 654 -660.

AMA Style

Gianfranco Cosenza, A. Pauciullo, Nicolò Pietro Paolo Macciotta, E. Apicella, Roberto Steri, A. La Battaglia, L. Jemma, A. Coletta, D. Di Berardino, L. Ramunno. Mediterranean river buffalo CSN1S1 gene: search for polymorphisms and association studies. Animal Production Science. 2015; 55 (5):654-660.

Chicago/Turabian Style

Gianfranco Cosenza; A. Pauciullo; Nicolò Pietro Paolo Macciotta; E. Apicella; Roberto Steri; A. La Battaglia; L. Jemma; A. Coletta; D. Di Berardino; L. Ramunno. 2015. "Mediterranean river buffalo CSN1S1 gene: search for polymorphisms and association studies." Animal Production Science 55, no. 5: 654-660.

Research article
Published: 17 October 2014 in PLOS ONE
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The main goal of this study was to develop a comparative multi-colour Zoo-FISH on domestic ruminants metaphases using a combination of whole chromosome and sub-chromosomal painting probes obtained from the river buffalo species (Bubalus bubalis, 2n = 50,XY). A total of 13 DNA probes were obtained through chromosome microdissection and DOP-PCR amplification, labelled with two fluorochromes and sequentially hybridized on river buffalo, cattle (Bos taurus, 2n = 60,XY), sheep (Ovis aries, 2n = 54,XY) and goat (Capra hircus, 2n = 60,XY) metaphases. The same set of paintings were then hybridized on bovine secondary oocytes to test their potential use for aneuploidy detection during in vitro maturation. FISH showed excellent specificity on metaphases and interphase nuclei of all the investigated species. Eight pairs of chromosomes were simultaneously identified in buffalo, whereas the same set of probes covered 13 out 30 chromosome pairs in the bovine and goat karyotypes and 40% of the sheep karyotype (11 out of 27 chromosome pairs). This result allowed development of the first comparative M-FISH karyotype within the domestic ruminants. The molecular resolution of complex karyotypes by FISH is particularly useful for the small chromosomes, whose similarity in the banding patterns makes their identification very difficult. The M-FISH karyotype also represents a practical tool for structural and numerical chromosome abnormalities diagnosis. In this regard, the successful hybridization on bovine secondary oocytes confirmed the potential use of this set of probes for the simultaneous identification on the same germ cell of 12 chromosome aneuploidies. This is a fundamental result for monitoring the reproductive health of the domestic animals in relation to management errors and/or environmental hazards.

ACS Style

Alfredo Pauciullo; Angela Perucatti; Gianfranco Cosenza; Alessandra Iannuzzi; Domenico Incarnato; Viviana Genualdo; Dino Di Berardino; Leopoldo Iannuzzi. Sequential Cross-Species Chromosome Painting among River Buffalo, Cattle, Sheep and Goat: A Useful Tool for Chromosome Abnormalities Diagnosis within the Family Bovidae. PLOS ONE 2014, 9, e110297 -e110297.

AMA Style

Alfredo Pauciullo, Angela Perucatti, Gianfranco Cosenza, Alessandra Iannuzzi, Domenico Incarnato, Viviana Genualdo, Dino Di Berardino, Leopoldo Iannuzzi. Sequential Cross-Species Chromosome Painting among River Buffalo, Cattle, Sheep and Goat: A Useful Tool for Chromosome Abnormalities Diagnosis within the Family Bovidae. PLOS ONE. 2014; 9 (10):e110297-e110297.

Chicago/Turabian Style

Alfredo Pauciullo; Angela Perucatti; Gianfranco Cosenza; Alessandra Iannuzzi; Domenico Incarnato; Viviana Genualdo; Dino Di Berardino; Leopoldo Iannuzzi. 2014. "Sequential Cross-Species Chromosome Painting among River Buffalo, Cattle, Sheep and Goat: A Useful Tool for Chromosome Abnormalities Diagnosis within the Family Bovidae." PLOS ONE 9, no. 10: e110297-e110297.

Journal article
Published: 01 January 2013 in Reproduction, Fertility and Development
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Excess thymidine is capable of synchronizing lymphocyte cultures in vitro by acting with a feed-back mechanism during the S phase of the cell cycle (Harper 2005 Methods Mol. Biol. 296, 157–166). The possibility to synchronize the embryonic growth can be a good strategy for future epigenetic studies. The present study was undertaken to test whether excess thymidine could also synchronize in vitro development of bovine embryos. Abattoir-derived cumulus–oocyte complexes (COC) of the Agerolese breed of cattle were matured in vitro using standard procedures. After maturation, COCs were transferred in drops of 300 µL of IVF-TALP (25/drop) and covered with mineral oil. Frozen sperm from a bull were selected by centrifugation on a Percoll discontinuous gradient (45 to 80%). The pellet was diluted in IVF medium and added to the COC at the concentration of 1 × 106 sperm mL–1. After 18–20 h of gametes co-incubation, presumptive zygotes were denuded and cultured in SOF medium containing different concentrations of thymidine (0, 300, 600, 1200, 2400 µg mL–1, final concentrations). The day after (Day 2) presumptive zygotes were washed four times in fresh SOF, classified morphologically under a stereomicroscope as not divided (n.d.), 2 cells, 3–8 cells, and 9–32 cells and cultured in standard SOF at 39°C in a humidified mixture of 5% CO2,7% O2, and 88% N2. On Day 3, the embryos were again examined for the growth stage in relation to the synchronization effects. On Day 7, the embryos were evaluated for the final growth efficiency (cleavage stage and blastocyst formation). The experiment was replicated 4 times (except the 2400 µg mL–1 condition, which was replicated 2 times because of its clear toxic effect). Data were analyzed by ANOVA test. At Day 2, there were no differences between groups whatever the concentration (n.d.–2 cells: 59.7 ± 11.2, 52.9 ± 26.3, 56.1 ± 14.6, 66.0 ± 2.8, 38.0 ± 11.3; 3–8 cells : 40.3 ± 11.2, 47.1 ± 26.3, 43.9 ± 14.6, 34.0 ± 2.8, 59.9 ± 9.5; respectively for 300, 600, 1200, 2400, and control), while differences at Day 3 and 7 are shown in Table 1. The dosage of 300 µg mL–1 slowed embryo development without altering the developmental rate, whereas the other dosages were somewhat toxic to the zygotes, affecting the final percentage of blastocysts. Table 1.State of development of zygotes on Day 3 and Day 7 (cleavage and embryo rate)

ACS Style

M. Rubessa; A. Iannuzzi; V. Peretti; A. Pauciullo; Gianfranco Cosenza; L. Ramunno; J. Rubes; D. Di Berardino. 127 THYMIDINE SYNCHRONIZATION OF IN VITRO DEVELOPMENT OF BOVINE EMBRYOS. Reproduction, Fertility and Development 2013, 25, 210 -211.

AMA Style

M. Rubessa, A. Iannuzzi, V. Peretti, A. Pauciullo, Gianfranco Cosenza, L. Ramunno, J. Rubes, D. Di Berardino. 127 THYMIDINE SYNCHRONIZATION OF IN VITRO DEVELOPMENT OF BOVINE EMBRYOS. Reproduction, Fertility and Development. 2013; 25 (1):210-211.

Chicago/Turabian Style

M. Rubessa; A. Iannuzzi; V. Peretti; A. Pauciullo; Gianfranco Cosenza; L. Ramunno; J. Rubes; D. Di Berardino. 2013. "127 THYMIDINE SYNCHRONIZATION OF IN VITRO DEVELOPMENT OF BOVINE EMBRYOS." Reproduction, Fertility and Development 25, no. 1: 210-211.

Journal article
Published: 01 January 2013 in Gene
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κ-casein is a glycosilated protein belonging to a family of phosphoproteins (αs1, β, αs2, κ) that represent themajor protein component inmammalianmilk. κ-casein plays an essential role in the caseinmicelle stabilization, determining the size and the specific function. In the present paper, we report for the first time the characterization of the nucleotide sequence of the whole κ-casein-encoding gene (CSN3) plus 1045 nucleotides at the 5′ flanking region in Camelus dromedarius. The promoter region and the complete cDNA were also provided for the first time in Camelus bactrianus. The gene is spread over 9.3 kb and consists of 5 exons varying in length from 33 bp (exon 3) to 494 bp (exon 4), and 4 introns from 1200 bp (intron 3) to 2928 bp (intron 2). Highly conserved sequences, located in the 5′ flanking region, have been found. The regulatory regions of camels seems to be more related to equids than to other compared species. 17 polymorphic sites have been detected, one of these (g.1029T>C) is responsible for the creation of a new putative consensus sequence for the transcription factor HNF-1. In general, these SNPs are the first reported in camels for casein loci. Finally, seven interspersed repeated elements were also identified at intronic level

ACS Style

A. Pauciullo; E.S. Shuiep; Gianfranco Cosenza; L. Ramunno; G. Erhardt. Molecular characterization and genetic variability at κ-casein gene (CSN3) in camels. Gene 2013, 513, 22 -30.

AMA Style

A. Pauciullo, E.S. Shuiep, Gianfranco Cosenza, L. Ramunno, G. Erhardt. Molecular characterization and genetic variability at κ-casein gene (CSN3) in camels. Gene. 2013; 513 (1):22-30.

Chicago/Turabian Style

A. Pauciullo; E.S. Shuiep; Gianfranco Cosenza; L. Ramunno; G. Erhardt. 2013. "Molecular characterization and genetic variability at κ-casein gene (CSN3) in camels." Gene 513, no. 1: 22-30.

Journal article
Published: 20 September 2012 in Journal of Dairy Research
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An association study between the milk yield trait and the stearoyl-CoA desaturase (SCD) polymorphism (g.133A > C) in Italian Mediterranean river buffalo was carried out. A full characterization of the river buffalo SCD promoter region was presented. Genotyping information was provided and a quick method for allelic discrimination was developed. The frequency of the C allele was 0·16. Test-day (TD) records (43 510) of milk production belonging to 226 lactations of 169 buffalo cows were analysed with a mixed linear model in order to estimate the effect of g.133A > C genotype, as well as the effect of parity and calving season. The SCD genotype was significantly associated with milk yield (P = 0·02). The genotype AC showed an over-dominance effect with an average daily milk yield approximately 2 kg/d higher than CC buffaloes. Such a difference represents about 28% more milk/d. The effect of the genotype was constant across lactation stages. The contribution of SCD genotype (r2SCD) to the total phenotypic variance in milk yield was equal to 0·12. This report is among the first indications of genetic association between a trait of economic importance in river buffalo. Although such results need to be confirmed with large-scale studies in the same and other buffalo populations, they might offer useful indications for the application of MAS programmes in river buffalo and in the future they might be of great economic interest for the river buffalo dairy industry.

ACS Style

Alfredo Pauciullo; Gianfranco Cosenza; Roberto Steri; Angelo Coletta; Antonio La Battaglia; Dino Di Berardino; Nicolò Pietro Paolo Macciotta; Luigi Ramunno. A single nucleotide polymorphism in the promoter region of river buffalo stearoyl CoA desaturase gene (SCD) is associated with milk yield. Journal of Dairy Research 2012, 79, 429 -435.

AMA Style

Alfredo Pauciullo, Gianfranco Cosenza, Roberto Steri, Angelo Coletta, Antonio La Battaglia, Dino Di Berardino, Nicolò Pietro Paolo Macciotta, Luigi Ramunno. A single nucleotide polymorphism in the promoter region of river buffalo stearoyl CoA desaturase gene (SCD) is associated with milk yield. Journal of Dairy Research. 2012; 79 (4):429-435.

Chicago/Turabian Style

Alfredo Pauciullo; Gianfranco Cosenza; Roberto Steri; Angelo Coletta; Antonio La Battaglia; Dino Di Berardino; Nicolò Pietro Paolo Macciotta; Luigi Ramunno. 2012. "A single nucleotide polymorphism in the promoter region of river buffalo stearoyl CoA desaturase gene (SCD) is associated with milk yield." Journal of Dairy Research 79, no. 4: 429-435.

Comparative study
Published: 01 August 2012 in Theriogenology
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The present study reports on the frequency of X-Y aneuploidy in the sperm population of two minor cattle breeds reared in Italy, namely Modicana and Agerolese, which are listed in the "Anagraphic Register of autochthonous cattle populations with limited distribution". More than 50 000 sperm nuclei from 11 subjects (5 and 6, respectively for each breed) have been analyzed by the fluorescent in situ hybridization with the Xcen and Y-chromosome specific painting probes. The fraction of X- and Y-bearing sperm was close to the 1:1 ratio in the Modicana breed, whereas in the Agerolese the Y-fraction was significantly higher (P < 0.002) compared to the X-counterpart. The mean rates of X-Y aneuploidy were 0.510 and 0.466%, respectively, in the two breeds; no significant differences were found among individual bulls within each breed. Average frequencies of disomic and diploid sperm were 0.425 and 0.085% in the former and 0.380 and 0.086% in the latter. In both breeds, (a) disomy was significantly more frequent than diploidy (P < 0.01), (b) YY disomy was significantly (P < 0.001) more frequent than XY or XX; (c) MI errors (XY disomy) were significantly (P < 0.01) less represented than MII (XX + YY disomy). Compared to the dairy (Italian Friesian and Brown) and meat (Podolian and Maremmana) breeds previously analyzed, the "minor" breeds investigated in the present study showed a significantly (P < 0.002) higher rate of X-Y aneuploidy (0.486 vs. 0.159 and 0.190%, respectively). Considering all the breeds analyzed -so far- and assuming no significant interchromosomal effect, the baseline level of aneuploidy in the sperm population of the species Bos taurus was estimated as 5.19%. Establishing the baseline level of aneuploidy in the sperm population of the various livestock species/breeds engaged in animal production could reveal useful for monitoring future trends of their reproductive health, especially in relation to management errors and/or environmental hazard

ACS Style

Alfredo Pauciullo; D. Nicodemo; V. Peretti; Gabriele Marino; Leopoldo Iannuzzi; Gianfranco Cosenza; G.P. Di Meo; L. Ramunno; J. Rubes; D. Di Berardino. X-Y aneuploidy rate in sperm of two “minor” breeds of cattle (Bos taurus) by using dual color fluorescent in situ hybridization (FISH). Theriogenology 2012, 78, 688 -695.

AMA Style

Alfredo Pauciullo, D. Nicodemo, V. Peretti, Gabriele Marino, Leopoldo Iannuzzi, Gianfranco Cosenza, G.P. Di Meo, L. Ramunno, J. Rubes, D. Di Berardino. X-Y aneuploidy rate in sperm of two “minor” breeds of cattle (Bos taurus) by using dual color fluorescent in situ hybridization (FISH). Theriogenology. 2012; 78 (3):688-695.

Chicago/Turabian Style

Alfredo Pauciullo; D. Nicodemo; V. Peretti; Gabriele Marino; Leopoldo Iannuzzi; Gianfranco Cosenza; G.P. Di Meo; L. Ramunno; J. Rubes; D. Di Berardino. 2012. "X-Y aneuploidy rate in sperm of two “minor” breeds of cattle (Bos taurus) by using dual color fluorescent in situ hybridization (FISH)." Theriogenology 78, no. 3: 688-695.

Journal article
Published: 01 February 2012 in Theriogenology
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In vitro-matured metaphase II (MII) oocytes with corresponding first polar bodies (I pb) from two indigenous cattle (Bos taurus) breeds have been investigated to provide specific data upon the incidence of aneuploidy. A total of 165 and 140 in vitro-matured MII oocytes of the Podolian (PO) and Maremmana (MA) breeds, respectively, were analyzed by fluorescence in situ hybridization using Xcen and five chromosome-specific painting probes. Oocytes with unreduced chromosome number were 13.3% and 6.4% in the two breeds, respectively, averaging 10.2%. In the PO, out of 100 MII oocytes I pb analyzed, two oocytes were nullisomic for chromosome 5 (2.0%) and one disomic for the same chromosome (1.0%). In the MA, out of 100 MII oocytes I pb, one oocyte was found nullisomic for chromosome 5 (1.0%) and one was disomic for the X chromosome (1.0%). Out of 200 MII oocytes I pb, the mean rate of aneuploidy (nullisomy disomy) for the two chromosomes scored was 2.5%, of which 1.5% was due to nullisomy and 1.0% due to disomy. By averaging these data with those previously reported on dairy cattle, the overall incidence of aneuploidy in cattle, as a species, was 2.25%, of which 1.25% was due to nullisomy and 1.0% due to disomy. The results so far achieved indicate similar rates of aneuploidy among the four cattle breeds investigated. Interspecific comparison between cattle (Xcen-5 probes) and pig (Sus scrofa domestica) (1–10 probes) also reveal similar rates. Further studies are needed that use more probes to investigate the interchromosomal effect. Establishing a baseline level of aneuploidy for each species/breed could also be useful for improving the in vitro production of embryos destined to the embryo transfer industry as well as for monitoring future trends of the reproductive health of domestic animals in relation to management errors and/or environmental hazards

ACS Style

Alfredo Pauciullo; D. Nicodemo; Gianfranco Cosenza; V. Peretti; Leopoldo Iannuzzi; G.P. Di Meo; L. Ramunno; J. Rubes; D. Di Berardino. Similar rates of chromosomal aberrant secondary oocytes in two indigenous cattle (Bos taurus) breeds as determined by dual-color FISH. Theriogenology 2012, 77, 675 -683.

AMA Style

Alfredo Pauciullo, D. Nicodemo, Gianfranco Cosenza, V. Peretti, Leopoldo Iannuzzi, G.P. Di Meo, L. Ramunno, J. Rubes, D. Di Berardino. Similar rates of chromosomal aberrant secondary oocytes in two indigenous cattle (Bos taurus) breeds as determined by dual-color FISH. Theriogenology. 2012; 77 (3):675-683.

Chicago/Turabian Style

Alfredo Pauciullo; D. Nicodemo; Gianfranco Cosenza; V. Peretti; Leopoldo Iannuzzi; G.P. Di Meo; L. Ramunno; J. Rubes; D. Di Berardino. 2012. "Similar rates of chromosomal aberrant secondary oocytes in two indigenous cattle (Bos taurus) breeds as determined by dual-color FISH." Theriogenology 77, no. 3: 675-683.