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The αs2-casein is one of the phosphoproteins secreted in all ruminants' milk, and it is the most hydrophilic of all caseins. However, this important gene (CSN1S2) has not been characterized in detail in buffaloes with only two alleles detected (reported as alleles A and B), and no association studies with milk traits have been carried out unlike what has been achieved for other species of ruminants. In this study, we sequenced the whole gene of two Mediterranean river buffalo homozygotes for the presence/absence of the nucleotide C (g.7539G>C) realized at the donor splice site of exon 7 and, therefore, responsible for the skipping of the same exon at mRNA level (allele B). A high genetic variability was found all over the two sequenced CSN1S2 alleles. In particular, 74 polymorphic sites were found in introns, six in the promoter, and three SNPs in the coding region (g.11072C>T, g.12803A>T, and g.14067A>G) with two of them responsible for amino acid replacements. Considering this genetic diversity, those found in the database and the SNP at the donor splice site of exon 7, it is possible to deduce at least eight different alleles (CSN1S2 A, B, B1, B2, C, D, E, and F) responsible for seven different possible translations of the buffalo αs2-casein. Haplotype data analysis suggests an evolutionary pathway of buffalo CSN1S2 gene consistent with our proposal that the published allele CSN1S2 A is the ancestral αs2-CN form, and the B2 probably arises from interallelic recombination (single crossing) between the alleles D and B (or B1). The allele CSN1S2 C is of new identification, while CSN1S2 B, B1, and B2 are deleted alleles because all are characterized by the mutation g.7539G>C. Two SNPs (g.7539G>C and g.14067A>G) were genotyped in 747 Italian buffaloes, and major alleles had a relative frequency of 0.83 and 0.51, respectively. An association study between these SNPs and milk traits including fatty acid composition was carried out. The SNP g.14067A>G showed a significant association (P < 0.05) on the content of palmitic acid in buffalo milk, thus suggesting its use in marker-assisted selection programs aiming for the improvement of buffalo milk fatty acid composition.
Gianfranco Cosenza; Daniela Gallo; Barbara Auzino; Giustino Gaspa; Alfredo Pauciullo. Complete CSN1S2 Characterization, Novel Allele Identification and Association With Milk Fatty Acid Composition in River Buffalo. Frontiers in Genetics 2021, 11, 1 .
AMA StyleGianfranco Cosenza, Daniela Gallo, Barbara Auzino, Giustino Gaspa, Alfredo Pauciullo. Complete CSN1S2 Characterization, Novel Allele Identification and Association With Milk Fatty Acid Composition in River Buffalo. Frontiers in Genetics. 2021; 11 ():1.
Chicago/Turabian StyleGianfranco Cosenza; Daniela Gallo; Barbara Auzino; Giustino Gaspa; Alfredo Pauciullo. 2021. "Complete CSN1S2 Characterization, Novel Allele Identification and Association With Milk Fatty Acid Composition in River Buffalo." Frontiers in Genetics 11, no. : 1.
Arthrogryposis and macroglossia are congenital pathologies known in several cattle breeds, including Piemontese. As variations in single genes were identified as responsible for arthrogryposis in some breeds, we decided: (i) to test the hypothesis of a similar genetic determinism for arthrogryposis in the Piemontese breed by genotyping affected and healthy animals with a high-density chip and applying genome-wide association study (GWAS), FST and canonical discriminant analysis (CDA) procedures, and (ii) to investigate with the same approach the genetic background of macroglossia, for which no genetic studies exist so far. The study included 125 animals (63 healthy, 30 with arthrogryposis, and 32 with macroglossia). Differently from what reported for other breeds, the analysis did not evidence a single strong association with the two pathologies. Rather, 23 significant markers on different chromosomes were found (7 associated to arthrogryposis, 11 to macroglossia, and 5 to both pathologies), suggesting a multifactorial genetic mechanism underlying both diseases in the Piemontese breed. In the 100-kb interval surrounding the significant SNPs, 20 and 26 genes were identified for arthrogryposis and macroglossia, respectively, with 12 genes in common to both diseases. For some genes (NTN3, KCNH1, KCNH2, and KANK3), a possible role in the pathologies can be hypothesized, being involved in processes related to muscular or nervous tissue development. The real involvement of these genes needs to be further investigated and validated.
Liliana Di Stasio; Andrea Albera; Alfredo Pauciullo; Alberto Cesarani; Nicolò P. P. Macciotta; Giustino Gaspa. Genetics of Arthrogryposis and Macroglossia in Piemontese Cattle Breed. Animals 2020, 10, 1732 .
AMA StyleLiliana Di Stasio, Andrea Albera, Alfredo Pauciullo, Alberto Cesarani, Nicolò P. P. Macciotta, Giustino Gaspa. Genetics of Arthrogryposis and Macroglossia in Piemontese Cattle Breed. Animals. 2020; 10 (10):1732.
Chicago/Turabian StyleLiliana Di Stasio; Andrea Albera; Alfredo Pauciullo; Alberto Cesarani; Nicolò P. P. Macciotta; Giustino Gaspa. 2020. "Genetics of Arthrogryposis and Macroglossia in Piemontese Cattle Breed." Animals 10, no. 10: 1732.
The study of Runs of Homozygosity (ROH) is a useful approach for the characterization of the genome of livestock populations. Due to their high relationship with autozygosity, ROH allow to make inference about population genetic history, to estimate the level of inbreeding, to assess within breed heterogeneity and to detect the footprints of selection on livestock genomes. Aim of this study was to investigate the distribution of runs of homozygosity in bulls belonging to five European Simmental populations and to assess the relationship between three production traits (milk yield, fat and protein contents) and autozygosity. ROH count, distribution and ROH‐based coefficient of inbreeding (FROH) were calculated for 3,845 Simmental bulls of five different European countries: Austria (AT), Switzerland (CH), Czech Republic (CZ), Germany (DE) and Italy (IT). Average values of ROH number per animal, and total genome length covered by ROH were 77.8 ± 20.7 and 205 ± 74.4 Mb, respectively. Bulls from AT, DE and IT exhibited similar ROH characteristics. Swiss animals showed the highest (12.6%), while CZ the lowest (4.6%) FROH coefficient. The relationship between ROH occurrence and milk production traits was investigated through a genome‐wide ROH‐traits association analysis (GWRA). A total of 34 regions previously associated with milk traits (yield and/or composition) were identified by GWRA. Results of the present research highlight a mixed genetic background in the 5 European Simmental populations, with the possible presence of three subgroups. Moreover, a strong relationship between autozygosity and production traits has been detected.
Alberto Cesarani; Giustino Gaspa; Alfredo Pauciullo; Lorenzo Degano; Daniele Vicario; Nicolò P. P. Macciotta. Genome‐wide analysis of homozygosity regions in european simmental bulls. Journal of Animal Breeding and Genetics 2020, 138, 69 -79.
AMA StyleAlberto Cesarani, Giustino Gaspa, Alfredo Pauciullo, Lorenzo Degano, Daniele Vicario, Nicolò P. P. Macciotta. Genome‐wide analysis of homozygosity regions in european simmental bulls. Journal of Animal Breeding and Genetics. 2020; 138 (1):69-79.
Chicago/Turabian StyleAlberto Cesarani; Giustino Gaspa; Alfredo Pauciullo; Lorenzo Degano; Daniele Vicario; Nicolò P. P. Macciotta. 2020. "Genome‐wide analysis of homozygosity regions in european simmental bulls." Journal of Animal Breeding and Genetics 138, no. 1: 69-79.
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.
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 StyleM. 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 StyleM. 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.
Chromosomal aberrations are relatively frequent pathologies in both humans and animals. Among them, translocations present a specific meiotic segregation pattern able to give a higher percentage of unbalanced gametes that can induce fertility problems. In this study, the meiotic segregation patterns of 1p, 1q and 18 Bubalus bubalis chromosomes were analyzed in both total sperm fraction and motile sperm fraction of a t(1p;18) carrier and a control bulls by triple-color FISH analysis with a pool of specific BAC probes. The frequencies of each total sperm fraction products in the carrier resulting from alternate, adjacent I, adjacent II and 3:1 segregation were 39%, 20%, 1% and 38%, respectively. On the other hand, the frequencies of each motile sperm fraction products in the carrier resulting from alternate, adjacent I, adjacent II and 3:1 segregation were 93%, 5%, 0% and 2%, respectively. The frequencies of normal sperms in the carrier were 27% and 69% in total sperm fraction and motile sperm fraction, respectively. The frequencies detected in motile sperm fraction were also validated by comparison with bull’s progeny. To our knowledge, this is the first report on the meiotic segregation patterns in motile sperm fractions of B. bubalis bull carrying a chromosomal translocation. These data suggest that translocation has a very limited effect on aneuploidy in the gametes, and therefore, on the reproductive abilities of the bull.
Chiara Di Dio; Valentina Longobardi; Gianluigi Zullo; Pietro Parma; Alfredo Pauciullo; Angela Perucatti; James Higgins; Alessandra Iannuzzi. Analysis of meiotic segregation by triple-color fish on both total and motile sperm fractions in a t(1p;18) river buffalo bull. PLOS ONE 2020, 15, e0232592 .
AMA StyleChiara Di Dio, Valentina Longobardi, Gianluigi Zullo, Pietro Parma, Alfredo Pauciullo, Angela Perucatti, James Higgins, Alessandra Iannuzzi. Analysis of meiotic segregation by triple-color fish on both total and motile sperm fractions in a t(1p;18) river buffalo bull. PLOS ONE. 2020; 15 (5):e0232592.
Chicago/Turabian StyleChiara Di Dio; Valentina Longobardi; Gianluigi Zullo; Pietro Parma; Alfredo Pauciullo; Angela Perucatti; James Higgins; Alessandra Iannuzzi. 2020. "Analysis of meiotic segregation by triple-color fish on both total and motile sperm fractions in a t(1p;18) river buffalo bull." PLOS ONE 15, no. 5: e0232592.
In the past two decades, several cytogenetic screening programmes identified different chromosome rearrangements in pig, most of which represented by reciprocal translocation (rcp). This chromosome abnormality does not involve the variation in the number of chromosomes, but only the rearrangement of genetic material, resulting in phenotypically normal carriers with fertility problems. During an occasional cytogenetic screening, a new reciprocal translocation was detected in the black Lucano pig native breed. We analysed 15 animals reared by a family-run piggery in Basilicata region (Southern Italy). After karyotyping, four pigs (two boars and two sows) revealed two unpaired chromosomes. Analysis of the RBA karyotype and the dual-colour FISH technique confirmed that these pigs showed the same reciprocal translocation involving the chromosomes SSC3 and SSC6. The precise location of breakpoints was identified by RBH-FISH t(3;6)(p14;q26), whereas the analysis of the pedigree showed a case of Mendelian inheritance within a family, after the de novo occurrence of the new rcp. Considering the consequences of the rcp on the fertility, this study points out the importance of the cytogenetic screening in the native breeds for the safeguard of the genetic biodiversity and the sustainability of the rural areas.
Viviana Genualdo; Cristina Rossetti; Alfredo Pauciullo; Petra Musilova; Domenico Incarnato; Angela Perucatti; Musilova Petra. A de novo reciprocal chromosomal translocation t(3;6)(p14;q26) in the black Lucano pig. Reproduction in Domestic Animals 2020, 55, 677 -682.
AMA StyleViviana Genualdo, Cristina Rossetti, Alfredo Pauciullo, Petra Musilova, Domenico Incarnato, Angela Perucatti, Musilova Petra. A de novo reciprocal chromosomal translocation t(3;6)(p14;q26) in the black Lucano pig. Reproduction in Domestic Animals. 2020; 55 (6):677-682.
Chicago/Turabian StyleViviana Genualdo; Cristina Rossetti; Alfredo Pauciullo; Petra Musilova; Domenico Incarnato; Angela Perucatti; Musilova Petra. 2020. "A de novo reciprocal chromosomal translocation t(3;6)(p14;q26) in the black Lucano pig." Reproduction in Domestic Animals 55, no. 6: 677-682.
The structure of casein genes has been fully understood in llamas, whereas in other camelids, this information is still incomplete. In fact, structure and polymorphisms have been identified in three (CSN1S1, αs1-CN; CSN2, β-CN; CSN3, κ-CN) out of four casein genes, whereas controversial information is available for the CSN1S2 (αs2-CN) in terms of structure and genetic diversity. Data from the genome analysis, whose assembly is available for feral camel, Bactrian, dromedary, and alpaca, can contribute to a better knowledge. However, a majority of the scaffolds available in GenBank are still unplaced, and the comparative annotation is often inaccurate or lacking.Therefore, the aims of this study are 1) to perform a comparative genome analysis and synthesize the literature data on camelids casein cluster; 2) to analyze the casein variability in two dromedary populations (Sudanese and Nigerian) using polymorphisms at CSN1S1 (c.150G > T), CSN2 (g.2126A > G), and CSN3 (g.1029T > C); and 3) to physically map the casein cluster in alpaca. Exon structures, gene and intergenic distances, large insertion/deletion events, SNPs, and microsatellites were annotated. In all camelids, the CSN1S2 consists of 17 exons, confirming the structure of llama CSN1S2 gene. The comparative analysis of the complete casein cluster (∼190kb) shows 12,818 polymorphisms. The most polymorphic gene is the CSN1S1 (99 SNPs in Bactrian vs. 248 in dromedary vs. 626 in alpaca). The less polymorphic is the CSN3 in the Bactrian (22 SNPs) and alpaca (301 SNPs), whereas it is the CSN1S2 in dromedary (79 SNPs). In the two investigated dromedary populations, the allele frequencies for the three markers are slightly different: the allele C at CSN1S1 is very rare in Nigerian (0.054) and Sudanese dromedaries (0.094), whereas the frequency of the allele G at CSN2 is almost inverted. Haplotype analysis evidenced GAC as the most frequent (0.288) and TGC as the rarest (0.005). The analysis of R-banding metaphases hybridized with specific probes mapped the casein genes on chromosome 2q21 in alpaca. These data deepen the information on the structure of the casein cluster in camelids and add knowledge on the cytogenetic map and haplotype variability.
Alfredo Pauciullo; El Tahir Shuiep; Moses Danlami Ogah; Gianfranco Cosenza; Liliana Di Stasio; Georg Erhardt. Casein Gene Cluster in Camelids: Comparative Genome Analysis and New Findings on Haplotype Variability and Physical Mapping. Frontiers in Genetics 2019, 10, 748 .
AMA StyleAlfredo Pauciullo, El Tahir Shuiep, Moses Danlami Ogah, Gianfranco Cosenza, Liliana Di Stasio, Georg Erhardt. Casein Gene Cluster in Camelids: Comparative Genome Analysis and New Findings on Haplotype Variability and Physical Mapping. Frontiers in Genetics. 2019; 10 ():748.
Chicago/Turabian StyleAlfredo Pauciullo; El Tahir Shuiep; Moses Danlami Ogah; Gianfranco Cosenza; Liliana Di Stasio; Georg Erhardt. 2019. "Casein Gene Cluster in Camelids: Comparative Genome Analysis and New Findings on Haplotype Variability and Physical Mapping." Frontiers in Genetics 10, no. : 748.
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.
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 StyleGianfranco 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 StyleGianfranco 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.
Using the Piemontese breed as a case study, we characterised beef production systems within the EU classification, and investigated their effects on carcass and meat quality traits. The research involved 1,327 young bulls fattened on 115 farms. The production systems identified by hierarchical cluster analysis were: traditional (restricted feeding and either tie-stalls or loose-housing), modern breeders and fatteners and specialised fatteners (the last two were divided in those using or not using total mixed rations). Despite the large variability in management techniques within production systems, production systems affected (P < 0.05) farm size, animal density, environmental scoring, diet, slaughter age and all carcass traits except weight. Lightness (L*) of Longissimus thoracis was the only meat quality trait affected (P < 0.05), with values greater in the traditional tie-stall system (+0.9 L*). Given the very limited effect of production systems on meat quality traits, factors related to individual animals within farms, such as genetics, should be considered for their improvement.
Simone Savoia; Alberto Brugiapaglia; Alfredo Pauciullo; Liliana Di Stasio; Stefano Schiavon; Giovanni Bittante; Andrea Albera. Characterisation of beef production systems and their effects on carcass and meat quality traits of Piemontese young bulls. Meat Science 2019, 153, 75 -85.
AMA StyleSimone Savoia, Alberto Brugiapaglia, Alfredo Pauciullo, Liliana Di Stasio, Stefano Schiavon, Giovanni Bittante, Andrea Albera. Characterisation of beef production systems and their effects on carcass and meat quality traits of Piemontese young bulls. Meat Science. 2019; 153 ():75-85.
Chicago/Turabian StyleSimone Savoia; Alberto Brugiapaglia; Alfredo Pauciullo; Liliana Di Stasio; Stefano Schiavon; Giovanni Bittante; Andrea Albera. 2019. "Characterisation of beef production systems and their effects on carcass and meat quality traits of Piemontese young bulls." Meat Science 153, no. : 75-85.
The stearoyl-CoA desaturase (SCD) gene has been investigated in depth in ruminants because of its effect on milk fat composition. In river buffalo, the single nucleotide polymorphism (SNP) g.133A>C in the gene promoter has been associated with milk quality and yield. However, the biological reason for such effects remains unexplored. In this study, we combined mRNA profile analysis, an electromobility shift assay, and quantitative PCR to elucidate the role of this SNP on gene transcription and its effects on milk fat traits. A preliminary genotyping of g.133A>C was carried out on a group of 303 river buffaloes to choose individuals for the downstream applications. Analysis of allele frequencies showed an increase in the minor allele C (0.25) compared with previous findings (0.16). Six animals (2 for each genotype) were chosen for cloning and 216 positive cDNA recombinant clones for SCD (72 per genotype) were analyzed by PCR. All clones showed the same length on agarose gel; therefore, random clones were chosen for sequencing. No qualitative differences were found and all gene transcripts assembled correctly. An electrophoretic mobility shift assay was performed to evaluate the binding of the transcription factor Sp1 to DNA sequences including g.133A>C. Genotype CC showed a higher binding affinity (mean ± standard error of the mean) than genotype AA in 2 different conditions [Enzo buffer (EB), Enzo Life Science Inc., Farmingdale, NY: 201.77 ± 4.06 vs. 141.65 ± 3.77 band intensity values and Poletto buffer (PB): 95.90 ± 1.15 vs. 67.30 ± 2.14 band intensity values]. The subsequent quantitative PCR confirmed the upregulation of the CC genotype compared with the AA and AC genotypes. The association study with milk fat traits revealed a favorable effect of allele C. The heterozygous genotype had the highest values for monounsaturated fatty acids, oleic acid (C18:1 cis-9), polyunsaturated fatty acids, and odd- and branched-chain fatty acids, and the lowest values for saturated fatty acids and atherogenic and thrombogenic indices; the heterozygous genotype differed significantly from the AA genotype. The AC genotype has previously been associated with higher milk yield. Therefore, the g.133A>C SNP is a marker with dual effects and is an interesting candidate for assisted selection programs in river buffalo. These data clarified the biological role of the SNP g.133A>C in the SCD promoter and how it affects gene function, providing important knowledge on the genetic background of lipid metabolism, including the future possibility of selecting alleles with quantitatively or qualitatively favorable effects.
M. Gu; G. Cosenza; M. Iannaccone; N.P.P. Macciotta; Y. Guo; L. Di Stasio; A. Pauciullo. The single nucleotide polymorphism g.133A>C in the stearoyl CoA desaturase gene (SCD) promoter affects gene expression and quali-quantitative properties of river buffalo milk. Journal of Dairy Science 2019, 102, 442 -451.
AMA StyleM. Gu, G. Cosenza, M. Iannaccone, N.P.P. Macciotta, Y. Guo, L. Di Stasio, A. Pauciullo. The single nucleotide polymorphism g.133A>C in the stearoyl CoA desaturase gene (SCD) promoter affects gene expression and quali-quantitative properties of river buffalo milk. Journal of Dairy Science. 2019; 102 (1):442-451.
Chicago/Turabian StyleM. Gu; G. Cosenza; M. Iannaccone; N.P.P. Macciotta; Y. Guo; L. Di Stasio; A. Pauciullo. 2019. "The single nucleotide polymorphism g.133A>C in the stearoyl CoA desaturase gene (SCD) promoter affects gene expression and quali-quantitative properties of river buffalo milk." Journal of Dairy Science 102, no. 1: 442-451.
Oxytocin is a neurohypophysial peptide linked to a wide range of biological functions, including milk ejection, temperament and reproduction. Aims of the present study were a) the characterization of the OXT (Oxytocin-neurophysin I) gene and its regulatory regions in Old and New world camelids; b) the investigation of the genetic diversity and the discovery of markers potentially affecting the gene regulation. On average, the gene extends over 814 bp, ranging between 825 bp in dromedary, 811 bp in Bactrian and 810 bp in llama and alpaca. Such difference in size is due to a duplication event of 21 bp in dromedary. The main regulatory elements, including the composite hormone response elements (CHREs), were identified in the promoter, whereas the presence of mature microRNAs binding sequences in the 3’UTR improves the knowledge on the factors putatively involved in the OXT gene regulation, although their specific biological effect needs to be still elucidated. The sequencing of genomic DNA allowed the identification of 17 intraspecific polymorphisms and 69 nucleotide differences among the four species. One of these (MF464535:g.622C>G) is responsible, in alpaca, for the loss of a consensus sequence for the transcription factor SP1. Furthermore, the same SNP falls within a CpG island and it creates a new methylation site, thus opening future possibilities of investigation to verify the influence of the novel allelic variant in the OXT gene regulation. A PCR-RFLP method was setup for the genotyping and the frequency of the allele C was 0.93 in a population of 71 alpacas. The obtained data clarify the structure of OXT gene in domestic camelids and add knowledge to the genetic variability of a genomic region, which has received little investigation so far. These findings open the opportunity for new investigations, including association studies with productive and reproductive traits.
Alfredo Pauciullo; Danlami Moses Ogah; Marco Iannaccone; Georg Erhardt; Liliana Di Stasio; Gianfranco Cosenza. Genetic characterization of the oxytocin-neurophysin I gene (OXT) and its regulatory regions analysis in domestic Old and New World camelids. PLOS ONE 2018, 13, e0195407 .
AMA StyleAlfredo Pauciullo, Danlami Moses Ogah, Marco Iannaccone, Georg Erhardt, Liliana Di Stasio, Gianfranco Cosenza. Genetic characterization of the oxytocin-neurophysin I gene (OXT) and its regulatory regions analysis in domestic Old and New World camelids. PLOS ONE. 2018; 13 (4):e0195407.
Chicago/Turabian StyleAlfredo Pauciullo; Danlami Moses Ogah; Marco Iannaccone; Georg Erhardt; Liliana Di Stasio; Gianfranco Cosenza. 2018. "Genetic characterization of the oxytocin-neurophysin I gene (OXT) and its regulatory regions analysis in domestic Old and New World camelids." PLOS ONE 13, no. 4: e0195407.
Phenylpropanoid glycosides (PPG), like other phenolic compounds, are a powerful antioxidants and the Verbascoside (VB) is one of the most active of them. A previous study, by using in vitro exposure of blood human lymphocytes to Verbascoside, reported a significant increasings of chromosome fragility compared to control. In the present study, four homogeneous groups of rabbits were used to test in vivo the VB and/or Lycopene (LP) by feeding the animals without VB and LP (control), in presence of VB or/and LP for 80 days. Lymphocyte cell cultures were performed in three different times: 0, 40 and 80 days of the experiment and the cytogenetic tests that we used [CA-test (Chromosome Abnormalities in terms of chromosome and chromatid breaks) and Sister Chromatid Exchange (SCE-test)] have revealed no mutagenic effects on chromosomes. Indeed, mean values/cell of CA and SCE decreased during the experiment with some difference among and within groups, with significant decreasing value only for some group. The study shows clear evidence that diets rich in Verbascoside (and/or Lycopene) do not originate any mutagenic activity, resulting no cytotoxic for the animals and, suggesting a possible their use in both animal and human diets.
Angela Perucatti; Viviana Genualdo; Alfredo Pauciullo; Ciro Iorio; Domenico Incarnato; Cristina Rossetti; Francesco Vizzarri; Marisa Palazzo; Donato Casamassima; Leopoldo Iannuzzi; Alessandra Iannuzzi. Cytogenetic tests reveal no toxicity in lymphocytes of rabbit ( Oryctolagus cuniculus, 2n=44) feed in presence of verbascoside and/or lycopene. Food and Chemical Toxicology 2018, 114, 311 -315.
AMA StyleAngela Perucatti, Viviana Genualdo, Alfredo Pauciullo, Ciro Iorio, Domenico Incarnato, Cristina Rossetti, Francesco Vizzarri, Marisa Palazzo, Donato Casamassima, Leopoldo Iannuzzi, Alessandra Iannuzzi. Cytogenetic tests reveal no toxicity in lymphocytes of rabbit ( Oryctolagus cuniculus, 2n=44) feed in presence of verbascoside and/or lycopene. Food and Chemical Toxicology. 2018; 114 ():311-315.
Chicago/Turabian StyleAngela Perucatti; Viviana Genualdo; Alfredo Pauciullo; Ciro Iorio; Domenico Incarnato; Cristina Rossetti; Francesco Vizzarri; Marisa Palazzo; Donato Casamassima; Leopoldo Iannuzzi; Alessandra Iannuzzi. 2018. "Cytogenetic tests reveal no toxicity in lymphocytes of rabbit ( Oryctolagus cuniculus, 2n=44) feed in presence of verbascoside and/or lycopene." Food and Chemical Toxicology 114, no. : 311-315.
Meichao Gu; Di Liu; Hemin Ni; Xihui Sheng; Alfredo Pauciullo; Xiaolong Qi; Yunhai Liu; Yong Guo. Role of X-linked inhibitor of apoptosis ( XIAP ) in frozen and thawed dormant and normal-hatched murine blastocysts. Cryobiology 2018, 82, 112 -117.
AMA StyleMeichao Gu, Di Liu, Hemin Ni, Xihui Sheng, Alfredo Pauciullo, Xiaolong Qi, Yunhai Liu, Yong Guo. Role of X-linked inhibitor of apoptosis ( XIAP ) in frozen and thawed dormant and normal-hatched murine blastocysts. Cryobiology. 2018; 82 ():112-117.
Chicago/Turabian StyleMeichao Gu; Di Liu; Hemin Ni; Xihui Sheng; Alfredo Pauciullo; Xiaolong Qi; Yunhai Liu; Yong Guo. 2018. "Role of X-linked inhibitor of apoptosis ( XIAP ) in frozen and thawed dormant and normal-hatched murine blastocysts." Cryobiology 82, no. : 112-117.
Prolactin is an anterior pituitary peptide hormone involved in many different endocrine activities and is essential for reproductive performance. This action is mediated by its receptor, the prolactin receptor, encoded by the PRLR gene. In this study, we sequenced and characterized the Mediterranean river buffalo PRLR gene (from exon 3 to 10), and we found remarkable genetic diversity. In particular, we found 24 intronic polymorphisms and 13 exonic SNPs, seven of which were non‐synonymous. Furthermore, the polymorphisms identified in the 3′‐UTR were investigated to establish their possible influence on microRNA binding sites. Considering all the amino acid changes and the observed allelic combinations, it is possible to deduce at least six different translations of the buffalo prolactin receptor and, consequently, the presence at the PRLR gene of at least six alleles. Furthermore, we identified a deletion of a CACTACC heptamer between nucleotides 1102 and 1103 of exon 10 (3′‐UTR), and we developed an allele‐specific PCR to identify the carriers of this genetic marker. Finally, the SNP g.11188A>G, detected in exon 10 and responsible for the amino acid replacement p.His328Arg, was genotyped in 308 Italian Mediterranean river buffaloes, and an association study with milk fat traits was carried out. The statistical analysis showed a tendency that approached significance for the AA genotype with higher contents of odd branched‐chain fatty acids. Thus, our results suggest that the PRLR gene is a good candidate for gene association studies with qualitative traits related to buffalo milk production.
G. Cosenza; M. Iannaccone; B. Auzino; N. P. P. Macciotta; A. Kovitvadhi; I. Nicolae; A. Pauciullo. Remarkable genetic diversity detected at river buffaloprolactin receptor(PRLR) gene and association studies with milk fatty acid composition. Animal Genetics 2018, 49, 159 -168.
AMA StyleG. Cosenza, M. Iannaccone, B. Auzino, N. P. P. Macciotta, A. Kovitvadhi, I. Nicolae, A. Pauciullo. Remarkable genetic diversity detected at river buffaloprolactin receptor(PRLR) gene and association studies with milk fatty acid composition. Animal Genetics. 2018; 49 (3):159-168.
Chicago/Turabian StyleG. Cosenza; M. Iannaccone; B. Auzino; N. P. P. Macciotta; A. Kovitvadhi; I. Nicolae; A. Pauciullo. 2018. "Remarkable genetic diversity detected at river buffaloprolactin receptor(PRLR) gene and association studies with milk fatty acid composition." Animal Genetics 49, no. 3: 159-168.
The DGAT1 catalyses the last reaction of the triacylglycerol synthesis and, in cattle, it was assessed as QTL for milk fat. Among ruminants, the buffaloes produce milk with a higher fat content; therefore, the improvement of this trait is one of the main goals for the progress of the species. The transcriptomic profile of DGAT1 in lactating buffaloes was never investigated. Our data revealed complex mRNA patterns and genetic diversity in buffaloes with extreme milk fat phenotypes. These findings open the opportunity for new transcriptomic investigations in fat metabolism genes, including the future possibility to select alleles with favourable characteristics
M. Gu; G. Cosenza; I. Nicolae; A. Bota; Y. Guo; Liliana Di Stasio; A. Pauciullo. Transcript analysis at DGAT1 reveals different mRNA profiles in river buffaloes with extreme phenotypes for milk fat. Journal of Dairy Science 2017, 100, 8265 -8276.
AMA StyleM. Gu, G. Cosenza, I. Nicolae, A. Bota, Y. Guo, Liliana Di Stasio, A. Pauciullo. Transcript analysis at DGAT1 reveals different mRNA profiles in river buffaloes with extreme phenotypes for milk fat. Journal of Dairy Science. 2017; 100 (10):8265-8276.
Chicago/Turabian StyleM. Gu; G. Cosenza; I. Nicolae; A. Bota; Y. Guo; Liliana Di Stasio; A. Pauciullo. 2017. "Transcript analysis at DGAT1 reveals different mRNA profiles in river buffaloes with extreme phenotypes for milk fat." Journal of Dairy Science 100, no. 10: 8265-8276.
Embryonic cryopreservation has a relatively low survival rate because of cytoskeletal damage. However, molecular anti-freezing mechanisms have been largely unexplored. This study investigated the significance of RhoA, involved in embryonic development, and the Rho/RhoA-associated kinase (ROCK) signalling pathway in cryopreservation. The anti-freezing mechanism in murine dormant embryos, compared with normal blastocysts, was assessed by combining molecular, physiological and pharmacological approaches. Real-time PCR and western blotting experiments showed high RhoA expression in cryo-dormant and dormant embryos. RhoA GTPases were overexpressed on the surface of trophectoderm cells in dormant embryos. Treatment with Y-27632, a ROCK antagonist, decreased survival of both normal and dormant blastocysts, while recombinant RhoA protein remarkably increased survival, after freeze-thawing, of normal hatched blastocysts. Our findings elucidated the molecular mechanism of anti-freezing, involving RhoA phosphorylation, meditated by the Rho/ROCK signalling pathway, in hatched and diapaused murine blastocysts. In addition, evidence for a potentially protective additive suggests a new method for improving the anti-freezing potential of mammalian embryos, without protecting the zona pellucida.
Meichao Gu; Hemin Ni; Xihui Sheng; Alfredo Pauciullo; Yunhai Liu; Yong Guo. RhoA phosphorylation mediated by Rho/RhoA-associated kinase pathway improves the anti-freezing potentiality of murine hatched and diapaused blastocysts. Scientific Reports 2017, 7, 6705 .
AMA StyleMeichao Gu, Hemin Ni, Xihui Sheng, Alfredo Pauciullo, Yunhai Liu, Yong Guo. RhoA phosphorylation mediated by Rho/RhoA-associated kinase pathway improves the anti-freezing potentiality of murine hatched and diapaused blastocysts. Scientific Reports. 2017; 7 (1):6705.
Chicago/Turabian StyleMeichao Gu; Hemin Ni; Xihui Sheng; Alfredo Pauciullo; Yunhai Liu; Yong Guo. 2017. "RhoA phosphorylation mediated by Rho/RhoA-associated kinase pathway improves the anti-freezing potentiality of murine hatched and diapaused blastocysts." Scientific Reports 7, no. 1: 6705.
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.
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 StyleA. 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 StyleA. 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.
The natural occurrence of live hybrid offsprings between sheep and goats has been documented in literature, however all the studies have reported the mating of goats with rams, whereas the reciprocal cross was never documented. This study reports on a very rare case of interspecies hybridization occurred between a ewe (2n = 54, XX) and a buck (2n = 60, XY). The hybrid, born in a German flock under natural conditions, is characterised by an intermediate karyotype (2n = 57, XX). The CBA-banding has shown 3 metacentric and 54 acrocentric chromosomes, whereas the GTG- and RBA-banding have revealed that the autosomes involved in the hybrid combination were CHI1, 3; CHI2, 8 and CHI5, 11 corresponding to the metacentric chromosomes OAR1, OAR2 and OAR3. A tri-colour FISH using chromosome paintings and BAC probes has validated this arrangement. A further FISH analysis has been carried out to analyse the telomeres, which showed a normal structure. Nucleolus organiser-bearing chromosomes were identified as pairs OAR1p(CHI3), OAR2q(CHI2), OAR3q(CHI5), OAR4(CHI4) and OAR25(CHI28), and nuclear associations were found. Sex chromosomes were correctly arranged. The odd number of the karyotype might be responsible for a reduced fertility as consequence of the incorrect chromosomal pairing and/or segregation during the meiosis.
Alfredo Pauciullo; Christoph Knorr; Angela Perucatti; Alessandra Iannuzzi; Leopoldo Iannuzzi; Georg Erhardt. Characterization of a very rare case of living ewe-buck hybrid using classical and molecular cytogenetics. Scientific Reports 2016, 6, 34781 .
AMA StyleAlfredo Pauciullo, Christoph Knorr, Angela Perucatti, Alessandra Iannuzzi, Leopoldo Iannuzzi, Georg Erhardt. Characterization of a very rare case of living ewe-buck hybrid using classical and molecular cytogenetics. Scientific Reports. 2016; 6 (1):34781.
Chicago/Turabian StyleAlfredo Pauciullo; Christoph Knorr; Angela Perucatti; Alessandra Iannuzzi; Leopoldo Iannuzzi; Georg Erhardt. 2016. "Characterization of a very rare case of living ewe-buck hybrid using classical and molecular cytogenetics." Scientific Reports 6, no. 1: 34781.
Open Access Agricultural Journals published by Institute of Agricultural Economics and Information
A.M. Salzano; Alfredo Pauciullo; D. Ambrosio C; Gianfranco Novi; M. Strazzullo; A. Scaloni; Chiara D'ambrosio. Bovine hemoglobin polymorphism: a novel alpha-globin variant identified in the Agerolese breed from southern Italy. Czech Journal of Animal Science 2016, 60, 145 -151.
AMA StyleA.M. Salzano, Alfredo Pauciullo, D. Ambrosio C, Gianfranco Novi, M. Strazzullo, A. Scaloni, Chiara D'ambrosio. Bovine hemoglobin polymorphism: a novel alpha-globin variant identified in the Agerolese breed from southern Italy. Czech Journal of Animal Science. 2016; 60 (No. 4):145-151.
Chicago/Turabian StyleA.M. Salzano; Alfredo Pauciullo; D. Ambrosio C; Gianfranco Novi; M. Strazzullo; A. Scaloni; Chiara D'ambrosio. 2016. "Bovine hemoglobin polymorphism: a novel alpha-globin variant identified in the Agerolese breed from southern Italy." Czech Journal of Animal Science 60, no. No. 4: 145-151.
Over the last decades, an increase of pollutants of diverse origin (industrial, military, mining, etc.) was recorded in several areas of Sardinia Island. We report the results of a multidisciplinary and complementary study based on cytogenetic and physiological analyses. The data obtained show the effects of the environmental impact on six sheep flocks (Sardinian breed) grazing on natural pasturelands next to possible polluted areas and compared to three herds grazing in different areas far from those potentially contaminated and used as control. Sister chromatid exchange (SCE) test was used as cytogenetic test to analyze chromosomal damages and it was performed on peripheral blood samples collected from 129 adult sheep (age > 4 years) randomly selected from polluted (92 animals) and control (37 animals) areas. Two types of cell cultures were performed: without (normal cultures) and with the addition of 5-BrdU. SCE-mean values estimated over 35 cells counted for each animal were 8.65 ± 3.40, 8.10 ± 3.50, 8.05 ± 3.08, 7.42 ± 3.34, 9.28 ± 3.56 and 8.38 ± 3.29 in the exposed areas, whereas the average values were 7.86 ± 3.31 in the control group. Significant increases (P < 0.01) of SCEs were found in three investigated areas of Southern Sardinia. Furthermore, sheep of the same flocks were characterized for blood redox homeostasis in order to define the potential targets of oxidative damage and to identify biomarkers of the extent of animal exposure to environmental contaminants. The plasma levels of Asc, Toc and Ret were found to be significantly lower (P < 0.001) in exposed sheep (I, II, IV and V) than in the control group. TAC as well as GPx and SOD activities were higher in control than in the exposed groups (P < 0.001). Finally, plasma levels of N-Tyr, PC, and LPO were significantly lower (P < 0.001) in the control group than in the exposed groups.
Viviana Genualdo; Angela Perucatti; Alfredo Pauciullo; Alessandra Iannuzzi; Domenico Incarnato; Maria Stefania Spagnuolo; Nicolina Solinas; Simonetta Bullitta; Leopoldo Iannuzzi. Analysis of chromosome damage by sister chromatid exchange (SCE) and redox homeostasis characterization on sheep flocks from Sardinian pasturelands. Science of The Total Environment 2015, 527-528, 393 -400.
AMA StyleViviana Genualdo, Angela Perucatti, Alfredo Pauciullo, Alessandra Iannuzzi, Domenico Incarnato, Maria Stefania Spagnuolo, Nicolina Solinas, Simonetta Bullitta, Leopoldo Iannuzzi. Analysis of chromosome damage by sister chromatid exchange (SCE) and redox homeostasis characterization on sheep flocks from Sardinian pasturelands. Science of The Total Environment. 2015; 527-528 ():393-400.
Chicago/Turabian StyleViviana Genualdo; Angela Perucatti; Alfredo Pauciullo; Alessandra Iannuzzi; Domenico Incarnato; Maria Stefania Spagnuolo; Nicolina Solinas; Simonetta Bullitta; Leopoldo Iannuzzi. 2015. "Analysis of chromosome damage by sister chromatid exchange (SCE) and redox homeostasis characterization on sheep flocks from Sardinian pasturelands." Science of The Total Environment 527-528, no. : 393-400.