study of fatty acid synthase and adiponectin snps in the italian duroc breed

AbstractFatty acid synthase (FASN) is a multifunctional enzyme that plays a central role in fatty acid biosynthesis catalysing the conversion of acetyl-CoA and malonyl-CoA into long-chain saturated fatty acids and has an important role in energy homeostasis. Pig FASN gene has been assigned to chromosome 12p1.5 and a T>C polymorphism in the fourth exon was found. Adiponectin (ADN) is a fat-derived hormone involved in insulin sensitivity, in lipid and glucose metabolism. In literature is reported that the gene was mapped on chromosome 13 at 53.6 cM, in a region containing QTL for intramuscolar fat (IMF). In this gene several SNPs were identified and one of these polymorphisms (a G>A missense mutation within the 60th codon) determining the Val-Ile substitution in the protein, has been previously reported.The aim of this work is to analyse the variability of polymorphisms of fatty acid synthase described by Munoz et al., 2003 (Anim. Genet. 34:234) and adiponectin genes, candidates for meat and carcass quality..

Methanol masers reveal the magnetic field of the high-mass protostar IRAS 18089-1732

Context. The importance of the magnetic field in high-mass-star formation is not yet fully clear and there are still many open questions concerning its role in the accretion processes and generation of jets and outflows. In the past few years, masers have been successfully used to probe the magnetic field morphology and strength at scales of a few au around massive protostars, by measuring linear polarisation angles and Zeeman splitting. The massive protostar IRAS 18089-1732 is a well studied high-mass-star forming region, showing a hot core chemistry and a disc-outflow system. Previous SMA observations of polarised dust revealed an ordered magnetic field oriented around the disc of IRAS 18089-1732. Aims. We want to determine the magnetic field in the dense region probed by 6.7 GHz methanol maser observations and compare it with observations in dust continuum polarisation, to investigate how the magnetic field in the compact maser region relates to the large-scale field around massive protostars. Methods. We reduced MERLIN observations at 6.7 GHz of IRAS 18089-1732 and we analysed the polarised emission by methanol masers. Results. Our MERLIN observations show that the magnetic field in the 6.7 GHz methanol maser region is consistent with the magnetic field constrained by the SMA dust polarisation observations. A tentative detection of circularly polarised line emission is also presented. Conclusions. We found that the magnetic field in the maser region has the same orientation as in the disk. Thus the large-scale field component, even at the au scale of the masers, dominates over any small-scale field fluctuations. We obtained, from the circular polarisation tentative detection, a field strength along the line of sight of 5.5 mG which appeared to be consistent with the previous estimates.Comment: 12 pages, 7 figures, accepted for publication in A&

Analysis of melanocortin 1 receptor (MC1R) gene polymorphisms in some cattle breeds: their usefulness and application for breed traceability and authentication of Parmigiano Reggiano cheese

l legame tra un prodotto di origine animale e la razza da cui questo \ue8 originato rappresenta un aspetto importante per la valorizzazione di alcune produzioni. Il maggior prezzo che questi prodotti spuntano sul mercato fa emergere l\u2019esigenza di poter autenticare o tracciare i prodotti mono-razza per smascherare e scoraggiare possibili frodi. A questo scopo sono stati proposti sistemi di analisi del DNA, alcuni dei quali utilizzano marcatori in geni che determinano il colore del mantello, che \ue8 uno dei principali caratteri che differenziano tra di loro le razze. Diverse mutazioni nel gene melanocortin 1 receptor (MC1R) sono gi\ue0 state associate a particolari effetti sul colore del mantello nella specie bovina. In questa ricerca abbiamo studiato la presenza dei principali alleli al locus MC1R, per valutare la possibilit\ue0 di utilizzare questo gene per l\u2019autenticazione e la tracciabilit\ue0 di razza dei prodotti lattiero-caseari. Le mutazioni che permettono di distinguere questi alleli sono state analizzate utilizzando protocolli di PCR-RFLP e PCR-APLP su un totale di 1360 animali appartenenti a 18 razze bovine. Per ognuna delle seguenti razze, Frisona Italiana, Bruna Italiana, Pezzata Rossa Italiana, Jersey, Rendena, Reggiana e Modenese, \ue8 stato possibile analizzare pi\uf9 di 70 animali. L\u2019allele Ed \ue8 stato identificato nella razza Frisona Italiana con una frequenza dello 0,886. L\u2019allele E (nomenclatura che include tutti gli alleli tranne che e, Ed e E1) \ue8 stato identificato con alta frequenza nella Bruna Italiana (0,591), Rendena (0,738), Jersey (0,955) e Modenese (0,961) e con bassa frequenza nella Pezzata Rossa Italiana (0,029). Inoltre, questo allele \ue8 stato osservato nella Rossa Svedese, Rossa Danese, Grigio Alpina, Piemontese, Romagnola, Marchigiana e Chianina. In alcune di queste razze (Bruna Italiana, Rendena, Grigio Alpina, Piemontese, Rossa Svedese e Rossa Danese) \ue8 stato identificato anche l\u2019allele E1. L\u2019allele e \ue8 risultato fissato nella razza Reggiana e quasi fissato nella razza Pezzata Rossa Italiana. Inoltre, con bassa frequenza, \ue8 stato identificato in tutte le altre razze analizzate, tranne che nella Marchigiana. Le differenze osservate tra razze esaminate indicano che, almeno in alcuni casi, \ue8 possibile utilizzare i polimorfismi del gene MC1R per escludere o confermare l\u2019impiego di latte di una determinata razza nella produzione di un prodotto lattiero-caseario. Il caso pi\uf9 interessante \ue8 quello del formaggio Parmigiano Reggiano prodotto con l\u2019uso esclusivo di latte di bovine di razza Reggiana. Infatti, essendo presente in questa razza soltanto l\u2019allele e il rilievo analitico di qualsiasi altro allele nel DNA estratto dal formaggio rivela l\u2019uso di latte proveniente da altre razze. La messa a punto di un metodo PCR-RFLP per l\u2019analisi del DNA estratto da prodotti lattiero caseari, incluso il Parmigiano Reggiano di oltre 24 mesi di stagionatura, rappresenta uno strumento importante per la difesa di questo prodotto mono-razza da eventuali frodi. I risultati ottenuti su 10 forme di formaggio prodotto esclusivamente con latte di bovine di razza Reggiana e su 15 forme di Parmigiano Reggiano commerciale ottenuto senza restrizione della razza di origine del latte hanno mostrato la validit\ue0 del metodo del quale \ue8 stata valutata anche la sensibilit\ue0n cattle, the MC1R gene has been the subject of several studies with the aim to elucidate the biology of coat colour. Then, polymorphisms of this gene have been proposed as tools for breed identification and animal products authentication. As a first step to identify breed specific DNA markers that can be used for the traceability of mono-breed dairy cattle products we investigated, using PCR-RFLP and PCR-APLP protocols, the presence and distribution of some alleles at the MC1R locus in 18 cattle breeds for a total of 1360 animals. For each of seven breeds (Italian Holstein, Italian Brown, Italian Simmental, Rendena, Jersey, Reggiana and Modenese) a large number of animals (>70) was genotyped so the obtained results can be considered with more confidence. Allele Ed was identified only in black pied cattle (Italian Holstein and Black Pied Valdostana). Allele E (this nomenclature includes all alleles except Ed, E1 and e) was observed in Italian Brown, Rendena, Jersey, Modenese, Italian Simmental, Grigio Alpina, Piedmontese, Chianina, Romagnola, Marchigiana, Swedish Red and White and Danish Red. Allele E1 was identified in Italian Brown, Rendena, Grigio Alpina, Piedmontese, Swedish Red and White and Danish Red. The recessive allele e, known to cause red coat colour, was fixed in Reggiana and almost fixed in Italian Simmental. This allele was observed also in Italian Holstein, Italian Brown, Rendena, Jersey and Modenese albeit with low frequency. Moreover, this allele was detected in Valdostana, Pezzata Rossa d\u2019Oropa, Piedmontese, Romagnola, Swedish Red and White, Danish Red, Charoleis and Salers. In the case of the Reggiana breed, which is fixed for allele e, the MC1R locus is highly informative with respect to breeds that carry other alleles or in which allele e is at very low frequency. In theory, using the MC1R locus it is possible to identify the presence of milk from some other breeds in Parmigiano Reggiano cheese labelled as exclusively from the Reggiana breed. This possibility was practically tested by setting up protocols to extract and analyse polymorphisms of the MC1R locus in several dairy products, including Parmigiano Reggiano cheese cured for 30 months. The lower detection limit was estimated to be 5% of non expected DNA. This test can represent a first deterrent against fraud and an important tool for the valorisation and authentication of Parmigiano Reggiano cheese obtained from only Reggiana milk

A melanocortin 1 receptor (MC1R) gene polymorphism is useful for authentication of Massese sheep dairy products

Massese is an Italian sheep breed, with black or grey coat colour, mainly reared in the Tuscany and Emilia Romagna regions. Recently, the emerging interests in this breed have resulted in the production of Pecorino cheese obtained with only Massese milk. In order to be profitable, this marketing link between Massese breed and its products should be defended against fraudsters who could include milk of other sheep breeds or cow milk in Massese labelled productions. To identify the genetic factors affecting coat colour in sheep, we have recently analysed the melanocortin 1 receptor (MC1R) gene and identified several single nucleotide polymorphisms (SNPs). In this work, as a first step to set up a DNA based protocol for authentication of Massese dairy products, we further investigated the presence and distribution of one of these SNPs (c.-31G>A) in 143 Massese sheep and in another 13 sheep breeds (for a total of 351 animals). The Massese breed was fixed for allele c.-31A, whereas in all other breeds allele c.-31 G was the most frequent or with frequency of 0\ub750. At the same nucleotide position the cattle MC1R gene carries the G nucleotide. Using these data we developed a method to detect adulterating milk (from other sheep breeds or from cow) in Massese dairy products based on the analysis of the c.-31G>A SNP. We first tested the sensitivity of the protocol and then applied it to analyse DNA extracted from ricotta and Pecorino cheese obtained with only Massese milk or obtained with unrestricted sheep and cattle milk. To our knowledge, this system represents the first one that can be used for breed authentication of a sheep production and that, at the same time, can reveal frauds derived from the admixture of milk of an unreported species

ALMA reveals the magnetic field evolution in the high-mass star forming complex G9.62+0.19

Context. The role of magnetic fields during the formation of high-mass stars is not yet fully understood, and the processes related to the early fragmentation and collapse are largely unexplored today. The high-mass star forming region G9.62+0.19 is a well known source, presenting several cores at different evolutionary stages. Aims. We determine the magnetic field morphology and strength in the high-mass star forming region G9.62+0.19, to investigate its relation to the evolutionary sequence of the cores. Methods. We use Band 7 ALMA observations in full polarisation mode and we analyse the polarised dust emission. We estimate the magnetic field strength via the Davis-Chandrasekhar-Fermi and the Structure Function methods. Results. We resolve several protostellar cores embedded in a bright and dusty filamentary structure. The polarised emission is clearly detected in six regions. Moreover the magnetic field is oriented along the filament and appears perpendicular to the direction of the outflows. We suggest an evolutionary sequence of the magnetic field, and the less evolved hot core exhibits a magnetic field stronger than the more evolved one. We detect linear polarisation from thermal line emission and we tentatively compared linear polarisation vectors from our observations with previous linearly polarised OH masers observations. We also compute the spectral index, the column density and the mass for some of the cores. Conclusions. The high magnetic field strength and the smooth polarised emission indicate that the magnetic field could play an important role for the fragmentation and the collapse process in the star forming region G9.62+019 and that the evolution of the cores can be magnetically regulated. On average, the magnetic field derived by the linear polarised emission from dust, thermal lines and masers is pointing in the same direction and has consistent strength.Comment: accepted by A&A, version after language editin

Analysis of PRKAG3 gene polymorphisms in Italian autochthonous pig breeds.

The PRKAG3 gene encodes for the regulatory gamma 3 subunit of adenosine monophosfate-activated protein kinase (AMPK) protein that acts as a regulator of carbohydrate and fat metabolism. Several single nucleotide polymorphisms (SNPs) have been identified in the porcine PRKAG3 gene. Two of them (c.595A>G or p.I199V and c.599G>A or p.R200Q) have been associated with variability of meat quality and carcass traits. In this study, we investigated the frequency of the c.595A>G and c.599G>A SNPs in 372 animals of five Italian autochthonous pig breeds (Apulo-Calabrese, Casertana, Cinta Senese, Mora Romagnola and Nero Siciliano). Genomic DNA were extracted from hair roots or blood and SNPs genotyping was performed by PCR-RFLP protocols. The c.599A (p.200Q) allele was carried by only 3 Nero Siciliano pigs. All five breeds were polymorphic at the c.595A>G site. The c.595A (p.I199) allele was the less frequent in the analysed breeds with minor allele frequency ranging from 0.144 (Nero Siciliano) to 0.464 (Casertana). Based on identified allele frequencies, the c.595A>G SNP can be useful in association studies with meat, carcass and ham quality traits in the Italian local pig breeds

A first comparative map of copy number variations in the sheep genome

We carried out a cross species cattle–sheep array comparative genome hybridization experiment to identify copy number variations (CNVs) in the sheep genome analysing ewes of Italian dairy or dual-purpose breeds (Bagnolese, Comisana, Laticauda, Massese, Sarda, and Valle del Belice) using a tiling oligonucleotide array with ~385,000 probes designed on the bovine genome. We identified 135 CNV regions (CNVRs; 24 reported in more than one animal) covering ~10.5 Mb of the virtual sheep genome referred to the bovine genome (0.398%) with a mean and a median equal to 77.6 and 55.9 kb, respectively. A comparative analysis between the identified sheep CNVRs and those reported in cattle and goat genomes indicated that overlaps between sheep and both other species CNVRs are highly significant (Pb0.0001), suggesting that several chromosome regions might contain recurrent interspecies CNVRs. Many sheep CNVRs include genes with important biological functions. Further studies are needed to evaluate their functional relevance

Single-marker and haplotype-based genome-wide association studies for the number of teats in two heavy pig breeds

The number of teats is a reproductive-related trait of great economic relevance as it affects the mothering ability of the sows and thus the number of properly weaned piglets. Moreover, genetic improvement of this trait is fundamental to parallelly help the selection for increased litter size. We present the results of single-marker and haplotypes-based genome-wide association studies for the number of teats in two large cohorts of heavy pig breeds (Italian Large White and Italian Landrace) including 3990 animals genotyped with the 70K GGP Porcine BeadChip and other 1927 animals genotyped with the Illumina PorcineSNP60 BeadChip. In the Italian Large White population, genome scans identified three genome regions (SSC7, SSC10, and SSC12) that confirmed the involvement of the VRTN gene (as we previously reported) and highlighted additional loci known to affect teat counts, including the FRMD4A and HOXB1 gene regions. A different picture emerged in the Italian Landrace population, with a total of 12 genome regions in eight chromosomes (SSC3, SSC6, SSC8, SSC11, SSC13, SSC14, SSC15, and SSC16) mainly detected via the haplotype-based genome scan. The most relevant QTL was close to the ARL4C gene on SSC15. Markers in the VRTN gene region were not significant in the Italian Landrace breed. The use of both single-marker and haplotype-based genome-wide association analyses can be helpful to exploit and dissect the genome of the pigs of different populations. Overall, the obtained results supported the polygenic nature of the investigated trait and better elucidated its genetic architecture in Italian heavy pigs

Surgery for Intraductal Papillary Mucinous Neoplasms of the Pancreas: Preoperative Factors Tipping the Scale of Decision-Making

Background: Decision-making in intraductal papillary mucinous neoplasms (IPMNs) of the pancreas depends on scaling the risk of malignancy with the surgical burden of a pancreatectomy. This study aimed to develop a preoperative, disease-specific tool to predict surgical morbidity for IPMNs. Methods: Based on preoperative variables of resected IPMNs at two high-volume institutions, classification tree analysis was applied to derive a predictive model identifying the risk factors for major morbidity (Clavien-Dindo ≥3) and postoperative pancreatic insufficiency. Results: Among 524 patients, 289 (55.2%) underwent pancreaticoduodenectomy (PD), 144 (27.5%) underwent distal pancreatectomy (DP), and 91 (17.4%) underwent total pancreatectomy (TP) for main-duct (18.7%), branch-duct (12.6%), or mixed-type (68.7%) IPMN. For 98 (18.7%) of the patients, major morbidity developed. The classification tree distinguished different probabilities of major complications based on the type of surgery (area under the surve [AUC] 0.70; 95% confidence interval [CI], 0.63-0.77). Among the DP patients, the presence of preoperative diabetes identified two risk classes with respective probabilities of 5% and 25% for the development of major morbidity, whereas among the PD/TP patients, three different classes with respective probabilities of 15%, 20%, and 36% were identified according to age and body mass index (BMI). Overall, history of diabetes, age, and cyst size segregated three different risk classes for new-onset/worsening diabetes. Conclusions: In presumed IPMNs, the disease-specific risk of major morbidity and pancreatic insufficiency can be determined in the preoperative setting and used to personalize the possible surgical indication. Age and overweight status in case of PD/TP and diabetes in case of DP tip the scale toward less aggressive clinical management in the absence of features suggestive for malignancy

Percutaneous radiofrequency ablation in intrahepatic cholangiocarcinoma: a retrospective single-center experience

Background & aims: Very few data are available in literature about the role of radiofrequency ablation (RFA) in intrahepatic cholangiocarcinoma (ICC) and previous studies are mainly case reports and case series on a very small number of patients and nodules. In this study, we aimed to evaluate effectiveness and safety of RFA for the treatment of unresectable ICC. Methods: This is a retrospective observational cohort study comprising all consecutive patients treated with RFA for unresectable ICC at Policlinico Sant’Orsola Malpighi Hospital, Bologna, Italy. Primary endpoint was Local Tumor Progression-Free Survival (LTPFS) while Overall Survival (OS) was also assessed as secondary endpoint. Results: From January 2014 to June 2019, 29 patients with 117 nodules underwent RFA. Technique effectiveness 1 month after RFA was 92.3%; median LTPFS was 9.27 months. Univariate analysis and multivariate analysis showed that LTPFS was significantly related to tumor size ≥20 mm. At a median follow up of 39.9 months, median OS from the date of RFA was 27.5 months, with an OS of 89%, 45% and 11% at 1, 2 and 4 years, respectively. Number of overall lesions and the sum of their diameter at the moment of the first RFA significantly affected OS in multivariate analysis. Minor and major complication rates were 14% and 7%, respectively. Conclusion: Tumor size ≥20 mm was associated with lower LTPFS, representing a potential useful threshold value. A careful evaluation of tumor burden appears as a crucial element in choosing the best therapeutic strategy in unresectable ICC