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Abstract Scrapie is a transmissible spongiform encephalopathy affecting sheep and goats. The prion protein-encoding gene (PRNP) plays a crucial role in determining susceptibility and resistance to scrapie. At the European level, surveillance of scrapie is essential to prevent the spread of the disease to livestock. According to the Regulation EU 2020/772 polymorphisms K222, D/S146 could function as resistance alleles in the genetic management of disease prevention. In Italy, a breeding plan for scrapie eradication has not been implemented for goats. However, surveillance plans based on the PRNP genotype have been developed as a preventive measure for scrapie. This research aimed to describe the polymorphisms at 7 positions within the PRNP gene in 956 goats of the Alpine, Saanen and mixed populations farmed in the Lombardy Region in Italy. PRNP polymorphisms were detected using single nucleotide polymorphism markers included in the Neogen GGP Goat 70 k chip. The K222 allele occurred in all populations, with frequencies ranging from 2.1 to 12.7%. No animals carried the S/D146 resistance allele. However, it has been demonstrated that polymorphisms in the other positions analysed could influence resistance or susceptibility to scrapie outbreaks in different ways. Ten potentially distinct haplotypes were found, and the most prevalent of the three populations was H2, which differed from the wild type (H1) in terms of mutation (S vs P) at codon 240. This study provided additional information on the genetic variability of the PRNP gene in these populations in the Lombardy region of Italy, contributing to the development of genetic control measures for disease prevention.

The history of turkey (Meleagris gallopavo) domestication can be traced back to the period between 700 and 200 BC in Mexico. This process involved multiple contributors and resulted in the development of modern local turkey breeds. This research investigates the complete mitochondrial diversity across a diverse range of local turkeys. Seventy-three turkeys were sampled from various populations, including autochthonous Italian breeds, an American breed (Narragansett), as well as wild turkeys from the USA and Mexico. The mitochondrial DNA (mtDNA) was employed as a powerful tool for biodiversity and breed phylogeny investigation. An analysis of the entire mtDNA was conducted to identify breed-specific unique traits, mitochondrial-specific characteristics, and the phylogenetic relationship among turkey populations. A total of 44 polymorphic sites were identified. Brianzolo and Narragansett birds were characterized as genetically homogeneous populations. Thirty-two different haplotypes were identified when our samples were compared with mtDNA D-loop of 96 online available turkeys from various geographical countries. H1 and H2, differing for one mutation, were the most abundant, comprising 132 of the 185 sequences. H1 included samples coming from every region, while H2 was predominantly characterized by Italian samples. USA and Mexican samples appear to be more variable in their mtDNA than the other populations.

The Aosta cattle breeds have a key role in the economy of the Aosta Valley. In addition to the meat and milk production these autochthonous breeds are important for their cultural value, and for their role in the maintenance of the mountain environment. The knowledge of their genetic makeup represents a fundamental asset to managing the reproduction of the population in order to maintain the existing genetic diversity and, as a possible input, to apply genomic selection in a small population. A total of 3195 Aosta cows were genotyped with the GeneSeek Genomic Profiler® (GGP) Bovine 100K by Neogen in the framework of the DUALBREEDING-2 project. The Aosta Black-Chestnut and Chestnut-Herèn resulted to be a unique population. The Aosta female population had shorter ROH than bulls and shared ROH_islands that harbour adaptative and functional genes. Allele frequencies of major genes highlight the possibility for selection for both milk and meat quality variants and that the Aosta cattle population is free from the known Mendelian inheritance diseases found in cosmopolitan breeds (e.g. BLAD, CVM, HCD).

In this study we investigated the genetic variability, the inbreeding and allele frequencies of monogenic traits in seven herds of Holstein breed and provided insight to farmers on the value of genomic management of reproduction in their herds. A total of 3,953 Holstein cows were sampled and genotyped with the Neogen GGP Bovine 100K SNP chip within the activities of the Regione Lombardia funded GO-PEI project ‘GENOmic tool for the management of reproduction in dairy cattle and for the control of inbreeding – GENORIP’. Principal component analysis was applied for analysing the genetic variability within and among farms using the SVS software of Golden Helix. Run of Homozygosity (ROH) and the genomic inbreeding were obtained with the detectRUNS package of the R software. Genotype frequencies for mendelian disease, fertility and production traits were also obtained. A total of 458,267 ROH were identified and ROH were distributed on all autosomes with an average length of 2,703,811 bp covering 12.7% of the genome. Several genomic regions appear under selection, while a specific region on BTA4 was identified in one herd, harbouring genes mainly related to the specific selection strategy of the farmer. The FROH values obtained considering ROH greater than 16 Mb, varied from 0.004 to 0.325, with the highest FROH average value of 0.136. Among mendelian heritable diseases, the Haplotype Cholesterol Deficiency was the one with the largest proportion of carrier animals, i.e. 5.6%. A herd-tailored process to assist farmers in genomic management of reproduction was released. The ROH distribution within herd, together with the genotype frequencies for disease, fertility and production mendelian traits, suggest that similar directional selection is occurring across herds. This study released to each farmer the genomic make-up of their herd used jointly with the gEBV estimated by their national breeders’ association (ANAFIBJ) for herd reproductive management.

Mastitis is one of the most significant diseases affecting dairy cattle profitability. A genome wide association study (GWAS) was performed using the selective genotyping approach to identify Quantitative Trait Loci (QTL) associated with mastitis susceptibility. According to the received antibiotic treatments in all their productive life, 52 lactating cows have been classified in resistant (no therapy and low SCC) and susceptible (more than one treatment and high SCC) to mastitis. Genotyping of animals was performed using the NEOGEN’s GGP Bovine 100K SNP chip and QTL were identified comparing the SNPs allelic frequencies between the two groups. 26 SNPs related to mastitis susceptibility were identified in 9 chromosomes. The use of treatment data, coupled with SCC from milk recording, improved cow’s classification accuracy in resistant and susceptible individuals. For this reason, the mandatory recording of treatments active from January 2022, could be a new source of information to improve the genetic selection for mastitis resistance.

Copy Number Variants (CNV) are modifications affecting the genome sequence of DNA, for instance, they can be duplications or deletions of a considerable number of base pairs (i.e., greater than 1000 bp and up to millions of bp). Their impact on the variation of the phenotypic traits has been widely demonstrated. In addition, CNVs are a class of markers useful to identify the genetic biodiversity among populations related to adaptation to the environment. The aim of this study was to detect CNVs in more than four thousand Holstein cows, using information derived by a genotyping done with the GGP (GeneSeek Genomic Profiler) bovine 100K SNP chip. To detect CNV the SVS 8.9 software was used, then CNV regions (CNVRs) were detected. A total of 123,814 CNVs (4,150 non redundant) were called and aggregated into 1,397 CNVRs. The PCA results obtained using the CNVs information, showed that there is some variability among animals. For many genes annotated within the CNVRs, the role in immune response is well known, as well as their association with important and economic traits object of selection in Holstein, such as milk production and quality, udder conformation and body morphology. Comparison with reference revealed unique CNVRs of the Holstein breed, and others in common with Jersey and Brown. The information regarding CNVs represents a valuable resource to understand how this class of markers may improve the accuracy in prediction of genomic value, nowadays solely based on SNPs markers.

The increasing number of food frauds, mainly targeting high quality products, is a rising concern among producers and authorities appointed to food controls. Therefore, the development or implementation of methods to reveal frauds is desired. The genetic traceability of traditional or high-quality dairy products (i.e., products of protected designation of origin, PDO) represents a challenging issue due to the technical problems that arise. The aim of the study was to set up a genetic tool for the origin traceability of dairy products. We investigated the use of Short Tandem Repeats (STRs) to assign milk and cheese to the corresponding producer. Two farms were included in the study, and the blood of the cows, bulk milk, and derived cheese were sampled monthly for one year. Twenty STRs were selected and Polymerase Chain Reactions for each locus were carried out. The results showed that bulk milk and derived cheese express an STR profile composed of a subset of STRs of the lactating animals. A bioinformatics tool was used for the exclusion analysis. The study allowed the identification of a panel of 20 markers useful for the traceability of milk and cheeses, and its effectiveness in the traceability of dairy products obtained from small producers was demonstrated.

Belted pig breeds have unique, distinguishing phenotypic characteristics. This review summarises the current knowledge on pig breeds displaying a belted coat pattern. Belts of different widths and positions around the animal’s trunk characterise specific pig breeds from all around the world. All the breeds included in the present paper have been searched through the FAO domestic animal diversity information system (DAD-IS), Every country was checked to identify all breeds described as having black or red piebald coat pattern variations. Advances in genomic technologies have made it possible to identify the specific genes and genetic markers associated with the belted phenotype and explore the genetic relationships between different local breeds. Thus, the origin, history, and production traits of these breeds, together with all the genomic information related to the mechanism of skin pigmentation, are discussed. By increasing our understanding of these breeds, we can appreciate the richness of our biological and cultural heritage and work to preserve the biodiversity of the world’s animals.

Abstract Background In Iran, river buffalo is of great importance. It plays an important role in the economy of the Country, because its adaptation to harsh climate conditions and long productive lifespan permitting its farming across the Country and to convert low-quality feed into valuable milk. The genetic variability in Iranian buffalo breeds have been recently studied using SNPs genotyping data, but a whole genome Copy Number Variants (CNVs) mapping was not available. The aim of this study was to perform a genome wide CNV scan in 361 buffaloes of the three Iranian river breeds (Azeri, Khuzestani and Mazandarani) through the analysis of data obtained using the Axiom® Buffalo Genotyping Array 90 K. Results CNVs detection resulted in a total of 9550 CNVs and 302 CNVRs identified in at least 5% of samples within breed, covering around 1.97% of the buffalo genome. and A total of 22 CNVRs were identified in all breeds and a different proportion of regions were in common among the three populations. Within the more represented CNVRs (n = 302) mapped a total of 409 buffalo genes, some of which resulted associated with morphological, healthy, milk, meat and reproductive traits, according to Animal Genome Cattle database. Conclusions This work provides a step forward in the interpretation of genomic variation within and among the buffalo populations, releasing a first map of CNVs and providing insights about their recent selection and adaptation to environment. The presence of the set of genes and QTL traits harbored in the CNVRs could be possibly linked with the buffalo’s natural adaptive history together to a recent selection for milk used as primary food source from this species.

As genotyping costs continue to decrease, the demand for genotyping has increased among farmers. In most livestock herds, an important issue is controlling the increase in inbreeding coefficient. While this remains a large motive to genotype, producers are often unaware of the other benefits that genotyping could bring. The aim of this study was to demonstrate that SNP chips could be used as an effective herd management tool by utilizing a population of Italian Holstein-Friesian cattle. After filtering, the total number of animals and SNPs retained for analyses were 44 and 27,365, respectively. The principal component analyses (PCA) were able to identify a sire and origin-of-sire effect within the herd, while determining that sires do not influence individual genomic selection index values. The inbreeding coefficients calculated from genotypes (F IS) provided a glimpse into the herd’s heterozygosity and determined that the genetic variability is being well maintained. On the other hand, inbreeding coefficients on the genomic level were deduced from runs of homozygosity (F ROH) and were compared to the inbreeding coefficients based on pedigree (F PED). Furthermore, 1,950 runs of homozygosity (ROH) were identified with the average length of ROH being 4.66 Mb. Genes and QTL within the genomic regions most commonly associated (top 1% and top 5% of SNP) with ROH were characterized. These results indicate that genotyping small herds, albeit at low-density, provides insights to the genetic variability within the herd and thus allows producers the ability to manage their stock from a genetic standpoint.

Abstract Background In the last 50 years, the diversity of cattle breeds has experienced a severe contraction. However, in spite of the growing diffusion of cosmopolite specialized breeds, several local cattle breeds are still farmed in Italy. Genetic characterization of breeds represents an essential step to guide decisions in the management of farm animal genetic resources. The aim of this work was to provide a high-resolution representation of the genome-wide diversity and population structure of Italian local cattle breeds using a medium-density single nucleotide polymorphism (SNP) array. Results After quality control filtering, the dataset included 31,013 SNPs for 800 samples from 32 breeds. Our results on the genetic diversity of these breeds agree largely with their recorded history. We observed a low level of genetic diversity, which together with the small size of the effective populations, confirmed that several breeds are threatened with extinction. According to the analysis of runs of homozygosity, evidence of recent inbreeding was strong in some local breeds, such as Garfagnina, Mucca Pisana and Pontremolese. Patterns of genetic differentiation, shared ancestry, admixture events, and the phylogenetic tree, all suggest the presence of gene flow, in particular among breeds that originate from the same geographical area, such as the Sicilian breeds. In spite of the complex admixture events that most Italian cattle breeds have experienced, they have preserved distinctive characteristics and can be clearly discriminated, which is probably due to differences in genetic origin, environment, genetic isolation and inbreeding. Conclusions This study is the first exhaustive genome-wide analysis of the diversity of Italian cattle breeds. The results are of significant importance because they will help design and implement conservation strategies. Indeed, efforts to maintain genetic diversity in these breeds are needed. Improvement of systems to record and monitor inbreeding in these breeds may contribute to their in situ conservation and, in view of this, the availability of genomic data is a fundamental resource.

El objetivo fue evaluar algunas características morfológicas de gallinas de traspatio (n= 255) provenientes de 65 unidades rurales de producción, localizadas en 52 municipios de 18 estados de la República Mexicana. El modelo estadístico incluyó los efectos de sexo, estado y municipio anidado en estado. El efecto de sexo fue importante para todas las variables analizadas (P

Italian autochthonous turkey breeds are an important reservoir of genetic biodiversity that should be maintained with an in vivo approach. The aim of this study, part of the TuBAvI national project on biodiversity, was to use run of homozygosity (ROH), together with others statistical approaches (e.g., Wright’s F-statistics, principal component analysis, ADMIXTURE analysis), to investigate the genomic diversity in several heritage turkey breeds. We performed a genome-wide characterization of ROH-rich regions in seven autochthonous turkey breeds, i.e., Brianzolo (Brzl), Bronzato Comune Italiano (BrCI), Bronzato dei Colli Euganei (CoEu), Parma e Piacenza (PrPc), Nero d’Italia (NeIt), Ermellinato di Rovigo (ErRo) and Romagnolo (Roma). ROHs were detected based on a 650K SNP genotyping. ROH_islands were identified as homozygous ROH regions shared by at least 75% of birds (within breed). Annotation of genes was performed with DAVID. The admixture analyses revealed that six breeds are unique populations while the Roma breed consists in an admixture of founder populations. Effective population size estimated on genomic data shows a numeric contraction. ROH_islands harbour genes that may be interesting for target selection in commercial populations also. Among them the PTGS2 and PLA2G4A genes on chr10 were related to reproduction efficiency. This is the first study mapping genetic variation in autochthonous turkey populations. Breeds were genetically different among them, with the Roma breed proving to be a mixture of the other breeds. The ROH_islands identified harboured genes peculiar to the selection that occurred in heritage breeds. Finally, this study releases previously undisclosed information on existing genetic variation in the turkey species.

Abstract Background It is known that a paracrine mechanism exists between mesenchymal stem cells and target cells. This process may involve microvesicles (MVs) as an integral component of cell-to-cell communication. Methods In this context, this study aims to understand the efficacy of MVs in in-vitro endometrial stressed cells in view of potential healing in in-vivo studies. For this purpose, the presence and type of MVs secreted by amniotic mesenchymal stem cells (AMCs) were investigated and the response of endometrial cells to MVs was studied using a dose-response curve at different concentrations and times. Moreover, the ability of MVs to counteract the in vitro stress in endometrial cells induced by lipopolysaccharide was studied by measuring the rate of apoptosis and cell proliferation, the expression of some pro-inflammatory genes such as tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), interleukin 1β (IL-1β), and metalloproteinases (MMP) 1 and 13, and the release of some pro- or anti-inflammatory cytokines. Results MVs secreted by the AMCs ranged in size from 100 to 200 nm. The incorporation of MVs was gradual over time and peaked at 72 h. MVs reduced the apoptosis rate, increased cell proliferation values, downregulated pro-inflammatory gene expression, and decreased the secretion of pro-inflammatory cytokines. Conclusion Our data suggest that some microRNAs could contribute to counteracting in-vivo inflammation of endometrial tissue.

Copy number variation (CNV) is a major source of genomic structural variation. The aim of this study was to detect genomic CNV regions (CNVR) in Valle del Belice dairy sheep population and to identify those affecting milk production traits. The GO analysis identified possible candidate genes and pathways related to the selected traits. We identified CNVs in 416 individuals genotyped using the Illumina OvineSNP50 BeadChip array. The CNV association using a correlation-trend test model was examined with the Golden Helix SVS 8.7.0 tool. Significant CNVs were detected when their adjusted p-value was

The Aosta Red Pied (Valdostana Pezzata Rossa (VRP)), the Aosta Black Pied (Valdostana Pezzata Nera (VBP)) and the Aosta Chestnut (Valdostana Castana (CAS)) are dual-purpose cattle breeds (meat and milk), very well adapted to the harsh environmental conditions of alpine territories: their farming is in fact characterized by summer pasture at very high altitude. A total of 728 individuals were genotyped with the GeenSeek Genomic Profiler® (GGP) Bovine 150K Illumina SNP chip as a part of the DUALBREEDING-PSRN Italian-funded research project. The genetic diversity among populations showed that the three breeds are distinct populations based on the FST values, ADMIXTURE and Principal Component Analysis (PCA) results. Runs of Homozygosity (ROH) were obtained for the three populations to disclose recent autozygosity. The genomic inbreeding based on the ROH was calculated and coupled with information derived from the F (inbreeding coefficient) and FST parameters. The mean FROH values were low: CAS = 0.06, VBP = 0.05 and VRP = 0.07, while the average F values were −0.003, −0.01 and −0.003, respectively. The annotation and enrichment analysis, performed in the identified most frequent ROH (TOP_ROH), showed genes that can be linked to the resilience capacity of these populations to harsh environmental farming conditions, and to the peculiar characteristics searched for by farmers in each breed.

El objetivo fue evaluar algunas características morfológicas de pavos de traspatio (n=248) provenientes de 126 unidades rurales de producción localizadas en 75 municipios de 24 estados de la República Mexicana. El modelo estadístico incluyó sexo, estado y municipio anidado en estado. Las tres variables explicativas afectaron a todas las variables de respuesta (P0.05). Los machos tuvieron mayor (P0.05). El peso corporal aumentó 143 g (P

The German Shorthaired Pointer (GSHP) is a breed worldwide known for its hunting versatility. Dogs of this breed are appreciated as valuable companions, effective trackers, field trailers and obedience athletes. The aim of the present work is to describe the genomic architecture of the GSHP breed and to analyze inbreeding levels under a genomic and a genealogic perspective. A total of 34 samples were collected (24 Italian, 10 USA), and the genomic and pedigree coefficients of inbreeding have been calculated. A total of 3183 runs of homozygosity (ROH) across all 34 dogs have been identified. The minimum and maximum number of Single Nucleotide Polymorphisms (SNPs) defining all ROH are 40 and 3060. The mean number of ROH for the sample was 93.6. ROH were found on all chromosomes. A total of 854 SNPs (TOP_SNPs) defined 11 ROH island regions (TOP_ROH), in which some gene already associated with behavioral and morphological canine traits was annotated. The proportion of averaged observed homozygotes estimated on total number of SNPs was 0.70. The genomic inbreeding coefficient based on ROH was 0.17. The mean inbreeding based on genealogical information resulted 0.023. The results describe a low inbred population with quite a good level of genetic variability.

Background The Akhal-Teke horse (AKH) is native of the modern Turkmenistan area. It was introduced in Italy from 1991 to 2000 mainly as an endurance horse. This paper characterizes the genetic variability of the whole Italian AKH horse population and evaluates their inbreeding level by analyzing microsatellite markers and mitochondrial D-Loop sequences. Methods Seventeen microsatellite marker loci were genotyped on 95 DNA samples from almost all the AKH horses bred in Italy in the last 20 years. Standard genetic variability measures (Ho, He, FIS) were compared against the same variables published on other eight AKH populations. In addition, 397 bp of mtDNA D-loop region were sequenced on a sub-group of 22 unrelated AKH out of the 95 sampled ones, and on 11 unrelated Arab horses. The haplotypes identified in the Italian population were aligned to sequences of AKH (56), Arab (five), Caspian Pony (13), Przewalskii (two) and Barb (15) horses available in GenBank. The Median Joining Network (MJN), Principal Component Analysis (PCA) and Neighbor-joining (NJ) tree were calculated on the total 126 sequences. Results Nucleic markers showed a high degree of polymorphism (Ho = 0.642; He = 0.649) and a low inbreeding level (FIS = 0.016) in Italian horses, compared to other AKH populations (ranged from −0.103 AKH from Estonia to 0.114 AKH from Czech Republic). High variability was also recorded in the D-Loop region. 11 haplotypes were identified with haplotype diversity (hd), nucleotide diversity (π) and average number of nucleotide differences (k) of 0.938, 0.021 and 6.448, respectively. When all the 126 D-Loop sequences were compared, 51 haplotypes were found, and four were here found only in the Italian AKH horses. The 51 haplotypes were conformed to eight recognized mtDNA haplogroups (A, C, F, G, L, M, P and Q) and confirmed by MJN analysis, Italian horses being assigned to five haplogroups (A, C, G, L and M). Using a PCA approach to the same data, the total haplotypes were grouped into two clusters including A+C+M+P and G+F haplogroups, while L and Q haplogroups remained ungrouped. Finally, the NJ algorithm effectively discretizes only the L haplogroup. All the above data univocally indicate good genetic variability and accurate management of the Akhal-Teke population in Italy.

Copy number variants (CNVs) are an important source of genomic structural variation, recognized to influence phenotypic variation in many species. Many studies have focused on identifying CNVs within and between human and livestock populations alike, but only few have explored population-genetic properties in cattle based on CNVs derived from a high-density SNP array. We report a high-resolution CNV scan using Illumina's 777k BovineHD Beadchip for Valdostana Red Pied (VRP), an autochthonous Italian dual-purpose cattle population reared in the Alps that did not undergo strong selection for production traits. After stringent quality control and filtering, CNVs were called across 108 bulls using the PennCNV software. A total of 6,784 CNVs were identified, summarized to 1,723 CNV regions (CNVRs) on 29 autosomes covering a total of ~59 Mb of the UMD3.1 assembly. Among the mapped CNVRs, there were 812 losses, 832 gains and 79 complexes. We subsequently performed a comparison of CNVs detected in the VRP and those available from published studies in the Italian Brown Swiss (IBS) and Mexican Holstein (HOL). A total of 171 CNVRs were common to all three breeds. Between VRP and IBS, 474 regions overlapped, while only 313 overlapped between VRP and HOL, indicating a more similar genetic background among populations with common origins, i.e. the Alps. The principal component, clustering and admixture analyses showed a clear separation of the three breeds into three distinct clusters. In order to describe the distribution of CNVs within and among breeds we used the pair VST statistic, considering only the CNVRs shared to more than 5 individuals (within breed). We identified unique and highly differentiated CNVs (n = 33), some of which could be due to specific breed selection and adaptation. Genes and QTL within these regions were characterized.

Bovine tuberculosis (bTB) is a disease of cattle that represents a risk to public health and causes severe economic losses to the livestock industry. Recently, genetic studies, like genome-wide association studies (GWAS) have greatly improved the investigation of complex diseases identifying thousands of disease-associated genomic variants. Here, we present evidence of genetic variants associated with resistance to TB in Mexican dairy cattle using a case-control approach with a selective DNA pooling experimental design. A total of 154 QTLRs (quantitative trait loci regions) at 10% PFP (proportion of false positives), 42 at 5% PFP and 5 at 1% PFP have been identified, which harbored 172 annotated genes. On BTA13, five new QTLRs were identified in the MACROD2 and KIF16B genes, supporting their involvement in resistance to bTB. Six QTLRs harbor seven annotated genes that have been previously reported as involved in immune response against Mycobacterium spp: BTA (Bos taurus autosome) 1 (CD80), BTA3 (CTSS), BTA 3 (FCGR1A), BTA 23 (HFE), BTA 25 (IL21R), and BTA 29 (ANO9 and SIGIRR). We identified novel QTLRs harboring genes involved in Mycobacterium spp. immune response. This is a first screening for resistance to TB infection on Mexican dairy cattle based on a dense SNP (Single Nucleotide Polymorphism) chip.

Bovine respiratory disease (BRD) is the leading cause of morbidity and mortality in feedlot cattle, caused by multiple pathogens that become more virulent in response to stress. As clinical signs often go undetected and various preventive strategies failed, identification of genes affecting BRD is essential for selection for resistance. Selective DNA pooling (SDP) was applied in a genome wide association study (GWAS) to map BRD QTLs in Israeli Holstein male calves. Kosher scoring of lung adhesions was used to allocate 122 and 62 animals to High (Glatt Kosher) and Low (Non-Kosher) resistant groups, respectively. Genotyping was performed using the Illumina BovineHD BeadChip according to the Infinium protocol. Moving average of -logP was used to map QTLs and Log drop was used to define their boundaries (QTLRs). The combined procedure was efficient for high resolution mapping. Nineteen QTLRs distributed over 13 autosomes were found, some overlapping previous studies. The QTLRs contain polymorphic functional and expression candidate genes to affect kosher status, with putative immunological and wound healing activities. Kosher phenotyping was shown to be a reliable means to map QTLs affecting BRD morbidity.

The determination of copy number variation (CNV) is very important for the evaluation of genomic traits in several species because they are a major source for the genetic variation, influencing gene expression, phenotypic variation, adaptation and the development of diseases. The aim of this study was to obtain a CNV genome map using the Illumina Bovine SNP50 BeadChip data of 651 bulls of the Italian Brown Swiss breed. PennCNV and SVS7 (Golden Helix) software were used for the detection of the CNVs and Copy Number Variation Regions (CNVRs). A total of 5,099 and 1,289 CNVs were identified with PennCNV and SVS7 software, respectively. These were grouped at the population level into 1101 (220 losses, 774 gains, 107 complex) and 277 (185 losses, 56 gains and 36 complex) CNVR. Ten of the selected CNVR were experimentally validated with a qPCR experiment. The GO and pathway analyses were conducted and they identified genes (false discovery rate corrected) in the CNVR related to biological processes cellular component, molecular function and metabolic pathways. Among those, we found the FCGR2B, PPARα, KATNAL1, DNAJC15, PTK2, TG, STAT family, NPM1, GATA2, LMF1, ECHS1 genes, already known in literature because of their association with various traits in cattle. Although there is variability in the CNVRs detection across methods and platforms, this study allowed the identification of CNVRs in Italian Brown Swiss, overlapping those already detected in other breeds and finding additional ones, thus producing new knowledge for association studies with traits of interest in cattle.

Pangasius hypophthalmus is one of the fish consumed in the Italian diet. It is farmed and imported from Mekong delta region of Vietnam. Among several types of Pangasius, Tra (Pangasius hypophthalmus) is permitted for sales by the European Union. Since these fish species are often allegedly substituted with other morphologically similar fish due to commercial benefits, authentication of the products in the international markets become often necessary to prevent fraud and safety issues. In addition, this fish is imported as fillets without skin and bone, thus leaving the consumer’s at the risk of buying a substandard nutritional food. In this article we present the molecular approach we developed to identify Pangasius hypophthalmus from other closely related species based on cytochrome oxidase-I (COI) mitochondrial barcoding gene and further described the variants in the studied population genetic of this species. Fifty-one samples of Pangasius hypophthalmus fillets labelled as Pangasio were obtained from various markets around Milan and their COI mitochondrial barcoding gene was sequenced and studied in our bioinformatics pipeline. All samples were successfully amplified and Basic Local Alignment Search Tool results of the amplified region confirmed that all sequences analysed belonged to Pangasius hypophthalmus. Based on the variations in their barcoding region single nucleotide polymorphisms were identified and delineative statistics was calculated on the sequences. Although Pangasius hypophthalmus is considered as a monophyly, seven polymorphisms were identified. The neighbour-joining tree and the Median-joining network of haplotypes showed for all the identified haplotypes a unique cluster, with the exception of one sample.

The aim of this work was to study the feasibility of the Food and Agriculture Organization (FAO) microsatellite panel developed for chickens to assess genetic variability in turkeys. Genomic DNA was extracted from a total of 37 blood samples collected from turkey of different breeds [15 Brianzolo (BR); 12 Colli Euganei (EU); 10 Nero d’Italia (NI)], and all 31 chicken microsatellite markers recommended by the FAO were tested. The results show that 22 chicken markers out of 31 suggested by FAO guidelines can be applied to turkey populations. In particular, the multiplex groups confirmed in the turkey were the Multiplex Master Mix 1 (ADL0268, ADL0278, LEI0094, MCW0216, MCW0248) and the Master Mix 2 (MCW0034, MCW0069, MCW0081, MCW0222, MCW0295), whereas 13 microsatellites were amplified only under single polymerase chain reaction (PCR) conditions. No PCR products were obtained for 9 markers (LEI0166, MCW0020, MCW0078, MCW0080, MCW0104, MCW0123, MCW0248, MCW0284 and MCW0330), which is 29% of the total markers used. A panel of 22 markers was used to assess genetic diversity in three turkey breeds and a total number of 63 alleles were found. Observed (Ho) and expected (He) heterozygosity and polymorphism information content (PIC) values for each microsatellite and the relative mean values were also calculated. The mean values were 0.210, 0.250, 0.203 for Ho; 0.301, 0.348, 0.228 for He; and 0.265, 0.313, 0.199 for PIC in NI, BR and EU, respectively.

The aim of this study was to estimate the genetic parameters and to predict experimental breeding values (EBVs) for saturated (SFA), unsaturated (UFA), monounsaturated (MUFA) and polyunsaturated (PUFA) fatty acids, the ratio of fatty acids, and the productive traits in Italian Brown Swiss (BSW) and Holstein Friesian (HOL) cattle. Test-day yields from 235,658 HOL and 21,723 BSW cows were extracted from the Italian HOL and BSW Associations databases from November 2009 to October 2012 out of 3310 herds. The milk samples collected within the routine milk recording scheme were processed with the MilkoscanTM FT 6500 Plus (Foss, Hillerød, Denmark) for the identification of SFA, UFA, MUFA and PUFA composition in milk. Genetic parameters for fatty acids and productive traits were estimated on 1,765,552 records in HOL and 255,592 records in BSW. Heritability values estimated for SFA, UFA, MUFA and PUFA ranged from 0.06 to 0.18 for the BSW breed and from 0.10 to 0.29 for HOL. The genetic trends for the fatty acids were consistent between traits and breeds. Pearson’s and Spearman’s correlations among EBVs for SFA, UFA, MUFA and PUFA and official EBVs for fat percentage were in the range 0.32 to 0.54 for BSW and 0.44 to 0.64 for HOL. The prediction of specific EBVs for milk fatty acids and for the ratio among them may be useful to identify the best bulls to be selected with the aim to improve milk quality in terms of fat content and fatty acid ratios, achieving healthier dairy productions for consumers.

A total of more than 2,000,000 records on casein contents were collected in Lombardia (Italy) during routine milk recording of Italian Holstein and Brown Swiss dairy cows. Variance components for casein were estimated as well as all the genetic correlations of casein with production and type traits considered in selection. According to the heritabilities estimated (12.4% for Brown and 9.36% for Holstein), breeding values were calculated for bulls and compared to the breeding values for total protein. The results of two different selection scenarios were compared for each breed when including protein or casein as selection criterion. Genetic progress expected for all traits selected were compared after 10 years of selection. The genetic variability of casein allows the use of this trait as selection criterion with the estimation of breeding values and its inclusion in selection indexes. Ranking of breeding values for casein and protein are very similar in both breeds. But some differences in genetic values for casein exist for the same level of breeding value for protein. Nevertheless results in genetic gain differ between breeds depending mainly on genetic correlations with the other traits selected. The positive results in selection response estimated for several traits suggest to the Brown Swiss Association the replacement of protein selection with casein. In contrast the smaller effects estimated for the Italian Holstein suggest to wait for more casein data collected before any change in selection program.

The aim of this study is to evaluate the effects of interaction between sire of cow and service sire on the success/unsuccess of inseminations. Data from insemination events of Italian Brown Swiss cows collected from January 1993 through August 2007 were restricted to repeat breeder cows. A cluster analysis was carried out to group herds with very few observations in clusters with at least 15 observations. The edited data set included 102,710 services of 10,708 cows, daughters of 1,716 sires and mated to 3,108 service sires. The success or unsuccess at each insemination was evaluated by a linear mixed model including the fixed effects of herd-year interaction, month of insemination, age, and the random effects of sire service-sire of cow interaction and residual. The distribution of bull combination estimates was bimodal. When the tails of distribution (best and worst 5% of estimates) were considered, 271 service sires were included in both tails. Results suggest that major gene can affect the survival of embryos and that positive or negative interactions between paternal and maternal genotype can affect this reproductive trait.

With the aim to study the genetics of energy and muscle balance in the Italian Simmental breed, the objectives of this study were: i) the estimation of the genetic parameters for body condition score (BCS) and muscularity (MU) score; ii) the estimation of genetic correlations of BCS and MU with productive traits; iii) the estimation of the expected pattern of BCS and MU over lactation. A total of 47,839 records of first-parity lactating cows, collected from 1999 to 2007 in 2794 herds, were used. Two-trait animal models were analyzed using restricted maximum likelihood (REML) procedures to estimate (co)variance components. The expected patterns of BCS and MU along the lactation of first parity cows were estimated from the solutions of DIM fixed effect obtained from an univariate mixed model for both the traits. The heritability estimated was 0.18 for BCS, 0.38 for MU, and ranged from 0.13 to 0.18 for yield traits. The genetic correlations between BCS, MU and yield traits were negative (-0.17 to -0.63). The genetic correlation between BCS and MU was strongly positive (0.88), indicating that cows that genetically tend to have high BCS are more likely to have high values of MU. The genetic parameters estimated suggested that selection for BCS and MU in dual purpose breeds may be possible, and BCS may indirectly improve MU. The expected patterns for BCS and MU showed the trend of these two traits along the lactation and can help farmers in planning the best management of the lactating cows.

Over 2,000,000 records of casein contents were collected from herds of Brown Swiss (BS) and Italian Holstein Friesian (HF) dairy cows in northern Italy during routine milk recording. Variance components for casein and genetic correlations of casein with production and type traits considered in selection were estimated from a sample of 200,484 test day records for 26,279 BS cows and 376,652 for 41,543 HF cows. A multivariate multi-model REML estimation of variance components was made. Models for production included the fixed effects for herd-test day, year of evaluation, days in milk, month of calving and age at calving within parity. Models for type traits were defined accordingly to the model officially used for each breed for breeding value estimation. Breeding values for casein yield and content were calculated from estimated heritabilities (Brown 0.12; Holstein 0.09). Estimates were similar for protein and casein yield and content while genetic correlations with traits in the actual selection indexes differed between breeds. These differences, together with the greater emphasis now given to protein in the selection index of the Brown Swiss than in the Italian Holstein Friesian, suggest that a direct selection for casein could be more advantageous in Brown than in Holstein cows. The Brown breeders association could soon include casein yield and content directly in their selection criteria while that of Holstein cows would wait for a longer term casein data collection.

The aim of this study was to estimate genetic parameters for a set of new traits and to update values for production and morphological traits to be used in the selection index of Italian Brown Swiss dairy cattle. Longevity, milking speed and somatic cell scores (SCS) were considered for inclusion in the selection index, and (co)variances with all traits of the selection index were estimated. SCS was considered on a lactation basis while milk flow as the amount of milk (kg) released per time unit (minute) measured with a flowmeter. Cow functional longevity was the total herd life corrected for the production level. A total of 127,416 first lactation records of cows calving from 1985 to 2003 were considered. In order to maximize the number of records available for each combination of traits, 9 data sets were created. Estimates were obtained from multivariate linear sire models with equal design matrix in subsequent separated analysis. REML algorithms and canonical transformation were used to calculate (co)variance estimates among all traits: functional longevity, milking speed, SCS, 5 production traits (milk, fat and protein yields, fat and protein percent), and 19 type traits. Heritabilities estimated were 0.14 ± 0.02 for SCS, 0.33 ± 0.07 for milk flow, and 0.04 ± 0.01 for functional longevity. Genetic correlation values between SCS and milk yield, fat percent and protein percent resulted of 0.18 ± 0.09, -0.19 ± 0.08, and -0.22 ± 0.08 respectively. Functional longevity had a strong positive genetic correlation with udder depth (0.42 ± 0.10) while a negative correlation with rear legs set (-0.56 ± 0.10). Milk flow was positively correlated with most of the production measures: 0.30 ± 0.18 with milk yield, 0.24 ± 0.17 with fat yields 0.16 ± 0.20 with protein yield. Additionally milk flow resulted largely genetically correlated with some type traits (0.53 ± 0.14 rear udder width, 0.40 ± 0.16 hock quality, 0.32 ± 0.15 rump angle, -0.25 ± 0.19 with udder depth). The correlation between SCS and milk flow showed a value of 0.46 ± 0.26 indicating that faster cows are more susceptible to mastitis.

The aim of this study was to evaluate the allele frequency distribution at the DGAT1 p.K232A polymorphic site in seven Italian dairy and dual purpose cattle breeds. On the whole, 651 animals belonging Italian Holstein (116), Italian Brown (105), Italian Simmental (95), Valdostana Red Pied (95), Rendena (62), Reggiana (128) and Modenese (50) were genotyped by PCR-RFLP. Sequencing was carried out to confirm results of the genotyping protocol. The DGAT1 p.232K allele was identified in Italian Holstein (25.4%), Reggiana (17.2%), and with very low frequency in Italian Simmental, Valdostana Red Pied and Rendena (1%). In Italian Brown and Modenese, this allele was not detected. These results indicated that this polymorphic site can be considered for association studies only in Italian Holstein and Reggiana breeds. Deviation from Hardy-Weinberg equilibrium was observed in the Reggiana breed (P