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Standard transthoracic echocardiography is considered the non-invasive gold standard for the diagnosis of most cardiac diseases. Defining reproducibility, repeatability, and reliability of this exam is imperative to reduce errors in clinical evaluations. The present study aimed at: 1) evaluating the reproducibility and repeatability of 15 echocardiographic parameters in dogs by analyzing measurements obtained from several operators with different levels of experience and comparing them to the ones obtained from two board-certified operators (gold standards - GSs); 2) assessing whether different formative paths have an influence on the variability of the echocardiographic measurements. Fifty-one operators have been included in this study, along with two diplomates of the European College of Veterinary Internal Medicine - Cardiology. Ten dogs were enrolled, 5 Golden Retrievers and 5 Cavalier King Charles Spaniels. Echocardiographic examination was performed on each dog by one GS and several operators on the same day. Results show that M-mode measurements of the interventricular septum and the left ventricular free wall are the least reliable ones since they show a high deviation from the GS and a poor inter-operator reproducibility. Differently, M-mode-obtained internal diameters of the left ventricle in systole and diastole, and measurements of the aortic annulus and root are the most reliable echocardiographic parameters, demonstrating that all the operators can correctly assess left ventricular systolic function and dilation, and evaluate the aortic valve. Furthermore, a specialist clinical activity, more than the acquired theoretical knowledge, affects the reliability of the echocardiographic examination by reducing the difference from the GS’ measurements.

The development and progression of myxomatous mitral valve disease (MMVD) in Cavalier King Charles Spaniels (CKCS) are difficult to predict. Thus, the identification of dogs with a morphotype associated with more severe mitral disease at a young age is desirable. The aims of this study were to: (1) describe the physical, morphometric, and echocardiographic features of class B1 MMVD-affected Cavalier King Charles Spaniels (CKCS) according to the American College of Veterinary Internal Medicine (ACVIM) guidelines; (2) evaluate the influence of morphometric physical measurements on murmur intensity, mitral valve prolapse (MVP), regurgitant jet size, and indexed mitral valve and annulus measurements. Fifty-two MMVD-affected CKCS were included in the ACVIM class B1. This is a prospective clinical cross-sectional study. Morphometric measurements, which included the body, thorax, and head sizes of each dog, were investigated to establish the association with heart murmur intensity, valvular and annular echocardiographic measurements, MVP, and regurgitant jet size, using inverse probability weighting (IPW) analyses to adjust for confounding. The IPW analyses showed that when the head length and nose length decreased, dogs had a more severe regurgitant jet size. Furthermore, subjects with a more pronounced head stop angle had thicker anterior mitral valve leaflets. A brachycephalic morphotype, as seen in dogs similar to the King Charles Spaniel breed in terms of cephalic morphology, is associated with a more severe regurgitant jet size and with valvular characteristics that are related to the most severe forms of MMVD.

Development and progression of myxomatous mitral valve disease (MMVD) in Cavalier King Charles Spaniels (CKCS) are difficult to predict. Identification at a young age of dogs with a morphotype associated with more severe mitral disease is desirable. The aims of this study were to: 1) describe the physical, morphometric, and echocardiographic features of MMVD affected Cavalier King Charles Spaniels (CKCS) in American College of Veterinary Internal Medicine (ACVIM) class B1; 2) evaluate the influence of morphometric physical measurements on murmur intensity, mitral valve prolapse (MVP), regurgitant jet size and indexed mitral valve and annulus measurements. Fifty-two MMVD affected CKCS in ACVIM class B1 were included. This is a prospective clinical cross-sectional study. Morphometric measurements, which included body, thorax, and the head sizing of each dog, have been investigated to establish the association with heart murmur intensity, valvular and annular echocardiographic measurements, MVP and regurgitant jet size using inverse probability weighting (IPW) analyses to adjust for confounding. The IPW analyses showed that when head length and nose length decreased, dogs had more severe regurgitant jet size. Furthermore, subjects with more pronounced head stop angle had thicker anterior mitral valve leaflets. A brachycephalic morphotype, with dogs more similar to King Charles Spaniel breed in cephalic morphology, is associated with a more severe regurgitant jet size and with valvular characteristics related to worse forms of MMVD.

The epidemiology of Congenital Heart Diseases (CHDs) has changed over the past twenty years. This study aimed to evaluate the prevalence of CHDs in the population of dogs recruited in a single referral center (RC); compare the epidemiological features of CHDs in screened breeds (Boxers) versus non-screened (French and English Bulldogs, German Shepherds); investigate the association of breeds with the prevalence of CHDs; determine the popularity and volatility of breeds over a 20-year period; analysed the trends of the most popular breeds in the overall population of new-born dogs registered in the Italian Kennel Club (IKC) from 1st January 1997 to 31st December 2017. The RC's cardiological database was analysed, and 1,779 clinical records were included in a retrospective observation study. Descriptive statistics and frequencies regarding the most representative breeds and CHDs were generated. A logistic regression model was used to analyse the trends of the most common CHDs found in single and in cluster of breeds. The relationship between breed popularity and presence of CHDs was studied. The most common CHDs were Pulmonic Stenosis, Patent Ductus Arteriosus, Subaortic Stenosis, Ventricular Septal Defect, Aortic Stenosis, Tricuspid Dysplasia, Atrial Septal Defect, Double Chamber Right Ventricle, Mitral Dysplasia, and others less frequent. The most represented pure breeds were Boxer, German Shepherd, French Bulldog, English Bulldog, Maltese, Newfoundland, Rottweiler, Golden Retriever, Chihuahua, and others in lower percentage. Chihuahuas, American Staffordshire Terriers, Border Collies, French Bulldogs, and Cavalier King Charles Spaniel were the most appreciated all of which showed a high value of volatility. This study found evidence for the value of the screening program implemented in Boxers; fashions and trends influence dog owners' choices more than the worries of health problems in a breed. Effective breeding programs are needed in order to control the diffusion of CHDs without impoverishing the genetic pool.

Background Epidermolysis bullosa (EB) is a hereditary heterogeneous group of mechanobullous disorders caused by mutations in several structural skin proteins observed in both humans and animals. In this work, we report the incidence and the genetic trend of the junctional epidermolysis bullosa (JEB), a major type of EB, in the Italian German Shorthaired Pointer (GSPs) population in a 10 years span. Methods In this study, we monitored the genetic trend of JEB in the Italian population of the GSPs from 2009 to 2018 in 750 animals. The studied mutation was the insertion (4818+207 ins 6.5 kb) of repetitive satellite DNA within intron 35 of the LAMA3 gene. Results Allele frequencies showed a reduction of the mutated (C) allele during the years, with the only exception of 2017, when 13 dogs were diagnosed as carrier for the genetic pathology. A regression logistic analysis was performed, including sex, coat colour and their interaction. Our results showed that there was a statistically significant association with coat colour. Conclusions The simplicity and the low cost of the analysis for the detection of this pathology suggests that a deeper identification of carrier dogs will allow better breeding strategies and management, leading to a rapid JEB eradication.

Background The aim of the present study was to investigate the effects of Lactobacillus acidophilus D2/CSL (CECT 4529) probiotic strain on nutritional status and faecal and microbiological parameters in a group of purebred boxers. Methods Forty healthy adult boxer dogs were randomly assigned to a treated (LACTO) group receiving a commercial diet supplemented with L acidophilus D2/CSL (CECT 4529) to a final concentration of 5.0 x 109 colony-forming unit/kg of food, and a control (CTR) group receiving the same diet but without the probiotic (placebo). Nutritional status (body weight, skinfold thickness, body condition score) and faecal quality parameters were analysed. Results No differences in body weight and skin thickness were found during the whole experimental period. Dogs in the LACTO group showed a significantly higher body condition score than those in the CTR group (4.86±0.55 v 4.65±0.65), and no significant differences were recorded in body weight and skinfold thickness. The LACTO group showed a significantly lower faecal moisture (in per cent) compared with the CTR group (0.67±0.007 v 0.69±0.007). Faecal hardness (in kg) was higher in the LACTO group than in the CTR group (0.86±0.047 v 0.70±0.051), and faecal score also improved in the LACTO group (3.78±0.95 v 4.25±0.91). A significant difference in total Escherichia coli counts as well as in lactobacilli counts between the CTR and LACTO groups was only detected at 28 days. Conclusion Supplementation of L acidophilus D2/CSL (CECT 4529) significantly improved the nutritional status and faecal parameters of dogs.

The epidemiology of Congenital Heart Diseases (CHDs) has changed over the past twenty years.We evaluated the prevalence of CHDs in the population of dogs recruited in a single referral center (RC); compared the epidemiological features of CHDs in screened breeds (Boxers) versus nonscreened (French and English Bulldogs and German Shepherds), investigated the association of breeds with the prevalence of CHDs, determined the popularity and volatility of breeds over a 20-year period; and analysed the trends of the most popular breeds in the overall population of new-born dogs registered in the Italian Kennel Club from 1st January 1997 to 31st December 2017.This was a retrospective observational study, the cardiological database of the RC was analysed, and 1,779 clinical records fulfilled the inclusion criteria.Descriptive statistics and frequencies regarding the most representative breeds and CHDs were generated. A logistic regression model was used to analyse the trends of the most common CHDs found in single breeds (French Bulldog, English Bulldog, Boxer, and German Shepherd), and in groups of breeds (brachycephalic breeds and the most represented large breeds). The relationships between the breed popularity and the presence of CHDs was studied.The most common CHDs were Pulmonic Stenosis (34,1%), Patent Ductus Arteriosus (26,4%), Subaortic Stenosis (14,6%), Ventricular Septal Defect (4,8%), Aortic Stenosis (4,7%), Tricuspid Dysplasia (3,4%), Atrial Septal Defect (1,9%), Double Chamber Right ventricle (1,8%), Mitral Dysplasia (1,6%), and reverse Patent Ductus Arteriosus (0,7%). The most represented pure breeds were Boxer (19,4%), German Shepherd (9,4%), French Bulldog (6,2%), English Bulldog (4,9%), Maltese (3,7%), Newfoundland (3,1%), Rottweiler (3,1%), Golden Retriever (3,0%), Chihuahua (2,8%), Poodle (2,5%), Cavalier King Charles Spaniel (2,2%), American Staffordshire Terrier (2,1%), Labrador Retriever (2,3%), Dobermann (2,1%), Miniature Pinscher (2,0%), Cocker Spaniel (2,0%), Yorkshire Terrier (1,7%), Dogue de Bordeaux (1,6%), Dachshund (1,6%), and Bull Terrier (1,5%). Chihuahuas, American Staffordshire Terriers, Border Collies, French Bulldogs, and Cavalier King Charles Spaniel were the most appreciated small and medium breeds, all of which showed a high value of volatility.In conclusion, this study found evidence for the value of the screening program implemented in Boxers, which decreased the prevalence of Subaortic Stenosis and Pulmonic Stenosis. However, fashions and trends influence dog owners’ choices more than the worries of health problems frequently found in a breed. Effective breeding programs are needed in order to control the diffusion of CHDs without impoverishing the genetic pool; in addition, dog owners should be educated, and the breeders supported by a network of veterinary cardiology centers.

Paratuberculosis or Johne&rsquo, s disease in cattle is a chronic granulomatous gastroenteritis caused by infection with Mycobacterium avium subspecies paratuberculosis (MAP). Paratuberculosis is not treatable, therefore, the early identification and isolation of infected animals is a key point to reduce its incidence. In this paper, we analyse RNAseq experimental data of 5 ELISA-negative cattle exposed to MAP in a positive herd, compared to 5 negative-unexposed controls. The purpose was to find a small set of differentially expressed genes able to discriminate between exposed animals in a preclinical phase from non-exposed controls. Our results identified 10 transcripts that differentiate between ELISA-negative, clinically healthy, and exposed animals belonging to paratuberculosis-positive herds and negative-unexposed animals. Of the 10 transcripts, five (TRPV4, RIC8B, IL5RA, ERF, CDC40) showed significant differential expression between the three groups while the remaining 5 (RDM1, EPHX1, STAU1, TLE1, ASB8) did not show a significant difference in at least one of the pairwise comparisons. When tested in a larger cohort, these findings may contribute to the development of a new diagnostic test for paratuberculosis based on a gene expression signature. Such a diagnostic tool could allow early interventions to reduce the risk of the infection spreading.

Through thousands of years of breeding and strong human selection, the dog (Canis lupus familiaris) exists today within hundreds of closed populations throughout the world, each with defined phenotypes. A singular geographic region with broad diversity in dog breeds presents an interesting opportunity to observe potential mechanisms of breed formation. Italy claims 14 internationally recognized dog breeds, with numerous additional local varieties. To determine the relationship among Italian dog populations, we integrated genetic data from 263 dogs representing 23 closed dog populations from Italy, seven Apennine gray wolves, and an established dataset of 161 globally recognized dog breeds, applying multiple genetic methods to characterize the modes by which breeds are formed within a single geographic region. Our consideration of each of five genetic analyses reveals a series of development events that mirror historical modes of breed formation, but with variations unique to the codevelopment of early dog and human populations. Using 142,840 genome‐wide SNPs and a dataset of 1,609 canines, representing 182 breeds and 16 wild canids, we identified breed development routes for the Italian breeds that included divergence from common populations for a specific purpose, admixture of regional stock with that from other regions, and isolated selection of local stock with specific attributes.

Livestock guarding dogs are a valuable adjunct to the pastoral community. Having been traditionally selected for their working ability, they fulfil their function with minimal interaction or command from their human owners. In this study, the population structure and the genetic differentiation of three Italian livestock guardian breeds (Sila's Dog, Maremma and Abruzzese Sheepdog and Mannara's Dog) and three functionally and physically similar breeds (Cane Corso, Central Asian Shepherd Dog and Caucasian Shepherd Dog), totalling 179 dogs unrelated at the second generation, were investigated with 18 autosomal microsatellite markers. Values for the number of alleles per locus, observed and expected heterozygosity, Hardy-Weinberg Equilibrium, F stats, Nei's and Reynold's genetic distances, clustering and sub-population formation abilities and individual genetic structures were calculated. Our results show clear breed differentiation, whereby all the considered breeds show reasonable genetic variability despite small population sizes and variable selection schemes. These results provide meaningful data to stakeholders in specific breed and environmental conservation programmes.

The island inhabitants of Sardinia have long been a focus for studies of complex human traits due to their unique ancestral background and population isolation reflecting geographic and cultural restriction. Population isolates share decreased genomic diversity, increased linkage disequilibrium, and increased inbreeding coefficients. In many regions, dogs and humans have been exposed to the same natural and artificial forces of environment, growth, and migration. Distinct dog breeds have arisen through human-driven selection of characteristics to meet an ideal standard of appearance and function. The Fonni’s Dog, an endemic dog population on Sardinia, has not been subjected to an intensive system of artificial selection, but rather has developed alongside the human population of Sardinia, influenced by geographic isolation and unregulated selection based on its environmental adaptation and aptitude for owner-desired behaviors. Through analysis of 28 dog breeds, represented with whole-genome sequences from 13 dogs and ∼170,000 genome-wide single nucleotide variants from 155 dogs, we have produced a genomic illustration of the Fonni’s Dog. Genomic patterns confirm within-breed similarity, while population and demographic analyses provide spatial identity of Fonni’s Dog to other Mediterranean breeds. Investigation of admixture and fixation indices reveals insights into the involvement of Fonni’s Dogs in breed development throughout the Mediterranean. We describe how characteristics of population isolates are reflected in dog breeds that have undergone artificial selection, and are mirrored in the Fonni’s Dog through traditional isolating factors that affect human populations. Lastly, we show that the genetic history of Fonni’s Dog parallels demographic events in local human populations.

Background The present study aimed to evaluate the effects of the probiotic strain Lactobacillus acidophilus D2/CSL (CECT 4529) on nutritional condition and faecal quality in cats. Methods Ten healthy adult cats from the same cattery were included (aged >9 months; male:female sex ratio=3:7). The animals were randomly assigned to a control group (CTR; n=5; male:female=1:4; room 1: 16 m2) and to a treated group (LACTO; n=5; male:female=2:3; room 2: 16 m2) receiving the same commercial dry diet. The LACTO group diet was supplemented with the probiotic (5 x 109 cfu/kg feed at least). A five-week experimental period was applied, and nutritional status was monitored by bodyweight (BW) and body condition score (BCS). Faecal quality was evaluated using faecal score (FS) and faecal moisture (FM) parameters. Plate counts of some faecal bacteria species were carried out. The data obtained were analysed using MIXED, GLM and NPAR1WAY procedures (SAS V.9.4; P≤0.05). Results The two groups did not show differences in BW and BCS data. A clear effect of the probiotic supplementation on FM was recorded (LACTO 44 per cent v CTR group 46 per cent; P=0.04). FS in the LACTO group (3.35) was close to ideal values (2–3) in comparison with the CTR group (3.75). Positive effects of L acidophilus D2/CSL have been recorded in terms of increase in faecal lactobacilli counts and reduction in faecal coli counts. Conclusions This study’s preliminary results describe how inclusion of L acidophilus D2/CSL (CECT 4529) probiotic strain in cats’ diets could effectively improve faecal quality parameters and consequently gut health in adult healthy cats.

Background The aim of the present study was to investigate the effects of Lactobacillus acidophilus D2/CSL (CECT 4529) probiotic strain on nutritional status and faecal and microbiological parameters in a group of purebred boxers. Methods Forty healthy adult boxer dogs were randomly assigned to a treated (LACTO) group receiving a commercial diet supplemented with L acidophilus D2/CSL (CECT 4529) to a final concentration of 5.0 x 109 colony-forming unit/kg of food, and a control (CTR) group receiving the same diet but without the probiotic (placebo). Nutritional status (body weight, skinfold thickness, body condition score) and faecal quality parameters were analysed. Results No differences in body weight and skin thickness were found during the whole experimental period. Dogs in the LACTO group showed a significantly higher body condition score than those in the CTR group (4.86±0.55 v 4.65±0.65), and no significant differences were recorded in body weight and skinfold thickness. The LACTO group showed a significantly lower faecal moisture (in per cent) compared with the CTR group (0.67±0.007 v 0.69±0.007). Faecal hardness (in kg) was higher in the LACTO group than in the CTR group (0.86±0.047 v 0.70±0.051), and faecal score also improved in the LACTO group (3.78±0.95 v 4.25±0.91). A significant difference in total Escherichia coli counts as well as in lactobacilli counts between the CTR and LACTO groups was only detected at 28 days. Conclusion Supplementation of L acidophilus D2/CSL (CECT 4529) significantly improved the nutritional status and faecal parameters of dogs.

Background The present study aimed to evaluate the effects of the probiotic strain Lactobacillusacidophilus D2/CSL (CECT 4529) on nutritional condition and faecal quality in cats. Methods Ten healthy adult cats from the same cattery were included (aged >9 months; male:female sex ratio=3:7). The animals were randomly assigned to a control group (CTR; n=5; male:female=1:4; room 1: 16 m2) and to a treated group (LACTO; n=5; male:female=2:3; room 2: 16 m2) receiving the same commercial dry diet. The LACTO group diet was supplemented with the probiotic (5 x 109 cfu/kg feed at least). A five-week experimental period was applied, and nutritional status was monitored by bodyweight (BW) and body condition score (BCS). Faecal quality was evaluated using faecal score (FS) and faecal moisture (FM) parameters. Plate counts of some faecal bacteria species were carried out. The data obtained were analysed using MIXED, GLM and NPAR1WAY procedures (SAS V.9.4; P≤0.05). Results The two groups did not show differences in BW and BCS data. A clear effect of the probiotic supplementation on FM was recorded (LACTO 44 per cent v CTR group 46 per cent; P=0.04). FS in the LACTO group (3.35) was close to ideal values (2–3) in comparison with the CTR group (3.75). Positive effects of Lacidophilus D2/CSL have been recorded in terms of increase in faecal lactobacilli counts and reduction in faecal coli counts. Conclusions This study’s preliminary results describe how inclusion of Lacidophilus D2/CSL (CECT 4529) probiotic strain in cats’ diets could effectively improve faecal quality parameters and consequently gut health in adult healthy cats.

Three fowl breeds, Valdarnese Bianca, a traditional white feathered breed from Tuscany, Golden Comet® a commercial hybrid and Livornese Bianca, a white leghorn type, were genotyped at eight microsatellite loci. A total of 74 alleles were detected with locus ADL181 recorded the lowest (six alleles) and locus ADL136 the highest (15 alleles) allele frequencies respectively. Heterozygosity values ranged from 0.210 (locus ADL210) to 0.742 (locus ADL176). The Wright's fixation index values were 0.089 (FST), 0.300 (FIs) and 0.363 (FIT). Factorial correspondence analysis and a dendrogram individual tree constructed using individual genetic distances showed genetic differentiation of the three breeds.

Summary In order to investigate the relationships between Italian wild boar and major pig breeds, we studied the genetic variability of four wild boar populations in Italy (Arezzo, Pisa, Parma, Bergamo) using a 533-bp fragment of the mitochondrial control region. Sixty-nine wild boar samples were analysed, allowing the identification of 10 distinct haplotypes, which involve a total of 15 single nucleotide polymorphisms. Phylogenetic and network analyses were performed also considering several sequences of wild and domesticated forms available in the databases. The Bayesian phylogenetic tree and the Median-Joining network analyses show three main groups: the Italian (IT), European (EU) and Asian (AS) clades. The IT clade corresponds to the Maremma endemic wild boar population and also includes Sardinian individuals, while the EU and AS groups include wild boars as well as domestic pig breeds. Only two individuals from Pisa cluster in the IT group, whereas two haplotypes from Bergamo cluster in the AS group and all other samples cluster in the EU clade. These findings suggest that in Italy wild boar populations have a mixed origin, both EU and AS, and that an interbreeding between wild and domesticated strains has probably occurred. Eight of the 10 wild boars coming from the Migliarino-San RossoreMassaciuccoli Regional Park (Pisa) belong to H2 and H3 haplotypes, and cluster into the EU clade, suggesting that this regional park is not anymore exclusive of the endemic Maremma wild boar.

Very little research into genetic diversity of Italian native dog breeds has been carried out so far. In this study we aimed to estimate and compare the genetic diversity of four native Italian shepherd dog breeds: the Maremma, Bergamasco, Lupino del Gigante and Oropa shepherds. Therefore, some cosmopolitan dog breeds, which have been widely raised in Italy for a long time past, have also been considered to check possible influence of these dog populations on the Italian autochthonous breeds considered here. A total of 212 individuals, belonging to 10 different dog breeds, were sampled and genotyped using 18 autosomal microsatellite loci. We analyzed the genetic diversity of these breeds, within breed diversity, breed relationship and population structure. The 10 breeds considered in this study were clearly genetically differentiated from each other, regardless of current population sizes and the onset of separate breeding history. The level of genetic diversity explained 20% of the total genetic variation. The level of H E found here is in agreement with that found by other studies. The native Italian breeds showed generally higher genetic diversity compared with the long established, well-defined cosmopolitan dog breeds. As the Border Collie seems closer to the Italian breeds than the other cosmopolitan shepherd dogs considered here, a possible utilization of this breed to improve working performance in Italian traditional working shepherd dogs cannot be ignored. The data and information found here can be utilized in the organization of conservation programs planned to reduce inbreeding and to minimize loss of genetic variability.

Seven autochthonous Italian cattle breeds bred in the alpine area (Aosta Black Pied, Aosta Red Pied, Aosta Chestnut, Oropa Red Pied, Grey Alpine, Rendena and Burlina) were investigated in order to characterise their genetic structure and to study their phylogenetic origin. Two cattle breeds from Germany (Original German Brown and Holstein) and four from Switzerland (Simmental, Herens, Evolene and Brown Swiss) were included in the study in order to determine the genetic diversity existing among Italian local breeds, similar breeds bred on the other side of the Alps and in the well known Holstein. Seventeen microsatellites, of the internationally accepted panel for the study of cattle biodiversity, were used for the analysis. Microsatellites were highly polymorphic with a mean number of 5,5 alleles (ranging from 2 to 12 per locus). For each locus, allelic frequencies, heterozygosity (H) and the Polymorphism Information Content (PIC) were computed. The genetic equilibrium according to Hardy–Weinberg was calculated for each population and for each locus. Allele frequencies were used to estimate genetic distances and to draw a phylogenetic tree. The two closest breeds were Aosta Red Pied and Aosta Black Pied, while the two genetically most different were Holstein and Aosta Chestnut. Aosta valley breeds, Evolene and Herens constituted a tight cluster in the phylogenetic consensus tree. Principal component analysis showed a similar pattern for all the alpine breeds, while Holstein and Original German Brown were far away. The genetic differences among breeds were in accordance with their geographical and historical origins. Die genetische Diversitat von Rinderrassen der Alpenregion Sieben autotochthone italienische Rinderrassen der Alpenregion (Aosta Black Pied, Aosta Red Pied, Aosta Chestnut, Oropa Red Pied, Grey Alpine, Rendena und Burlina) wurden untersucht, um ihre genetische Struktur und ihren phylogenetischen Ursprung zu beschreiben. In die Studie wurden zwei deutsche Rinderrassen (Original Deutsches Braunvieh und Deutsche Holsteins) und vier Rassen der Schweiz (Simmentaler, Herens, Evolene und Brown Swiss) einbezogen, um deren genetische Diversitat mit den ahnlichen italienischen Rassen auf der anderen Seite der Alpen zu vergleichen. Siebzehn Mikrosatelliten eines international anerkannten Panels fur die Untersuchung genetischer Distanzen zwischen Rinderrassen wurden in dieser Studie genutzt. Die Mikrosatelliten waren hochpolymorph mit einer durchschnittlichen Anzahl von 5,5 Allelen und einem Spektrum von 2 bis 12 Allelen pro Locus. Fur die einzelnen Loci wurden Allelfrequenzen, der Heterozygotiegrad (H) und der Polymorphism Information Content (PIC) berechnet. Die Berechnung des genetischen Gleichgewichts nach Hardy–Weinberg erfolgte fur die Populationen und die Loci. Die Allelfrequenzen wurden zur Schatzung der genetischen Distanzen und zur Zeichnung eines phylogenetischen Baums genutzt. Die Rassen Aosta Red Pied and Aosta Black Pied waren am engsten verwandt, wahrend die Rassen Deutsche Holsteins und Aosta Chestnut am unterschiedlichsten waren. Die Rassen Evolene und Herens des Aosta-Tals bildeten ein enges Cluster im phylogenetischen Konsensus-Baum. Die Hauptkomponenten-Analyse zeigte ein ahnliches Bild fur alle Rassen der Alpenregion, wahrend Deutschen Holsteins und das Original Deutsche Braunvieh einen grosen Abstand zu den anderen Rassen aufwiesen. Die genetischen Differenzen zwischen den Rassen waren in Ubereinstimmung mit ihrem geographischen und historischen Ursprung.

Ichthyosis is a heterogeneous group of keratinization disorders reported both in human and animals. Two rare, inherited forms have been reported in cattle, both characterized by autosomal recessive transmission. Because mutations of transglutaminase 1 (TGM1) gene are associated with autosomal recessive ichthyosis in people, this gene was investigated as a candidate for the diseases in cattle. Three different polymorphisms were identified in 5' end region of cattle TGM1. Marker homozygosity was not found among affected calves. Linkage analysis excluded (logarithmic odds [LOD] score -2.0) TGM1 as the cause for ichthyosis phenotype in the analyzed Chianina cases.

This work aimed to confirm previously reported quantitative trait loci (QTL) affecting the somatic cell score (SCS) in dairy cattle on Bos taurus autosomes (BTA) 4 and 26. A granddaughter design with selective genotyping was implemented that included half-sib families from 12 male lines of Italian Holstein cattle. The animals were genotyped for 5 microsatellite markers each on regions of BTA 4 (average marker spacing 9.42 cM) and BTA 26 (average marker spacing 5.26 cM), previously reported by other authors as carrying QTL for somatic cell count. Quantitative trait loci analyses were performed using interval mapping by regressing sire breeding values for SCS onto genotype probabilities at 1-cM intervals along the 2 chromosome regions. Breeding values for SCS were estimated for the whole population using a test-day repeatability animal model. Results were not significant on a chromosome basis, but a possible QTL was found at BM4505 on BTA 26, confirming this region for further studies of QTL affecting SCS in the Italian Holstein population.

BACKGROUND: Two mutations in the MYBPC3 gene have been identified in Maine Coon (MCO) and Ragdoll (RD) cats with hypertrophic cardiomyopathy (HCM). OBJECTIVE: This study examined the frequency of these mutations and of the A74T polymorphism to describe their worldwide distribution and correlation with echocardiography. ANIMALS: 1855 cats representing 28 breeds and random-bred cats worldwide, of which 446 underwent echocardiographic examination. METHODS: This is a prospective cross-sectional study. Polymorphisms were genotyped by Illumina VeraCode GoldenGate or by direct sequencing. The disease status was defined by echocardiography according to established guidelines. Odds ratios for the joint probability of having HCM and the alleles were calculated by meta-analysis. Functional analysis was simulated. RESULTS: The MYBPC3 A31P and R820W were restricted to MCO and RD, respectively. Both purebred and random-bred cats had HCM and the incidence increased with age. The A74T polymorphism was not associated with any phenotype. HCM was most prevalent in MCO homozygote for the A31P mutation and the penetrance increased with age. The penetrance of the heterozygote genotype was lower (0.08) compared with the P/P genotype (0.58) in MCO. CONCLUSIONS AND CLINICAL IMPORTANCE: A31P mutation occurs frequently in MCO cats. The high incidence of HCM in homozygotes for the mutation supports the causal nature of the A31P mutation. Penetrance is incomplete for heterozygotes at A31P locus, at least at a young age. The A74T variant does not appear to be correlated with HCM.

ummary From a sample of 119 Friesian calves, serologically typed for BoLA class I, 47 subjects were chosen expressing 9 different MHC types (A6, A6.9, A10, A11, A14, A15, A30, W16, M103) with the same age and reared in the same farm conditions. The animals were s.c. injected with a water in oil suspension of killed M. bovis and the treatment was repeated two days later. Before the treatment and 21 days later, calves were bled and on PBM (peripheral blood mononuclear leucocytes) were performed the following tests: 1. Lymphocyte Stimulation with bovine and avian PPDs (Purified protein derivative of Mycobacterium bovis and Mycobacterium avium, respectively). 2. Phagocytic activity towards M. bovis. 3. Class II molecules expression on cell surface. 4. Percentage of leucocyte populations and subpopulations. In the in vitro Lymphocyte Stimulation test, all the animals and classes were responders. Animals bearing A10 BoLA class I presented c.p.m. (counts per minute) and index values higher than the other cattle; these values were significantly positively related both to bovine and avian PPDs (P < .01). By variance analysis A14 BoLA type showed a slight positive significant correlation with more efficient phagocytic activity. BoLA class I type did not seem to significantly affect percentage of class II positive cells and leucocyte percentages on PBM. Zusammenfassung Der BoLA Klasse I Polymorphismus und in vitro immunologische Antwort gegen die Antigene von M. bovis Aus einer Stichprobe von 119 fur BoLA Klasse I serologisch typisierten Friesian Kalber, wurden 47 Subjekte ausgewahlt, die 9 verschiedene MHC Typen ausdruckten (A6, A6.9, A10, A11, A14, A15, A30, W16, M103). Alle waren gleich alt und in gleichen Haltungsbedingungen. Die Tiere wurden mit einer Wasser-in-Ol Suspension abgetoteter M. bovis subkutan injiziert und die Behandlung nach zwei Tagen wiederholt. Vor und 21 Tage nach Behandlung wurden die folgenden Tests ausgefuhrt: 1. Lymphozyten-Stimulationstest mit bovinen und Geflugel PPDs. 2. Phagozyten Aktivitat gegen M. bovis. 3. Zeil-Oberflachen, Expression der Klasse II Molekule. 4. Anteile der Lymphozyten Populationen und Subpopulationen. Im in vitro Lymphozyten-Stimulationstest waren alle Tiere und Klassen responder. Tiere mit A10 BoLA I zeigten hohere c.p.m. und Indexwerte als die anderen; diese Werte waren in signifikant positiver Beziehung mit der PPD von M. bovis und auch mit M. avium (P < .01). BoLA Typ A14 zeigte leicht signifikant positive Korrelation mit wirksamerer Phagozyten Aktivitat. BoLA Klasse I Typ scheint nicht den Prozentsatz der positiven Zellen der Klasse II und der Leukozyten der PBM signifikant zu beeinflussen. Resumen Polimorfismo de BoLA clase I y immunidad a los antigenos del M. bovis Se escojeron 47 novillos dentro de un grupo de 119 animales que segun analisis previamente hecha tenian BoLA de clase I. Estos 47 novillos fueron escojidos de manera que tuvieran 9 distintos tipos de MHC (A6, A6.9, A10, A11, A14, A15, A30, W16, M103), la misma edad, las mismas condiciones de cria. Estos animales fueron inoculados subcutaneo con M. bovis matados en una suspension oleosa y la misma inoculacion fue repetida una secunda vez despues de dos dias. Por cada animal se tomaron muestras de sangre antes y 21 dias despues de la inoculacion de arriba. Las muestras de sangre fueron pruebaoas con: 1. Stimulacion Lymhocitaria con PPD bovina y avicola. 2. Actividad phagocitaria a M. bovis. 3. Expresion sobre la superficie celular de moleculas de clase II. 4. Porcentaje de poblaciones y de subpob-laciones de leucocitos. Todos los animales y todos los tipos de MHC dieron respuestas positivas en las pruebas de Stimulacion Lymphocitaria. Los animales que tenian la BoLA A10 presentaron valores de c.p.m. y indices mas altos de los demas animales. Estos valores se encontraron significativamente y positivamente relacionados sea a la PPD bovina que a la PPD avicola. Por medio de la analisis de varianzas se encontro que el tipo BoLA A14 muestraba una correlacion significativa y algo positiva con una mejor actividad fagocitaria. Los tipos de clase BoLA I no parecieron que influenzaran de manera appreciable el porcentaje de positividad por la clase II y el porcentaje de leucocitos en la sangre PBM.

Autosomal-dominant polycystic kidney disease (AD-PKD) is common in Persians and Persians-related breeds. The aims of this study were to evaluate the sensitivity and specificity of early ultrasound examination and to compare ultrasound and genetic testing for early diagnosis. Sixty-three Persians and seven Exotic Shorthairs were considered. All underwent ultrasonographic and genetic testing (polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) assay) between 2.5 and 3.5 months of age (10–14 weeks). With ultrasound, 41.4% showed renal cysts, while 37.1% were PKD positive by genetic testing and DNA sequencing. Six cats with at least one renal cyst were negative by genetic testing, while only one cat negative at ultrasound resulted positive at genetic test. DNA sequencing of three polycystic cats, negative by genetic test, revealed they were heterozygous for the mutation. Agreement was described by Cohen's kappa that resulted 0.85, considering genetic test and DNA sequencing. Sensitivity and specificity of ultrasound were 96.2% and 91%, respectively. Sensitivity was higher and specificity lower than reported previously. The higher sensitivity could be due to improved technical capabilities of ultrasound machines and transducers. Other causes of PKD could explain the lower specificity. In conclusion, ultrasound resulted in a reliable diagnostic method for feline AD-PKD1 at early age and it should always be used with genetic testing, in order to reach a complete screening programme and eventually to identify other genetic mutations.

Made available in DSpace on 2016-10-10T03:52:47Z (GMT). No. of bitstreams: 5 An international parentage and identification panel for the domestic cat Felis catus.pdf: 509557 bytes, checksum: e4cd9a3f2e792036d13d81fa70d95dbf (MD5) license_url: 52 bytes, checksum: 3d480ae6c91e310daba2020f8787d6f9 (MD5) license_text: 23851 bytes, checksum: 294cb7010cc40c47642971e073de3dba (MD5) license_rdf: 23892 bytes, checksum: afd5dad10b1d1e6dc10c8c5d25222c7a (MD5) license.txt: 1887 bytes, checksum: 445d1980f282ec865917de35a4c622f6 (MD5) Previous issue date: 2007 Seventeen commercial and research laboratories participated in two comparison tests under the auspices of the International Society for Animal Genetics to develop an internationally tested, microsatellite-based parentage and identification panel for the domestic cat (Felis catus). Genetic marker selection was based on the polymorphism information content and allele ranges from seven random-bred populations (n ¼ 261) from the USA, Europe and Brazil and eight breeds (n ¼ 200) from the USA. Nineteen microsatellite markers were included in the comparison test and genotyped across the samples. Based on robustness and efficiency, nine autosomal microsatellite markers were ultimately selected as a single multiplex core panel for cat identification and parentage testing. Most markers contained dinucleotide repeats. In addition to the autosomal markers, the panel included two genderspecific markers, amelogenin and zinc-finger XY, which produced genotypes for both the X and Y chromosomes. This international cat parentage and identification panel has a power of exclusion comparable to panels used in other species, ranging from 90.08% to 99.79% across breeds and 99.47% to 99.87% in random-bred cat populations. Publicado

Background The cat has one common blood group with two major serotypes, blood type A that is dominant to type B. A rare type AB may also be allelic and is suspected to be recessive to A and dominant to B. Cat blood type antigens are defined, N-glycolylneuraminic acid (NeuGc) is associated with type A and N-acetylneuraminic acid (NeuAc) with type B. The enzyme cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) determines the sugar bound to the red cell by converting NeuAc to NeuGc. Thus, mutations in CMAH may cause the A and B blood types. Results Genomic sequence of CMAH from eight cats and the cDNA of four cats representing all blood types were analyzed to identify causative mutations. DNA variants consistent with the blood types were genotyped in over 200 cats. Five SNPs and an indel formed haplotypes that were consistent with each blood type. Conclusion Mutations in type B cats likely disrupt the gene function of CMAH, leading to a predominance of NeuAc. Type AB concordant variants were not identified, however, cDNA species suggest an alternative allele that activates a downstream start site, leading to a CMAH protein that would be altered at the 5' region. The cat AB blood group system is proposed to be designated by three alleles, A > a ab > b. The A and b CMAH alleles described herein can distinguish type A and type B cats without blood sample collections. CMAH represents the first blood group gene identified outside of non-human primates and humans.

The oral mucosae of the lips and muzzle appeared histologically normal. Mitotic chromosomes were visualised with conventional staining and RBA-banding from non-synchronised cultures of peripheral blood lymphocytes of the affected calves and their relatives (De Grouchy and others 1964, Dutrillaux and others 1973). No abnormality was detected in either the structure or the number of chromosomes. Genealogical data from the Chianina Breed Stud Book, from the Associazione Nazionale Allevatori Bovini Italiani da Carne (ANABIC), were collected to analyse the pedigrees of the two affected animals and of nine other newborn Chianina calves showing the same condition (Fig 3). Wherever possible, blood samples were collected from the affected animals and their sires, dams and siblings. Parentage relationships were verified by microsatellite analysis with StockMarks for Cattle Paternity PCR typing kits (Applied Biosystems). Forty-nine animals of the familial group were evaluated. Analysis of the pedigree information revealed that all clinical cases were generated by consanguineous matings. In particular, three bulls were acknowledged as being disease carriers: bulls 23, 30 and 34 (Fig 3). Bull 23 sired three affected male calves (26, 28 and 48) and two healthy female calves (31 and 35); bull 30 sired two affected male calves (27 and 49) and two healthy calves, one male (34) and one female (46); and bull 34 sired six affected calves, four males (38, 40, 41 and 47) and two females (43 and 44) and four healthy calves, three males (37, 42 and 45) and one female (39). None of the carIchthyosis in Chianina cattle

EPIDERMOLYSIS bullosa (EB) is a genetic disease involving the skin and mucous membranes in human beings, horses, cattle, sheep, cats and dogs ([Bruckner-Tuderman and others 1991][1], [Olivry and others 1999][2], [Jiang and Uitto 2005][3], [Magnol and others 2005][4], [Fine and others 2008][5], [

The Border Collie is an officially recognised dog breed world wide spread used for sheep herding. This breed is part of the 1st group of the FCI official classification: “Sheepdogs and Cattle Dog (...