Study of correlations between serum taurine, thyroid hormones and echocardiographic parameters of systolic function in clinically healthy Golden retrievers fed with commercial diet.

Taurine deficiency predisposes to the development of nutritional dilated cardiomyopathy and is widespread in dogs fed with non-traditional diets. However, Golden retrievers show lower plasma taurine concentration and an impaired systolic function compared to breeds of the same size and morphotype. For these reasons, it can be difficult to classify a subject from a cardiological point of view, with the risk of considering as pathological characteristics that can be completely normal in this breed. This is a cross-sectional multicenter study. The aims were 1) to identify breed-specific range of serum taurine concentration, 2) to describe a correlation between serum taurine concentration and echocardiographic parameters of systolic function in clinically healthy Golden retrievers fed with traditional diet, 3) to identify a correlation between thyroid hormones, serum taurine concentration and echocardiographic indices. Sixty clinically healthy Golden retrievers (33% males, 67% females) were included. Fifty-three dogs were fed with traditional diets and their range of serum taurine concentration was 398.2 (31.8-430) nmol/ml. Serum taurine concentration was found to be negatively correlated to systolic internal diameter of the left ventricle and systolic and diastolic left ventricular indices and volumes obtained with different methods, whereas was positively correlated to the left ventricle ejection and shortening fractions but difference was not statistically significative. A weak but significant correlation between serum taurine and T4 was demonstrated. Serum taurine median values in dogs with normal systolic function were higher than in dogs with impaired systolic function. A cut-off of serum taurine concentration of 140.6 nmol/ml had a moderate sensitivity and specificity in the identification of an impaired left ventricular systolic function (AUC 0.6, Se 78%, Sp 44%). This study showed that the median serum taurine concentration was significantly lower in dogs with impaired systolic function. Therefore, echocardiographic monitoring is recommended in all dogs with serum taurine concentration lower than 140.6 nmol/ml.

Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs.

Background: Progressive retinal atrophy (PRA) is a group of canine inherited retinal disorders affecting up to 100 breeds. Genetic tests are available. The aim of this study was to retrospectively evaluate the genetic variants associated with PRA among dogs residing in Italy. Methods: Genetic data of 20 variants associated with different forms of PRA were collected through DNA tests over a 10-year period for several dog breeds in the Italian canine population. Allelic and genotypic frequencies were calculated. Results: A total of 1467 DNA tests were conducted for 1180 dogs. Progressive rod-cone degeneration (PRCD) was the most tested form of PRA, with 58.15% (n = 853) of the DNA tests. Among the widespread breeds in Italy, Labrador retrievers and toy poodles showed a prevalence of heterozygous carriers higher than 15%. Among the others, 175 DNA tests for golden retrievers (GR) showed a prevalence of heterozygous carriers of 13.04% (n = 12) for GR-PRA1 and 8.43% (n = 7) for GR-PRA2. The zwergschnauzer breed was tested for the type B and/or the type B1 forms of PRA with 25.32% (n = 20) heterozygous carriers and 0%, respectively. Conclusion: The study offers an overview of the prevalence of PRCD and other PRA forms within some of the most popular breeds in Italy.

A study of the inter- and intra-operator variability on selected echocardiographic measurements in dogs.

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 the highest deviation from the GS and a poor inter-operator reproducibility for the M-mode measurements of the interventricular septum and the left ventricular free wall. Differently, M-mode-obtained internal diameters of the left ventricle in systole and diastole, and measurements of the aortic annulus and root show moderate to excellent intra- and inter-operator reliability and a good concordance with the GSs, demonstrating that all the operators 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.

Prospective pilot study on the predictive significance of plasma miR-30b-5p through the study of echocardiographic modifications in Cavalier King Charles Spaniels affected by different stages of myxomatous mitral valve disease: The PRIME study.

Specific microRNAs expressions may accurately characterize different stages of canine myxomatous mitral valve disease. This preliminary pilot study aimed to (1) describe the clinical and echocardiographic parameters of Cavalier King Charles Spaniels affected by myxomatous mitral valve disease at different American College of Veterinary Internal Medicine (ACVIM) stages (B1, B2 and C) and healthy control group (ACVIM A), comparing the parameters collected during the first examination (T0) and the end of the follow-up (T1); (2) assess the association between the values of echocardiographic parameters at T1 and the expression profile of miR-30b-5p at T0. Thirty-five Cavalier King Charles Spaniels (median age 4.29 years and median weight 9 Kg) in different ACVIM stages were included (7 A, 19 B1, 6 B2 and 3 C). Inverse probability weighting analysis was performed to estimate the association of the exposure variable (miR-30b-5p) with the outcome variables (clinical and echocardiographic variables). Time was included as variable. The results pointed out that high levels of plasma miR-30b-5p corresponded to lower values of left ventricular end-diastolic diameter normalized for body weight, end-diastolic and end-systolic volumes indexed for body weight, and left atrium-to aortic root ratio. Hence, higher miR-30b-5p expressions were associated with milder forms of mitral valve disease in our study population. In contrast, the results obtained for the intensity of heart murmur, the mitral regurgitation severity, and the Mitral INsufficiency Echocardiographic score) were not statistically significant. A relationship between high abundance of miR-30b-5p and myxomatous mitral valve disease that appear echocardiographically more stable over time has been demonstrated. In conclusion, Cavalier King Charles Spaniels affected by myxomatous mitral valve disease that at the first cardiologic evaluation showed an upregulation of miR-30b-5p are expected to experience lesser variations on their echocardiographic examination between T0 and T1.

Preliminary Data on Echocardiographic Evaluation and Serum Taurine Concentration in Healthy Dogs of Two Breeds (10 Golden Retrievers and 12 German Shorthaired Pointers) with Different Predispositions to Nutritional Dilated Cardiomyopathy: A Pilot Study.

Dilated cardiomyopathy (DCM) is the most common myocardial disorder in dogs, and it is primarily considered to be an inherited or genetic disease with a higher prevalence in specific breeds such as Doberman Pinschers and Great Danes. Recently, several publications have reported concerns about cases of DCM in unusual breeds (Golden Retrievers-GRs) and associated them with specific diets (grain-free, high in pulses or potatoes, or low in taurine and amino acid precursors). Because taurine is involved in the digestion and absorption of fat and liposoluble vitamins, including vitamin D, the aims of this pilot study were: (1) to compare serum taurine and serum vitamin D (both implicated in cardiac function and absorbed from food) between healthy GRs and German Shorthaired Pointers (GSPs), breeds with different predispositions to nutritional DCM; (2) to highlight the differences between the echocardiographic variables in the two breeds; and (3) to evaluate the associations between the serum taurine and vitamin D concentrations and the echocardiographic features. Ten Golden Retrievers and twelve German Shorthaired Pointers were enrolled for complete hematobiochemical analyses, cardiac examinations, and serum taurine and vitamin D evaluations. The serum taurine concentrations were significantly lower in the GR dogs than in GSPs. All GRs were clinically healthy, but some echocardiographic variables, such as the sphericity index (related to left ventricle dilatation) as well as the end-systolic volume index and fractional shortening (both related to left ventricle systolic function), were different from the published reference ranges.

Genotypic and allelic frequency of a mutation in the NHEJ1 gene associated with collie eye anomaly in dogs in Italy.

BACKGROUND: A 7.8-kb deletion in intron 4 of the NHEJ1 canine gene is associated with Collie Eye Anomaly (CEA). This deletion has been described in sheep-herding breeds related to the collie lineage and in several other dog breeds. A genetic test based on this association can distinguish three genotypes: normal, carrier and affected. The present study is a retrospective investigation of the presence of the CEA allele frequencies in selected breeds from the Italian dog population over a 10-year time span. METHODS: Genotype data, for the 7.8 kb deletion in intron 4 of the NHEJ1 gene, from 496 dogs belonging to Border collie (BC, n = 334), Shetland Sheepdog (SS, n = 74), Australian Shepherd (AS, n = 52), Nova Scotia Duck Tolling Retriever (NS, n = 20) and Rough Collie (RC, n = 16) were analysed. The genetic frequency of CEA allele was estimated in breeds with higher observations (BC, SS and AS). RESULTS: Healthy carriers were 50%, 45%, 29.6%, 17.3% and 12.5% in SS, NS, BC, AS and RC, respectively. The affected recessive homozygotes were 81.3%, 10.8% and 1.5% in RC, SS and BC, respectively. The CEA allelic frequencies were 0.36, 0.16 and 0.087 in SS, BC and AS, respectively. CONCLUSION: The results support the usefulness of this type of genetic analysis to optimize the care of dogs where the CEA mutation is present, including assessing the health risk to susceptible dogs within a breed and to provide an objective basis for breeding programmes.

Influence of Morphometry on Echocardiographic Measurements in Cavalier King Charles Spaniels: An Inverse Probability Weighting Analysis.

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.

Genetic trend of the junctional epidermolysis bullosa in the German shorthaired pointer in Italy.

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.

Epidemiological study of congenital heart diseases in dogs: Prevalence, popularity, and volatility throughout twenty years of clinical practice.

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.

Genotypic and allelic frequencies of MDR1 gene in dogs in Italy.

BACKGROUND: A mutation in the canine multidrug resistance MDR1 gene (also referred as ABCB1), encoding for the multidrug resistance (MDR) P-glycoprotein (P-gp) transponder, causes a pathological condition known as 'ivermectin toxicosis'. The causative mutation, known since 2001, has been described to affects sheep herding breeds related to collie lineage. The present study is a retrospective investigation of the presence of MDR1 mutated allele in Italian dog populations in a 5 years' time lapse. The aim of the research is to offer a deep knowledge in MDR1 allelic and genotypic frequencies in canine breeds and populations raised in Italy. METHODS: Genotype data for the 4-bp deletion (c296_299del4) in MDR1 gene from 811 dogs belonging to 32 breeds/populations were collected. RESULTS: The mutated allele has been found in 9 out of 31 breeds: Rough Collie, Smooth Collie, Border Collie, Bearded Collie, Shetland Sheepdog, Australian Shepherd, White Swiss Shepherd, Old English Sheepdog, Whippet and also in crossbreed. The breeds with the highest allelic mutation frequency are Smooth and Rough Collies with 75 per cent and 66 per cent of mutant MDR1 allele, respectively. CONCLUSIONS: The results support the usefulness of this genetic analysis to optimise medical care in dogs at risk of multidrug resistance and to create an objective basis in breeding programme definition and in the risk evaluation in different breeds.

Effects of probiotic Lactobacillus acidophilus D2/CSL (CECT 4529) on the nutritional and health status of boxer dogs.

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.

Combinatorial Discriminant Analysis Applied to RNAseq Data Reveals a Set of 10 Transcripts as Signatures of Exposure of Cattle to Mycobacterium avium subsp. paratuberculosis.

Paratuberculosis or Johne'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.

Effects of Lactobacillus acidophilus D2/CSL (CECT 4529) supplementation on healthy cat performance.

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.

Studies of modern Italian dog populations reveal multiple patterns for domestic breed evolution.

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.

Commonalities in Development of Pure Breeds and Population Isolates Revealed in the Genome of the Sardinian Fonni's Dog.

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.

Persistent right aortic arch and associated axial skeletal malformations in cats.

Persistent right aortic arch (PRAA) in cats is an uncommon vascular anomaly with clinical signs referable to oesophageal obstruction. To our knowledge no reports of axial skeletal malformations concomitant to PRAA have been reported in cats. The aim of this study is to depict a new clinical feature in cats affected by PRAA. In the study six cats with a diagnosis of vascular ring anomaly were enrolled. A complete physical examination, a neurological examination and a total body radiograph were performed on each animal. Four of the six cats showed contemporary PRAA and skeletal malformations. Additionally, for the first time, a genetic test was performed on one subject to detect DNA alterations in the homologous DiGeorge region of cat. The percentage of skeletal malformations reported in the normal population was compared with animals with PRAA and showed a higher frequency. Genetic testing failed to demonstrate a correlation between PRAA and DiGeorge genomic deletion. A review of veterinary and human diseases that presented both conditions was assessed. The few animals enrolled do not allow definitive conclusions. Further studies are required to corroborate the correlation between PRAA and axial skeletal malformations in cats.

Comparison between ultrasound and genetic testing for the early diagnosis of polycystic kidney disease in Persian and Exotic Shorthair cats.

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.

Characterization of bovine TGM1 and exclusion as candidate gene for ichthyosis in Chianina.

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.

Cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) mutations associated with the domestic cat AB blood group.

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 > aab > 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.