Genetic association between NOD2 polymorphism and infection status by Mycobacterium avium ssp. paratuberculosis in German Holstein cattle.

The aim of the study was the analysis of the nucleotide-binding oligomerization domain containing 2 (NOD2, formerly CARD15) as a candidate gene for Mycobacterium avium ssp. paratuberculosis infection in cattle. Eleven SNPs in the NOD2 gene were identified, and finally, four SNPs were included in a case-control study using 324 German Holstein cows tested for paratuberculosis using fecal culture and ELISA. The SNP (GenBank) AY518738S04:g.521G>A in exon 4 showed a significant association between the fecal culture status of the animals and NOD2 allele variants. The other three SNPs showed no associations in German Holstein cows.

CYLD mutations in familial skin appendage tumours.

BACKGROUND: Germ-line mutations in CYLD are found in patients with familial skin appendage tumours. The protein product functions as a deubiquitinase enzyme, which negatively regulates NF-kappaB and c-Jun N-terminal kinase signalling. Brooke-Spiegler syndrome (BSS) is characterised by cylindromas, trichoepitheliomas and spiradenomas, whereas in familial cylindromatosis (FC) patients present with cylindromas and in multiple familial trichoepitheliomas (MFT) with trichoepitheliomas as the only skin tumour type. Although described as distinct entities, recent studies suggest that they are within the spectrum of a single entity. OBJECTIVE: To investigate the mutation spectrum of CYLD and possible genotype-phenotype correlations. METHODS: 25 families including 13 BSS, 3 FC, and 9 MFT families were examined and evaluated for mutations in the CYLD gene. RESULTS: In total, 18 mutations in CYLD, including 6 novel mutations, were identified in 25 probands (72%). The mutation frequencies among distinct phenotypes were 85% for BSS, 100% for FC, and 44% for MFT. The majority of the mutations were insertions, deletions or nonsense mutations leading to formation of truncated proteins. All mutations were located between exons 9 to 20, encoding the NEMO binding site and the catalytic domain. Genotype-phenotype analysis failed to reveal a correlation between the types of mutations and their location within the gene and the patients' phenotypes and disease severity. CONCLUSIONS: This study provides further evidence on the role of CYLD in the pathogenesis of skin appendage tumours characterised by cylindromas, trichoepitheliomas and/or spiradenomas, but the molecular mechanisms of CYLD in skin tumorigenesis and the reasons for phenotypic variability remain to be explored.

Malformations of the index nails.

We report a 52-year-old woman with micronychia of the index fingers. Radiographic examination revealed a Y-shaped bifurcation of the distal phalanx of both index fingers. She was diagnosed with congenital onychodysplasia of the index fingers (COIF) or Iso-Kikuchi syndrome. COIF is a rare condition characterized by a variety of nail dysplasia of the index fingers. Five criteria characterize COIF: congenital occurrence, unilateral or bilateral index finger involvement, variability in nail appearance, hereditary involvement and frequently associated bone abnormalities. Micronychia, polyonychia, anonychia, hemionychrogryphosis and malalignment are the observed index finger defects. Most cases have been described in Japan, and to our knowledge, this is the first case of COIF reported in South America.

Genetic and environmental factors influencing tooth and jaw malformations in rabbits.

Tooth alterations of 281 rabbits from 10 different breeds were evaluated, starting at the age of three weeks until they were fully grown. All rabbits were kept in an outdoor facility, fed with a pelleted diet and had free access to water and hay. The most common finding in 3182 clinical examinations was a gap between the mandibular incisors (38 per cent). Skull X-rays from 4 adult breeding rabbits, 15 offspring with clinical signs of dental disease and 12 clinically healthy siblings were assessed by two different methods using cephalometric distances and anatomical reference lines. Repeatabilities of cephalometric distances were mostly low and no significant associations to tooth health were found. The anatomical reference lines revealed dental findings even in rabbits that were graded as tooth healthy in previous clinical examinations. On the basis of the demonstrated age-dependent development of tooth and jaw malformations a first examination and selection at the age of 12 weeks can be recommended. Also genetic aspects for tooth and jaw malformations were considered. The estimated heritability for brachygnathia superior was 0.254 ± 0.169 for all examinations and 0.105 ± 0.092 comprising the last examination of each rabbit when fully grown.

Prevalence of paratuberculosis in cattle and control measures within the herd influence the performance of ELISA tests.

Commercial ELISA kits are widely used in the diagnosis of paratuberculosis of dairy cattle. It is critically important to understand the influences on these test results and their relation to faecal culture (FC) results in order to interpret the findings and to make decisions concerning serial testing and control measures. A total of 1021 cattle (423 FC positive, 598 FC negative) from 14 Mycobacterium avium subspecies paratuberculosis (MAP) positive herds were tested with four ELISA systems and FC simultaneously to calculate the kappa coefficients for the agreement of the different ELISA systems as well as find influencing factors. For the agreement of FC and ELISA, the kappa coefficients were low and ranged from 0.19 to 0.24, whereas, results of the different ELISA were consistently high (0.74-0.90). Agreement with FC was enhanced with the duration of control (P≤0.001) and the lactation number (P≤0.01), and reduced with within-herd prevalence (P≤0.001). There were substantial differences in the detection rate of low (15-24 per cent) and high (85-100 per cent) MAP shedders. In conclusion, the factors shown to influence test sensitivity, should be taken into account for validation and interpretation of ELISA tests. The benefit of serial ELISA testing is low.

Decreased serum protein associated with Mycobacterium avium subspecies paratuberculosis shedding in German Holstein cows.

Using well established metabolic parameters, this study aimed to substantiate differences in protein and energy metabolism between Mycobacterium avium subspecies paratuberculosis (MAP) positive and negative dairy cows tested by faecal culture. A total of 227 MAP-positive and 239 MAP-negative German Holstein cows kept in 13 MAP-positive dairy herds were selected for metabolic testing. The serum concentrations of total protein (TP), bilirubin, cholesterol and betahydroxybutyrate were measured as well as the activities of Glutamate-Dehydrogenase (GLDH) and Aspartate-Aminotransferase. MAP-positive cows were characterised by a decreased mean TP (66.5 g/l) compared to the MAP-negative controls (73.2 g/l). Mean log10 GLDH activities tended to be higher in MAP-positive than MAP-negative cows. Concerning TP, there was a significant interaction between MAP status and farm. Within four farms, the difference between MAP-positive and MAP-negative animals differed significantly, while in the other farms this difference was not significant. It is concluded that a decreased TP and an increased GLDH indicate alterations in protein metabolism. These findings suggest an enhanced liver cell turnover in MAP-positive cows. The results contribute to an understanding of the metabolic alterations in MAP-positive dairy cows.

Paratuberculosis: decrease in milk production of German Holstein dairy cows shedding Mycobacterium avium ssp. paratuberculosis depends on within-herd prevalence.

Paratuberculosis impairs productivity of infected dairy cows because of reduced milk production and fertility and enhanced risk of culling. The magnitude of the milk yield depression in individual cows is influenced by factors such as parity, the stage of the disease and the choice of test used. The objectives of this case-control study were to substantiate the influence of the different levels of the within-herd prevalence (WHP) on individual milk yield of fecal culture (FC)-positive cows (FC+) compared with FC-negative herd-mates (FC-), and to estimate the magnitude of the deviation of the milk yield, milk components and somatic cell count (SCC) in an FC-based study. Of a total of 31 420 cows from 26 Thuringian dairy herds tested for paratuberculosis by FC, a subset of 1382 FC+ and 3245 FC- with milk recording data were selected as cases and controls, respectively. The FC- cows were matched for the same number and stage of lactation (±10 days in milk) as one FC+ from the same herd. Within a mixed model analysis using the fixed effects of Mycobacterium avium ssp. paratuberculosis (MAP) status, lactation number, days in milk, prevalence class of farm and the random effect of farm on milk yield per day (kg), the amount of fat and protein (mg/dl) and lactose (mg/dl) as well as the SCC (1000/ml) were measured. On the basis of least square means, FC+ cows had a lower test-day milk yield (27.7±0.6 kg) compared with FC- (29.0±0.6 kg), as well as a lower milk protein content and a slightly diminished lactose concentration. FC status was not associated with milk fat percentage or milk SCC. In FC+ cows, reduction in milk yield increased with increasing WHP. An interaction of FC status and farm was found for the test-day milk yield, and milk protein percentage, respectively. We conclude that the reduction in milk yield of FC+ cows compared with FC- herd-mates is significantly influenced by farm effects and depends on WHP class. Owners of MAP-positive dairy herds may benefit from the reduction in WHP not only by reducing number of infected individuals but also by diminishing the individual losses in milk production per infected cow, and therefore should establish control measures.

Temperament traits of beef calves measured under field conditions and their relationships to performance.

A total of 3,050 German Angus (Aberdeen Angus x German dual-purpose breeds), Charolais, Hereford, Limousin, and German Simmental calves were used to examine temperament traits of beef cattle using 2 different test procedures. The chute test and the flight-speed test have been validated in terms of routine on-farm applicability. Behavior tests were performed in 2006 and 2007 on 24 commercial beef cattle farms located in the northern and eastern part of Germany. A single, trained observer assigned subjective scores to characterize the behavior of each animal during restraint in the head gate (calm, restless shifting, squirming, vigorous movement, violent struggling) and when leaving the chute (walk, trot, run, jumping out of the chute). Breed was a significant source of variation in chute scores and flight-speed scores (P < 0.001). Charolais and Limousin cattle had the greatest scores in both traits, whereas Herefords had the least (P < 0.001) chute scores. German Angus and Hereford calves had the least (P < 0.001) flight-speeds, indicating that these breeds have a more favorable temperament. Temperament scores differed significantly between male and female calves (P < 0.01), with females scoring better for both traits. Average daily BW gains of the calves were significantly influenced by effects of breed (P < 0.001) and sex (P < 0.001) of the calves. Heritabilities were estimated for chute- and flight-speed scores of beef cattle. They were least for chute score and flight-speed score of Limousin cattle with values of 0.11. In contrast, greatest heritabilities were 0.33 for chute score and 0.36 for flight-speed score of Hereford cattle. Genetic correlations were estimated among both temperament traits, with values between 0.57 and 0.98. Chute scores and visual flight-speed scores were negatively correlated with daily BW gain of the calves in most breeds. The results presented in this paper indicate that on-farm evaluation of beef cattle temperament is possible, either using the chute test or the flight-speed test. Genetic selection seems to be promising to improve temperament traits of beef cattle without decreasing production traits like ADG of the calves.