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1.
Genes (Basel) ; 12(7)2021 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-34356108

RESUMO

A nonsense variant in HPS3, c.2420G>A or p.Trp807*, was recently discovered as the cause for a brown coat color termed cocoa in French Bulldogs. Here, we studied the genotype-phenotype correlation regarding coat color in HPS3 mutant dogs that carried various combinations of mutant alleles at other coat color genes. Different combinations of HPS3, MLPH and TYRP1 genotypes resulted in subtly different shades of brown coat colors. As HPS3 variants in humans cause the Hermansky-Pudlak syndrome type 3, which in addition to oculocutaneous albinism is characterized by a storage pool deficiency leading to bleeding tendency, we also investigated the phenotypic consequences of the HPS3 variant in French Bulldogs on hematological parameters. HPS3 mutant dogs had a significantly lowered platelet dense granules abundance. However, no increased bleeding tendencies in daily routine were reported by dog owners. We therefore conclude that in dogs, the phenotypic effect of the HPS3 variant is largely restricted to pigmentation. While an effect on platelet morphology is evident, we did not obtain any indications for major health problems associated with the cocoa coat color in French Bulldogs. Further studies will be necessary to definitely rule out very subtle effects on visual acuity or a clinically relevant bleeding disorder.


Assuntos
Pelo Animal/metabolismo , Cães/genética , Pigmentos Biológicos/genética , Alelos , Pelo Animal/fisiologia , Animais , Plaquetas/metabolismo , Cruzamento , Estudos de Associação Genética , Genótipo , Síndrome de Hermanski-Pudlak/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Fenótipo , Pigmentação/genética
2.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-31814091

RESUMO

In feline practice, blood groups were considered unimportant until the 1980s. Since then much has been learned. The most important blood group system in cats is the AB (renamed here as ABC) blood group system consisting of blood types A, B and AB (better referred to as C). Type B cats have strong anti-A alloantibodies potentially leading to incompatibility reactions during A-B mismatched transfusions or neonatal isoerythrolysis (NI) in type A and C (AB) kittens born to type B queens. Acute hemolytic transfusion reactions as well as NI have been clinically well documented in cats. Immunological and genetic tests have been established and blood typing and crossmatching test kits have become commercially available. This review updates the current knowledge of these blood types, their genetics, associated incompatibility reactions, and different diagnostic tools for avoiding such reactions in clinical practice.


Assuntos
Antígenos de Grupos Sanguíneos/sangue , Tipagem e Reações Cruzadas Sanguíneas , Animais , Tipagem e Reações Cruzadas Sanguíneas/instrumentação , Tipagem e Reações Cruzadas Sanguíneas/métodos , Tipagem e Reações Cruzadas Sanguíneas/veterinária , Gatos , Reação Transfusional/prevenção & controle , Reação Transfusional/veterinária
3.
Vet Microbiol ; 208: 137-145, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28888628

RESUMO

Neuroinfectious diseases in livestock represent a severe threat to animal health, but their prevalence is not well documented and the etiology of disease often remains unidentified. The aims of this study were to generate baseline data on the prevalence of neuroinfectious diseases in cattle in Switzerland by neuropathological survey, and to identify disease-associated pathogens. The survey was performed over a 1-year period using a representative number of brainstem samples (n=1816) from fallen cattle. In total, 4% (n=73) of the animals had significant lesions, the most frequent types of which were indicative of viral (n=27) and bacterial (n=31) etiologies. Follow-up diagnostics by immunohistochemistry, PCR protocols and next-generation sequencing identified infection with Listeria monocytogenes (n=6), ovine herpesvirus 2 (n=7), bovine astrovirus CH13 (n=2), bovine herpesvirus 6 (n=6), bovine retrovirus CH15 (n=2), posavirus 1 (n=2), and porcine astroviruses (n=2). A retrospective questionnaire-based investigation indicated that animals' owners observed clinical signs of neurological disease in about one-third of cases with lesions, which was estimated to correspond to approximately 85 cases per year in the adult fallen cattle population in Switzerland. This estimate stands in sharp contrast to the number of cases reported to the authorities and reveals a gap in disease surveillance. Systematic neuropathological examination and follow-up molecular testing of neurologically diseased cattle could significantly enhance the efficiency of disease detection for the purposes of estimating the prevalence of endemic diseases, identifying new or re-emerging pathogens, and providing "early warnings" of disease outbreaks.


Assuntos
Doenças dos Bovinos/microbiologia , Encefalite/veterinária , Viroses/veterinária , Animais , Bovinos , Doenças dos Bovinos/diagnóstico , Doenças dos Bovinos/epidemiologia , Doenças dos Bovinos/patologia , Encefalite/epidemiologia , Encefalite/microbiologia , Encefalite/virologia , Estudos Retrospectivos , Suíça/epidemiologia , Viroses/epidemiologia
4.
Virology ; 493: 22-30, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26994586

RESUMO

Non-suppurative encephalitis is one of the most frequent pathological diagnosis in cattle with neurological disease, but there is a gap in the knowledge on disease-associated pathogens. In order to identify viruses that are associated with non-suppurative encephalitis in cattle, we used a viral metagenomics approach on a sample set of 16 neurologically-diseased cows. We detected six virus candidates: parainfluenza virus 5 (PIV-5), bovine astrovirus CH13/NeuroS1 (BoAstV-CH13/NeuroS1), bovine polyomavirus 2 (BPyV-2 SF), ovine herpesvirus 2 (OvHV-2), bovine herpesvirus 6 (BHV-6) and a novel bovine betaretrovirus termed BoRV-CH15. In a case-control study using PCR, BoAstV-CH13 (p=0.046), BoPV-2 SF (p=0.005) and BoHV-6 (p=4.3E-05) were statistically associated with the disease. These data expand our knowledge on encephalitis-associated pathogens in cattle and point to the value of NGS in resolving complex infection scenarios in a clinical disease setting.


Assuntos
Doenças dos Bovinos/virologia , Encefalite Viral/veterinária , Metagenômica , Vírus/isolamento & purificação , Animais , Estudos de Casos e Controles , Bovinos , DNA Viral , Encefalite Viral/virologia , Metagenômica/métodos , RNA Viral , Análise de Sequência de DNA , Análise de Sequência de RNA , Vírus/classificação , Vírus/genética
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