Polymorphic microsatellite markers for genetic analysis of collagen genes in suspected collagenopathies in dogs.

Defects in collagen proteins cause a variety of disorders in humans. It can be expected that collagen gene mutations are involved in collagenopathies in dogs. The collagen genes COL3A1, COL5A1, COL5A2, COL6A1, COL6A3, COL9A1, COL9A2, COL9A3, COL10A1 and COL11A1 were identified on the canine genome based on the homology with the human genes. Simple sequence repeats (microsatellites) were found in the chromosomal regions of these genes and investigated for polymorphism in Labrador Retrievers, Bernese Mountain dogs, Boxer dogs and German Shepherd dogs by PCR and subsequent detection of the DNA products. Nine informative microsatellite markers were identified. The markers closely situated to COL9A1, COL9A2 and COL9A3 were used to investigate the involvement of the genes in cranial cruciate ligament rupture in Boxer dogs. It was found that these genes are probably not involved in this abnormality. The markers described here will be useful for a candidate gene approach of suspected collagenopathies specific to dog breeds.

Analysis of the inheritance of white spotting and the evaluation of KIT and EDNRB as spotting loci in Dutch boxer dogs.

The genetic basis of the white spotting pattern in Dutch boxer dogs is not known. We studied whether the segregation of white spotting in boxers follows a Mendelian inheritance pattern. Blood samples were collected, along with digital photographs in standard directions of (grand)parents (n=16) and offspring (n=52) from eight litters of Dutch boxers. In order to select heterozygous parents, we selected nonuniform litters, in which at least one puppy was extreme white. On the basis of criteria for the location, the extent of white spotting, and the mean percentage of pigmented area of the foot soles, we classified 10 dogs as solid colored, 27 as flashy, and 15 as extreme white. This was not a significant deviation from the expected 1:2:1 ratio. Because the flashy phenotype seems to be an intermediate between the two homozygotes, white spotting in the Dutch boxer can be considered to be due to a single gene effect, with incomplete dominance. We have evaluated candidate genes c-KIT (KIT) and EDNRB for segregation with white spotting phenotype in these litters. Using polymorphic markers, very near the KIT and EDNRB genes, we found that segregation of the white spotting pattern did not coincide with segregation of these polymorphic markers. Thus neither KIT nor EDNRB are likely to be responsible for white spotting in the Dutch population of boxers.

[Genetic and epidemiological investigation of a birth cohort of boxers]. / Genetisch-epidemiologisch onderzoek in een geboortecohort boxers.

The aim of this project, which ran from 1 January 1994 to 1 January 1999 (and which will be continued up to 2004), was to study mortality, disease incidence, and risk factors in a birth cohort of purebred boxer dogs born between January 1994 and February 1995 in the Netherlands (n = 2629). The ancestry of the boxer dogs in the cohort was considered a major risk factor. Special attention was given to genetic disorders, because a system for genetic counselling was being planned; however, non-genetic risk factors were also studied. Participation by breeders and owners of boxer dogs was very high. Pup mortality was 22% and was mainly caused by individual pup factors. Between 2 months and 4 years of age, 123 (7.5%) dogs died; the survival rate was 92.5%. The main causes of death were epilepsy (n = 23), heart disease (n = 22), and traffic injury (n = 13). Over the same age range, on average a boxer dog suffered about 4.25 times from a non-serious disease, mainly of the gastro-intestinal tract, upper respiratory tract, or locomotion system, but 20% had a serious, chronic disease. A relatively high heritability estimate (h2) was found for four diseases: cheilo-palatoschisis (h2 = 0.27), cryptorchism (h2 = 0.24), lesions of cruciate ligaments and menisci (h2 = 0.28), epilepsy (h2 = 0.36). Selection by means of genetic counselling, according to a programme developed on the basis of the results of this study, can reduce the frequency of these genetic diseases in purebred populations of boxer dogs. This genetic counselling programme will also be effective in other breeds of dog because it is based on linking specific pedigree and health information with a generally applicable method of estimating breeding values.

[Horner's syndrome in the dog: a retrospective study]. / Het syndroom van Horner bij de hond: een retrospectief onderzoek.

A retrospective study was made of 43 dogs with Horner's syndrome (HS). In the group studied the golden retriever was found to be predisposed for Horner's syndrome. No predisposition in gender or age seemed to exist. Symptomatic treatment with topical 10% phenylephrine alleviates the clinical signs. Generally patients recover in 2 to 6 months.