Goniodysgenesis is a developmental abnormality of the anterior chamber of the eye. It is generally considered to be congenital in dogs ( Canis lupus familiaris ), and has been associated with glaucoma and blindness. Goniodysgenesis and early-onset glaucoma initially emerged in Border Collies in Australia in the late 1990s and have subsequently been found in this breed in Europe and the USA. The objective of the present study was to determine the genetic basis of goniodysgenesis in Border Collies. Clinical diagnosis was based on results of examinations by veterinary ophthalmologists of affected and unaffected dogs from eleven different countries. Genotyping using the Illumina high density canine single nucleotide variant genotyping chip was used to identify a candidate genetic region. There was a highly significant peak of association over chromosome 17, with a p -value of 2 × 10 −13 . Expression profiles and evolutionary conservation of candidate genes were assessed using public databases. Whole genome sequences of three dogs with glaucoma, three severely affected by goniodysgenesis and three unaffected dogs identified a missense variant in the olfactomedin like 3 ( OLFML3 ) gene in all six affected animals. This was homozygous for the risk allele in all nine cases with glaucoma and 12 of 14 other severely affected animals. Of 67 reportedly unaffected animals, only one was homozygous for this variant (offspring of parents both with goniodysgenesis who were also homozygous for the variant). Analysis of pedigree information was consistent with an autosomal recessive mode of inheritance for severe goniodysgenesis (potentially leading to glaucoma) in this breed. The identification of a candidate genetic region and putative causative variant will aid breeders to reduce the frequency of goniodysgenesis and the risk of glaucoma in the Border Collie population.

This is a prospective study to investigate the impact of genotype profiles on race performance in racing pigeons. Genotypes studied included lactate dehydrogenase A (LDHA), dopamine receptor (DRD), myostatin (MSTN), and feather keratin (F-KER), as well as demographic factors such as gender, color, and the mtDNA. This study shows differences within genotypes DRD456 (P = 0.027) and F-KER (P = 0.018). For DRD456, race coefficients were lower (= better performance) for genotype CT. For F-KER, race coefficients were lower for GG, overall, while within the F-KER TT genotype race performance was best at longer distances. After including Queen L mtDNA in the model, both the effects of F-KER and DRD456 remained significant. The effect of Queen L mtDNA alone was significant (P = 0.004) and mainly driven by the effect in short distance races. In addition, birds with the checker color check had a lower race coefficient than birds with the color blue bar (P = 0.0012). Also, this effect was independently significant and remained significant in the multivariate analysis. No differences in race coefficients were seen between genotypes for LDHA and MSTN nor for the demographic factor of gender. While individual factors were related to differences in race performance, and although one could be tempted to favor a bird with DRD4 CCCT–F-KER TT–LDHA AB–checker color for long distance races, further and larger prospective studies including birds unrelated to our family of birds will be needed to confirm our findings and to determine a superior profile including multiple genetic factors.

Goniodysgenesis is a developmental abnormality of the anterior chamber of the eye. It is generally considered to be congenital in dogs (Canis lupus familiaris), and has been associated with glaucoma and blindness. Goniodysgenesis and early-onset glaucoma initially emerged in Border Collies in Australia in the late 1990s and has subsequently been found in Europe and the USA. The objective of the present study was to determine the genetic basis of goniodysgenesis in Border Collies. Clinical diagnosis was based on results of examinations by veterinary ophthalmologists of affected and unaffected dogs from eleven different countries. Genotyping using the Illumina high density canine SNP chip and whole genome sequencing were used to identify candidate genetic regions. Expression profiles and evolutionary conservation of candidate genes were assessed using public databases. Analysis of pedigree information was consistent with an autosomal recessive mode of inheritance for severe goniodysgenesis (potentially leading to glaucoma) in this breed. There was a highly significant peak of association over chromosome 17, with a p-value of 2 × 10-13. Whole genome sequences of three dogs with glaucoma, three severely affected and three unaffected dogs identified a missense variant in the olfactomedin like 3 (OLFML3) gene in all six affected animals. This was homozygous in all nine cases with glaucoma and 12 of 14 other severely affected animals. Of 67 reportedly unaffected animals, only one (offspring of two homozygous affected parents) was homozygous for this variant. The identification of a candidate genetic region and putative causative mutation will aid breeders to reduce the frequency of goniodysgenesis and the risk of glaucoma in the Border Collie population.