期刊
GENES
卷 12, 期 11, 页码 -出版社
MDPI
DOI: 10.3390/genes12111771
关键词
canine; PRA; retinal degeneration; BBS; BBS2; syndromic
资金
- Kennel Club Charitable Trust
- English Shetland Sheepdog Club UK
- Wellcome Trust [090532/Z/09/Z]
- Kennel Club Charitable Trust in the Kennel Club Genetics Center at the AHT
Canine progressive retinal atrophy (PRA) is a hereditary disease characterized by photoreceptor cell death in the retina, leading to visual impairment. This study identified a causal variant in the BBS2 gene for a distinct form of PRA in Shetland sheepdogs, shedding new light on the molecular mechanism of the disease.
Canine progressive retinal atrophy (PRA) describes a group of hereditary diseases characterized by photoreceptor cell death in the retina, leading to visual impairment. Despite the identification of multiple PRA-causing variants, extensive heterogeneity of PRA is observed across and within dog breeds, with many still genetically unsolved. This study sought to elucidate the causal variant for a distinct form of PRA in the Shetland sheepdog, using a whole-genome sequencing approach. Filtering variants from a single PRA-affected Shetland sheepdog genome compared to 176 genomes of other breeds identified a single nucleotide variant in exon 11 of the Bardet-Biedl syndrome-2 gene (BBS2) (c.1222G > C; p.Ala408Pro). Genotyping 1386 canids of 155 dog breeds, 15 cross breeds and 8 wolves indicated the c.1222G > C variant was only segregated within Shetland sheepdogs. Out of 505 Shetland sheepdogs, seven were homozygous for the variant. Clinical history and photographs for three homozygotes indicated the presence of a novel phenotype. In addition to PRA, additional clinical features in homozygous dogs support the discovery of a novel syndromic PRA in the breed. The development and utilization of a diagnostic DNA test aim to prevent the mutation from becoming more prevalent in the breed.
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