25 Feb 2020
New DNA test launched to help breeders reduce prevalence of blinding condition in breed.
David Woodmansey
Job Title
A Shetland sheepdog displaying the additional physical characteristics seen in dogs of this breed with the BBS2-PRA mutation. Image © AHT
Scientists working at The Kennel Club (KC) Genetics Centre at the AHT have identified a new mutation that causes the blinding condition progressive retinal atrophy (PRA) in Shetland sheepdogs.
PRA is a recognised condition within the breed, but the mutation causing this form – named BBS2-PRA – has not been previously identified.
Unusually, alongside PRA, dogs with this novel mutation have additional physical characteristics, including:
The condition is comparable to a disorder in humans called Bardet-Biedl syndrome.
A DNA test to identify affected and carrier dogs with the mutation has now been developed by the team.
The discovery of BBS2-PRA is particularly significant as it is the first disease mutation discovered as a direct result of the Give a Dog a Genome project.
Launched in 2016, with an initial grant of £50,000 from The KC Charitable Trust, the project aimed to create the UK’s largest canine genome bank to help generations of dogs.
To date, the project has sequenced the entire genomes of 89 dogs from 77 breeds.
These genomes are being analysed to help understand which changes in the canine genome are neutral and which have a negative effect on dog health.
The DNA test will be available from the AHT DNA Testing Service from 5 March and the AHT’s stand at Crufts (Hall 3, Stand 55).
