A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs

Rebekkah J. Hitti-Malin, Louise M. Burmeister, Sally L. Ricketts, Thomas W. Lewis, Louise Pettitt, Mike Boursnell, Ellen C. Schofield, David Sargan, Cathryn S. Mellersh

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Canine progressive retinal atrophies are a group of hereditary retinal degenerations in dogs characterised by depletion of photoreceptor cells in the retina, which ultimately leads to blindness. PRA in the Lhasa Apso (LA) dog has not previously been clinically characterised or described in the literature, but owners in the UK are advised to have their dog examined through the British Veterinary Association/ Kennel Club/ International Sheep Dog Society (BVA/KC/ISDS) eye scheme annually, and similar schemes that are in operation in other countries. After the exclusion of 25 previously reported canine retinal mutations in LA PRA-affected dogs, we sought to identify the genetic cause of PRA in this breed.
Original languageEnglish
JournalBMC Genetics
Volume21
Issue number1
DOIs
Publication statusPublished - 7 Sept 2020

Keywords / Materials (for Non-textual outputs)

  • PRA
  • Canine
  • Canine retinal degeneration
  • Dog
  • IMPG2
  • Inherited
  • Photoreceptor degeneration
  • Progressive retinal atrophy

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