{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:18:07Z","timestamp":1760145487379,"version":"build-2065373602"},"reference-count":60,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,7,20]],"date-time":"2024-07-20T00:00:00Z","timestamp":1721433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Dogs Trust","award":["G109751","G109537"],"award-info":[{"award-number":["G109751","G109537"]}]},{"name":"Kennel Club Charitable Trust","award":["G109751","G109537"],"award-info":[{"award-number":["G109751","G109537"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Progressive retinal atrophies (PRAs) are a genetically heterogeneous group of inherited eye diseases that affect over 100 breeds of dog. The initial clinical sign is visual impairment in scotopic conditions, as a consequence of rod photoreceptor cell degeneration. Photopic vision degeneration then follows, due to progression of the disease to the cone photoreceptors, and ultimately results in complete blindness. Two full-sibling English Shepherds were diagnosed with PRA at approximately 5 years old and tested clear of all published PRA genetic variants. This study sought to identify the novel PRA-associated variant segregating in the breed. We utilised a combined approach of whole genome sequencing of the probands and homozygosity mapping of four cases and 22 controls and identified a short interspersed nuclear element within an alternatively spliced exon in FAM161A. The XP_005626197.1 c.17929_ins210 variant was homozygous in six PRA cases and heterozygous or absent in control dogs, consistent with a recessive mode of inheritance. The insertion is predicted to extend exon 4 by 39 aberrant amino acids followed by an early termination stop codon. PRA is intractable to treatment, so the development of a genetic screening test, based on the associated variant, is significant, because it provides dog breeders\/owners with a means of reducing the frequency of the disease variant within this breed as well as minimising the risk of breeding puppies that will develop this blinding disease.<\/jats:p>","DOI":"10.3390\/genes15070952","type":"journal-article","created":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T15:47:32Z","timestamp":1721836052000},"page":"952","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1867-1950","authenticated-orcid":false,"given":"Katherine","family":"Stanbury","sequence":"first","affiliation":[{"name":"Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0648-1418","authenticated-orcid":false,"given":"Ellen","family":"Schofield","sequence":"additional","affiliation":[{"name":"Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan","family":"McLaughlin","sequence":"additional","affiliation":[{"name":"Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Forman","sequence":"additional","affiliation":[{"name":"Wisdom Panel, Mars Petcare (Science and Diagnostics Division), Freeby Lane, Waltham on the Wolds, Leicestershire LE14 4RS, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathryn","family":"Mellersh","sequence":"additional","affiliation":[{"name":"Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,20]]},"reference":[{"key":"ref_1","unstructured":"Cambridge CGCatUo (2024, April 18). 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