{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T18:12:01Z","timestamp":1789150321291,"version":"build-2803163510"},"reference-count":113,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T00:00:00Z","timestamp":1600387200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001862","name":"Svenska Forskningsr\u00e5det Formas","doi-asserted-by":"publisher","award":["221-2014-1005"],"award-info":[{"award-number":["221-2014-1005"]}],"id":[{"id":"10.13039\/501100001862","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Agria and SKK Research Fund","award":["P2015-0012"],"award-info":[{"award-number":["P2015-0012"]}]},{"name":"Agria and SKK Research Fund","award":["N2016-0015"],"award-info":[{"award-number":["N2016-0015"]}]},{"name":"Agria and SKK Research Fund","award":["N2017-0016"],"award-info":[{"award-number":["N2017-0016"]}]},{"name":"Agria and SKK Research Fund","award":["N2018-0013"],"award-info":[{"award-number":["N2018-0013"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>In golden retriever dogs, a 1 bp deletion in the canine TTC8 gene has been shown to cause progressive retinal atrophy (PRA), the canine equivalent of retinitis pigmentosa. In humans, TTC8 is also implicated in Bardet\u2013Biedl syndrome (BBS). To investigate if the affected dogs only exhibit a non-syndromic PRA or develop a syndromic ciliopathy similar to human BBS, we recruited 10 affected dogs to the study. The progression of PRA for two of the dogs was followed for 2 years, and a rigorous clinical characterization allowed a careful comparison with primary and secondary characteristics of human BBS. In addition to PRA, the dogs showed a spectrum of clinical and morphological signs similar to primary and secondary characteristics of human BBS patients, such as obesity, renal anomalies, sperm defects, and anosmia. We used Oxford Nanopore long-read cDNA sequencing to characterize retinal full-length TTC8 transcripts in affected and non-affected dogs, the results of which suggest that three isoforms are transcribed in the retina, and the 1 bp deletion is a loss-of-function mutation, resulting in a canine form of Bardet\u2013Biedl syndrome with heterogeneous clinical signs.<\/jats:p>","DOI":"10.3390\/genes11091090","type":"journal-article","created":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T10:22:23Z","timestamp":1600424543000},"page":"1090","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Deletion in the Bardet\u2013Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7378-4991","authenticated-orcid":false,"given":"Suvi","family":"M\u00e4kel\u00e4inen","sequence":"first","affiliation":[{"name":"Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Box 7023, SE-750 07 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1459-0377","authenticated-orcid":false,"given":"Minas","family":"Hellsand","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Uppsala University, Box 593, SE-751 24 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0271-0300","authenticated-orcid":false,"given":"Anna Darlene","family":"van der Heiden","sequence":"additional","affiliation":[{"name":"Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Box 7023, SE-750 07 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3030-2048","authenticated-orcid":false,"given":"Elina","family":"Andersson","sequence":"additional","affiliation":[{"name":"Section of Pathology, Department of Biomedical Sciences and Veterinary Public Health, Faculty of Veterinary Medicine and Animal Science, Swedish University of Agricultural Sciences (SLU), Box 7028, SE-750 07 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elina","family":"Thorsson","sequence":"additional","affiliation":[{"name":"Section of Pathology, Department of Biomedical Sciences and Veterinary Public Health, Faculty of Veterinary Medicine and Animal Science, Swedish University of Agricultural Sciences (SLU), Box 7028, SE-750 07 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7623-7141","authenticated-orcid":false,"given":"Bodil","family":"S. Holst","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, Swedish University of Agricultural Sciences, Box 7054, SE-750 07 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3402-023X","authenticated-orcid":false,"given":"Jens","family":"H\u00e4ggstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, Swedish University of Agricultural Sciences, Box 7054, SE-750 07 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6617-0454","authenticated-orcid":false,"given":"Ingrid","family":"Ljungvall","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, Swedish University of Agricultural Sciences, Box 7054, SE-750 07 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2336-0370","authenticated-orcid":false,"given":"Cathryn","family":"Mellersh","sequence":"additional","affiliation":[{"name":"Canine Genetics Research Group, Kennel Club Genetics Centre, Animal Health Trust, Lanwades Park, Kentford, Newmarket, CB8 7UU Suffolk, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7552-187X","authenticated-orcid":false,"given":"Finn","family":"Hallb\u00f6\u00f6k","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Uppsala University, Box 593, SE-751 24 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5131-3144","authenticated-orcid":false,"given":"G\u00f6ran","family":"Andersson","sequence":"additional","affiliation":[{"name":"Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Box 7023, SE-750 07 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1003-6501","authenticated-orcid":false,"given":"Bj\u00f6rn","family":"Ekesten","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, Swedish University of Agricultural Sciences, Box 7054, SE-750 07 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7480-2669","authenticated-orcid":false,"given":"Tomas F.","family":"Bergstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Box 7023, SE-750 07 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/2052-6687-1-4","article-title":"A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever","volume":"1","author":"Downs","year":"2014","journal-title":"Canine Genet. 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