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Deletion in the Bardet–Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs
- Source :
- Genes, Vol 11, Iss 1090, p 1090 (2020), Genes, Volume 11, Issue 9
- Publication Year :
- 2020
- Publisher :
- MDPI AG, 2020.
-
Abstract
- 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&ndash<br />Biedl 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&ndash<br />Biedl syndrome with heterogeneous clinical signs.
Details
- Language :
- English
- ISSN :
- 20734425
- Volume :
- 11
- Issue :
- 1090
- Database :
- OpenAIRE
- Journal :
- Genes
- Accession number :
- edsair.dedup.wf.001..84d342220137bb605c9f15dc1b1c1bce