Mäkeläinen, Suvi and Hellsand, Minas and Van Der Heiden, Anna Darlene and Andersson, Elina and Ström Holst, Bodil and Häggström, Jens and Bersås Ljungvall, Ingrid and Mellersh, Cathryn and Hallböök, Finn and Andersson, Göran and Ekesten, Björn and Bergström, Tomas
(2020).
Deletion in the Bardet-Biedl syndrome gene TTC8 results in a syndromic retinal degeneration in dogs.
Genes. 11
, 1090
, 1-27
[Research article]
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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–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–Biedl syndrome with heterogeneous clinical signs.
Authors/Creators: | Mäkeläinen, Suvi and Hellsand, Minas and Van Der Heiden, Anna Darlene and Andersson, Elina and Ström Holst, Bodil and Häggström, Jens and Bersås Ljungvall, Ingrid and Mellersh, Cathryn and Hallböök, Finn and Andersson, Göran and Ekesten, Björn and Bergström, Tomas | ||||
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Title: | Deletion in the Bardet-Biedl syndrome gene TTC8 results in a syndromic retinal degeneration in dogs | ||||
Series Name/Journal: | Genes | ||||
Year of publishing : | 2020 | ||||
Volume: | 11 | ||||
Article number: | 1090 | ||||
Number of Pages: | 27 | ||||
Publisher: | MDPI | ||||
ISSN: | 2073-4425 | ||||
Language: | English | ||||
Publication Type: | Research article | ||||
Article category: | Scientific peer reviewed | ||||
Version: | Published version | ||||
Copyright: | Creative Commons: Attribution 4.0 | ||||
Full Text Status: | Public | ||||
Subjects: | (A) Swedish standard research categories 2011 > 4 Agricultural Sciences > 403 Veterinary Science > Clinical Science | ||||
Keywords: | Bardet–Biedl syndrome (BBS), primary cilia, ciliopathy, BBS8, progressive retinal atrophy (PRA), retinitis pigmentosa | ||||
URN:NBN: | urn:nbn:se:slu:epsilon-p-107781 | ||||
Permanent URL: | http://urn.kb.se/resolve?urn=urn:nbn:se:slu:epsilon-p-107781 | ||||
Additional ID: |
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ID Code: | 17558 | ||||
Faculty: | VH - Faculty of Veterinary Medicine and Animal Science | ||||
Department: | (VH) > Department of Biomedical Science and Veterinary Public Health (VH) > Dept. of Clinical Sciences (VH) > Dept. of Animal Breeding and Genetics | ||||
Deposited By: | SLUpub Connector | ||||
Deposited On: | 21 Sep 2020 08:45 | ||||
Metadata Last Modified: | 15 Jan 2021 19:44 |
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