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Deletion in the Bardet-Biedl syndrome gene TTC8 results in a syndromic retinal degeneration in dogs

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
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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
Title:Deletion in the Bardet-Biedl syndrome gene TTC8 results in a syndromic retinal degeneration in dogs
Year of publishing :2020
Volume:11
Article number:1090
Number of Pages:27
Publisher:MDPI
ISSN:2073-4425
Language:English
Publication Type:Journal 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:
Type of IDID
DOI10.3390/genes11091090
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:21 Sep 2020 10:44

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