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  • Mäkeläinen, SuviSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Swedish Univ Agr Sci SLU, Dept Anim Breeding & Genet, Box 7023, SE-75007 Uppsala, Sweden. (author)

Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs

  • Article/chapterEnglish2020

Publisher, publication year, extent ...

  • 2020-09-18
  • MDPI,2020
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-424628
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-424628URI
  • https://doi.org/10.3390/genes11091090DOI
  • https://res.slu.se/id/publ/107781URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • In golden retriever dogs, a 1 bp deletion in the canineTTC8gene has been shown to cause progressive retinal atrophy (PRA), the canine equivalent of retinitis pigmentosa. In humans,TTC8is 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-lengthTTC8transcripts 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.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Hellsand, MinasUppsala universitet,Hallböök: Stamceller, retinal utveckling och regeneration(Swepub:uu)minal347 (author)
  • van Der Heiden, Anna DarleneSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Swedish Univ Agr Sci SLU, Dept Anim Breeding & Genet, Box 7023, SE-75007 Uppsala, Sweden. (author)
  • Andersson, ElinaSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Inst för biomedicin och veterinär folkhälsovetenskap,Department of Biomedical Science and Veterinary Public Health,Swedish Univ Agr Sci SLU, Fac Vet Med & Anim Sci, Dept Biomed Sci & Vet Publ Hlth, Sect Pathol, Box 7028, SE-75007 Uppsala, Sweden. (author)
  • Thorsson, ElinaSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Inst för biomedicin och veterinär folkhälsovetenskap,Department of Biomedical Science and Veterinary Public Health,Swedish Univ Agr Sci SLU, Fac Vet Med & Anim Sci, Dept Biomed Sci & Vet Publ Hlth, Sect Pathol, Box 7028, SE-75007 Uppsala, Sweden. (author)
  • Ström Holst, BodilSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish Univ Agr Sci, Dept Clin Sci, Box 7054, SE-75007 Uppsala, Sweden.(Swepub:slu)47321 (author)
  • Häggström, JensSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish Univ Agr Sci, Dept Clin Sci, Box 7054, SE-75007 Uppsala, Sweden.(Swepub:slu)48327 (author)
  • Ljungvall, IngridSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish Univ Agr Sci, Dept Clin Sci, Box 7054, SE-75007 Uppsala, Sweden.(Swepub:slu)48949 (author)
  • Mellersh, CathrynAnim Hlth Trust, Kennel Club Genet Ctr, Canine Genet Res Grp, Lanwades Pk, Newmarket CB8 7UU, Suffolk, England. (author)
  • Hallböök, Finn,1962-Uppsala universitet,Hallböök: Stamceller, retinal utveckling och regeneration(Swepub:uu)finnhb (author)
  • Andersson, GöranSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Swedish Univ Agr Sci SLU, Dept Anim Breeding & Genet, Box 7023, SE-75007 Uppsala, Sweden.(Swepub:slu)50422 (author)
  • Ekesten, BjörnSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish Univ Agr Sci, Dept Clin Sci, Box 7054, SE-75007 Uppsala, Sweden.(Swepub:slu)46716 (author)
  • Bergström, Tomas F.Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Swedish Univ Agr Sci SLU, Dept Anim Breeding & Genet, Box 7023, SE-75007 Uppsala, Sweden.(Swepub:slu)48194 (author)
  • Sveriges lantbruksuniversitetInstitutionen för husdjursgenetik (HGEN) (creator_code:org_t)
  • Sveriges lantbruksuniversitet

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