scholarly journals A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever

2014 ◽  
Vol 1 (1) ◽  
pp. 4 ◽  
Author(s):  
Louise M Downs ◽  
Berit Wallin-Håkansson ◽  
Tomas Bergström ◽  
Cathryn S Mellersh
2020 ◽  
Vol 23 (5) ◽  
pp. 792-796
Author(s):  
Paige A. Winkler ◽  
Harrison D. Ramsey ◽  
Simon M. Petersen‐Jones

2016 ◽  
Vol 85 (4) ◽  
pp. 185-196 ◽  
Author(s):  
E. Beckers ◽  
M. Van Poucke ◽  
L. Ronsyn ◽  
L. Peelman

A Belgian population of ten breeds with a low to moderately low genetic diversity or which are relatively popular in Belgium, i.e. Bichon frise, Bloodhound, Bouvier des Flandres, Boxer, Cavalier King Charles spaniel, Irish setter, Papillon, Rottweiler, Golden retriever and Labrador retriever, was genotyped for all potentially relevant disease-causing variants known at the start of the study. In this way, the frequency was estimated for 26 variants in order to improve breeding advice. Disorders with a frequency high enough to recommend routine genotyping in breeding programs are (1) degenerative myelopathy for the Bloodhound, (2) arrhythmogenic right ventricular cardiomyopathy and degenerative myelopathy for Boxers, (3) episodic falling syndrome and macrothrombocytopenia for the Cavalier King Charles spaniel, (4) progressive retinal atrophy rod cone dysplasia 4 for the Irish setter (5) Golden retriever progressive retinal atrophy 1 for the Golden retriever and (6) exercise induced collapse and progressive rod-cone degeneration for the Labrador retriever. To the authors’ knowledge, in this study, the presence of a causal mutation for a short tail in the Bouvier des Flandres is described for the first time.


PLoS ONE ◽  
2011 ◽  
Vol 6 (6) ◽  
pp. e21452 ◽  
Author(s):  
Louise M. Downs ◽  
Berit Wallin-Håkansson ◽  
Mike Boursnell ◽  
Stefan Marklund ◽  
Åke Hedhammar ◽  
...  

PLoS ONE ◽  
2013 ◽  
Vol 8 (8) ◽  
pp. e72122 ◽  
Author(s):  
Saija J. Ahonen ◽  
Meharji Arumilli ◽  
Hannes Lohi

Animals ◽  
2019 ◽  
Vol 9 (10) ◽  
pp. 844 ◽  
Author(s):  
Larissa R. Andrade ◽  
Amanda M. Caceres ◽  
Anelize S. Trecenti ◽  
Claudia Valeria S. Brandão ◽  
Micaella G. Gandolfi ◽  
...  

Progressive retinal atrophy (PRA) due to the c.5G>A mutation in the progressive rod–cone degeneration (PRCD) gene is an important genetic disease in English cocker spaniel (ECS) dogs. Because the prevalence of this disease has not been verified in Brazil, this study aimed to evaluate the allele frequency of the c.5G>A mutation in the PRCD gene. Purified DNA from 220 ECS dogs was used for genotyping, of which 131 were registered from 18 different kennels and 89 were unregistered. A clinical eye examination was performed in 28 of the genotyped animals; 10 were homozygous mutants. DNA fragments containing the mutation region were amplified by PCR and subjected to direct genomic sequencing. The prcd-PRA allele frequency was 25.5%. Among the registered dogs, the allele frequency was 14.9%; among the dogs with no history of registration, the allele frequency was 41%. Visual impairment was observed in 80% (8/10) of the homozygous mutant animals that underwent clinical eye examination. The high mutation frequency found in this study emphasizes the importance of genotyping ECSs as an early diagnostic test, especially as part of an informed breeding program, to avoid clinical cases of PRA.


2013 ◽  
Vol 75 (10) ◽  
pp. 1303-1308 ◽  
Author(s):  
Man Bok JEONG ◽  
Shin Ae PARK ◽  
Se Eun KIM ◽  
Young Woo PARK ◽  
Kristina NARFSTR^|^Ouml;M ◽  
...  

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