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
Keyword(s):  
Novel Mutation ◽  
Golden Retriever ◽  
Progressive Retinal Atrophy ◽  
Retinal Atrophy

A novel mutation in PDE6B in Spanish Water Dogs with early‐onset progressive retinal atrophy

2020 ◽  
Vol 23 (5) ◽  
pp. 792-796
Author(s):  
Paige A. Winkler ◽  
Harrison D. Ramsey ◽  
Simon M. Petersen‐Jones
Keyword(s):  
Early Onset ◽  
Novel Mutation ◽  
Progressive Retinal Atrophy ◽  
Retinal Atrophy

scholarly journals Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds

2016 ◽  
Vol 85 (4) ◽  
pp. 185-196 ◽  
Author(s):  
E. Beckers ◽  
M. Van Poucke ◽  
L. Ronsyn ◽  
L. Peelman
Keyword(s):  
Frequency Estimation ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Labrador Retriever ◽  
Golden Retriever ◽  
Progressive Retinal Atrophy ◽  
Cavalier King Charles Spaniel ◽  
Low Genetic Diversity ◽  
Retinal Atrophy ◽  
Belgian Population ◽  
Degenerative Myelopathy

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.

scholarly journals A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal Degenerations

PLoS ONE ◽  
2011 ◽  
Vol 6 (6) ◽  
pp. e21452 ◽  
Author(s):  
Louise M. Downs ◽  
Berit Wallin-Håkansson ◽  
Mike Boursnell ◽  
Stefan Marklund ◽  
Åke Hedhammar ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Frameshift Mutation ◽  
Golden Retriever ◽  
Progressive Retinal Atrophy ◽  
Retinal Degenerations ◽  
Retinal Atrophy

scholarly journals A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

PLoS ONE ◽  
2013 ◽  
Vol 8 (8) ◽  
pp. e72122 ◽  
Author(s):  
Saija J. Ahonen ◽  
Meharji Arumilli ◽  
Hannes Lohi
Keyword(s):  
Frameshift Mutation ◽  
Progressive Retinal Atrophy ◽  
Retinal Atrophy

scholarly journals Mechanistic insight into the progressive retinal atrophy disease in dogs via pathway-based genome-wide association analysis

2020 ◽  
Vol 62 (6) ◽  
pp. 765-776
Author(s):  
Sunirmal Sheet ◽  
Srikanth Krishnamoorthy ◽  
Woncheoul Park ◽  
Dajeong Lim ◽  
Jong-Eun Park ◽  
...  
Keyword(s):  
Association Analysis ◽  
Genome Wide Association ◽  
Progressive Retinal Atrophy ◽  
Genome Wide Association Analysis ◽  
Mechanistic Insight ◽  
Genome Wide ◽  
Retinal Atrophy ◽  
Insight Into

scholarly journals Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs

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 ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Genetic Disease ◽  
Mutation Frequency ◽  
Progressive Retinal Atrophy ◽  
Cocker Spaniel ◽  
High Mutation Frequency ◽  
Retinal Atrophy ◽  
History Of ◽  
Eye Examination ◽  
Mutation Region

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.

scholarly journals Clinical and Electroretinographic Findings of Progressive Retinal Atrophy in Miniature Schnauzer Dogs of South Korea

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 ◽  
...  
Keyword(s):  
South Korea ◽  
Progressive Retinal Atrophy ◽  
Retinal Atrophy
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