scholarly journals Gene Panel Screening Across Canine Eye Disorders Highlights Genetic Heterogeneity and the Need for Molecular Discoveries

2021 ◽  
Author(s):  
Inka-Tuulevi Pettinen ◽  
Jonas Donner ◽  
Joni A. Turunen ◽  
Maria Kaukonen ◽  
Hannes Lohi
Keyword(s):  
Genetic Heterogeneity ◽  
Domestic Dog ◽  
Eye Disease ◽  
Breeding Programs ◽  
Progressive Retinal Atrophy ◽  
The Past ◽  
Eye Disorders ◽  
Clinical Support ◽  
Retinal Atrophy ◽  
Molecular Description

Abstract Blinding inherited eye diseases affect millions of people worldwide. Despite a large number of gene discoveries, many patients lack the molecular description of their condition. The domestic dog has become a widely used model to study inherited eye disease genetics and therapeutics during the past 15 years, and nearly 50 genes have been implicated across breeds. Despite a continuous discovery of new causative variants across canine eye disease groups, the genetic cause in most cases is expected to remain unknown. We tested this hypothesis by screening 49 known variants in 194 dogs from 71 breeds affected with progressive retinal atrophy (PRA), glaucoma, or lens luxation and validated the results in additional 1180 dogs. We found that eleven variants in ten genes explained 28% of the studied cases. We also observed new PRA-affected breeds for the RPGRIP1 c.340_341insA29GGAAGCAACAGGATG variant, and clinical support for the pathogenicity of the PDE6A c.1940delA and ADAMTS10 c.2231G>A variants for PRA and glaucoma in two new breeds, respectively. Our findings indicate extensive genetic heterogeneity and the lack of molecular descriptions in more than two-thirds of the LL, glaucoma, and PRA cases by the current gene tests. There is an urgent need for discoveries that would be critical not only for veterinary molecular diagnostics and breeding programs but also for establishing models to characterize pathophysiology and new therapeutic options for the corresponding human eye disorders.

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 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

scholarly journals Buckwheat Breeding. Past, Present and Future / Žlahtnjenje ajde v preteklosti, sedanjosti in prihodnosti

2020 ◽  
Vol 61 (1) ◽  
pp. 25-36
Author(s):  
Clayton G. Campbell ◽  
Mio Nagano
Keyword(s):  
Crop Improvement ◽  
Value Added ◽  
Fagopyrum Esculentum ◽  
Yield Potential ◽  
Interspecific Crosses ◽  
Flower Number ◽  
Breeding Programs ◽  
Fagopyrum Homotropicum ◽  
The Past ◽  
Nutritional Components

Buckwheat crop improvement by breeding has been taking place over the past 100 years or more. During this time there has been improvements in many desirable agronomic characteristics which has resulted in higher yields in many of the breeding programs. Phenotypic modifications, such as dwarf, semi-dwarf and branching have been reported. There has also been an effort to increase flower number as this has been shown in cross pollinating buckwheat, to increase yields. Flower cluster modifications and their effects on yield have also been studied. Increased reports on the discovery of buckwheat wild species have been reported from several programs with many interspecific crosses having taken place. Several of these crosses were performed with Fagopyrum esculentum in efforts to increase variability which can be used to increase yield potential as well as to obtain increased nutritional components.  More recent efforts have focused on the development of self-pollinating buckwheat, both from introgression of genes from Fagopyrum homotropicum as well as from mutations in cross pollinating buckwheat. The main problem has been in breeding depression which has occurred in many of the reported attempts. However, high yielding homomorphic, self-pollinating varieties have been developed and are now in commercial production. There is now emphasis being placed on many of the nutritional aspects of buckwheat flour as well as value added components. It is expected that this will increase over time.  Key words: Buckwheat breeding, homomorphic, autogamous buckwheat.   Izvleček Žlahtnjenje ajde poteka že več kot 100 let. V tem času je bila dosežena izboljšava željenih agronomskih lastnosti, kar je pri mnogih programih žlahtnjenja omogočilo večje pridelke. Raziskovalci poročajo o fenotipskih modifikacijah, kot je pritlikava ali pol-pritlikava rast in razvejanje. Za povečanje pridelka so bile raziskane modifikacije socvetij. Število poročil o odkritjih divjih sorodnikov ajde in o mnogih medvrstnih križanjih se je v zadnjem času povečalo. V mnoga od teh križanj je bila vključena navadna ajda (Fagopyrum esculentum), da bi povečali  variabilnost, kar bi lahko omogočilo povečanje pridelka in izboljšanje prehranskih lastnosti. Novejša prizadevanja so se osredotočila na razvoj samooplodnosti pri ajdi, z vključitvijo genov vrste Fagopyrum homotropicum, kot tudi mutacij pri ajdi, ki se je opraševala navzkrižno.  Pri tem je bila glavna težava preseči  depresijo zaradi samooploditev, depresija se je pojavila pri večih poskusih samooploditve. Ne glede na to je uspelo dobiti visokorodne homomorfne samooplodne sorte za ponudbo na trgu semen. Sedaj se prizadevanja usmerjajo k izboljšanju prehranske vrednosti ajde in pomembnih sestavin v ajdovi moki. Pričakovati je, da se bo pomen prehranske vrednosti ajde sčasoma še povečeval. Ključne besede: žlahtnjenje ajde, homomorfnost, samo­oplodna ajda

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 Autonomous early detection of eye disease in childhood photographs

2019 ◽  
Vol 5 (10) ◽  
pp. eaax6363 ◽  
Author(s):  
Micheal C. Munson ◽  
Devon L. Plewman ◽  
Katelyn M. Baumer ◽  
Ryan Henning ◽  
Collin T. Zahler ◽  
...  
Keyword(s):  
Early Detection ◽  
Confidence Interval ◽  
Clinical Utility ◽  
Smartphone Application ◽  
Eye Disease ◽  
Computer Assisted ◽  
Eye Disorders ◽  
Coats Disease ◽  
Sensitivity Specificity

The “red reflex test” is used to screen children for leukocoria (“white eye”) in a standard pediatric examination, but is ineffective at detecting many eye disorders. Leukocoria also presents in casual photographs. The clinical utility of screening photographs for leukocoria is unreported. Here, a free smartphone application (CRADLE: ComputeR-Assisted Detector of LEukocoria) was engineered to detect photographic leukocoria and is available for download under the name “White Eye Detector.” This study determined the sensitivity, specificity, and accuracy of CRADLE by retrospectively analyzing 52,982 longitudinal photographs of children, collected by parents before enrollment in this study. The cohort included 20 children with retinoblastoma, Coats’ disease, cataract, amblyopia, or hyperopia and 20 control children. For 80% of children with eye disorders, the application detected leukocoria in photographs taken before diagnosis by 1.3 years (95% confidence interval, 0.4 to 2.3 years). The CRADLE application allows parents to augment clinical leukocoria screening with photography.

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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