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Dekomien, Gabriele; Epplen, Jörg T.

doi:10.1186/1471-2156-3-12

Cited by 3 publications

(1 citation statement)

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“…Examples include PDE6A (Wang et al 1999), PDE6D and PDE6G (Dekomien and Epplen 2003; Wang et al 1999), arrestin (Dekomien and Epplen 2002c), peripherin/ rds (Ray et al 1996; Runte et al 2000), ROM1 (Gould et al 1997; Klein et al 1998), phosducin (Dekomien and Epplen 2002a; Lin et al 1998; Zhang et al 1998), opsin (Gould et al 1995; Ray et al 1999), and recoverin (Dekomien and Epplen 2002b). As mutations could be identified in only 3.4% of the candidate gene studies of canine RDs, there was considerable pessimism as to the applicability and efficacy of this approach (Aguirre-Hernandez and Sargan 2005).…”

Section: Searching For Genes and Mutations That Cause Canine Retinal mentioning

confidence: 99%

Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies

2011

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Considerable clinical and molecular variations have been known in retinal blinding diseases in man and also in dogs. Different forms of retinal diseases occur in specific breed(s) caused by mutations segregating within each isolated breeding population. While molecular studies to find genes and mutations underlying retinal diseases in dogs have benefited largely from the phenotypic and genetic uniformity within a breed, within- and across-breed variations have often played a key role in elucidating the molecular basis. The increasing knowledge of phenotypic, allelic, and genetic heterogeneities in canine retinal degeneration has shown that the overall picture is rather more complicated than initially thought. Over the past 20 years, various approaches have been developed and tested to search for genes and mutations underlying genetic traits in dogs, depending on the availability of genetic tools and sample resources. Candidate gene, linkage analysis, and genome-wide association studies have so far identified 24 mutations in 18 genes underlying retinal diseases in at least 58 dog breeds. Many of these genes have been associated with retinal diseases in humans, thus providing opportunities to study the role in pathogenesis and in normal vision. Application in therapeutic interventions such as gene therapy has proven successful initially in a naturally occurring dog model followed by trials in human patients. Other genes whose human homologs have not been associated with retinal diseases are potential candidates to explain equivalent human diseases and contribute to the understanding of their function in vision.

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Section: Searching For Genes and Mutations That Cause Canine Retinal mentioning

confidence: 99%

Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies

2011

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Retina

Ofri¹

2008

Slatter's Fundamentals of Veterinary Ophthalmology

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Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs

Lippmann

Pasternack

Kraczyk

et al. 2006

J Negat Results BioMed

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BackgroundGeneralized progressive retinal atrophy (gPRA) is a hereditary ocular disorder with progressive photoreceptor degeneration in dogs. Four retina-specific genes, ATP binding cassette transporter retina (ABCA4), connexin 36 (CX36), c-mer tyrosin kinase receptor (MERTK) and photoreceptor cell retinol dehydrogenase (RDH12) were investigated in order to identify mutations leading to autosomal recessive (ar) gPRA in 29 breeds of dogs.ResultsMutation screening was performed initially by PCR and single strand conformation polymorphism (SSCP) analysis, representing a simple method with comparatively high reliability for identification of sequence variations in many samples. Conspicuous banding patterns were analyzed via sequence analyses in order to detect the underlying nucleotide variations. No pathogenetically relevant mutations were detected in the genes ABCA4, CX36, MERTK and RDH12 in 71 affected dogs of 29 breeds. Yet 30 new sequence variations were identified, both, in the coding regions and intronic sequences. Many of the sequence variations were in heterozygous state in affected dogs.ConclusionBased on the ar transmittance of gPRA in the breeds investigated, informative sequence variations provide evidence allowing indirect exclusion of pathogenetic mutations in the genes ABCA4 (for 9 breeds), CX36 (for 12 breeds), MERTK (for all 29 breeds) and RDH12 (for 9 breeds).

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Cited by 3 publications

References 29 publications

Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies

Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies

Retina

Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs

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