Progressive retinal atrophy: a model for retinitis pigmentosa in companion animals.
The generalised progressive atrophies (PRA's) are a heterogeneous group of inherited retinopathies in dogs and cats. They show marked similarities to the retinitis pigmentosas (RP) in man, as well as to a number of inherited retinal degenerations of laboratory rodents. Of the various recessively inherited forms of PRA in the dog, that in the Irish setter is due to a nonsense mutation in the gene encoding cGMP-PDE-beta subunit. Mutations at this locus are also known to cause a proportion of human RP cases. We are interested in applying gene therapy to these diseases.
Sargan
D R
DR
Department of Veterinary Pathology, University of Edinburgh, Summerhall.
Clements
P J
PJ
Sohal
A
A
Gregory
C Y
CY
Bhattacharya
S S
SS
Petersen-Jones
S M
SM
D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics; D000818:Animals; D000829:Animals, Domestic; D002415:Cats; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; D004195:Disease Models, Animal; D004285:Dogs; D015316:Genetic Therapy; D006801:Humans; D010727:Phosphoric Diester Hydrolases; D012174:Retinitis Pigmentosa / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology
D010727:Phosphoric Diester Hydrolases; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human