title: Non-allelism of three genes (rcd1, rcd2 and erd) for early-onset hereditary retinal degeneration.
abstract: Cross-breeding experiments were utilized to study the genetics of three autosomal recessive, early onset retinal degenerations in dogs. Irish setters affected with rod-cone dysplasia type 1 (rcd1) were bred to Norwegian elkhounds affected with early retinal degeneration (erd). All offspring (15 pups-two litters) surviving to diagnostic age were phenotypically normal, as assessed by electroretinography, retinal morphology and assay of retinal cyclic nucleotide content. One phenotypically normal female Irish setter-Norwegian elkhound crossbred dog (the progeny of the above breeding and thus heterozygous at both the rcd1 and the erd locus) was bred to a collie dog affected with rod-cone dysplasia type 2 (rcd2). All 11 pups from this breeding also proved phenotypically normal by the above methods. These results establish that the genes rcd1, rcd2 and erd are non-allelic. Biochemical data are also presented that establish that erd, unlike rcd1 and rcd2, is not associated with abnormal metabolism of retinal cyclic guanosine monophosphate (cyclic GMP).
authors.affiliation: Scheie Eye Institute, Philadelphia, Pennsylvania.
authors.forename: G M
authors.initials: GM
authors.lastname: Acland
authors.forename: R T
authors.initials: RT
authors.lastname: Fletcher
authors.forename: S
authors.initials: S
authors.lastname: Gentleman
authors.forename: G J
authors.initials: GJ
authors.lastname: Chader
authors.forename: G D
authors.initials: GD
authors.lastname: Aguirre
mesh_terms: D015105:3',5'-Cyclic-AMP Phosphodiesterases / Q000378:metabolism; D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000378:metabolism; D000818:Animals; D002829:Choroid / Q000378:metabolism; D000242:Cyclic AMP / Q000378:metabolism; D006152:Cyclic GMP / Q000378:metabolism; D004285:Dogs; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D008297:Male; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000378:metabolism; D012160:Retina / Q000378:metabolism; D012162:Retinal Degeneration / Q000235:genetics* / Q000378:metabolism
chemical_list: D000242:Cyclic AMP; D015105:3',5'-Cyclic-AMP Phosphodiesterases; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D006152:Cyclic GMP