Non-allelism of three genes (rcd1, rcd2 and erd) for early-onset hereditary retinal degeneration

Exp Eye Res. 1989 Dec;49(6):983-98. doi: 10.1016/s0014-4835(89)80021-1.

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).

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 3',5'-Cyclic-AMP Phosphodiesterases / metabolism
  • 3',5'-Cyclic-GMP Phosphodiesterases / metabolism
  • Animals
  • Choroid / metabolism
  • Cyclic AMP / metabolism
  • Cyclic GMP / metabolism
  • Dogs
  • Female
  • Genes, Recessive*
  • Genotype
  • Male
  • Pedigree
  • Pigment Epithelium of Eye / metabolism
  • Retina / metabolism
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / metabolism

Substances

  • Cyclic AMP
  • 3',5'-Cyclic-AMP Phosphodiesterases
  • 3',5'-Cyclic-GMP Phosphodiesterases
  • Cyclic GMP