Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase - PubMed (original) (raw)

. 1990 Oct 18;347(6294):677-80.

doi: 10.1038/347677a0.

Affiliations

• PMID: 1977087
• DOI: 10.1038/347677a0

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

C Bowes et al. Nature. 1990.

Abstract

Mice homozygous for the rd mutation display hereditary retinal degeneration and the classic rd lines serve as a model for human retinitis pigmentosa. In affected animals the retinal rod photoreceptor cells begin degenerating at about postnatal day 8, and by four weeks no photoreceptors are left. Degeneration is preceded by accumulation of cyclic GMP in the retina and is correlated with deficient activity of the rod photoreceptor cGMP-phosphodiesterase. We have recently isolated a candidate complementary DNA for the rd gene from a mouse retinal library and completed the characterization of cDNAs encoding all subunits of bovine photoreceptor phosphodiesterase. The candidate cDNA shows strong homology with a cDNA encoding the bovine phosphodiesterase beta subunit. Here we present evidence that the candidate cDNA is the murine homologue of bovine phosphodiesterase beta cDNA. We conclude that the mouse rd locus encodes the rod photoreceptor cGMP-phosphodiesterase beta subunit.

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Comment in

• Human genetics. Deficiencies in sight with the candidate gene approach.
  Dryja TP. Dryja TP. Nature. 1990 Oct 18;347(6294):614. doi: 10.1038/347614a0. Nature. 1990. PMID: 2215691 No abstract available.

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