Farber D B, Danciger J S, Aguirre G
Jules Stein Eye Institute, University of California, School of Medicine, Los Angeles 90024-7008.
Neuron. 1992 Aug;9(2):349-56. doi: 10.1016/0896-6273(92)90173-b.
Irish setter dogs affected with rod-cone dysplasia 1 have elevated levels of retinal cGMP resulting from deficient rod-specific cGMP phosphodiesterase (cGMP PDE) activity. We investigated the mRNAs coding for the three subunits of cGMP PDE and for the proteins involved in the activation/deactivation of this enzyme in the retinas of developing affected and control dogs. While the photoreceptor cells are viable in the diseased retinas, opsin, transducin alpha 1 and beta 1, 48 and 33 kd proteins, and cGMP PDE alpha and gamma mRNAs have normal transcript sizes and levels. In contrast, a different pattern of cGMP PDE beta mRNAs with lower than normal concentrations is present in the developing affected retinas prior to degeneration. Our observations suggest that an abnormality involving cGMP PDE beta expression is implicated in rod-cone dysplasia 1.
患有视杆-视锥细胞发育不良1型的爱尔兰雪达犬，由于视杆特异性环鸟苷酸磷酸二酯酶（cGMP PDE）活性不足，其视网膜中的环鸟苷酸水平升高。我们研究了发育中的患病犬和对照犬视网膜中编码cGMP PDE三个亚基以及参与该酶激活/失活的蛋白质的mRNA。虽然患病视网膜中的光感受器细胞是存活的，但视蛋白、转导素α1和β1、48和33 kd蛋白质以及cGMP PDEα和γ mRNA具有正常的转录本大小和水平。相比之下，在退化之前，发育中的患病视网膜中存在浓度低于正常水平的cGMP PDEβ mRNA的不同模式。我们的观察结果表明，涉及cGMP PDEβ表达的异常与视杆-视锥细胞发育不良1型有关。
