Danciger M, Kozak C A, Li T, Applebury M L, Farber D B
Jules Stein Eye Institute, UCLA School of Medicine 90024-1771.
Exp Eye Res. 1990 Aug;51(2):185-9. doi: 10.1016/0014-4835(90)90071-2.
In the inherited degenerative retinal disease of the rd mouse, rod cGMP levels rise above normal due to depressed cGMP-phosphodiesterase (cGMP-PDE) function a few days before degeneration begins. The subnormal activity of the cGMP-PDE may be due to a lesion in the enzyme itself, or in any of several proteins that regulate it. We have used a bovine cDNA for the alpha-subunit of cGMP-PDE to map its gene Pdea to mouse chromosome 18 at a distance of 21 centimorgans (cM) from the Mbp locus. Since the locus of the rd mutation is on mouse chromosome 5, a defect in the Pdea gene is ruled out as the cause of this inherited retinal degeneration.
在rd小鼠的遗传性视网膜退行性疾病中，在退化开始前几天，由于环鸟苷酸磷酸二酯酶（cGMP-PDE）功能降低，视杆细胞中的cGMP水平高于正常水平。cGMP-PDE的活性低于正常水平可能是由于该酶本身或调节它的几种蛋白质中的任何一种存在缺陷。我们使用了牛cGMP-PDEα亚基的cDNA，将其基因Pdea定位到小鼠18号染色体上，距离Mbp基因座21厘摩（cM）。由于rd突变的基因座位于小鼠5号染色体上，因此排除了Pdea基因缺陷是这种遗传性视网膜退化原因的可能性。
