Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F
Department of Clinical Ophthalmology, Moorfields Eye Hospital, London, UK.
Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213.
Mutations in the RDS gene, which encodes the photoreceptor glycoprotein peripherin, have been sought in families with autosomal dominant retinal dystrophies. A cysteine deletion at codon 118/119 is associated with retinitis pigmentosa in one. Three families with similar macular dystrophy have mutations at codon 172, arginine being substituted by tryptophan in two and by glutamine in one. A stop sequence at codon 258 exists in a family with adult vitelliform macular dystrophy. These findings demonstrate that both retinitis pigmentosa and macular dystrophies are caused by mutations in RDS and that the functional significance of certain amino-acids in peripherin-RDS may be different in cones and rods.
在患有常染色体显性视网膜营养不良的家族中，人们一直在寻找编码光感受器糖蛋白外周蛋白的RDS基因的突变情况。一个家族中，第118/119密码子处的半胱氨酸缺失与色素性视网膜炎有关。三个患有类似黄斑营养不良的家族在第172密码子处存在突变，其中两个家族的精氨酸被色氨酸取代，另一个家族的精氨酸被谷氨酰胺取代。在一个患有成人卵黄状黄斑营养不良的家族中，第258密码子处存在一个终止序列。这些发现表明，色素性视网膜炎和黄斑营养不良均由RDS基因突变引起，并且外周蛋白-RDS中某些氨基酸在视锥细胞和视杆细胞中的功能意义可能有所不同。
