MUTATIONS IN THE HUMAN RETINAL DEGENERATION SLOW (RDS) GENE CAN CAUSE EITHER RETINITIS-PIGMENTOSA OR MACULAR DYSTROPHY
MUTATIONS IN THE HUMAN RETINAL DEGENERATION SLOW (RDS) GENE CAN CAUSE EITHER RETINITIS-PIGMENTOSA OR MACULAR DYSTROPHY
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DOI：
10.1038/ng0393-213
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发表时间：
1993-03-01
期刊：
影响因子：
30.8
通讯作者：
BIRD, A
中科院分区：
文献类型：
--
作者：
WELLS, J;WROBLEWSKI, J;BIRD, A
在常染色体显性视网膜营养不良的家族中寻找编码感光细胞糖蛋白外周蛋白的RDS基因突变。在一个病例中，密码子118/119处的半胱氨酸缺失与视网膜色素变性相关。三个家族有类似的黄斑营养不良的突变密码子172，精氨酸被取代色氨酸在两个和谷氨酰胺。一个卵黄状黄斑营养不良家系存在258位密码子终止序列。这些研究结果表明，视网膜色素变性和黄斑营养不良是由RDS突变引起的，外周蛋白RDS中某些氨基酸的功能意义在视锥细胞和视杆细胞中可能不同。
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.