RECESSIVE MUTATIONS IN THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE IN PATIENTS WITH RETINITIS-PIGMENTOSA
RECESSIVE MUTATIONS IN THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE IN PATIENTS WITH RETINITIS-PIGMENTOSA
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DOI：
10.1038/ng0693-130
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发表时间：
1993-06-01
期刊：
影响因子：
30.8
通讯作者：
DRYJA, TP
中科院分区：
文献类型：
--
作者：
MCLAUGHLIN, ME;SANDBERG, MA;DRYJA, TP
我们已经在编码视杆cGMP磷酸二酯酶（PDE β）β亚基的人类基因中发现了四个突变，这些突变与常染色体隐性视网膜色素变性（一种光感受器退行性疾病）共分离。在一个家庭中，两个受影响的兄弟姐妹都携带密码子298和531的等位基因无义突变。受影响的个体有异常的视杆和视锥视网膜电图。PDE β是除了视紫红质之外的光转导级联的第二个成员，其作为视网膜色素变性的原因而缺失或改变，这表明该途径的其他成员可能在该疾病的其他形式中有缺陷。
We have found four mutations in the human gene encoding the beta-subunit of rod cGMP phosphodiesterase (PDE beta) that cosegregate with autosomal recessive retinitis pigmentosa, a degenerative disease of photoreceptors. In one family two affected siblings both carry allelic nonsense mutations at codons 298 and 531. Affected individuals have abnormal rod and cone electroretinograms. PDE beta is the second member of the phototransduction cascade besides rhodopsin that is absent or altered as a cause of retinitis pigmentosa, suggesting that other members of this pathway may be defective in other forms of this disease.