Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects
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DOI：
10.1016/j.visres.2006.08.018
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发表时间：
2006-12-01
期刊：
影响因子：
1.8
通讯作者：
Klein-Seetharaman, Judith
中科院分区：
文献类型：
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作者：
Iannaccone, Alessandro;Man, David;Klein-Seetharaman, Judith
相似的视网膜色素变性（RP）表型可由影响不同视紫红质区域的突变引起，并且不同的氨基酸取代可引起不同的RP严重程度和进展速率。具体而言，R135L和R135W突变（H3的胞质末端）均导致弥漫性严重疾病（A类），但R135W导致比R135L更严重且进展更快的RP。P180A和G188R突变（第二椎间盘内环）分别表现为轻度表型，具有区域变异性（B1类）和中度弥漫性疾病（B2类）。这些突变体的计算和体外研究提供了这种表型变异的分子见解。(c)2006爱思唯尔有限公司保留所有权利。
Similar retinitis pigmentosa (RP) phenotypes can result from mutations affecting different rhodopsin regions, and distinct amino acid substitutions can cause different RP severity and progression rates. Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. The P180A and G188R mutations (second intradiscal loop) exhibit a mild phenotype with regional variability (class B1) and diffuse disease of moderate severity (class B2), respectively. Computational and in vitro studies of these mutants provide molecular insights into this phenotypic variability. (c) 2006 Elsevier Ltd. All rights reserved.