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Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications.
Mutation Research/Reviews in Mutation Research ( IF 5.3 ) Pub Date : 2015-03-22 , DOI: 10.1016/j.mrrev.2014.12.002
Bruno César Feltes 1 , Diego Bonatto 1
Affiliation  

The xeroderma pigmentosum complementation group proteins (XPs), which include XPA through XPG, play a critical role in coordinating and promoting global genome and transcription-coupled nucleotide excision repair (GG-NER and TC-NER, respectively) pathways in eukaryotic cells. GG-NER and TC-NER are both required for the repair of bulky DNA lesions, such as those induced by UV radiation. Mutations in genes that encode XPs lead to the clinical condition xeroderma pigmentosum (XP). Although the roles of XPs in the GG-NER/TC-NER subpathways have been extensively studied, complete knowledge of their three-dimensional structure is only beginning to emerge. Hence, this review aims to summarize the current knowledge of mapped mutations and other structural information on XP proteins that influence their function and protein-protein interactions. We also review the possible post-translational modifications for each protein and the impact of these modifications on XP protein functions.

中文翻译:

皮肤干燥色素蛋白蛋白质结构,突变和翻译后修饰的概述。

包括XPA到XPG的干性色素干补充蛋白(XPs)在协调和促进真核细胞中的整体基因组和转录偶联核苷酸切除修复(分别为GG-NER和TC-NER)途径中起着关键作用。GG-NER和TC-NER都需要修复大体积的DNA损伤,例如紫外线辐射引起的损伤。编码XPs的基因中的突变会导致临床症状为色干性皮肤病(XP)。尽管已经广泛研究了XPs在GG-NER / TC-NER子路径中的作用,但是关于它们的三维结构的完整知识才刚刚开始出现。因此,本综述旨在总结影响蛋白质功能和蛋白质-蛋白质相互作用的XP蛋白质的映射突变和其他结构信息的当前知识。
更新日期:2019-11-01
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