重述着色性干皮病蛋白的结构特征:关注突变和知识空白。

IF 6.4 2区 医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Mutation Research-Reviews in Mutation Research Pub Date : 2022-01-01 DOI:10.1016/j.mrrev.2022.108416
Bruno César Feltes
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引用次数: 2

摘要

核苷酸切除修复途径是一种被广泛研究的DNA修复机制,因为其关键参与者,着色性干皮病蛋白(XPA至XPG)的损伤与多种遗传性疾病有关。由于这些蛋白质的大量新突变和每年发表的新结构数据,需要对相关观察进行适当的分类和讨论,以组织这些广泛的知识流入。这篇综述旨在回顾所有XP蛋白的结构数据,并与过去六年的信息更新。讨论和解释突变的结果,作用机制,和知识差距关于他们的结构,以及基于最新研究的新观点。
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Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps

The nucleotide excision repair pathway is a broadly studied DNA repair mechanism because impairments of its key players, the xeroderma pigmentosum proteins (XPA to XPG), are associated with multiple hereditary diseases. Due to the massive number of novel mutations reported for these proteins and new structural data published every year, proper categorization and discussion of relevant observations is needed to organize this extensive inflow of knowledge. This review aims to revisit the structural data of all XP proteins while updating it with the information developed in of the past six years. Discussions and interpretations of mutation outcomes, mechanisms of action, and knowledge gaps regarding their structures are provided, as well as new perspectives based on recent research.

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来源期刊
CiteScore
12.20
自引率
1.90%
发文量
22
审稿时长
15.7 weeks
期刊介绍: The subject areas of Reviews in Mutation Research encompass the entire spectrum of the science of mutation research and its applications, with particular emphasis on the relationship between mutation and disease. Thus this section will cover advances in human genome research (including evolving technologies for mutation detection and functional genomics) with applications in clinical genetics, gene therapy and health risk assessment for environmental agents of concern.
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