The XPG story

The XPG story
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DOI:
10.1016/j.biochi.2003.10.014
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发表时间:
2003-11-01
期刊:
影响因子:
3.9
通讯作者:
Clarkson, SG
Clarkson, SG
中科院分区:
生物学3区
文献类型:
--
作者:
Clarkson, SG

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我提供了一个个人帐户的发现,克隆和功能分析的人类XPG基因。该基因的突变可引起G型着色性干皮病(XP),在某些情况下,可引起严重的早发性Cockayne综合征(CS)。XPG蛋白在核苷酸切除修复(NER)中具有明确的催化和结构作用,并且它作为DNA糖基化酶的辅因子,从DNA中去除氧化的嘧啶。XPG也可能参与这种损伤的转录偶联修复,参与RNA聚合酶II的转录,也可能参与其他过程。我们目前对这种重要蛋白质的了解主要基于一些优秀的,高度集中的科学。但好运、意外发现和科学丑闻也为这个未完成的故事做出了重大贡献。(C)2003年,Elsevier SAS。All rights reserved.
I provide a personal account of the discovery, cloning and functional analyses of the human XPG gene. Mutations in this gene can give rise to the group G form of xeroderma pigmentosum (XP) and, in some cases, to severe early onset Cockayne syndrome (CS). The XPG protein has well established catalytic and structural roles in nucleotide excision repair (NER) and it acts as a cofactor for a DNA glycosylase that removes oxidised pyrimidines from DNA. XPG may also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too. Our current knowledge of this important protein is largely based on some excellent, highly focussed science. But good luck, serendipity and scientific scandal have also made major contributions to this unfinished story. (C) 2003 Elsevier SAS. All rights reserved.