Clarkson S G
Department of Genetics and Microbiology, University Medical Centre, 1, rue Michel-Servet, 1211 Geneva 4, Switzerland.
Biochimie. 2003 Nov;85(11):1113-21. doi: 10.1016/j.biochi.2003.10.014.
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.
我个人讲述了人类XPG基因的发现、克隆及功能分析过程。该基因的突变可导致色素性干皮病（XP）的G组型，在某些情况下还会引发严重的早发型科凯恩综合征（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，并且作为一种DNA糖基化酶的辅助因子，可从DNA中去除氧化的嘧啶。XPG可能还参与此类损伤的转录偶联修复、RNA聚合酶II的转录过程，或许还参与其他过程。我们目前对这种重要蛋白质的了解很大程度上基于一些出色的、高度集中的科学研究。但好运、机缘巧合和科学丑闻也对这个尚未完成的故事做出了重大贡献。
