Spivak Graciela
Department of Biological Sciences, Stanford University, Stanford, CA 94305-5020, USA.
Mutat Res. 2005 Sep 4;577(1-2):162-9. doi: 10.1016/j.mrfmmm.2005.03.017.
UV-sensitive syndrome (UV(S)S) is a human DNA repair-deficiency disorder with mild clinical manifestations. In contrast to other disorders with photosensitivity, no neurological or developmental abnormalities and no predisposition to cancer have been reported. The cellular and biochemical responses of UV(S)S and Cockayne syndrome (CS) cells to UV light are indistinguishable, and result from defective transcription-coupled repair of photoproducts in expressed genes [G. Spivak, T. Itoh, T. Matsunaga, O. Nikaido, P. Hanawalt, M. Yamaizumi, Ultra violet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers, DNA Repair, 1, 2002, 629-643]. The severe neurological and developmental deficiency characteristic of CS may arise from unresolved blockage of transcription at oxidative DNA lesions, which could result in excessive cell death and/or attenuated transcription. We have proposed that individuals with UV(S)S develop normally because they are proficient in repair of oxidative base damage or in transcriptional bypass of these lesions; consistent with this hypothesis, CS-B cells, but not UV(S)S cells, are deficient in host cell reactivation of plasmids containing oxidative base lesions [G. Spivak, P. Hanawalt, Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome, 2005, submitted for publication]. In this review, I will summarize the current understanding of the UV-sensitive syndrome and compare it with the Cockayne syndrome.
紫外线敏感综合征（UV(S)S）是一种临床表现轻微的人类DNA修复缺陷疾病。与其他光敏性疾病不同，尚未有神经或发育异常以及患癌倾向的报道。UV(S)S细胞和科凯恩综合征（CS）细胞对紫外线的细胞和生化反应无法区分，这是由于表达基因中光产物的转录偶联修复存在缺陷所致[G. 斯皮瓦克、T. 伊藤、T. 松永、O. 二阶堂、P. 哈纳瓦特、M. 山内，紫外线敏感综合征细胞在环丁烷嘧啶二聚体的转录偶联修复中存在缺陷，《DNA修复》，第1卷，2002年，第629 - 643页]。CS所特有的严重神经和发育缺陷可能源于氧化DNA损伤处转录的未解决阻滞，这可能导致过度的细胞死亡和/或转录减弱。我们提出，患有UV(S)S的个体发育正常是因为他们在氧化碱基损伤的修复或这些损伤的转录绕过方面表现 proficient；与这一假设一致的是，含有氧化碱基损伤的质粒的宿主细胞再激活在CS - B细胞中存在缺陷，但在UV(S)S细胞中正常[G. 斯皮瓦克、P. 哈纳瓦特，含有氧化DNA损伤的质粒的宿主细胞再激活在科凯恩综合征中存在缺陷，但在紫外线敏感综合征中正常，2005年，待发表]。在这篇综述中，我将总结目前对紫外线敏感综合征的认识，并将其与科凯恩综合征进行比较。 （注：原文中“proficient”未翻译完整，可能是输入有误，根据语境推测完整意思为“熟练、精通”，这里按推测补全翻译，但不确定是否符合原文准确意图）
