Rapić Otrin V, Kuraoka I, Nardo T, McLenigan M, Eker A P, Stefanini M, Levine A S, Wood R D
Section on DNA Replication, Repair, and Mutagenesis, National Institute of Child Health and Human Development, Bethesda, Maryland 20892-2725, USA.
Mol Cell Biol. 1998 Jun;18(6):3182-90. doi: 10.1128/MCB.18.6.3182.
Cells from complementation groups A through G of the heritable sun-sensitive disorder xeroderma pigmentosum (XP) show defects in nucleotide excision repair of damaged DNA. Proteins representing groups A, B, C, D, F, and G are subunits of the core recognition and incision machinery of repair. XP group E (XP-E) is the mildest form of the disorder, and cells generally show about 50% of the normal repair level. We investigated two protein factors previously implicated in the XP-E defect, UV-damaged DNA binding protein (UV-DDB) and replication protein A (RPA). Three newly identified XP-E cell lines (XP23PV, XP25PV, and a line formerly classified as an XP variant) were defective in UV-DDB binding activity but had levels of RPA in the normal range. The XP-E cell extracts did not display a significant nucleotide excision repair defect in vitro, with either UV-irradiated DNA or a uniquely placed cisplatin lesion used as a substrate. Purified UV-DDB protein did not stimulate repair of naked DNA by DDB- XP-E cell extracts, but microinjection of the protein into DDB- XP-E cells could partially correct the repair defect. RPA stimulated repair in normal, XP-E, or complemented extracts from other XP groups, and so the effect of RPA was not specific for XP-E cell extracts. These data strengthen the connection between XP-E and UV-DDB. Coupled with previous results, the findings suggest that UV-DDB has a role in the repair of DNA in chromatin.
遗传性日光敏感疾病着色性干皮病(XP)的A至G互补组细胞在受损DNA的核苷酸切除修复方面存在缺陷。代表A、B、C、D、F和G组的蛋白质是修复的核心识别和切割机制的亚基。XP-E组是该疾病最轻微的形式,细胞通常显示出约50%的正常修复水平。我们研究了之前与XP-E缺陷相关的两种蛋白质因子,即紫外线损伤DNA结合蛋白(UV-DDB)和复制蛋白A(RPA)。三个新鉴定的XP-E细胞系(XP23PV、XP25PV和一个以前归类为XP变异体的细胞系)在UV-DDB结合活性方面存在缺陷,但RPA水平在正常范围内。XP-E细胞提取物在体外对紫外线照射的DNA或独特定位的顺铂损伤作为底物时,未显示出明显的核苷酸切除修复缺陷。纯化的UV-DDB蛋白不能刺激DDB-XP-E细胞提取物对裸露DNA的修复,但将该蛋白显微注射到DDB-XP-E细胞中可部分纠正修复缺陷。RPA在正常、XP-E或其他XP组的互补提取物中均能刺激修复,因此RPA的作用并非对XP-E细胞提取物具有特异性。这些数据加强了XP-E与UV-DDB之间的联系。结合之前的结果,这些发现表明UV-DDB在染色质中DNA的修复中起作用。