de Laat W L, Sijbers A M, Odijk H, Jaspers N G, Hoeijmakers J H
Department of Cell Biology and Genetics, Medical Genetics Centre, Erasmus University, PO Box 1738,3000 DR Rotterdam, The Netherlands.
Nucleic Acids Res. 1998 Sep 15;26(18):4146-52. doi: 10.1093/nar/26.18.4146.
ERCC1-XPF is a heterodimeric protein complexinvolved in nucleotide excision repair and recombinational processes. Like its homologous complex in Saccharomyces cerevisiae , Rad10-Rad1, it acts as a structure-specific DNA endonuclease, cleaving at duplex-single-stranded DNA junctions. In repair, ERCC1-XPF and Rad10-Rad1 make an incision on the the 5'-side of the lesion. No humans with a defect in the ERCC1 subunit of this protein complex have been identified and ERCC1-deficient mice suffer from severe developmental problems and signs of premature aging on top of a repair-deficient phenotype. Xeroderma pigmentosum group F patients carry mutations in the XPF subunit and generally show the clinical symptoms of mild DNA repair deficiency. All XP-F patients examined demonstrate reduced levels of XPF and ERCC1 protein, suggesting that proper complex formation is required for stability of the two proteins. To better understand the molecular and clinical consequences of mutations in the ERCC1-XPF complex, we decided to map the interaction domains between the two subunits. The XPF-binding domain comprises C-terminal residues 224-297 of ERCC1. Intriguingly, this domain resides outside the region of homology with its yeast Rad10 counterpart. The ERCC1-binding domain in XPF maps to C-terminal residues 814-905. ERCC1-XPF complex formation is established by a direct interaction between these two binding domains. A mutation from an XP-F patient that alters the ERCC1-binding domain in XPF indeed affects complex formation with ERCC1.
ERCC1-XPF是一种参与核苷酸切除修复和重组过程的异二聚体蛋白复合物。与其在酿酒酵母中的同源复合物Rad10-Rad1一样,它作为一种结构特异性DNA内切酶,在双链-单链DNA连接处切割。在修复过程中,ERCC1-XPF和Rad10-Rad1在损伤的5'侧进行切割。尚未发现该蛋白复合物的ERCC1亚基有缺陷的人类,而ERCC1缺陷的小鼠除了有修复缺陷表型外,还患有严重的发育问题和早衰迹象。着色性干皮病F组患者的XPF亚基发生突变,通常表现出轻度DNA修复缺陷的临床症状。所有接受检查的XP-F患者均显示XPF和ERCC1蛋白水平降低,这表明正确的复合物形成是这两种蛋白稳定性所必需的。为了更好地理解ERCC1-XPF复合物突变的分子和临床后果,我们决定绘制这两个亚基之间的相互作用域。XPF结合域包括ERCC1的C末端残基224-297。有趣的是,该结构域位于与其酵母Rad10对应物的同源区域之外。XPF中的ERCC1结合域定位于C末端残基814-905。ERCC1-XPF复合物的形成是由这两个结合域之间的直接相互作用建立的。一名XP-F患者的突变改变了XPF中的ERCC1结合域,确实影响了与ERCC1的复合物形成。