Rasmussen L J, Rasmussen M, Lee B, Rasmussen A K, Wilson D M, Nielsen F C, Bisgaard H C
Department of Life Sciences and Chemistry, Roskilde University, DK-4000, Roskilde, Denmark.
Mutat Res. 2000 Jun 30;460(1):41-52. doi: 10.1016/s0921-8777(00)00012-4.
Mutations in DNA mismatch repair (MMR) genes have been shown to segregate with Hereditary Nonpolyposis Colorectal Cancer (HNPCC). However, because many HNPCC families fail to display mutations in known MMR genes, we argued that changes in other components of the MMR pathway may be responsible. The increasing number of proteins reported to interact in the MMR pathway suggests that larger complexes are formed, the composition of which may differ among cell types and tissues. In an attempt to identify tissue-specific MMR-associated factors, we employed the yeast two-hybrid system, using the human hMSH2 as bait and a human fetal liver library as prey. We demonstrate that hMSH2 interacts with a human 5'-3' exonuclease 1 (hEXO1/HEX1) and that this interaction is mediated through their C-terminal domains. The hMSH6 protein does not interact with hEXO1 in the two-hybrid system. Dot-blot analysis of multiple tissue RNA revealed that hMSH2 and hEXO1 are coexpressed at high levels in fetal liver as well as in adult testis and thymus. Northern blot analysis also revealed that hEXO1/HEX1 is highly expressed in several liver cancer cell lines as well as in colon and pancreas adenocarcinomas, but not in the corresponding non-neoplastic tissue.
DNA错配修复(MMR)基因的突变已被证明与遗传性非息肉病性结直肠癌(HNPCC)相关。然而,由于许多HNPCC家族在已知的MMR基因中未显示出突变,我们认为MMR途径中其他成分的变化可能是原因所在。越来越多报道称在MMR途径中相互作用的蛋白质表明形成了更大的复合物,其组成可能因细胞类型和组织而异。为了鉴定组织特异性的MMR相关因子,我们采用酵母双杂交系统,用人hMSH2作为诱饵,用人胎儿肝脏文库作为猎物。我们证明hMSH2与人5'-3'核酸外切酶1(hEXO1/HEX1)相互作用,并且这种相互作用是通过它们的C末端结构域介导的。在双杂交系统中,hMSH6蛋白不与hEXO1相互作用。对多种组织RNA的斑点印迹分析显示,hMSH2和hEXO1在胎儿肝脏以及成人睾丸和胸腺中高水平共表达。Northern印迹分析还显示,hEXO1/HEX1在几种肝癌细胞系以及结肠和胰腺腺癌中高表达,但在相应的非肿瘤组织中不表达。