Maehara Yoshihiko, Egashira Akinori, Oki Eiji, Kakeji Yoshihiro, Tsuzuki Teruhisa
Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
Cancer Sci. 2008 Mar;99(3):451-8. doi: 10.1111/j.1349-7006.2007.00671.x.
The DNA repair system surveys the genome, which is always suffering from exposure to both exogenous as well as endogenous mutagens, to maintain the genetic information. The fact that the basis of this DNA repair system is highly conserved, from prokaryote to mammalian cells, suggests the importance of precise genome maintenance mechanisms for organisms. In the past 15 years, considerable progress has been made in understanding how repair processes interact and how disruptions of these mechanisms lead to the accumulation of mutations and carcinogenesis. In 1993, two groups reported that DNA mismatch repair could be associated with hereditary non-polyposis colorectal cancer, indicating a connection between faulty DNA repair function and cancer. More recently, an inherited disorder of DNA glycosylase, which removes mutagenic oxidized base from DNA, has been reported in individuals with a predisposition to multiple colorectal adenomas and carcinomas. This is the first report that directly indicates the role of the repair of oxidative DNA in human inherited cancer. Studies from gene knockout mice have elucidated the principal role of these repair systems in the process of carcinogenesis. Moreover, clinical samples derived from cancer patients have shown the direct involvement. This review focuses on the function of DNA mismatch repair and oxidative DNA/nucleotide repair among various DNA repair systems in cells, both of which are essentially involved in the carcinogenesis of gastrointestinal tract cancer.
DNA修复系统会对基因组进行监测,基因组总是会受到外源性和内源性诱变剂的影响,该系统以此来维持遗传信息。从原核生物到哺乳动物细胞,DNA修复系统的基础高度保守,这一事实表明精确的基因组维持机制对生物体至关重要。在过去15年里,在理解修复过程如何相互作用以及这些机制的破坏如何导致突变积累和致癌作用方面取得了相当大的进展。1993年,两个研究小组报告称,DNA错配修复可能与遗传性非息肉病性结直肠癌有关,这表明DNA修复功能缺陷与癌症之间存在联系。最近,在易患多发性结肠直肠腺瘤和癌的个体中,报道了一种DNA糖基化酶的遗传性疾病,这种酶能从DNA中去除诱变氧化碱基。这是第一份直接表明氧化性DNA修复在人类遗传性癌症中作用的报告。基因敲除小鼠的研究阐明了这些修复系统在致癌过程中的主要作用。此外,来自癌症患者的临床样本也显示了它们的直接参与。本综述重点关注细胞中各种DNA修复系统中的DNA错配修复以及氧化性DNA/核苷酸修复的功能,这两者都与胃肠道癌的致癌作用密切相关。