Drake J W, Baltz R H
Annu Rev Biochem. 1976;45:11-37. doi: 10.1146/annurev.bi.45.070176.000303.
Mutagenesis has remained an intriguing aspect of genetics since the beginning of this century, and its analysis has proceeded hand in hand with the elucidation of gene replication and expression. Interest in this area has further heightened with the growing awareness that numerous environmental agents may cause mutations in humans. These mutations may lead to metabolic as well as neoplastic diseases. Advances during the past 15 years have revealed two major classes of mutagenic mechanisms: directly induced base mispairing, and misrepair. Alkylating agents for instance, generate many different reaction products in DNA, but only two of these (O6-alkylguanine and O4-alkylthymine) are likely candidates for directly induced mispairing. He has also turned out to be an important mutagen, one that presents a particular serious challenge to large genomes; it converts cytosine to uracil and guanine to an analogue of cytosine. DNA lesions that interrupt DNA chain elongation, including many of other products of alkylation, often trigger an error-prone postreplication repair process. Current evidence suggests that this process involves in incorrect insertion of bases into gaps in progeny-strand DNA opposite such a lesion. Mutagenic mechanisms are subject to powerful genetic controls that include the activities of DNA polymerases in the selection of deoxynucleoside triphosphates and the removal of incorrectly inserted nucleotides.
自本世纪初以来,诱变一直是遗传学中一个引人入胜的方面,对其分析一直与基因复制和表达的阐明同步进行。随着人们越来越意识到许多环境因素可能导致人类突变,对这一领域的兴趣进一步增强。这些突变可能导致代谢疾病以及肿瘤疾病。过去15年的进展揭示了两类主要的诱变机制:直接诱导碱基错配和错配修复。例如,烷化剂在DNA中产生许多不同的反应产物,但其中只有两种(O6-烷基鸟嘌呤和O4-烷基胸腺嘧啶)可能是直接诱导错配的候选物。它也被证明是一种重要的诱变剂,对大型基因组构成特别严峻的挑战;它将胞嘧啶转化为尿嘧啶,将鸟嘌呤转化为胞嘧啶的类似物。中断DNA链延伸的DNA损伤,包括许多其他烷基化产物,通常会触发易出错的复制后修复过程。目前的证据表明,这一过程涉及在子代链DNA中与这种损伤相对的缺口处错误地插入碱基。诱变机制受到强大的遗传控制,包括DNA聚合酶在选择脱氧核苷三磷酸和去除错误插入的核苷酸方面的活性。