Molecular mechanisms responsible for the genetic instability of DNA trinucleotide sequences (TRS) account for at least 20 human hereditary disorders. Many aspects of DNA metabolism influence the frequency of length changes in such repeats. Herein, we demonstrate that expression of Escherichia coli SOS repair proteins dramatically decreases the genetic stability of long (CTG/CAG)n tracts contained in plasmids. Furthermore, the growth characteristics of the bacteria are affected by the (CTG/CAG)n tract, with the effect dependent on the length of the TRS. In an E. coli host strain with constitutive expression of the SOS regulon, the frequency of deletions to the repeat is substantially higher than that in a strain with no SOS response. Analyses of the topology of reporter plasmids isolated from the SOS+ and SOS- strains revealed higher levels of negative supercoiling in strains with the constitutively expressed SOS network. Hence, we used strains with mutations in topoisomerases to examine the effect of DNA topology upon the TRS instability. Higher levels of negative DNA supercoiling correlated with increased deletions in long (CTG/CAG)n, (CGG/CCG)n and (GAA/TTC)n. These observations suggest a link between the induction of bacterial SOS repair, changes in DNA topology and the mechanisms leading to genetic instability of repetitive DNA sequences.

译文

:造成DNA三核苷酸序列(TRS)遗传不稳定性的分子机制至少导致了20种人类遗传性疾病。 DNA代谢的许多方面都会影响此类重复序列长度变化的频率。在本文中,我们证明了大肠杆菌SOS修复蛋白的表达显着降低了质粒中长(CTG / CAG)n片段的遗传稳定性。此外,细菌的生长特性受到(CTG / CAG)n束的影响,其效果取决于TRS的长度。在具有SOS调节子组成型表达的大肠杆菌宿主菌株中,重复序列的缺失频率明显高于无SOS应答的菌株。从SOS和SOS菌株中分离的报告质粒的拓扑分析表明,在具有组成型表达SOS网络的菌株中,负超螺旋水平更高。因此,我们使用在拓扑异构酶中具有突变的菌株来研究DNA拓扑对TRS不稳定性的影响。负DNA超螺旋的较高水平与长(CTG / CAG)n,(CGG / CCG)n和(GAA / TTC)n中缺失的增加相关。这些观察结果表明诱导细菌SOS修复,DNA拓扑结构变化与导致重复DNA序列遗传不稳定的机制之间存在联系。

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