Saini Natalie, Roberts Steven A, Sterling Joan F, Malc Ewa P, Mieczkowski Piotr A, Gordenin Dmitry A
Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, US National Institutes of Health, Research Triangle Park, NC, USA.
School of Molecular Biosciences, Washington State University, Pullman, WA, USA.
DNA Repair (Amst). 2017 May;53:4-14. doi: 10.1016/j.dnarep.2017.03.003. Epub 2017 Mar 21.
Variations in mutation rates across the genome have been demonstrated both in model organisms and in cancers. This phenomenon is largely driven by the damage specificity of diverse mutagens and the differences in DNA repair efficiency in given genomic contexts. Here, we demonstrate that the single-strand DNA-specific cytidine deaminase APOBEC3B (A3B) damages tRNA genes at a 1000-fold higher efficiency than other non-tRNA genomic regions in budding yeast. We found that A3B-induced lesions in tRNA genes were predominantly located on the non-transcribed strand, while no transcriptional strand bias was observed in protein coding genes. Furthermore, tRNA gene mutations were exacerbated in cells where RNaseH expression was completely abolished (Δrnh1Δrnh35). These data suggest a transcription-dependent mechanism for A3B-induced tRNA gene hypermutation. Interestingly, in strains proficient in DNA repair, only 1% of the abasic sites formed upon excision of A3B-deaminated cytosines were not repaired leading to mutations in tRNA genes, while 18% of these lesions failed to be repaired in the remainder of the genome. A3B-induced mutagenesis in tRNA genes was found to be efficiently suppressed by the redundant activities of both base excision repair (BER) and the error-free DNA damage bypass pathway. On the other hand, deficiencies in BER did not have a profound effect on A3B-induced mutations in CAN1, the reporter for protein coding genes. We hypothesize that differences in the mechanisms underlying ssDNA formation at tRNA genes and other genomic loci are the key determinants of the choice of the repair pathways and consequently the efficiency of DNA damage repair in these regions. Overall, our results indicate that tRNA genes are highly susceptible to ssDNA-specific DNA damaging agents. However, increased DNA repair efficacy in tRNA genes can prevent their hypermutation and maintain both genome and proteome homeostasis.
在模式生物和癌症中均已证明全基因组突变率存在差异。这种现象在很大程度上是由多种诱变剂的损伤特异性以及特定基因组环境中DNA修复效率的差异所驱动的。在此,我们证明单链DNA特异性胞苷脱氨酶APOBEC3B(A3B)在芽殖酵母中对tRNA基因的损伤效率比对其他非tRNA基因组区域高1000倍。我们发现A3B诱导的tRNA基因突变主要位于非转录链上,而在蛋白质编码基因中未观察到转录链偏向性。此外,在RNaseH表达完全缺失(Δrnh1Δrnh35)的细胞中,tRNA基因突变加剧。这些数据表明A3B诱导的tRNA基因超突变存在转录依赖性机制。有趣的是,在DNA修复能力强的菌株中,切除A3B脱氨基胞嘧啶后形成的无碱基位点只有1%未被修复从而导致tRNA基因突变,而在基因组的其余部分,这些损伤中有18%未能被修复。发现碱基切除修复(BER)和无差错DNA损伤旁路途径的冗余活性可有效抑制A3B诱导的tRNA基因突变。另一方面,BER缺陷对A3B诱导的蛋白质编码基因报告基因CAN1的突变没有深远影响。我们推测tRNA基因和其他基因组位点单链DNA形成机制的差异是修复途径选择的关键决定因素,因此也是这些区域DNA损伤修复效率的关键决定因素。总体而言,我们的结果表明tRNA基因对单链DNA特异性DNA损伤剂高度敏感。然而,tRNA基因中DNA修复效率的提高可以防止其超突变并维持基因组和蛋白质组的稳态。