Unit "Responses to DNA Lesions", Institute of Toxicology, University Medical Center of the Johannes Gutenberg University Mainz, Obere Zahlbacher Str. 67, 55131 Mainz, Germany.
Novosibirsk State University, 1 Pirogova St., 630090 Novosibirsk, Russia.
Biomolecules. 2020 Jun 13;10(6):902. doi: 10.3390/biom10060902.
The sustainment of replication and transcription of damaged DNA is essential for cell survival under genotoxic stress; however, the damage tolerance of these key cellular functions comes at the expense of fidelity. Thus, translesion DNA synthesis (TLS) over damaged nucleotides is a major source of point mutations found in cancers; whereas erroneous bypass of damage by RNA polymerases may contribute to cancer and other diseases by driving accumulation of proteins with aberrant structure and function in a process termed "transcriptional mutagenesis" (TM). Here, we aimed at the generation of reporters suited for direct detection of miscoding capacities of defined types of DNA modifications during translesion DNA or RNA synthesis in human cells. We performed a systematic phenotypic screen of 25 non-synonymous base substitutions in a DNA sequence encoding a functionally important region of the enhanced green fluorescent protein (EGFP). This led to the identification of four loss-of-fluorescence mutants, in which any ulterior base substitution at the nucleotide affected by the primary mutation leads to the reversal to a functional EGFP. Finally, we incorporated highly mutagenic abasic DNA lesions at the positions of primary mutations and demonstrated a high sensitivity of detection of the mutagenic DNA TLS and TM in this system.
维持受损 DNA 的复制和转录对于细胞在遗传毒性应激下的存活至关重要;然而,这些关键细胞功能的损伤容忍是以保真度为代价的。因此,跨损伤 DNA 合成(TLS)越过受损核苷酸是癌症中发现的点突变的主要来源;而 RNA 聚合酶错误地绕过损伤可能通过驱动具有异常结构和功能的蛋白质在称为“转录诱变”(TM)的过程中积累,从而导致癌症和其他疾病。在这里,我们旨在生成报告者,适合直接检测在人类细胞中的跨损伤 DNA 或 RNA 合成过程中特定类型的 DNA 修饰的误码能力。我们对编码增强型绿色荧光蛋白(EGFP)功能重要区域的 DNA 序列中的 25 个非同义碱基取代进行了系统的表型筛选。这导致了四个荧光丧失突变体的鉴定,其中在受主要突变影响的核苷酸上的任何进一步碱基取代导致功能 EGFP 的逆转。最后,我们在主要突变位置掺入了高度诱变的无碱基 DNA 损伤,并在该系统中证明了对诱变 DNA TLS 和 TM 的高检测灵敏度。