Department of Clinical Molecular Biology, Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway.
Section of Clinical Molecular Biology (EpiGen), Akershus University Hospital, 1478 Lørenskog, Norway.
Int J Mol Sci. 2023 Jun 18;24(12):10307. doi: 10.3390/ijms241210307.
Chemically modified nucleic acid bases are sources of genomic instability and mutations but may also regulate gene expression as epigenetic or epitranscriptomic modifications. Depending on the cellular context, they can have vastly diverse impacts on cells, from mutagenesis or cytotoxicity to changing cell fate by regulating chromatin organisation and gene expression. Identical chemical modifications exerting different functions pose a challenge for the cell's DNA repair machinery, as it needs to accurately distinguish between epigenetic marks and DNA damage to ensure proper repair and maintenance of (epi)genomic integrity. The specificity and selectivity of the recognition of these modified bases relies on DNA glycosylases, which acts as DNA damage, or more correctly, as modified bases sensors for the base excision repair (BER) pathway. Here, we will illustrate this duality by summarizing the role of uracil-DNA glycosylases, with particular attention to SMUG1, in the regulation of the epigenetic landscape as active regulators of gene expression and chromatin remodelling. We will also describe how epigenetic marks, with a special focus on 5-hydroxymethyluracil, can affect the damage susceptibility of nucleic acids and conversely how DNA damage can induce changes in the epigenetic landscape by altering the pattern of DNA methylation and chromatin structure.
化学修饰的核酸碱基是基因组不稳定性和突变的来源,但也可能作为表观遗传或转录后修饰来调节基因表达。根据细胞环境的不同,它们对细胞的影响可能大不相同,从诱变或细胞毒性到通过调节染色质组织和基因表达改变细胞命运。发挥不同功能的相同化学修饰给细胞的 DNA 修复机制带来了挑战,因为它需要准确地区分表观遗传标记和 DNA 损伤,以确保(表观)基因组完整性的适当修复和维持。这些修饰碱基的特异性和选择性识别依赖于 DNA 糖苷酶,它作为 DNA 损伤,或者更准确地说,作为碱基切除修复 (BER) 途径的修饰碱基传感器发挥作用。在这里,我们将通过总结尿嘧啶 DNA 糖苷酶的作用来说明这种双重性,特别关注 SMUG1 在作为基因表达和染色质重塑的活跃调节剂的表观遗传景观调节中的作用。我们还将描述表观遗传标记(特别关注 5-羟甲基尿嘧啶)如何影响核酸的损伤易感性,以及反过来 DNA 损伤如何通过改变 DNA 甲基化和染色质结构模式来诱导表观遗传景观的变化。