Sassa Akira, Yasui Manabu, Honma Masamitsu
1Department of Biology, Graduate School of Science, Chiba University, Chiba, 263-8522 Japan.
2Division of Genetics and Mutagenesis, National Institute of Health Sciences, 3-25-26 Tonomachi, Kawasaki-ku, Kawasaki 210-9501 Japan.
Genes Environ. 2019 Jan 25;41:3. doi: 10.1186/s41021-019-0118-7. eCollection 2019.
Ribonucleotides, which are RNA precursors, are often incorporated into DNA during replication. Although embedded ribonucleotides in the genome are efficiently removed by canonical ribonucleotide excision repair (RER), inactivation of RER causes genomic ribonucleotide accumulation, leading to various abnormalities in cells. Mutation of genes encoding factors involved in RER is associated with the neuroinflammatory autoimmune disorder Aicardi-Goutières syndrome. Over the last decade, the biological impact of ribonucleotides in the genome has attracted much attention. In the present review, we particularly focus on recent studies that have elucidated possible mechanisms of ribonucleotide incorporation and repair and their significance in mammals.
核糖核苷酸作为RNA的前体，在复制过程中常常掺入DNA中。尽管基因组中嵌入的核糖核苷酸可通过经典的核糖核苷酸切除修复（RER）有效去除，但RER的失活会导致基因组核糖核苷酸积累，进而引发细胞中的各种异常。编码参与RER的因子的基因突变与神经炎性自身免疫性疾病Aicardi-Goutières综合征相关。在过去十年中，基因组中核糖核苷酸的生物学影响备受关注。在本综述中，我们特别关注近期阐明核糖核苷酸掺入和修复可能机制及其在哺乳动物中的意义的研究。
