Mice with NOP2/sun RNA methyltransferase 5 deficiency die before reaching puberty due to fatal kidney damage

References

• Gao Y, Fang J. RNA 5-methylcytosine modification and its emerging role as an epitranscriptomic mark. RNA Biol. 2021;18(sup1):1–13. doi: 10.1080/15476286.2021.1950993.
   Google Scholar
• Trixl L, Lusser A. The dynamic RNA modification 5-methylcytosine and its emerging role as an epitranscriptomic mark. WIREs RNA. 2019;10(1):e1510. doi: 10.1002/wrna.1510.
   Google Scholar
• Breiling A, Lyko F. Epigenetic regulatory functions of DNA modifications: 5-methylcytosine and beyond. Epigenetics Chromatin. 2015;8:24.
   PubMed Web of Science ®Google Scholar
• Bohnsack KE, Höbartner C, Bohnsack MT. Eukaryotic 5-methylcytosine (m(5)C) RNA methyltransferases: mechanisms, cellular functions, and links to disease. Genes . 2019;10(2):102. doi: 10.3390/genes10020102.
   PubMed Web of Science ®Google Scholar
• Liu Y, Siejka-Zielińska P, Velikova G, et al. Bisulfite-free direct detection of 5-methylcytosine and 5-hydroxymethylcytosine at base resolution. Nat Biotechnol. 2019;37(4):424–429. doi: 10.1038/s41587-019-0041-2.
   PubMed Web of Science ®Google Scholar
• Chen YS, et al. Dynamic transcriptomic m(5) C and its regulatory role in RNA processing. Wiley Interdiscip Rev RNA. 2021;12(4):e1639.
   PubMed Web of Science ®Google Scholar
• Campbell EM, et al. Nucleolar protein NOP2/NSUN1 suppresses HIV-1 transcription and promotes viral latency by competing with tat for TAR binding and methylation. PLOS Pathog. 2020;16(3):e1008430. doi: 10.1371/journal.ppat.1008430.
   Web of Science ®Google Scholar
• Flores JV, Cordero-Espinoza L, Oeztuerk-Winder F, et al. Cytosine-5 RNA methylation regulates neural stem cell differentiation and motility. Stem Cell Reports. 2017;8(1):112–124. doi: 10.1016/j.stemcr.2016.11.014.
   PubMed Web of Science ®Google Scholar
• Squires JE, Patel HR, Nousch M, et al. Widespread occurrence of 5-methylcytosine in human coding and non-coding RNA. Nucleic Acids Res. 2012;40(11):5023–5033. doi: 10.1093/nar/gks144.
   PubMed Web of Science ®Google Scholar
• Chi L, Delgado-Olguin P. Expression of NOL1/NOP2/sun domain (nsun) RNA methyltransferase family genes in early mouse embryogenesis. Gene Expr Patterns. 2013;13(8):319–327. doi: 10.1016/j.gep.2013.06.003.
   PubMed Web of Science ®Google Scholar
• Bourgeois G, Ney M, Gaspar I, et al. Eukaryotic rRNA modification by yeast 5-methylcytosine-methyltransferases and human proliferation-associated antigen p120. PLOS One. 2015;10(7):e0133321. doi: 10.1371/journal.pone.0133321.
   PubMed Web of Science ®Google Scholar
• Sajini AA, Choudhury NR, Wagner RE, et al. Loss of 5-methylcytosine alters the biogenesis of vault-derived small RNAs to coordinate epidermal differentiation. Nat Commun. 2019;10(1):2550. doi: 10.1038/s41467-019-10020-7.
   PubMedGoogle Scholar
• Haag S, Sloan KE, Ranjan N, et al. NSUN3 and ABH1 modify the wobble position of mt-tRNAMet to expand codon recognition in mitochondrial translation. Embo J. 2016;35(19):2104–2119. doi: 10.15252/embj.201694885.
   PubMed Web of Science ®Google Scholar
• Trixl L, Amort T, Wille A, et al. RNA cytosine methyltransferase Nsun3 regulates embryonic stem cell differentiation by promoting mitochondrial activity. Cell Mol Life Sci. 2018;75(8):1483–1497. doi: 10.1007/s00018-017-2700-0.
   PubMed Web of Science ®Google Scholar
• Metodiev MD, Spåhr H, Loguercio Polosa P, et al. NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly. PLOS Genet. 2014;10(2):e1004110. doi: 10.1371/journal.pgen.1004110.
   PubMed Web of Science ®Google Scholar
• Li C, Wang S, Xing Z, et al. A ROR1-HER3-lncRNA signalling axis modulates the Hippo-YAP pathway to regulate bone metastasis. Nat Cell Biol. 2017;19(2):106–119. doi: 10.1038/ncb3464.
   PubMed Web of Science ®Google Scholar
• Ortiz-Barahona V, Soler M, Davalos V, et al. Epigenetic inactivation of the 5-methylcytosine RNA methyltransferase NSUN7 is associated with clinical outcome and therapeutic vulnerability in liver cancer. Mol Cancer. 2023;22(1):83. doi: 10.1186/s12943-023-01785-z.
   PubMed Web of Science ®Google Scholar
• Schosserer M, Minois N, Angerer TB, et al. Methylation of ribosomal RNA by NSUN5 is a conserved mechanism modulating organismal lifespan. Nat Commun. 2015;6(1):6158. doi: 10.1038/ncomms7158.
   PubMedGoogle Scholar
• Sharma S, Yang J, Watzinger P, et al. Yeast Nop2 and Rcm1 methylate C2870 and C2278 of the 25S rRNA, respectively. Nucleic Acids Res. 2013;41(19):9062–9076. doi: 10.1093/nar/gkt679.
   PubMed Web of Science ®Google Scholar
• Dominissini D, Rechavi G. 5-methylcytosine mediates nuclear export of mRNA. Cell Res. 2017;27(6):717–719. doi: 10.1038/cr.2017.73.
   PubMed Web of Science ®Google Scholar
• Zhang T, Chen P, Li W, et al. Cognitive deficits in mice lacking Nsun5, a cytosine-5 RNA methyltransferase, with impairment of oligodendrocyte precursor cells. Glia. 2019;67(4):688–702. doi: 10.1002/glia.23565.
   PubMed Web of Science ®Google Scholar
• Liu J, Ren Z, Yang L, et al. The NSUN5-FTH1/FTL pathway mediates ferroptosis in bone marrow-derived mesenchymal stem cells. Cell Death Discov. 2022;8(1):99. doi: 10.1038/s41420-022-00902-z.
   PubMed Web of Science ®Google Scholar
• Green MR, Sambrook J. Analysis and normalization of real-time polymerase chain reaction (PCR) experimental data. Cold Spring Harb Protoc. 2018;2018(10):769–777. doi: 10.1101/pdb.top095000.
   Google Scholar
• Yang X, Yang Y, Sun B-F, et al. 5-methylcytosine promotes mRNA export - NSUN2 as the methyltransferase and ALYREF as an m(5)C reader. Cell Res. 2017;27(5):606–625. doi: 10.1038/cr.2017.55.
   PubMed Web of Science ®Google Scholar
• Hussain S, Sajini AA, Blanco S, et al. NSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAs. Cell Rep. 2013;4(2):255–261. doi: 10.1016/j.celrep.2013.06.029.
   PubMed Web of Science ®Google Scholar
• Harris T, Marquez B, Suarez S, et al. Sperm motility defects and infertility in male mice with a mutation in Nsun7, a member of the sun domain-containing family of putative RNA methyltransferases. Biol Reprod. 2007;77(2):376–382. doi: 10.1095/biolreprod.106.058669.
   PubMed Web of Science ®Google Scholar
• Sun Z, Xue S, Zhang M, et al. Aberrant NSUN2-mediated m(5)C modification of H19 lncRNA is associated with poor differentiation of hepatocellular carcinoma. Oncogene. 2020;39(45):6906–6919. doi: 10.1038/s41388-020-01475-w.
   PubMed Web of Science ®Google Scholar
• Heissenberger C, Liendl L, Nagelreiter F, et al. Loss of the ribosomal RNA methyltransferase NSUN5 impairs global protein synthesis and normal growth. Nucleic Acids Res. 2019;47(22):11807–11825. doi: 10.1093/nar/gkz1043.
   PubMed Web of Science ®Google Scholar
• Sanz AB, Sanchez-Niño MD, Ramos AM, et al. Regulated cell death pathways in kidney disease. Nat Rev Nephrol. 2023;19(5):281–299. doi: 10.1038/s41581-023-00694-0.
   PubMed Web of Science ®Google Scholar
• Wang W-J, Cai G-Y, Chen X-M. Cellular senescence, senescence-associated secretory phenotype, and chronic kidney disease. Oncotarget. 2017;8(38):64520–64533. doi: 10.18632/oncotarget.17327.
   PubMedGoogle Scholar
• Xia W, Li Y, Wu M, et al. Gasdermin E deficiency attenuates acute kidney injury by inhibiting pyroptosis and inflammation. Cell Death Dis. 2021;12(2):139. doi: 10.1038/s41419-021-03431-2.
   PubMed Web of Science ®Google Scholar
• Scholz H, Boivin FJ, Schmidt-Ott KM, et al. Kidney physiology and susceptibility to acute kidney injury: implications for renoprotection. Nat Rev Nephrol. 2021;17(5):335–349. doi: 10.1038/s41581-021-00394-7.
   PubMed Web of Science ®Google Scholar
• Priante G, et al. Cell death in the kidney. Int J Mol Sci. 2019;20(14):3598.
   PubMed Web of Science ®Google Scholar
• Linkermann A, Chen G, Dong G, et al. Regulated cell death in AKI. J Am Soc Nephrol. 2014;25(12):2689–2701. doi: 10.1681/ASN.2014030262.
   PubMed Web of Science ®Google Scholar
• Rich T, Allen RL, Wyllie AH. Defying death after DNA damage. Nature. 2000;407(6805):777–783. doi: 10.1038/35037717.
   PubMed Web of Science ®Google Scholar
• Tubbs A, Nussenzweig A. Endogenous DNA damage as a source of genomic instability in cancer. Cell. 2017;168(4):644–656. doi: 10.1016/j.cell.2017.01.002.
   PubMed Web of Science ®Google Scholar
• Tian X, Firsanov D, Zhang Z, et al. SIRT6 is responsible for more efficient DNA double-strand break repair in Long-Lived species. Cell. 2019;177(3):622–638 e22. doi: 10.1016/j.cell.2019.03.043.
   PubMed Web of Science ®Google Scholar
• Gupta N, Matsumoto T, Hiratsuka K, et al. Modeling injury and repair in kidney organoids reveals that homologous recombination governs tubular intrinsic repair. Sci Transl Med. 2022;14(634):eabj4772. doi: 10.1126/scitranslmed.abj4772.
   PubMed Web of Science ®Google Scholar
• Yan L-X. γ-H2AX – a novel biomarker for DNA double-strand breaks. In Vivo. 2008;22:305–310.
   PubMed Web of Science ®Google Scholar
• Rodriguez-Pastrana I, Birli E, Coutts AS. p53-dependent DNA repair during the DNA damage response requires actin nucleation by JMY. Cell Death Differ. 2023;30(7):1636–1647. doi: 10.1038/s41418-023-01170-9.
   PubMed Web of Science ®Google Scholar
• Lan S, Yang B, Migneault F, et al. Caspase-3-dependent peritubular capillary dysfunction is pivotal for the transition from acute to chronic kidney disease after acute ischemia-reperfusion injury. Am J Physiol Renal Physiol. 2021;321(3):F335–F351. doi: 10.1152/ajprenal.00690.2020.
   PubMed Web of Science ®Google Scholar
• Eskandari E, Eaves CJ. Paradoxical roles of caspase-3 in regulating cell survival, proliferation, and tumorigenesis. J Cell Biol. 2022;221(6):e202201159. doi: 10.1083/jcb.202201159.
   PubMed Web of Science ®Google Scholar