Page 18 - 南京医科大学自然版
P. 18

第46卷第10期
               ·1448 ·                           南 京    医 科 大 学 学         报                        2026年10月


                  利益冲突声明:                                            Cell Biol,2025,26(9):691-705
                  作者单位与期刊出版部均隶属于南京医科大学,但无利                      [10] Martinez N M,Su A,Burns M C,et al. Pseudouridine
              益冲突。                                                   synthases modify human pre⁃mRNA co⁃transcriptionally
                  Conflict of Interests:                             and affect pre⁃mRNA processing[J]. Mol Cell,2022,82
                  The author’s affiliation and the publishing department of  (3):645-659
              this journal are affiliated with Nanjing Medical University,but  [11]Eyler D E,Franco M K,Batool Z,et al. Pseudouridinyla⁃
              there is no conflict of interest in this work.         tion of mRNA coding sequences alters translation[J].
                  作者贡献声明:                                            Proc Natl Acad Sci U S A,2019,116(46):23068-23074
                  王新新负责设计及实施实验、数据收集与处理、文章撰                      [12]Song J H,Dong L T,Sun H X,et al. CRISPR⁃free,program⁃
              写;黄伯贤负责研究设计与实验指导,论文审阅;陆嘉逢负责                            mable RNA pseudouridylation to suppress premature ter⁃
              研究设计与实验指导,论文审阅。                                        mination codons[J]. Mol Cell,2023,83(1):139-155
                  Author’s Contributions:                       [13]Rodell R,Robalin N,Martinez N M. Why U matters:
                  Wang Xinxin was responsible for research design,imple⁃  detection and functions of pseudouridine modifications in
              mentation of experiments,data collection and analysis,and  mRNAs[J]. Trends Biochem Sci,2024,49(1):12-27
              manuscript writing;Huang Boxian was responsible for research  [14]Muda A,Malerba L,Giordano L,et al. A PUS7 gene patho⁃
              design,experimental guidance ,and manuscript review and  genic variant causing self⁃injurious behavior,sleep distur⁃
              revision;Lu Jiafeng was responsible for research design,experi⁃  bances,and developmental delay:a case report[J]. Am J
              mental guidance,and manuscript review and revision.    Med Genet A,2023,191(7):1953-1958
                                                                [15]De Brouwer A P M,Abou Jamra R,KöRtel N,et al. Varia⁃
             [参考文 献]
                                                                     nts in PUS7 cause intellectual disability with speech delay,
             [1] Tang C,Hu W Q. Epigenetic modifications during embryo⁃
                                                                     microcephaly,short stature,and aggressive behavior[J].
                   nic development:gene reprogramming and regulatory
                                                                     Am J Hum Genet,2018,103(6):1045-1052
                   networks[J]. J Reprod Immunol,2024,165:104311
                                                                [16]Shaheen R,Tasak M,Maddirevula S,et al. PUS7 mutations
             [2] Wang M K,Gao C C,Yang Y G. Emerging roles of RNA
                                                                     impair pseudouridylation in humans and cause intellectual
                   methylation in development[J]. Acc Chem Res,2023,56
                                                                     disability and microcephaly[J]. Hum Genet,2019,138
                  (23):3417-3427
                                                                    (3):231-239
             [3] Zhang J,Tong L L,Liu Y C,et al. The regulatory role of
                                                                [17]Han S T,Kim A C,Garcia K,et al. PUS7 deficiency in
                   m6A modification in the maintenance and differentiation of
                                                                     human patients causes profound neurodevelopmental
                   embryonic stem cells[J]. Genes Dis,2024,11(5):101199
                                                                     phenotype by dysregulating protein translation[J]. Mol
             [4] Sun Y S,Li J T. Mechanistic insights into stem cell fate
                                                                     Genet Metab,2022,135(3):221-229
                   regulation via RNA methylation[J]. Ageing Res Rev,
                                                                [18]Guzzi N,Ciesla M,Ngoc P C T,et al. Pseudouridylation of
                   2025,107:102717                                   tRNA ⁃ derived fragments steers translational control in
             [5] Orellana E A,Liu Q,Yankova E,et al. METTL1⁃mediated
                                                                     stem cells[J]. Cell,2018,173(5):1204-1216
                   M7G modification of Arg ⁃ TCT tRNA drives oncogenic  [19]Cui Q,Yin K L,Zhang X T,et al. Targeting PUS7 sup⁃
                   transformation[J]. Mol Cell,2021,81(16):3323-3338
                                                                     presses tRNA pseudouridylation and glioblastoma tumori⁃
             [6] Ge J B,Wang Z X,Wu J. NAT10⁃mediated ac4C modifi⁃   genesis[J]. Nat Cancer,2021,2(9):932-949
                   cation promotes ectoderm differentiation of human embry⁃  [20]Liu R M,Dong Y H,Gao Z P,et al. PUS7⁃dependent Ψ
                   onic stem cells via acetylating NR2F1 mRNA[J]. Cell
                                                                     reshapes specific synaptic gene exons to facilitate fear
                   Prolif,2024,57(4):e13577                          extinction memory formation[J]. Mol Brain,2025,18(1):80
             [7] Moon J,Lee H,Oh M,et al. Embryonic stem cell⁃specific
                                                                [21] Zhang L S,Ye C,Ju C W,et al. BID⁃seq for transcriptome⁃
                   intragenic enhancer RNA essential for NSUN2⁃mediated  wide quantitative sequencing of mRNA pseudouridine at
                   stem cell fate regulation[J]. Int J Biol Macromol,2025,
                                                                     base resolution[J]. Nat Protoc,2024,19(2):517-538
                   319:145470                                   [22]Huang X,Wang Y J,Li Q S,et al. Coupling of stemness
             [8] Li Y Q,Yi Y,Gao X L,et al. 2′⁃O⁃methylation at internal  maintenance with cell cycle control in stem cells[J].
                   sites on mRNA promotes mRNA stability[J]. Mol Cell,  Front Cell Dev Biol,2025,13:1693489
                   2024,84(12):2320-2336                        [23]Deveale B,Liu L Q,Boileau R,et al. G1/S restriction
             [9] Luo N,Huang Q,Zhang M L,et al. Functions and thera⁃  point coordinates phasic gene expression and cell differ⁃
                   peutic applications of pseudouridylation[J]. Nat Rev Mol  entiation[J]. Nat Commun,2022,13(1):3696
   13   14   15   16   17   18   19   20   21   22   23