中华耳科学杂志2025，Vol.23Issue(3)：438-447,10.DOI:10.3969/j.issn.1672-2922.2025.03.016
先天性小耳畸形m6A甲基化与转录组联合分析
m6A Methylation and Transcriptome in Congenital Microtia
摘要
Abstract
Objective To understand modification of mRNA N6-methyladenosine(m6A)in congenital microtia.Methods Methylated RNA immunoprecipitation sequencing(MeRIP-seq)was used to compare m6A methylation in cartilage in microtia and normal ears.RNA sequencing(RNA-seq)was used to mine differentially expressed mRNAs.Through joint bioinformatics analysis using MeRIPseq and RNA-seq data,protein-protein interaction(PPI)networks were constructed,hub genes identified,and miRNA-target gene-IF regulatory networks constructed.Results A total of 17 076 differentially methylated m6A sites(DMMSs)and 9552 differentially methylated m6A genes(DMMGs)were identified by MeRIP-seq.RNA-seq revealed 1842 up-regulated genes and 3024 down-regulated genes.Combined analysis of MeRIP-seq and RNAseq data identified 96 differentially methylated and expressed genes.PPI networks identified 23 m6A related diagnostic genes,including EMX2,PPFIA2,HP and CDH20 that were hypermethylated with up-regulated expression,and CHGB,GRHL2,ALDH3B2,CDH1,DLX1,MUC6,MUCL1 and TFAP2B that were hypomethylated with down-regulated expression,indicating their potential involvement in the development of microtia.Conclusion This analysis of the differential pattern of m6A methylation in cartilage in microtia provides a theoretical basis for further study of the pathogenesis and potential treatment strategies of microtia.关键词
先天性小耳畸形/m6A/PPI网络/富集分析Key words
congenital microtia/m6A/PPI network/Enrichment analysis引用本文复制引用
杜玉玲,马静,高映勤,陈泉东,肖洋,李霞,张珩颖,林垦..先天性小耳畸形m6A甲基化与转录组联合分析[J].中华耳科学杂志,2025,23(3):438-447,10.基金项目
云南省教育厅科学研究基金项目(No:2023Y0825) （No:2023Y0825）
春城青年拔尖人才专项(N08901258) （N08901258）
云南省儿童健康与疾病临床医学研究中心开放基金项目(No:2022-ETYY-YJ-10) （No:2022-ETYY-YJ-10）
昆明市卫生科技人才培养项目(No:2023-SW(后备)-81) （No:2023-SW(后备）
