Wang Qi, Chen Hangyu, Du Baopu, Wang Lulu, Jing Peng, Wu Haofeng, Lin Jian, Gao Yan
Department of Human Anatomy, School of Basic Medical Sciences, Capital Medical University, Beijing 100069, China.
Department of Pharmacy, Peking University Third Hospital, Beijing 100191, China.
Genomics. 2025 Sep;117(5):111085. doi: 10.1016/j.ygeno.2025.111085. Epub 2025 Jul 9.
This study investigates the role of 5-hydroxymethylcytosine (5hmC) in long non-coding RNA (lncRNA) genes across diverse human tissues, a topic that has remained underexplored despite previous studies highlighting its contributions to development and tissue specificity. We analyzed 15 human tissue samples using 5hmC sequencing (5hmC-seq) to map the distribution of 5hmC across the genome. Specific enrichment of 5hmC was observed in lncRNA genes, particularly those with tissue-specific expression patterns. Bioinformatics analysis revealed strong correlations between the tissue-specific 5hmC-modified lncRNA genes and their respective functional roles in different tissues. Additionally, pathway enrichment and functional annotation analyses of target genes of key 5hmC-modified lncRNA genes provided further insights into their potential involvement in tissue-specific processes. These findings underscore the significant role of 5hmC modifications in regulating the function of lncRNA genes linked to tissue specificity, offering a foundation for future research on the clinical implications of lncRNA 5hmC modifications.
本研究调查了5-羟甲基胞嘧啶（5hmC）在多种人类组织的长链非编码RNA（lncRNA）基因中的作用，尽管先前的研究强调了其对发育和组织特异性的贡献，但该主题仍未得到充分探索。我们使用5hmC测序（5hmC-seq）分析了15个人类组织样本，以绘制全基因组中5hmC的分布。在lncRNA基因中观察到5hmC的特异性富集，特别是那些具有组织特异性表达模式的基因。生物信息学分析揭示了组织特异性5hmC修饰的lncRNA基因与其在不同组织中的各自功能作用之间的强相关性。此外，对关键5hmC修饰的lncRNA基因的靶基因进行的通路富集和功能注释分析，进一步深入了解了它们在组织特异性过程中的潜在参与情况。这些发现强调了5hmC修饰在调节与组织特异性相关的lncRNA基因功能中的重要作用，为未来关于lncRNA 5hmC修饰的临床意义的研究奠定了基础。
