Transposable elements drive species-specific and tissue-specific transcriptomes in human development

作者：Yun Zhang, Jianqi She, Xueyan Hu, Yueqi Jin, Jiaming Zhao, Songyan Hou, Changyu Tao, Minghao Du, Ence Yang · 发表于：Genome biology · 年份：2025 · DOI：10.1186/s13059-025-03855-5 · 被引用次数：2 · 研究领域：Chromosomal and Genetic Variations、Genomics and Chromatin Dynamics、Congenital heart defects research

BACKGROUND: Transposable elements (TEs) are an abundant and crucial regulatory resource in the human genome. Serving as alternative promoters, TEs can be reactivated and produce TE-initiated transcripts, which play importance roles in early development and differentiated tissues. However, the prevalence and function of TE-initiated transcription in human development are poorly characterized. RESULTS: We identify 14,164 TE-initiated transcripts across 40 human body sites and embryonic stem cells. Among TE-initiated transcripts, 80% are activated in a tissue-specific manner. TEs with tissue-specific transcription factor binding motifs are enriched in particular tissues. Additionally, approximately half of TE-derived TSSs are primates-specific. Notably, 312 primates-specific TE-derived TSSs are found to create novel tissue-specific gene expression patterns during evolution. CONCLUSIONS: Our results characterize the global profile of TE-initiated transcription and enhance our understanding of TE contribution to the primate-specific gene regulatory networks in human development.