Transposable elements drive species-specific and tissue-specific transcriptomes in human development
摘要
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.
ResultsWe 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.
ConclusionsOur 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.