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

Abstract

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.