Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Role of Transposable Elements in Gene Regulation in the Human Genome

Version 1 : Received: 19 November 2020 / Approved: 20 November 2020 / Online: 20 November 2020 (15:37:36 CET)

How to cite: Ali, A.; Han, K.; Liang, P. Role of Transposable Elements in Gene Regulation in the Human Genome. Preprints 2020, 2020110548 (doi: 10.20944/preprints202011.0548.v1). Ali, A.; Han, K.; Liang, P. Role of Transposable Elements in Gene Regulation in the Human Genome. Preprints 2020, 2020110548 (doi: 10.20944/preprints202011.0548.v1).

Abstract

Transposable elements (TEs), also known as mobile elements (MEs), are interspersed repeats that constitute a major fraction of the genomes of higher organisms. As one of their important functional impacts on gene function and genome evolution, TEs participate in regulating the expression of genes nearby and even far away at transcriptional and post-transcriptional levels. There are two principal ways by which TEs regulate expression of genes in the human genome. First, TEs provide cis-regulatory sequences in the genome. TEs’ intrinsic regulatory properties for their own expression make them potential factors for regulating the expression of the host genes. TE-derived cis-regulatory sites are found in promoter and enhancer elements, providing binding sites for a wide range of trans-acting factors. Second, TEs encode for regulatory RNAs. TEs sequences have been revealed to be present in a substantial fraction of miRNAs and long non-coding RNAs (lncRNAs), indicating their TE origin. Furthermore, TEs sequences were found to be critical for regulatory functions of these RNAs including binding to the target mRNA. TEs thus provide crucial regulatory roles by being part of cis-regulatory and regulatory RNA sequences. Moreover, both TE-derived cis-regulatory sequences and TE-derived regulatory RNAs, have been implicated to provide evolutionary novelty to gene regulation. These TE-derived regulatory mechanisms also tend to function in tissue-specific fashion. In this review, we aim to comprehensively cover the studies regarding these two aspects of TE-mediated gene regulation, mainly focusing on the mechanisms, contribution of different types of TEs, differential roles among tissue types, and lineage specificity, based on data mostly in humans.

Subject Areas

transposable elements; mobile elements; gene regulation; evolution; human

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