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Review

Role of Transposable Elements in Gene Regulation in the Human Genome

by 1, 2,3 and 1,4,*
1
Department of Biological Sciences, Brock University, St. Catharines, ON L2S 3A1, Canada
2
Department of Microbiology, Dankook University, Cheonan 31116, Korea
3
Center for Bio-Medical Engineering Core Facility, Dankook University, Cheonan 31116, Korea
4
Centre of Biotechnologies, Brock University, St. Catharines, ON L2S 3A1, Canada
*
Author to whom correspondence should be addressed.
Academic Editor: Izabela Makalowska
Life 2021, 11(2), 118; https://doi.org/10.3390/life11020118
Received: 19 January 2021 / Revised: 28 January 2021 / Accepted: 2 February 2021 / Published: 4 February 2021
(This article belongs to the Special Issue Genomic Impact of Transposable Elements)
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 known principal ways by which TEs regulate the expression of genes. First, TEs provide cis-regulatory sequences in the genome with their intrinsic regulatory properties for their own expression, making 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 with their sequences showed to be present in a substantial fraction of miRNAs and long non-coding RNAs (lncRNAs), indicating the TE origin of these RNAs. 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 in providing evolutionary novelty to gene regulation. These TE-derived regulatory mechanisms also tend to function in a 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. View Full-Text
Keywords: transposable elements; mobile elements; gene regulation; evolution; human transposable elements; mobile elements; gene regulation; evolution; human
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MDPI and ACS Style

Ali, A.; Han, K.; Liang, P. Role of Transposable Elements in Gene Regulation in the Human Genome. Life 2021, 11, 118. https://doi.org/10.3390/life11020118

AMA Style

Ali A, Han K, Liang P. Role of Transposable Elements in Gene Regulation in the Human Genome. Life. 2021; 11(2):118. https://doi.org/10.3390/life11020118

Chicago/Turabian Style

Ali, Arsala, Kyudong Han, and Ping Liang. 2021. "Role of Transposable Elements in Gene Regulation in the Human Genome" Life 11, no. 2: 118. https://doi.org/10.3390/life11020118

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