Next Article in Journal / Special Issue
Epigenetic Control of Human Endogenous Retrovirus Expression: Focus on Regulation of Long-Terminal Repeats (LTRs)
Previous Article in Journal
Variability and Global Distribution of Subgenotypes of Bovine Viral Diarrhea Virus
Previous Article in Special Issue
Structure-Function Model for Kissing Loop Interactions That Initiate Dimerization of Ty1 RNA
Article Menu
Issue 6 (June) cover image

Export Article

Open AccessReview
Viruses 2017, 9(6), 131;

The Role of Somatic L1 Retrotransposition in Human Cancers

Graduate Program in Molecular Medicine, University of Maryland, Baltimore, MD 21201, USA
Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Department of Medicine, University of Maryland School of Medicine; Baltimore, MD 21201, USA
Greenebaum Comprehensive Cancer Center, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Author to whom correspondence should be addressed.
Academic Editors: David J. Garfinkel and Katarzyna J. Purzycka
Received: 17 March 2017 / Revised: 9 May 2017 / Accepted: 22 May 2017 / Published: 31 May 2017
Full-Text   |   PDF [378 KB, uploaded 31 May 2017]   |  


The human LINE-1 (or L1) element is a non-LTR retrotransposon that is mobilized through an RNA intermediate by an L1-encoded reverse transcriptase and other L1-encoded proteins. L1 elements remain actively mobile today and continue to mutagenize human genomes. Importantly, when new insertions disrupt gene function, they can cause diseases. Historically, L1s were thought to be active in the germline but silenced in adult somatic tissues. However, recent studies now show that L1 is active in at least some somatic tissues, including epithelial cancers. In this review, we provide an overview of these recent developments, and examine evidence that somatic L1 retrotransposition can initiate and drive tumorigenesis in humans. Recent studies have: (i) cataloged somatic L1 activity in many epithelial tumor types; (ii) identified specific full-length L1 source elements that give rise to somatic L1 insertions; and (iii) determined that L1 promoter hypomethylation likely plays an early role in the derepression of L1s in somatic tissues. A central challenge moving forward is to determine the extent to which L1 driver mutations can promote tumor initiation, evolution, and metastasis in humans. View Full-Text
Keywords: retrotransposon; somatic retrotransposition; cancer genomics; LINE-1, L1 retrotransposon; somatic retrotransposition; cancer genomics; LINE-1, L1

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
Printed Edition Available!
A printed edition of this Special Issue is available here.

Share & Cite This Article

MDPI and ACS Style

Scott, E.C.; Devine, S.E. The Role of Somatic L1 Retrotransposition in Human Cancers. Viruses 2017, 9, 131.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Viruses EISSN 1999-4915 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top