The Human Long Interspersed Element-1 Retrotransposon: An Emerging Biomarker of Neoplasia

Overview

Journal Clin Chem

Publisher Oxford University Press

Specialty Biochemistry

Date 2017 Feb 12

PMID 28188229

Citations 68

Authors

Daniel Ardeljan

Martin S Taylor

David T Ting

Kathleen H Burns

Affiliations

Soon will be listed here.

Abstract

Background: A large portion of intronic and intergenic space in our genome consists of repeated sequences. One of the most prevalent is the long interspersed element-1 (LINE-1, L1) mobile DNA. LINE-1 is rightly receiving increasing interest as a cancer biomarker.

Content: Intact LINE-1 elements are self-propagating. They code for RNA and proteins that function to make more copies of the genomic element. Our current understanding is that this process is repressed in most normal cells, but that LINE-1 expression is a hallmark of many types of malignancy. Here, we will consider features of cancer cells when cellular defense mechanisms repressing LINE-1 go awry. We will review evidence that genomic LINE-1 methylation, LINE-1-encoded RNAs, and LINE-1 ORF1p (open reading frame 1 protein) may be useful in cancer diagnosis.

Summary: The repetitive and variable nature of LINE-1 DNA sequences poses unique challenges to studying them, but recent advances in reagents and next generation sequencing present opportunities to characterize LINE-1 expression and activity in cancers and to identify clinical applications.

Citing Articles

LINE-1 ORF1p expression occurs in clear cell ovarian carcinoma precursors and is a candidate blood biomarker.

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Targeted detection of endogenous LINE-1 proteins and ORF2p interactions.

Nielsen M, Wolters J, Bringas O, Jiang H, Di Stefano L, Oghbaie M Mob DNA. 2025; 16(1):3.

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p53-mediated regulation of LINE1 retrotransposon-derived R-loops.

Paul P, Kumar A, Parida A, De A, Bhadke G, Khatua S J Biol Chem. 2025; 301(3):108200.

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The reconstruction of evolutionary dynamics of processed pseudogenes indicates deep silencing of "retrobiome" in naked mole rat.

Kogan V, Molodtsov I, Fleyshman D, Leontieva O, Koman I, Gudkov A Proc Natl Acad Sci U S A. 2024; 121(45):e2313581121.

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Evolution of Repetitive Elements, Their Roles in Homeostasis and Human Disease, and Potential Therapeutic Applications.

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