Primate-Specific ORF0 Contributes to Retrotransposon-Mediated Diversity

Denli, Ahmet M.; Narvaiza, Iñigo; Kerman, Bilal E.; Pena, Monique; Benner, Chris; Marchetto, Maria C.; Diedrich, Jolene K.; Aslanian, Aaron; Ma, Ji; Moresco, James J.; Moore, Lynne Randolph; Hunter, Tony; Saghatelian, Alan; Gage, Fred H.

doi:10.1016/j.cell.2015.09.025

Cited by 189 publications

(195 citation statements)

References 55 publications

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“…Antisense transcription from the 5' UTR promoter sequence is also well-documented, leading either to the expression of an ORF0 or to the transcription of chimeric transcripts containing sequences of neighboring genes (Speek 2001;Denli et al 2015;Criscione et al 2016). Both ORF1p and ORF2p proteins are required for L1 retrotransposition (Richardson et al 2015).…”

Section: Transposable Elements In the Human Genomementioning

confidence: 99%

Post-transcriptional regulation of LINE-1 retrotransposition by AID/APOBEC and ADAR deaminases

et al. 2018

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Long interspersed element-1 (LINE-1 or L1) retrotransposons represent the only functional family of autonomous transposable elements in humans and formed 17% of our genome. Even though most of the human L1 sequences are inactive, a limited number of copies per individual retain the ability to mobilize by a process termed retrotransposition. The ongoing L1 retrotransposition may result in insertional mutagenesis that could lead to negative consequences such as genetic disease and cancer. For this reason, cells have evolved several mechanisms of defense to restrict L1 activity. Among them, a critical role for cellular deaminases [activation-induced deaminase (AID)/apolipoprotein B mRNA-editing catalytic polypeptide-like (APOBEC) and adenosine deaminases that act on RNA (ADAR) enzymes] has emerged. The majority of the AID/ APOBEC family of proteins are responsible for the deamination of cytosine to uracil (C-to-U editing) within DNA and RNA targets. The ADARs convert adenosine bases to inosines (A-to-I editing) within doublestranded RNA (dsRNA) targets. This review will discuss the current understanding of the regulation of LINE-1 retrotransposition mediated by these enzymes.

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Section: Transposable Elements In the Human Genomementioning

confidence: 99%

Post-transcriptional regulation of LINE-1 retrotransposition by AID/APOBEC and ADAR deaminases

et al. 2018

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“…LINE-1 also has an antisense promoter (ASP) activity that can initiate fusion transcripts (8–10) and aberrant coding sequence (ORF0) (11) in the opposing direction.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2017

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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 which 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 open reading frame 1 protein (ORF1p) may be useful in cancer diagnosis. Summary The repetitive and variable nature of LINE-1 DNA sequences pose 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 identify clinical applications.

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“…1B) (5, 6). Acquisition of an additional L1 ORF 5′ to ORF1 (ORF0) was recently demonstrated in the primate lineage (7). …”

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confidence: 99%

Retrotransposons as regulators of gene expression

Elbarbary

Lucas

Maquat

2016

Science

348

302

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Transposable elements (TEs) are both a boon and a bane to eukaryotic organisms, depending on where they integrate into the genome and how their sequences function once integrated. We focus on two types of TEs: long interspersed elements (LINEs) and short interspersed elements (SINEs). LINEs and SINEs are retrotransposons; that is, they transpose via an RNA intermediate. We discuss how LINEs and SINEs have expanded in eukaryotic genomes and contribute to genome evolution. An emerging body of evidence indicates that LINEs and SINEs function to regulate gene expression by affecting chromatin structure, gene transcription, pre-mRNA processing, or aspects of mRNA metabolism. We also describe how adenosine-to-inosine editing influences SINE function and how ongoing retrotransposition is countered by the body’s defense mechanisms.

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Primate-Specific ORF0 Contributes to Retrotransposon-Mediated Diversity

Cited by 189 publications

References 55 publications

Post-transcriptional regulation of LINE-1 retrotransposition by AID/APOBEC and ADAR deaminases

Post-transcriptional regulation of LINE-1 retrotransposition by AID/APOBEC and ADAR deaminases

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

Retrotransposons as regulators of gene expression

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