Evidence map›Paper›PMID 29327083›Full record

ReviewCurrent genetics2018

R-loops: targets for nuclease cleavage and repeat instability.

Catherine H Freudenreich

Open access · greenAbstract readReview
In one paragraph

Review in Current genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed
3.7field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

53 citing papers in PubMed, 69 citations in OpenAlex.

  1. [Two cases of congenital myotonic dystrophy type 1 caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026
    Article
  2. The novel (TCTG)Human genomics · 2026
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  6. Review
  7. APOBEC3A deaminates CTG hairpin loops to promote fragility and instability of expanded CAG/CTG repeats.Proceedings of the National Academy of Sciences of the United States of America · 2025
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  12. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

Catherine H FreudenreichDepartment of Biology, Tufts University, Medford, MA, 02155, USA. catherine.freudenreich@tufts.edu.ORCID http://orcid.org/0000-0002-1652-2917
Tufts University · US

Funding

Mutations Arising During DNA RepairP01GM105473 · NIGMS · BRANDEIS UNIVERSITY · PI HABER, JAMES E · 2014 to 2018
$8.6M
Fork Restart at Replication Barriers and Effects on Genome StabilityR01GM122880 · NIGMS · TUFTS UNIVERSITY MEDFORD · PI FREUDENREICH, CATHERINE H · 2017 to 2020
$1.4M
National Institutes of Health GM105473National Institutes of Health GM122880National Science Foundation MCB1330743NIGMS NIH HHS P01 GM105473NIGMS NIH HHS R01 GM122880
6 · The paper itself

Abstract

R-loops form when transcribed RNA remains bound to its DNA template to form a stable RNA:DNA hybrid. Stable R-loops form when the RNA is purine-rich, and are further stabilized by DNA secondary structures on the non-template strand. Interestingly, many expandable and disease-causing repeat sequences form stable R-loops, and R-loops can contribute to repeat instability. Repeat expansions are responsible for multiple neurodegenerative diseases, including Huntington's disease, myotonic dystrophy, and several types of ataxias. Recently, it was found that R-loops at an expanded CAG/CTG repeat tract cause DNA breaks as well as repeat instability (Su and Freudenreich, Proc Natl Acad Sci USA 114, E8392-E8401, 2017). Two factors were identified as causing R-loop-dependent breaks at CAG/CTG tracts: deamination of cytosines and the MutLγ (Mlh1-Mlh3) endonuclease, defining two new mechanisms for how R-loops can generate DNA breaks (Su and Freudenreich, Proc Natl Acad Sci USA 114, E8392-E8401, 2017). Following R-loop-dependent nicking, base excision repair resulted in repeat instability. These results have implications for human repeat expansion diseases and provide a paradigm for how RNA:DNA hybrids can cause genome instability at structure-forming DNA sequences. This perspective summarizes mechanisms of R-loop-induced fragility at G-rich repeats and new links between DNA breaks and repeat instability.

Indexed as

DNADNA RepairDNA Repeat ExpansionDNA ReplicationGenomic InstabilityHumansNucleic Acid HybridizationRNASaccharomyces cerevisiaeDNARNABase excision repair (BER)Chromosome fragilityCytosine deaminationMutLγ (Mlh1–Mlh3)R-loopTrinucleotide repeat instability

Identifiers

PMID29327083
PMCPMC6039234
OpenAlexW2782859262

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.