Evidence map›Paper›PMID 26182405›Full record

ArticleeLife2015

Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.

Yoong Wearn Lim, Lionel A Sanz, Xiaoqin Xu, Stella R Hartono, Frédéric Chédin

Open access · goldAbstract read
In one paragraph

Article in eLife, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 115 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
115citing papers in PubMed, 1 pooled it
6.5field-weighted citation impact, top 3% 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

115 citing papers in PubMed, 1 synthesis or guideline pooled it, 191 citations in OpenAlex.

  1. Pooled it
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  6. Protein-mediated stabilization and nicking of the nontemplate DNA strand dramatically affect R-loop formation in vitro.Proceedings of the National Academy of Sciences of the United States of America · 2025
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55 more citing papers are in PubMed but not listed here.

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

5 authors at 1 institution in 1 country.

Yoong Wearn LimDepartment of Molecular and Cellular Biology, University of California, Davis, Davis, United States.
Lionel A SanzDepartment of Molecular and Cellular Biology, University of California, Davis, Davis, United States.
Xiaoqin XuDepartment of Molecular and Cellular Biology, University of California, Davis, Davis, United States.
Stella R HartonoDepartment of Molecular and Cellular Biology, University of California, Davis, Davis, United States.
Frédéric ChédinDepartment of Molecular and Cellular Biology, University of California, Davis, Davis, United States.
University of California, Davis · US

Funding

UC Davis MCB T32 Administrative Supplement to Recognize Excellence in Diversity, Equity, Inclusion, and Accessibility (DEIA) MentorshipT32GM007377 · NIGMS · UNIVERSITY OF CALIFORNIA DAVIS · PI CHEDIN, FREDERIC LOUIS · 1985 to 2023
$9.9M
"R-loop formation protects CpG islands against epigenetic silencing".R01GM094299 · NIGMS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI CHEDIN, FREDERIC LOUIS · 2010 to 2015
$1.5M
Genome Sequencer FLXS10RR029668 · NCRR · UNIVERSITY OF CALIFORNIA BERKELEY · PI NGAI, JOHN J. · 2010 to 2010
$623k
Illumina Sequencer to Facilitate Functional Genomics at BerkeleyS10RR027303 · NCRR · UNIVERSITY OF CALIFORNIA BERKELEY · PI TAYLOR, JOHN W. · 2010 to 2010
$500k
NCRR NIH HHS S10 RR027303NCRR NIH HHS S10 RR029668NIGMS NIH HHS 5T32GM007377NIGMS NIH HHS R01 GM094299NIGMS NIH HHS T32 GM007377
6 · The paper itself

Abstract

Aicardi-Goutières syndrome (AGS) is a severe childhood inflammatory disorder that shows clinical and genetic overlap with systemic lupus erythematosus (SLE). AGS is thought to arise from the accumulation of incompletely metabolized endogenous nucleic acid species owing to mutations in nucleic acid-degrading enzymes TREX1 (AGS1), RNase H2 (AGS2, 3 and 4), and SAMHD1 (AGS5). However, the identity and source of such immunogenic nucleic acid species remain undefined. Using genome-wide approaches, we show that fibroblasts from AGS patients with AGS1-5 mutations are burdened by excessive loads of RNA:DNA hybrids. Using MethylC-seq, we show that AGS fibroblasts display pronounced and global loss of DNA methylation and demonstrate that AGS-specific RNA:DNA hybrids often occur within DNA hypomethylated regions. Altogether, our data suggest that RNA:DNA hybrids may represent a common immunogenic form of nucleic acids in AGS and provide the first evidence of epigenetic perturbations in AGS, furthering the links between AGS and SLE.

Indexed as

DNA MethylationAutoimmune Diseases of the Nervous SystemCells, CulturedDNAEpigenesis, GeneticFibroblastsHumansImmunologic FactorsNervous System MalformationsRNADNAImmunologic FactorsRNAAicardi–Goutières syndromechromosomesDNA methylationevolutionary biologygenesgenomicshumanRNA:DNA hybridsRNase H2

Identifiers

PMID26182405
PMCPMC4528086
OpenAlexW1828408764

What OpenQuestion holds

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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.