The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi–Goutières syndrome
Open accessAbstract
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.
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Cites
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“, 2014) in addition to its canonical role in sensing unmethylated CpG-rich DNA (Hemmi et al., 2000).”
BackgroundHuman DNA methylomes at base resolution show widespread epigenomic differences
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“While additional samples encompassing other AGS mutations subtypes will need to be studied to confirm this trend, this observation nonetheless reinforces the similarities between AGS and SLE, although the DNA hypomethylation reported here is stronger than that previously reported in SLE.”
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R-Loops as Cellular Regulators and Genomic Threats
Crossley, M. P., Bocek, M., & Cimprich, K. A. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.01.024 · Cited by 746
R Loops: From Physiological to Pathological Roles
García-Muse, T., & Aguilera, A. (2019) · Cell · doi:10.1016/j.cell.2019.08.055 · Cited by 697
Functions of Replication Protein A as a Sensor of R Loops and a Regulator of RNaseH1
Nguyen, H. D., Yadav, T., Giri, S., Saez, B., Graubert, T. A., & Zou, L. (2017) · Molecular Cell · doi:10.1016/j.molcel.2017.01.029 · Cited by 267
Pokatayev, V., Hasin, N., Chon, H., Cerritelli, S. M., Sakhuja, K., Ward, J. M., Morris, H. D., Yan, N., & Crouch, R. J. (2016) · Journal of Experimental Medicine · doi:10.1084/jem.20151464 · Cited by 245
Our Conflict with Transposable Elements and Its Implications for Human Disease
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Metadata
- Authors
- Lim, Y. W., Sanz, L. A., Xu, X., Hartono, S. R., & Chédin, F.
- Venue
- eLife
- Publisher
- eLife Sciences Publications, Ltd
- Published
- 2015-07-16
- Volume
- 4
- ISSN
- 2050-084X (ISSN-L)
- OpenAlex
- W1828408764
- Cited by
- 188
- References
- 12
- FWCI
- 11.42
- Type
- journal article
- Language
- en
- Open access
- gold
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- Lim, Y. W., Sanz, L. A., Xu, X., Hartono, S. R., & Chédin, F. (2015). Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi–Goutières syndrome. eLife. https://doi.org/10.7554/elife.08007
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