The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters
Open accessAbstract
Summary R-loops are three-stranded nucleic acid structures found abundantly, and yet often viewed as by-products of transcription. Studying cells from patients with a motor neuron disease (amyotrophic lateral sclerosis 4, ALS4) due to a mutation in senataxin, we uncovered how R-loops promote transcription. In ALS4 patients, the senataxin mutation depletes R-loops with a consequent effect on gene expression. With fewer R-loops in ALS4 cells, the expression of BAMBI, a negative regulator of TGFβ, is reduced that then leads to the activation of the TGFβ pathway. We uncovered that genomewide R-loops influence promoter methylation of over 1,200 human genes. DNA methyl-transferase 1 favors binding to double-stranded DNA over R-loops. Thus, in forming R-loops, nascent RNA blocks DNA methylation and promotes further transcription. Hence, our results show that nucleic acid structures in addition to sequences influence the binding and activity of regulatory proteins.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Direct conversion of fibroblasts to functional neurons by defined factors
Vierbuchen, T., Ostermeier, A., Pang, Z. P., Kokubu, Y., Südhof, T. C., & Wernig, M. (2010) · Nature · doi:10.1038/nature08797 · Cited by 3,017
Fast and SNP-tolerant detection of complex variants and splicing in short reads
Wu, T. D., & Nacu, S. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq057 · Cited by 1,894
Pot1, the Putative Telomere End-Binding Protein in Fission Yeast and Humans
Baumann, P., & Cech, T. R. (2001) · Science · doi:10.1126/science.1060036 · Cited by 1,028
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
Zhang, K., Donnelly, C. J., Haeusler, A. R., Grima, J. C., Machamer, J. B., Steinwald, P., Daley, E. L., Miller, S. J., Cunningham, K. M., Vidensky, S., et al. (2015) · Nature · doi:10.1038/nature14973 · Cited by 982
Precise Maps of RNA Polymerase Reveal How Promoters Direct Initiation and Pausing
Kwak, H., Fuda, N. J., Core, L. J., & Lis, J. T. (2013) · Science · doi:10.1126/science.1229386 · Cited by 849
Endo, F., Komine, O., Fujimori-Tonou, N., Katsuno, M., Jin, S., Watanabe, S., Sobue, G., Dezawa, M., Wyss-Coray, T., & Yamanaka, K. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.03.053 · Cited by 207
Cited by
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
Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor
Hasanova, Z., Klapstova, V., Porrua, O., Stefl, R., & Sebesta, M. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad092 · Cited by 60
Genome editing technologies: CRISPR, LEAPER, RESTORE, ARCUT, SATI, and RESCUE
Görücü Yılmaz, Ş. (2021) · IfADo - Leibniz Research Centre for Working Environment and Human Factors, Dortmund · doi:10.17179/excli2020-3070
Metadata
- Authors
- Grunseich, C., Wang, I. X., Watts, J. A., Burdick, J. T., Guber, R. D., Zhu, Z., Bruzel, A., Lanman, T., Chen, K., Schindler, A. B., Edwards, N., Ray-Chaudhury, A., Yao, J., Lehky, T., Piszczek, G., Crain, B., Fischbeck, K. H., & Cheung, V. G.
- Venue
- Molecular Cell
- Publisher
- Elsevier BV
- Published
- 2018-02
- Volume
- 69
- Issue
- 3
- Pages
- 426-437.e7
- ISSN
- 1097-2765 (ISSN-L)
- OpenAlex
- W2782517010
- Cited by
- 234
- References
- 6
- FWCI
- 7.06
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters. https://app.cochat.ai/papers/10.1016/j.molcel.2017.12.030
- The paper
- Grunseich, C., Wang, I. X., Watts, J. A., Burdick, J. T., Guber, R. D., Zhu, Z., Bruzel, A., Lanman, T., Chen, K., Schindler, A. B., Edwards, N., Ray-Chaudhury, A., Yao, J., Lehky, T., Piszczek, G., Crain, B., Fischbeck, K. H., & Cheung, V. G. (2018). Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters. Molecular Cell. https://doi.org/10.1016/j.molcel.2017.12.030
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
