Cited by 252RNA Research and SplicingDNA Repair MechanismsGenomics and Chromatin Dynamics

The DOI matches its Crossref record; 46 of the 46 references it cites were found in a registry or an index.

The core spliceosome as target and effector of non-canonical ATM signalling

Open access

Tresini, Maria, Warmerdam, Daniël O., Kolovos, Petros, Snijder, Loes, Vrouwe, Mischa G., Demmers, Jeroen A. A., van IJcken, Wilfred F. J., Grosveld, Frank G., Medema, René H., Hoeijmakers, Jan H. J., Mullenders, Leon H. F., Vermeulen, Wim, Marteijn, Jurgen A.·2015·Nature

DOI 10.1038/nature14512PMC PMC4501432

Open this paper in CoChat — free account

Abstract

In response to DNA damage, tissue homoeostasis is ensured by protein networks promoting DNA repair, cell cycle arrest or apoptosis. DNA damage response signalling pathways coordinate these processes, partly by propagating gene-expression-modulating signals. DNA damage influences not only the abundance of messenger RNAs, but also their coding information through alternative splicing. Here we show that transcription-blocking DNA lesions promote chromatin displacement of late-stage spliceosomes and initiate a positive feedback loop centred on the signalling kinase ATM. We propose that initial spliceosome displacement and subsequent R-loop formation is triggered by pausing of RNA polymerase at DNA lesions. In turn, R-loops activate ATM, which signals to impede spliceosome organization further and augment ultraviolet-irradiation-triggered alternative splicing at the genome-wide level. Our findings define R-loop-dependent ATM activation by transcription-blocking lesions as an important event in the DNA damage response of non-replicating cells, and highlight a key role for spliceosome displacement in this process.

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

Crossref · 10.1038/nature14512

Cites

46 of 46 references verified0 citation errors · 0 not checkable

Statistics

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.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

1 retracted

KAT5 tyrosine phosphorylation couples chromatin sensing to ATM signalling
Kaidi, A., & Jackson, S. P. (2013) · Nature · doi:10.1038/nature12201 · Cited by 167
Retracted
MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification
Cox, J., & Mann, M. (2008) · Nature Biotechnology · doi:10.1038/nbt.1511 · Cited by 14,855
TopHat: discovering splice junctions with RNA-Seq
Trapnell, C., Pachter, L. S., & Salzberg, S. L. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp120 · Cited by 11,682
The DNA Damage Response: Making It Safe to Play with Knives
Ciccia, A., & Elledge, S. J. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.09.019 · Cited by 4,368
DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
Bakkenist, C. J., & Kastan, M. B. (2003) · Nature · doi:10.1038/nature01368 · Cited by 3,466
ATM and ATR Substrate Analysis Reveals Extensive Protein Networks Responsive to DNA Damage
Matsuoka, S., Ballif, B. A., Smogorzewska, A., McDonald, E. R., Hurov, K. E., Luo, J., Bakalarski, C. E., Zhao, Z., Solimini, N., Lerenthal, Y., et al. (2007) · Science · doi:10.1126/science.1140321 · Cited by 3,075
DNA damage, aging, and Cancer
Hoeijmakers, J. H. J. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0804615 · Cited by 2,239
Self-citation
The ATM protein kinase: regulating the cellular response to genotoxic stress, and more
Shiloh, Y., & Ziv, Y. (2013) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3546 · Cited by 1,649
ATM Activation by DNA Double-Strand Breaks Through the Mre11-Rad50-Nbs1 Complex
Lee, J.-H., & Paull, T. T. (2005) · Science · doi:10.1126/science.1108297 · Cited by 1,424
Linkage of ATM to Cell Cycle Regulation by the Chk2 Protein Kinase
Matsuoka, S. (1998) · Science · doi:10.1126/science.282.5395.1893 · Cited by 1,322

Flagged first, then by citations

Show all 45 references

Sorted by citations

Items 101–200 of 251

Looping out of control: R-loops in transcription-replication conflict
Kumar, C., & Remus, D. (2023) · Chromosoma · doi:10.1007/s00412-023-00804-8 · Cited by 34
Traveling Rocky Roads: The Consequences of Transcription-Blocking DNA Lesions on RNA Polymerase II
Steurer, B., & Marteijn, J. A. F. (2016) · Journal of Molecular Biology · doi:10.1016/j.jmb.2016.11.006 · Cited by 34
Self-citation
ATR Kinase Inhibition Protects Non-cycling Cells from the Lethal Effects of DNA Damage and Transcription Stress
Kemp, M. G., & Sancar, A. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.719740 · Cited by 35
Spliceosomal components protect embryonic neurons from R-loop-mediated DNA damage and apoptosis
Sorrells, S., Nik, S., Casey, M. J., Cameron, R. C., Truong, H., Toruno, C., Gulfo, M., Lowe, A., Jette, C. A., Stewart, R. A., et al. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.031583 · Cited by 33
Light, chromatin, action: nuclear events regulating light signaling in Arabidopsis
Patitaki, E., Schivre, G., Zioutopoulou, A., Perrella, G., Bourbousse, C., Barnèche, F., & Kaiserli, E. (2022) · New Phytologist · doi:10.1111/nph.18424 · Cited by 33
MEN1 is a regulator of alternative splicing and prevents R-loop-induced genome instability through suppression of RNA polymerase II elongation
Jin, B., Zhu, J., Pan, T. S., Yang, Y., Liang, L., Zhou, Y., Zhang, T., Teng, Y., Wang, Z., Wang, X., et al. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad548 · Cited by 31
Eye in a Disk: eyeIntegration Human Pan-Eye and Body Transcriptome Database Version 1.0
Swamy, V. S., & McGaughey, D. M. (2019) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.19-27106 · Cited by 31
PARylation During Transcription: Insights into the Fine-Tuning Mechanism and Regulation
Páhi, Z. G., Borsos, B. N., Pantazi, V., Újfaludi, Z., & Pankotai, T. (2020) · Cancers · doi:10.3390/cancers12010183 · Cited by 31
Deubiquitinase USP47-stabilized splicing factor IK regulates the splicing of ATM pre-mRNA
Ka, H. I., Lee, S., Han, S., Jeong, A. L., Park, J. Y., Joo, H. J., Soh, S., Park, D., & Yang, Y. D. (2020) · Cell Death Discovery · doi:10.1038/s41420-020-0268-1 · Cited by 30
R‐loop induced stress response by second (p)ppGpp synthetase in Mycobacterium smegmatis: functional and domain interdependence
Krishnan, S., Petchiappan, A., Singh, A., Bhatt, A., & Chatterji, D. (2016) · Molecular Microbiology · doi:10.1111/mmi.13453 · Cited by 31
Splicing factor mutant myelodysplastic syndromes: Recent advances
Pellagatti, A., & Boultwood, J. (2019) · Advances in Biological Regulation · doi:10.1016/j.jbior.2019.100655 · Cited by 33
Chromatin architecture at susceptible gene loci in cerebellar Purkinje cells characterizes DNA damage–induced neurodegeneration
Kwak, Y. D., Shaw, T. I., Downing, S. M., Tewari, A., Jin, H., Li, Y., Dumitrache, L. C., Katyal, S., Khodakhah, K., Russell, H. R., et al. (2021) · Science Advances · doi:10.1126/sciadv.abg6363 · Cited by 30
R-Loop-Associated Genomic Instability and Implication of WRN and WRNIP1
Marabitti, V., Valenzisi, P., Lillo, G., Malacaria, E., Palermo, V., Pichierri, P., & Franchitto, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031547 · Cited by 29
Transcription-associated events affecting genomic integrity
Sebastian, R., & Oberdoerffer, P. (2017) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2016.0288 · Cited by 28
SF3B1 mutation and ATM deletion codrive leukemogenesis via centromeric R-loop dysregulation
Cusan, M., Shen, H., Zhang, B., Liao, A., Yang, L., Jin, M., Fernandez, M. M., Iyer, P. S., Wu, Y., Hart, K. L., et al. (2023) · Journal of Clinical Investigation · doi:10.1172/jci163325 · Cited by 33
Emerging roles for histone modifications in DNA excision repair
Mao, P., & Wyrick, J. J. (2016) · FEMS Yeast Research · doi:10.1093/femsyr/fow090 · Cited by 31
R-loops, type I topoisomerases and cancer
Saha, S. T., & Pommier, Y. G. (2023) · NAR Cancer · doi:10.1093/narcan/zcad013 · Cited by 27
Checkpoint Defects Elicit a WRNIP1-Mediated Response to Counteract R-Loop-Associated Genomic Instability
Marabitti, V., Lillo, G., Malacaria, E., Palermo, V., Pichierri, P., & Franchitto, A. (2020) · Cancers · doi:10.3390/cancers12020389 · Cited by 26
Transcription stress at telomeres leads to cytosolic DNA release and paracrine senescence
Siametis, A., Stratigi, K., Giamaki, D., Chatzinikolaou, G., Akalestou-Clocher, A., Goulielmaki, E., Luke, B., Schumacher, B., & Garinis, G. A. (2024) · Nature Communications · doi:10.1038/s41467-024-48443-6 · Cited by 27
Selective defects in gene expression control genome instability in yeast splicing mutants
Tam, A., Sihota, T. S., Milbury, K. L., Zhang, A., Mathew, V., & Stirling, P. C. (2018) · Molecular Biology of the Cell · doi:10.1091/mbc.e18-07-0439 · Cited by 25
Ubiquitous overexpression of the DNA repair factor dPrp19 reduces DNA damage and extends Drosophila life span
Garschall, K., Dellago, H., Gáliková, M., Schosserer, M., Flatt, T., & Grillari, J. (2017) · npj Aging and Mechanisms of Disease · doi:10.1038/s41514-017-0005-z · Cited by 25
Isoforms of RNF128 Regulate the Stability of Mutant P53 in Barrett's Esophageal Cells
Ray, D., Ray, P., Ferrer-Torres, D., Wang, Z., Nancarrow, D. J., Yoon, H., Martinho, M. S., Hinton, T., Owens, S. R., Thomas, D. G., et al. (2019) · Gastroenterology · doi:10.1053/j.gastro.2019.10.040 · Cited by 25
The Effects of LW-AFC on the Hippocampal Transcriptome in Senescence-Accelerated Mouse Prone 8 Strain, a Mouse Model of Alzheimer’s Disease
Wang, J., Liu, Y., Cheng, X., Zhang, X., Liu, F., Liu, G., Qiao, S., Ni, M., Zhou, W., Zhang, Y., et al. (2017) · Journal of Alzheimer s Disease · doi:10.3233/jad-161079 · Cited by 24
Advancements and challenges of R-loops in cancers: Biological insights and future directions
Li, D., Shao, F., Li, X., Yu, Q., Wu, R., Wang, J., Wang, Z., Wusiman, D., Ye, L., Guo, Y., et al. (2024) · Cancer Letters · doi:10.1016/j.canlet.2024.217359 · Cited by 23
Metabolic Rewiring in the Face of Genomic Assault: Integrating DNA Damage Response and Cellular Metabolism
Ma, W., & Zhou, S. (2025) · Biomolecules · doi:10.3390/biom15020168 · Cited by 31
XPG: a multitasking genome caretaker
Muniesa-Vargas, A., Theil, A. F., Ribeiro-Silva, C., Vermeulen, W., & Lans, H. (2022) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-022-04194-5 · Cited by 23
Self-citation
DNA Double Strand Break and Response Fluorescent Assays: Choices and Interpretation
Atkinson, J., Bezak, E., Le, H. V., & Kempson, I. M. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25042227 · Cited by 25
Transcription Blockage by DNA Damage in Nucleotide Excision Repair-Related Neurological Dysfunctions
Kajitani, G. S., Nascimento, L. L. D. S., Neves, M. R. D. C., Leandro, G. D. S., Garcia, C. C. M., & Menck, C. F. M. (2021) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2020.10.009 · Cited by 22
RNA splicing, cell signaling, and response to therapies
Fayçal, C. A., Gazzéri, S., & Eymin, B. (2015) · Current Opinion in Oncology · doi:10.1097/cco.0000000000000254 · Cited by 22
Damage removal and gap filling in nucleotide excision repair
Kemp, M. G. (2019) · The Enzymes · doi:10.1016/bs.enz.2019.06.001 · Cited by 27
Widespread BRCA1/2-independent homologous recombination defects are caused by alterations in RNA-binding proteins
McGrail, D. J., Li, Y., Smith, R. S., Feng, B., Dai, H., Hu, L., Dennehey, B. K., Awasthi, S., Mendillo, M. L., Sood, A. K., et al. (2023) · Cell Reports Medicine · doi:10.1016/j.xcrm.2023.101255 · Cited by 24
Chromatin modifiers and remodellers in DNA repair and signalling
Jeggo, P. A., Downs, J. A., & Gasser, S. M. (2017) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2016.0279 · Cited by 19
SF3B1-targeted Splicing Inhibition Triggers Transcriptional Stress Response and Global Alterations in R-Loop LandscapePreprint
Castillo-Guzman, D., Hartono, S. R., Frederick, M. H., Sanz, L. A., Sereiva, T., & Chedin, F. L. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.08.130583 · Cited by 25
SF3B1 mutant myelodysplastic syndrome: Recent advances
Pellagatti, A., & Boultwood, J. (2020) · Advances in Biological Regulation · doi:10.1016/j.jbior.2020.100776 · Cited by 20
Depletion of the MFAP1/SPP381 Splicing Factor Causes R-Loop-Independent Genome Instability
Salas‐Armenteros, I., Barroso, S. I., Rondón, A. G., Pérez-Alegre, M., Andújar, E., Luna, R., & Aguilera, A. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.07.010 · Cited by 22
A-T neurodegeneration and DNA damage-induced transcriptional stress
Paull, T. T., & Woolley, P. R. (2024) · DNA repair · doi:10.1016/j.dnarep.2024.103647 · Cited by 17
Unique role of DDX41, a DEAD-box type RNA helicase, in hematopoiesis and leukemogenesis
Shinriki, S., & Matsui, H. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.992340 · Cited by 19
Bidirectional coupling of splicing and ATM signaling in response to transcription-blocking DNA damage
Tresini, M., Marteijn, J. A. F., & Vermeulen, W. (2016) · RNA Biology · doi:10.1080/15476286.2016.1142039 · Cited by 19
Self-citation
Nanodiamond-Based Sensing: A revolution for biosensors in capturing elusive bio-signals in living cells
Zhang, J., Ma, L., Hou, Y. X., Ouyang, H., Hong, H., Kim, K., Kang, H., & Chu, Z. (2025) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2025.115590 · Cited by 18
Coordination of RNA Processing Regulation by Signal Transduction Pathways
Ruta, V., Pagliarini, V., & Sette, C. (2021) · Biomolecules · doi:10.3390/biom11101475 · Cited by 20
Splicing stimulates siRNA formation at Drosophila DNA double-strand breaks
Merk, K., Breinig, M., Böttcher, R., Krebs, S., Blum, H., Boutros, M., & Förstemann, K. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006861 · Cited by 17
Epigenetic Regulation of Nucleotide Excision Repair
Li, W., Jones, K., Burke, T. J., Hossain, M. A., & Lariscy, L. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.847051 · Cited by 17
TDP1 mutation causing SCAN1 neurodegenerative syndrome hampers the repair of transcriptional DNA double-strand breaks
Géraud, M., Cristini, A., Salimbeni, S., Béry, N., Jouffret, V., Russo, M. V., Ajello, A. C., Martinez, L. F., Marinello, J., Cordelier, P., et al. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114214 · Cited by 18
DNA damage-induced ATM- and Rad-3-related (ATR) kinase activation in non-replicating cells is regulated by the XPB subunit of transcription factor IIH (TFIIH)
Kemp, M. G. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.788406 · Cited by 19
Formation of 53BP1 foci and ATM activation under oxidative stress is facilitated by RNA:DNA hybrids and loss of ATM-53BP1 expression promotes photoreceptor cell survival in mice
Bhatia, V., Valdés-Sánchez, L., Rodríguez–Martínez, D., & Bhattacharya, S. S. (2018) · F1000Research · doi:10.12688/f1000research.15579.1 · Cited by 17
Ecd promotes U5 snRNP maturation and Prp8 stability
Erkelenz, S., Stanković, D., Mundorf, J., Bresser, T., Claudius, A.-K., Boehm, V., Gehring, N. H., & Uhlířová, M. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa1274 · Cited by 17
PRP8A and PRP8B spliceosome subunits act coordinately to control pollen tube attraction in Arabidopsis thaliana
Kulichová, K., Kumar, V., Steinbachová, L., Klodová, B., Timofejeva, L., Juříček, M., Honys, D., & Hafidh, S. (2020) · Development · doi:10.1242/dev.186742 · Cited by 17
The Role for the DSB Response Pathway in Regulating Chromosome Translocations
Ghosh, R., Das, D., & Franco, S. (2018) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-0593-1_6 · Cited by 16
GSK-3 is an RNA polymerase II phospho-CTD kinase
Moreno, N. N., Villafañez, F., Giono, L. E., Cuenca, C., Soria, G., Muñoz, M. J., & Kornblihtt, A. R. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa322 · Cited by 16
High-LET Carbon and Iron Ions Elicit a Prolonged and Amplified p53 Signaling and Inflammatory Response Compared to low-LET X-Rays in Human Peripheral Blood Mononuclear Cells
Macaeva, E., Tabury, K., Michaux, A., Janssen, A., Averbeck, N., Moreels, M., Vos, W. H. D., Baatout, S., & Quintens, R. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.768493 · Cited by 15
Mechanisms of transcription-coupled repair and DNA damage surveillance in health and disease
van Sluis, M., Gonzalo-Hansen, C., Li, Q., Lans, H., Wang, D., & Marteijn, J. A. F. (2025) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-025-00915-3 · Cited by 21
Self-citation
Alternative mRNA processing sites decrease genetic variability while increasing functional diversity
Auboeuf, D. (2017) · Transcription · doi:10.1080/21541264.2017.1373891 · Cited by 13
Transcription Blockage Leads to New Beginnings
de Andrade-Lima, L. C., Veloso, A., & Ljungman, M. E. (2015) · Biomolecules · doi:10.3390/biom5031600 · Cited by 15
Inducible SMARCAL1 knockdown in iPSC reveals a link between replication stress and altered expression of master differentiation genes
Pugliese, G. M., Salaris, F., Palermo, V., Marabitti, V., Morina, N., Rosa, A., Franchitto, A., & Pichierri, P. (2019) · Disease Models & Mechanisms · doi:10.1242/dmm.039487 · Cited by 14
Xrp1 governs the stress response program to spliceosome dysfunction
Stanković, D., Tain, L. S., & Uhlířová, M. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae055 · Cited by 14
Therapy-induced secretion of spliceosomal components mediates pro-survival crosstalk between ovarian cancer cells
Shender, V. О., Anufrieva, K. S., Shnaider, P. V., Arapidi, G. P., Pavlyukov, M. S., Ivanova, O. M., Malyants, I. K., Stepanov, G. A., Zhuravlev, E. S., Ziganshin, R., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-49512-6 · Cited by 13
DNA damage response
Coon, E. A., & Benarroch, E. E. (2018) · Neurology · doi:10.1212/wnl.0000000000004989 · Cited by 13
Emerging roles of RNA modifications in genome integrity
Lee, S. Y., Kim, J. J., & Miller, K. M. (2020) · Briefings in Functional Genomics · doi:10.1093/bfgp/elaa022 · Cited by 14
XAB2 dynamics during DNA damage-dependent transcription inhibition
Donnio, L., Cerutti, E., Magnani, C., Neuillet, D., Mari, P., & Giglia‐Mari, G. (2022) · eLife · doi:10.7554/elife.77094 · Cited by 14
Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations
Nazlamova, L., Vasquez, S. S. V., Lord, J., Karthik, V., Cheung, M., Lakowski, J., & Wheway, G. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.1009430 · Cited by 12
Recurrent germline variant in ATM associated with familial myeloproliferative neoplasms
Braunstein, E. M., Imada, E. L., Paşca, S., Wang, S., Chen, H., Alba, C., Hupalo, D. N., Wilkerson, M. D., Dalgard, C. L., Ghannam, J. Y., et al. (2022) · Leukemia · doi:10.1038/s41375-022-01797-6 · Cited by 12
Radiation-induced alternative transcripts as detected in total and polysome-bound mRNA
Wahba, A., Ryan, M., Shankavaram, U. T., Camphausen, K. A., & Tofilon, P. J. (2017) · Oncotarget · doi:10.18632/oncotarget.21672 · Cited by 12
Transcription-associated DNA breaks and cancer: A matter of DNA topology
Cristini, A., Géraud, M., & Sordet, O. (2021) · International review of cytology · doi:10.1016/bs.ircmb.2021.05.001 · Cited by 12
RNAPII-dependent ATM signaling at collisions with replication forks
Einig, E., Jin, C., Andrioletti, V., Maček, B., & Popov, N. (2023) · Nature Communications · doi:10.1038/s41467-023-40924-4 · Cited by 12
Transcription coupled repair deficiency protects against human mutagenesis and carcinogenesis
Cleaver, J. E. (2017) · DNA repair · doi:10.1016/j.dnarep.2017.08.004 · Cited by 13
Fast mutual exclusivity algorithm nominates potential synthetic lethal gene pairs through brute force matrix product computations
Fedrizzi, T., Ciani, Y., Lorenzin, F., Cantore, T., Gasperini, P., & Demichelis, F. (2021) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2021.08.001 · Cited by 10
Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line
Lin, L., Swerdel, M. R., Lazaropoulos, M. P., Hoffman, G. S., Toro-Ramos, A. J., Wright, J., Lederman, H. M., Chen, J., Moore, J. C., & Hart, R. P. (2015) · Stem Cell Reports · doi:10.1016/j.stemcr.2015.10.010 · Cited by 11
Reciprocal regulation between alternative splicing and the DNA damage response
Botto, A. E. C., Muñoz, J. C., Giono, L. E., Moreno, N. N., Cuenca, C., Kornblihtt, A. R., & Muñoz, M. J. (2020) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2019-0111 · Cited by 11
MDC1 maintains active elongation complexes of RNA polymerase II
Pappas, G. D., Munk, S. H. N., Watanabe, K., Thomas, Q. A., Gál, Z., Gram, H. H., Lee, M., Gómez-Cabello, D., Kanellis, D. C., Olivares‐Chauvet, P., et al. (2023) · Cell Reports · doi:10.1016/j.celrep.2022.111979 · Cited by 12
DNA Damage Regulates the Functions of the RNA Binding Protein Sam68 through ATM-Dependent Phosphorylation
Stagni, V., Orecchia, S., Mignini, L., Beji, S., Antonioni, A., Caggiano, C., Barilà, D., Bielli, P., & Sette, C. (2022) · Cancers · doi:10.3390/cancers14163847 · Cited by 12
MED1, a novel binding partner of BRCA1, regulates homologous recombination and R-loop processing
Honjoh, H., Tanikawa, M., Wada‐Hiraike, O., Oda, K., Inaba, H., Kukita, A., Kawata, Y., Kusakabe, M., Tsuchimochi, S., Taguchi, A., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-21495-8 · Cited by 10
The Cockayne syndrome protein B is involved in the repair of 5-AZA-2′-deoxycytidine-induced DNA lesions
Burgos‐Morón, E., Calderón‐Montaño, J. M., Pastor, N., Höglund, A., Ruiz-Castizo, Á., Domı́nguez, I., López‐Lázaro, M., Hajji, N., Helleday, T., Mateos, S., et al. (2018) · Oncotarget · doi:10.18632/oncotarget.26189 · Cited by 9
Looping forward: exploring R‐loop processing and therapeutic potential
Stratigi, K., Siametis, A., & Garinis, G. A. (2024) · FEBS Letters · doi:10.1002/1873-3468.14947 · Cited by 9
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa
Wheway, G., Nazlamova, L., Meshad, N., Hunt, S. V., Jackson, N. P., & Churchill, A. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00248 · Cited by 9
The UVSSA complex alleviates MYC-driven transcription stress
Sato, M., Liebau, R. C., Liu, Z., Liu, L., Rabadán, R., & Gautier, J. (2021) · The Journal of Cell Biology · doi:10.1083/jcb.201807163 · Cited by 8
RNA Damage Responses in Cellular Homeostasis, Genome Stability, and Disease
Zaher, H. S., & Mosammaparast, N. (2024) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-111523-023516 · Cited by 8
Transcription‐coupled repair: tangled up in convoluted repair
Schiffmacher, D. A. L., Pai, Y. J., Pines, A., & Vermeulen, W. (2025) · FEBS Journal · doi:10.1111/febs.70104 · Cited by 10
Self-citation
Noncanonical ATM Activation and Signaling in Response to Transcription-Blocking DNA Damage
Marteijn, J. A. F., Vermeulen, W., & Tresini, M. (2017) · Methods in molecular biology · doi:10.1007/978-1-4939-6955-5_25 · Cited by 8
Self-citation
Sources and consequences of oxidative damage from mitochondria and neurotransmitter signaling
Brennan, A., Arron, S. T., Chou, K.-M., Cunningham, E. P., & Cleaver, J. E. (2016) · Environmental and Molecular Mutagenesis · doi:10.1002/em.21995 · Cited by 9
Transcriptome analysis of differentially expressed genes and pathways associated with mitoxantrone treatment prostate cancer
Li, S., Li, R., Ma, Y., Zhang, C., Huang, T., & Zhu, S. (2018) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.14100 · Cited by 8
Participation of ATM, SMG1, and DDX5 in a DNA Damage-Induced Alternative Splicing Pathway
McCann, J. J., Fleenor, D. E., Chen, J., Lai, C.-H., Bass, T. E., & Kastan, M. B. (2023) · Radiation Research · doi:10.1667/rade-22-00219.1 · Cited by 7
Mechanisms of non-canonical activation of ataxia telangiectasia mutated
Khoronenkova, S. V. (2016) · Biochemistry (Moscow) · doi:10.1134/s0006297916130058 · Cited by 8
Unraveling R-loops: The hidden drivers of inflammation and immune dysregulation
Zhang, F., Wang, D., Zhao, G., & Wang, D. (2025) · Medicine · doi:10.1097/md.0000000000042833 · Cited by 6
Reduced DNA Repair Capacity in Prostate Cancer Patients: A Phenotypic Approach Using the CometChip
Ortíz, C., Encarnación-Medina, J., Park, J. Y., Moreno, N., Ruiz-Deyá, G., & Matta, J. L. (2022) · Cancers · doi:10.3390/cancers14133117 · Cited by 6
R-Loop Formation in Meiosis: Roles in Meiotic Transcription-Associated DNA Damage
Fujiwara, Y., Handel, M. A., & Okada, Y. (2022) · Epigenomes · doi:10.3390/epigenomes6030026 · Cited by 6
Proteomic Analysis Implicates Dominant Alterations of RNA Metabolism and the Proteasome Pathway in the Cellular Response to Carbon-Ion Irradiation
Wang, Y., Guan, H., Xie, D.-F., Xie, Y., Liu, X.-D., Wang, Q., Sui, L., Song, M. S., Zhang, H., Zhou, J., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0163896 · Cited by 6
Dietary Restriction Mitigates Vascular Aging, Modulates the cGAS ‐ STING Pathway and Reverses Macrophage‐Like VSMC Phenotypes in Progeroid DNA ‐Repair‐Deficient Ercc1 Δ /− Mice
Stefens, S. J. M., van der Linden, J., Heredia‐Genestar, J. M., Brandt, R. M. C., Barnhoorn, S., Nieuwenhuizen‐Bakker, I., van Vliet, N., Odijk, J. H. M., Ridwan, Y. R., Stuijts, D., et al. (2025) · Aging Cell · doi:10.1111/acel.70062 · Cited by 6
Self-citation
Phosphorylation of SF3B1 by CDK11 orchestrates spliceosome activation via SNIP1-dependent RES complex recruitment
Gajdušková, P., Mozos, I. R. D. L., Hluchý, M., Myšková, A., Zábrady, K., Maník, P., Dragišić, N., Hanáková, K., Potěšil, D., Bologna, S., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-71119-2 · Cited by 8
Oxidized ATM governs stemness of breast cancer stem cell through regulating ubiquitylation and acetylation switch
Zhou, X., Liu, X., Wan, X., Xu, M., Wang, R., Yang, D., Peng, M., Jin, T., Tang, R., Liu, M., et al. (2023) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2023.149243 · Cited by 5
The UVSSA protein is part of a genome integrity homeostasis network with links to transcription-coupled DNA repair and ATM signaling
Kordon-Kiszala, M., Arron, S. T., Cleaver, J. E., Bezrookove, V., Karentz, D., Lu, B., Perr, E., Chang, D., & Pederson, T. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2116254119 · Cited by 5
Safeguarding DNA Replication: A Golden Touch of MiDAS and Other Mechanisms
Nachar, B. A. A., & Rosselli, F. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231911331 · Cited by 5
In Cerebellar Atrophy of 12-Month-Old ATM-Null Mice, Transcriptome Upregulations Concern Most Neurotransmission and Neuropeptide Pathways, While Downregulations Affect Prominently Itpr1, Usp2 and Non-Coding RNA
Reichlmeir, M., Canet-Pons, J., Koepf, G., Nurieva, W., Duecker, R. P., Döring, C., Abell, K., Key, J., Stokes, M. P., Zielen, S., et al. (2023) · Cells · doi:10.3390/cells12192399 · Cited by 4
WRNIP1 prevents transcription-associated genomic instability
Valenzisi, P., Marabitti, V., Pichierri, P., & Franchitto, A. (2024) · eLife · doi:10.7554/elife.89981.3 · Cited by 5
Transcription and genome integrity
Ljungman, M. E. (2022) · DNA repair · doi:10.1016/j.dnarep.2022.103373 · Cited by 5
Genome evolution is driven by gene expression‐generated biophysical constraints through RNA‐directed genetic variation: A hypothesis
Auboeuf, D. (2017) · BioEssays · doi:10.1002/bies.201700069 · Cited by 5
Aquarius helicase facilitates HIV-1 integration into R-loop enriched genomic regions
Penzo, C., Özel, I., Martinovic, M., Kuzman, M., Glavaš, D., Stanić, M., Reichenbach, T., Müller, T. G., Rheinberger, M., Godarzi, N., et al. (2025) · Nature Microbiology · doi:10.1038/s41564-025-02089-2 · Cited by 4
SRSF2 overexpression induces transcription-/replication-dependent DNA double-strand breaks and interferes with DNA repair pathways to promote lung tumor progression
Khalifé, M., Jia, T., Caron, P., Shreim, A., Genoux, A., Cristini, A., Pucciarelli, A., Leverve, M., Lepeltier, N., García‐Rodríguez, N., et al. (2025) · NAR Cancer · doi:10.1093/narcan/zcaf011 · Cited by 4
Transcription coupled DNA repair protein UVSSA binds to DNA and RNA: Mapping of nucleic acid interaction sites on human UVSSA
Mistry, H., & Gupta, G. D. (2023) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2023.109515 · Cited by 4
Enhanced frequency of transcription pre-initiation complexes assembly after exposure to UV irradiation results in increased repair activity and reduced probabilities for mutagenesis
Liakos, A., Synacheri, A., Konstantopoulos, D., Stefos, G. C., Lavigne, M. D., & Fousteri, M. I. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad593 · Cited by 4
Chromatin Dynamics and DNA Repair
Agarwal, P., & Miller, K. M. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803395-1.00011-3 · Cited by 5

Authors: Tresini, M., Warmerdam, D. O., Kolovos, P., Snijder, L., Vrouwe, M. G., Demmers, J. A. A., van IJcken, W. F. J., Grosveld, F. G., Medema, R. H., Hoeijmakers, J. H. J., Mullenders, L. H. F., Vermeulen, W., & Marteijn, J. A.
Affiliations: Erasmus MC (NL)
The Netherlands Cancer Institute (NL)
Leiden University Medical Center (NL)
Corresponding author: Tresini, Maria
Vermeulen, Wim
Marteijn, Jurgen A.
ORCID: Tresini, Maria
Warmerdam, Daniël O.
Kolovos, Petros
Demmers, Jeroen A. A.
Grosveld, Frank G.
Medema, René H.
Hoeijmakers, Jan H. J.
Vermeulen, Wim
Marteijn, Jurgen A.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2015-06-24
Volume: 523
Issue: 7558
Pages: 53-58
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature14512
PMC: PMC4501432
OpenAlex: W1823908009
Cited by: 252
References: 45
Citations by year: 2026: 8 · 2025: 13 · 2024: 22 · 2023: 21 · 2022: 22 · 2021: 20 · 2020: 24 · 2019: 25 · 2018: 27 · 2017: 31 · 2016: 25 · 2015: 14
FWCI: 14.03
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
PubMed Central (acceptedVersion)
Pure Amsterdam UMC (submittedVersion, cc-by)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
Data Archiving and Networked Services (DANS) (submittedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Leiden Repository (Leiden University) (submittedVersion)
Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
RePub (Erasmus University Rotterdam) (submittedVersion)
Utrecht University Repository (Utrecht University) (submittedVersion)
Funders: ZonMw (912.12.132, 912.08.031, 854.11.002)
Nederlandse Organisatie voor Wetenschappelijk Onderzoek (935.11.042, 823.02.013, 854.11.002, 912.12.132, 912.08.031)
National Institute on Aging (P01AG017242)
FP7 Ideas: European Research Council (340988, 233424)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Keywords: ATM kinase, alternative splicing, DNA damage response, R-loops, U2 snRNP, U5 snRNP, UV irradiation, RNA polymerase pausing, feed-forward loop, nascent RNA
MeSH terms: Cell Line, Chromatin, DNA Damage, Enzyme Activation, Humans, DNA-Directed RNA Polymerases, Ultraviolet Rays, Signal Transduction, Spliceosomes, Alternative Splicing, Ataxia Telangiectasia Mutated Proteins

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

The core spliceosome as target and effector of non-canonical ATM signalling

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks