The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.
Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models
Abstract
Nijmegen breakage syndrome (NBS) is a chromosomal fragility disorder that shares clinical and cellular features with ataxia telangiectasia. Here we demonstrate that Nbs1-null B cells are defective in the activation of ataxia-telangiectasia-mutated (Atm) in response to ionizing radiation, whereas ataxia-telangiectasia- and Rad3-related (Atr)-dependent signalling and Atm activation in response to ultraviolet light, inhibitors of DNA replication, or hypotonic stress are intact. Expression of the main human NBS allele rescues the lethality of Nbs1-/- mice, but leads to immunodeficiency, cancer predisposition, a defect in meiotic progression in females and cell-cycle checkpoint defects that are associated with a partial reduction in Atm activity. The Mre11 interaction domain of Nbs1 is essential for viability, whereas the Forkhead-associated (FHA) domain is required for T-cell and oocyte development and efficient DNA damage signalling. Reconstitution of Nbs1 knockout mice with various mutant isoforms demonstrates the biological impact of impaired Nbs1 function at the cellular and organismal level.
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“The MRN complex is important in sensing and processing double-strand DNA breaks, as well as activating downstream DNA damage response proteins that mediate or signal for DNA repair, such as the DNA damage-induced kinase ATM.9–13”
From Mdmx promotes genomic instability independent of p53 and Mdm2 (2015) · cites this paper as [13]
In the citing paper
“Full activation of ATM following DNA double-strand breaks requires Nbs1 of the MRN complex.9,11–13”
From Mdmx promotes genomic instability independent of p53 and Mdm2 (2015) · cites this paper as [13]
Citations
Cites
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 Activation by DNA Double-Strand Breaks Through the Mre11-Rad50-Nbs1 Complex
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Genomic Instability in Mice Lacking Histone H2AX
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Self-citationConserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage
Falck, J., Coates, J., & Jackson, S. P. (2005) · Nature · doi:10.1038/nature03442 · Cited by 1,304
Requirement of the MRN complex for ATM activation by DNA damage
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Histone H2AX phosphorylation is dispensable for the initial recognition of DNA breaks
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Self-citationThe MRE11 complex: at the crossroads of DNA repair and checkpoint signalling
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ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway
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Direct Activation of the ATM Protein Kinase by the Mre11/Rad50/Nbs1 Complex
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H2AX Haploinsufficiency Modifies Genomic Stability and Tumor Susceptibility
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Ta, V. B. T., Bezstarosti, K., Demmers, J., Maculins, T., Schellekens, K., van Gent, D. C., & Persengiev, S. P. (2007) · Nature Precedings · doi:10.1038/npre.2007.1203.1
ATM Deficiency -- A Multifaceted Defect in Lymphocyte Development
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Studies on Mre11-ku interaction and its modulation by ionizing radiations
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Structural Characterization of the DNA Repair Protein Complex SbcC-SbcD of Thermotoga maritima
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Interfering with DNA Damage Signals: Radiosensitizing Prostate Cancer using Small Peptides
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Accumulation of DNA double strand breaks in normal tissue after fractionated low dose irradiation
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Functions of the MRE11-RAD50-NBS1 complex in DNA double strand break repair
Konkow, S. (2012) · DuEPublico (University of Duisburg-Essen)
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Characterization of the mechanisms of ATM activation by the MRN complex and DNA
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Using Recombineering Technology to Create Genetically Engineered Mouse Models
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Self-citationUntersuchungen zur Strahlensensitivität von
Zellen, N. (2005)
Schanz, S. (2008) · Zurich Open Repository and Archive (University of Zurich) · doi:10.3929/ethz-a-005710407
Regal, J. A. (2015) · Deep Blue (University of Michigan)
ELUCIDATION OF FACTORS IMPACTING HOMOLOGOUS RECOMBINATION IN MAMMALIAN MEIOSIS
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The interaction between Rad9 and Tousled-like kinase 1 in the cell cycle and the DNA damage response
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C9orf72 expansions disrupt ATM-mediated DNA repair
Walker, C. (2018) · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)
Habib, R., Kim, R., Neitzel, H., Demuth, I., Chrzańowska, K., Seemanová, E., Faber, R., Digweed, M., Jäger, K., Sperling, K., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/571026
Functional Characterization of a Novel Substitution in the Human DNA Repair Protein APLF
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Etude des défauts héréditaires atypiques de la réparation de l'ADN
Fiévet, A. (2019) · theses.fr (ABES) · doi:10.70675/d981a983z0d97z44f5z8430z501446e5ce4d
Prédiction structurale et ingénierie des assemblages macromoléculaires par bioinformatique
Madaoui, H. (2007) · HAL
Metadata
- Authors
- Difilippantonio, S., Celeste, A., Fernandez-Capetillo, O., Chen, H.-T., Martin, B. R. S., Laethem, F. V., Yang, Y.-P., Petukhova, G. V., Eckhaus, M., Feigenbaum, L., Manova, K., Kruhlak, M., Camerini-Otero, R. D., Sharan, S., Nussenzweig, M., & Nussenzweig, A.
- Affiliations
- National Institutes of Health (US)
- National Cancer Institute (US)
- Memorial Sloan Kettering Cancer Center (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Nussenzweig, André
- ORCID
- Venue
- Nature Cell Biology
- Published
- 2005-06-19
- Volume
- 7
- Issue
- 7
- Pages
- 675-685
- ISSN
- 1465-7392 (ISSN-L)
- 1476-4679
- OpenAlex
- W2152456839
- Cited by
- 227
- References
- 47
- Citations by year
- 2025: 2 · 2024: 2 · 2023: 4 · 2022: 1 · 2021: 2 · 2020: 4 · 2019: 7 · 2018: 4 · 2017: 4 · 2016: 2 · 2015: 7 · 2014: 12 · 2013: 16 · 2012: 15
- FWCI
- 12.17
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Cell Biology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Effects of Radiation Exposure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- NBS1, ATM kinase activation, Nijmegen breakage syndrome, ataxia telangiectasia, ATR kinase, ionizing radiation response, DNA replication inhibitors, hypotonic stress, forkhead-associated domain, DNA damage signaling, meiotic progression, cell cycle checkpoints, immunodeficiency, cancer susceptibility, humanized mice
- MeSH terms
- MRE11 Homologue Protein, Animals, B-Lymphocytes, Binding Sites, Cell Cycle, Chromosome Aberrations, Disease Models, Animal, DNA Damage, DNA Replication, DNA-Binding Proteins, Female, Gonads, Humans, Lymphoma, Non-Hodgkin, Male, Mice, Transgenic, Mutation, Nuclear Proteins, Phosphorylation, Syndrome, T-Lymphocytes, Tumor Suppressor Protein p53, Protein Serine-Threonine Kinases, Immunoglobulin Class Switching, Acid Anhydride Hydrolases, Mice, Knockout, ATP-Binding Cassette Transporters, Cell Cycle Proteins, Chromosome Breakage, Genetic Predisposition to Disease, Chromosome Disorders, Tumor Suppressor Proteins, DNA Repair Enzymes, Mice, Ataxia Telangiectasia Mutated Proteins
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