p53 downregulates the Fanconi anaemia DNA repair pathway
Open accessAbstract
Germline mutations affecting telomere maintenance or DNA repair may, respectively, cause dyskeratosis congenita or Fanconi anaemia, two clinically related bone marrow failure syndromes. Mice expressing p53 Δ31, a mutant p53 lacking the C terminus, model dyskeratosis congenita. Accordingly, the increased p53 activity in p53Δ31/Δ31 fibroblasts correlated with a decreased expression of 4 genes implicated in telomere syndromes. Here we show that these cells exhibit decreased mRNA levels for additional genes contributing to telomere metabolism, but also, surprisingly, for 12 genes mutated in Fanconi anaemia. Furthermore, p53Δ31/Δ31 fibroblasts exhibit a reduced capacity to repair DNA interstrand crosslinks, a typical feature of Fanconi anaemia cells. Importantly, the p53-dependent downregulation of Fanc genes is largely conserved in human cells. Defective DNA repair is known to activate p53, but our results indicate that, conversely, an increased p53 activity may attenuate the Fanconi anaemia DNA repair pathway, defining a positive regulatory feedback loop.
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Genes encoding proteins of the Fanconi anemia DNA repair pathway are indirectly downregulated by p53 through p21 and DREAM.
“Also, genes encoding for proteins of the Fanconi anemia DNA repair pathway are indirectly downregulated by p53 through p21 and DREAM.174”
From Census and evaluation of p53 target genes (2017) · cites this paper as [174]
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Self-citation
- Authors
- Jaber, S., Toufektchan, E., Lejour, V., Bardot, B., & Toledo, F.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Toledo, Franck
- Venue
- Nature Communications
- Published
- 2016-04-01
- Volume
- 7
- Issue
- 1
- Pages
- 11091-11091
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC4821997
- OpenAlex
- W2319481506
- Cited by
- 61
- References
- 70
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 8 · 2023: 8 · 2022: 4 · 2021: 6 · 2020: 6 · 2019: 5 · 2018: 6 · 2017: 8 · 2016: 1
- FWCI
- 3.47
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- HAL (submittedVersion, cc-by)
- HAL (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Fondation ARC pour la Recherche sur le Cancer
- Fondation de France
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
- Keywords
- p53, Fanconi anemia, DNA repair, interstrand crosslink repair, telomere maintenance, dyskeratosis congenita, bone marrow failure syndromes, gene downregulation
- MeSH terms
- Animals, Cells, Cultured, DNA Repair, Fanconi Anemia, Humans, Down-Regulation, Tumor Suppressor Protein p53, NIH 3T3 Cells, E2F4 Transcription Factor, Mice, Fanconi Anemia Complementation Group D2 Protein, Transcriptome
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