The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Bone Marrow Failure in Fanconi Anemia Is Triggered by an Exacerbated p53/p21 DNA Damage Response that Impairs Hematopoietic Stem and Progenitor Cells
Open accessAbstract
SUMMARY Fanconi anemia (FA) is an inherited DNA repair deficiency syndrome. FA patients undergo progressive bone marrow failure (BMF) during childhood, which frequently requires allogeneic hematopoietic stem cell transplantation. The pathogenesis of this BMF has been elusive to date. Here we found that FA patients exhibit a profound defect in hematopoietic stem and progenitor cells (HSPCs) that is present before the onset of clinical BMF. In response to replicative stress and unresolved DNA damage, p53 is hyperactivated in FA cells and triggers a late p21Cdkn1a-dependent G0/G1 cell-cycle arrest. Knockdown of p53 rescued the HSPC defects observed in several in vitro and in vivo models, including human FA or FA-like cells. Taken together, our results identify an exacerbated p53/p21 “physiological” response to cellular stress and DNA damage accumulation as a central mechanism for progressive HSPC elimination in FA patients, and have implications for clinical care.
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“The first commonality of all these diseases is persistent and universal cell stress that exacerbates the p53/p21 DREAM pathway and leads to senescence, growth arrest, or apoptosis [151, 152, 153].”
From The TP53 tumor suppressor gene: From molecular biology to clinical investigations (2025) · cites this paper as [151]
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The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments
Bustin, S. A., Benes, V., Garson, J. A., Hellemans, J., Huggett, J., Kubista, M., Mueller, R., Nolan, T., Pfaffl, M. W., Shipley, G. L., et al. (2009) · Clinical Chemistry · doi:10.1373/clinchem.2008.112797 · Cited by 16,303
Blinded by the Light: The Growing Complexity of p53
Vousden, K. H., & Prives, C. (2009) · Cell · doi:10.1016/j.cell.2009.04.037 · Cited by 3,163
p21 in cancer: Intricate networks and multiple activities
Abbas, T., & Dutta, A. (2009) · Nature Reviews Cancer · doi:10.1038/nrc2657 · Cited by 2,712
DNA repair pathways as targets for cancer therapy
Helleday, T., Petermann, E., Lundin, C., Hodgson, B., & Sharma, R. A. (2008) · Nature Reviews Cancer · doi:10.1038/nrc2342 · Cited by 1,666
Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age
Rossi, D. J., Bryder, D., Seita, J., Nussenzweig, A., Hoeijmakers, J., & Weissman, I. L. (2007) · Nature · doi:10.1038/nature05862 · Cited by 1,115
Chin, L., Artandi, S. E., Shen, Q., Tam, A., Lee, S.-L., Gottlieb, G. J., Greider, C. W., & DePinho, R. A. (1999) · Cell · doi:10.1016/s0092-8674(00)80762-x · Cited by 979 · cited 2×
“In dyskeratosis congenita, a defect in telomere metabolism and subsequent progressive telomere shortening triggers p53-induced senescence, leading to a delayed BMF in patients (Bellodi et al., 2010; Chin et al., 1999).”
BackgroundHematopoietic Stem Cell Quiescence Promotes Error-Prone DNA Repair and Mutagenesis
Mohrin, M., Bourke, E., Alexander, D., Warr, M. R., Barry-Holson, K., Le Beau, M. M., Morrison, C. G., & Passegué, E. (2010) · Cell Stem Cell · doi:10.1016/j.stem.2010.06.014 · Cited by 599
p53 Regulates Hematopoietic Stem Cell Quiescence
Liu, Y., Elf, S. E., Miyata, Y., Sashida, G., Liu, Y., Huang, G., Di Giandomenico, S., Lee, J. M., Deblasio, A., Menendez, S., et al. (2009) · Cell Stem Cell · doi:10.1016/j.stem.2008.11.006 · Cited by 547
DNA repair is limiting for haematopoietic stem cells during ageing
Nijnik, A., Woodbine, L., Marchetti, C., Dawson, S., Lambe, T., Liu, C., Rodrigues, N. P., Crockford, T. L., Cabuy, E., Vindigni, A., et al. (2007) · Nature · doi:10.1038/nature05875 · Cited by 518
Hematopoietic stem cell defects in mice with deficiency of Fancd2 or Usp1
Parmar, K., Kim, J., Sykes, S. M., Shimamura, A., Stuckert, P., Zhu, K., Hamilton, A., Deloach, M. K., Kutok, J. L., Akashi, K., et al. (2010) · Stem Cells · doi:10.1002/stem.437 · Cited by 113
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Cited by
Kastenhuber, E. R., & Lowe, S. W. (2017) · Cell · doi:10.1016/j.cell.2017.08.028 · Cited by 1,906
DNA damage responses and p53 in the aging process
Ou, H.-L., & Schumacher, B. (2018) · Blood · doi:10.1182/blood-2017-07-746396 · Cited by 377
Fanconi anaemia and cancer: an intricate relationship
Nalepa, G., & Clapp, D. W. (2018) · Nature Reviews Cancer · doi:10.1038/nrc.2017.116 · Cited by 389
The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription
Schwab, R. A., Nieminuszczy, J., Shah, F., Langton, J., Lopez Martinez, D., Liang, C.-C., Cohn, M. A., Gibbons, R. J., Deans, A. J., & Niedzwiedz, W. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.09.012 · Cited by 361
Shao, L., Feng, W., Li, H., Gardner, D., Luo, Y., Wang, Y., Liu, L., Meng, A., Sharpless, N. E., & Zhou, D. (2014) · Blood · doi:10.1182/blood-2013-07-515619 · Cited by 165
Metadata
- Authors
- Ceccaldi, R., Parmar, K., Mouly, E., Delord, M., Kim, J. M., Regairaz, M., Pla, M., Vasquez, N., Zhang, Q.-S., Pondarre, C., Peffault de Latour, R., Gluckman, E., Cavazzana-Calvo, M., Leblanc, T., Larghero, J., Grompe, M., Socié, G., D'Andrea, A. D., & Soulier, J.
- Venue
- Cell Stem Cell
- Publisher
- Elsevier BV
- Published
- 2012-07
- Volume
- 11
- Issue
- 1
- Pages
- 36-49
- ISSN
- 1875-9777 (ISSN-L)
- 1934-5909
- OpenAlex
- W1998984090
- Cited by
- 340
- References
- 10
- FWCI
- 9.99
- Type
- journal article
- Language
- en
- Open access
- bronze
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