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p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes

Rakotopare, Jeanne, Toledo, Franck·2023·International Journal of Molecular Sciences
DOI 10.3390/ijms241914940
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Abstract

Mice with a constitutive increase in p53 activity exhibited features of dyskeratosis congenita (DC), a bone marrow failure syndrome (BMFS) caused by defective telomere maintenance. Further studies confirmed, in humans and mice, that germline mutations affecting TP53 or its regulator MDM4 may cause short telomeres and alter hematopoiesis, but also revealed features of Diamond–Blackfan anemia (DBA) or Fanconi anemia (FA), two BMFSs, respectively, caused by defects in ribosomal function or DNA repair. p53 downregulates several genes mutated in DC, either by binding to promoter sequences (DKC1) or indirectly via the DREAM repressor complex (RTEL1, DCLRE1B), and the p53-DREAM pathway represses 22 additional telomere-related genes. Interestingly, mutations in any DC-causal gene will cause telomere dysfunction and subsequent p53 activation to further promote the repression of p53-DREAM targets. Similarly, ribosomal dysfunction and DNA lesions cause p53 activation, and p53-DREAM targets include the DBA-causal gene TSR2, at least 9 FA-causal genes, and 38 other genes affecting ribosomes or the FA pathway. Furthermore, patients with BMFSs may exhibit brain abnormalities, and p53-DREAM represses 16 genes mutated in microcephaly or cerebellar hypoplasia. In sum, positive feedback loops and the repertoire of p53-DREAM targets likely contribute to partial phenotypic overlaps between BMFSs of distinct molecular origins.

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Metadata

Authors
Rakotopare, J., & Toledo, F.
Affiliations
Genetics of Tumor Suppression, Institut Curie, CEDEX 05, 75248 Paris, France
ORCID
Venue
International Journal of Molecular Sciences
Publisher
MDPI AG
Published
2023-10-06
Volume
24
Issue
19
Pages
14940
ISSN
1422-0067
DOI
10.3390/ijms241914940
Cited by
14
References
8
Language
en
Licence
creativecommons.org/licenses/by/4.0/ (vor)
Funders
Fondation ARC (ARCPJA2021060003938)

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