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Journal articles

Beyond DNA repair and chromosome instability—Fanconi anaemia as a cellular senescence-associated syndrome

Abstract : Abstract Fanconi anaemia (FA) is the most frequent inherited bone marrow failure syndrome, due to mutations in genes encoding proteins involved in replication fork protection, DNA interstrand crosslink repair and replication rescue through inducing double-strand break repair and homologous recombination. Clinically, FA is characterised by aplastic anaemia, congenital defects and cancer predisposition. In in vitro studies, FA cells presented hallmarks defining senescent cells, including p53-p21 axis activation, altered telomere length, mitochondrial dysfunction, chromatin alterations, and a pro-inflammatory status. Senescence is a programme leading to proliferation arrest that is involved in different physiological contexts, such as embryogenesis, tissue remodelling and repair and guarantees tumour suppression activity. However, senescence can become a driving force for developmental abnormalities, aging and cancer. Herein, we summarise the current knowledge in the field to highlight the mutual relationships between FA and senescence that lead us to consider FA not only as a DNA repair and chromosome fragility syndrome but also as a “senescence syndrome”.
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Contributor : Filippo Rosselli Connect in order to contact the contributor
Submitted on : Wednesday, October 20, 2021 - 11:46:16 AM
Last modification on : Thursday, January 20, 2022 - 5:02:54 PM
Long-term archiving on: : Friday, January 21, 2022 - 7:38:14 PM


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Anne Helbling-Leclerc, Cécile Garcin, Filippo Rosselli. Beyond DNA repair and chromosome instability—Fanconi anaemia as a cellular senescence-associated syndrome. Cell Death and Differentiation, Nature Publishing Group, 2021, 28 (4), pp.1159-1173. ⟨10.1038/s41418-021-00764-5⟩. ⟨hal-03376720⟩



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