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Selective advantage of mutant stem cells in clonal hematopoiesis occurs by attenuating the deleterious effects of inflammation and aging

Jakobsen, N. A.; Turkalj, S.; Zeng, A. G. X.; Stoilova, B.; Metzner, M.; Nagree, M. S.; Shah, S.; Moore, R.; Usukhbayar, B.; Salazar, M. A.; Gafencu, G.-A.; Kennedy, A.; Newman, S.; Kendrick, B. J. L.; Taylor, A. H.; Afinowi-Luitz, R.; Gundle, R.; Watkins, B.; Wheway, K.; Beazley, D.; Murison, A.; Aguilar-Navarro, A. G.; Flores-Figueroa, E.; Dakin, S. G.; Carr, A. J.; Nerlov, C.; Dick, J. E.; Xie, S. Z.; Vyas, P.

2023-09-14 cancer biology
10.1101/2023.09.12.557322 bioRxiv
Show abstract

Clonal hematopoiesis (CH) arises when hematopoietic stem cells (HSC) acquire mutations in genes, including DNMT3A and TET2, conferring a competitive advantage through a mechanism that remains unclear. To gain insight into how CH mutations enable gradual clonal expansion, we used single-cell multi-omics with high-fidelity genotyping on CH bone marrow samples. Most of the selective advantage of mutant cells occurs within HSCs. DNMT3A and TET2-mutant clones expand further in early progenitors, while TET2 mutations accelerate myeloid maturation in a dose-dependent manner. Unexpectedly, both mutant and non-mutant HSCs from CH samples are enriched for inflammatory and aging transcriptomic signatures, compared to HSC from non-CH samples, revealing a non-cell autonomous mechanism. However, DNMT3A and TET2-mutant HSCs have an attenuated inflammatory response relative to wild-type HSCs within the same sample. Our data support a model whereby CH clones are gradually selected because they are more resistant to the deleterious impact of inflammation and aging.

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