Publication Date

11-2-2023

Journal

Cell Stem Cell

DOI

10.1016/j.stem.2023.09.011

PMID

37863054

PMCID

PMC10841682

PubMedCentral® Posted Date

11-2-2024

PubMedCentral® Full Text Version

Author MSS

Published Open-Access

yes

Keywords

Animals, Humans, Mice, Adenosine Triphosphatases, Clonal Hematopoiesis, DNA Repair, Epigenesis, Genetic, Hematopoiesis, Mutation, clonal hematopoiesis, lymphoid, SRCAP, hematopoietic stem cells, chromatin remodeling, H2A.Z, DNA damage

Abstract

Somatic mutations accumulate in all cells with age and can confer a selective advantage, leading to clonal expansion over time. In hematopoietic cells, mutations in a subset of genes regulating DNA repair or epigenetics frequently lead to clonal hematopoiesis (CH). Here, we describe the context and mechanisms that lead to enrichment of hematopoietic stem cells (HSCs) with mutations in SRCAP, which encodes a chromatin remodeler that also influences DNA repair. We show that SRCAP mutations confer a selective advantage in human cells and in mice upon treatment with the anthracycline-class chemotherapeutic doxorubicin and bone marrow transplantation. Furthermore, Srcap mutations lead to a lymphoid-biased expansion, driven by loss of SRCAP-regulated H2A.Z deposition and increased DNA repair. Altogether, we demonstrate that SRCAP operates at the intersection of multiple pathways in stem and progenitor cells, offering a new perspective on the functional impact of genetic variants that promote stem cell competition in the hematopoietic system.

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Graphical Abstract

Comments

This article has been corrected. See Cell Stem Cell. 2024 Feb 1;31(2):275.

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