Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion
Open accessAbstract
DNA methyltransferase 3A (DNMT3A) is the most commonly mutated gene in clonal hematopoiesis (CH). Somatic DNMT3A mutations arise in hematopoietic stem cells (HSCs) many years before malignancies develop, but difficulties in comparing their impact before malignancy with wild-type cells have limited the understanding of their contributions to transformation. To circumvent this limitation, we derived normal and DNMT3A mutant lymphoblastoid cell lines from a germline mosaic individual in whom these cells co-existed for nearly 6 decades. Mutant cells dominated the blood system, but not other tissues. Deep sequencing revealed similar mutational burdens and signatures in normal and mutant clones, while epigenetic profiling uncovered the focal erosion of DNA methylation at oncogenic regulatory regions in mutant clones. These regions overlapped with those sensitive to DNMT3A loss after DNMT3A ablation in HSCs and in leukemia samples. These results suggest that DNMT3A maintains a conserved DNA methylation pattern, the erosion of which provides a distinct competitive advantage to hematopoietic cells.
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Stem cells that are expanded in clonal haematopoiesis often have somatic mutations in genes encoding epigenetic regulators such as DNA methyltransferase 3A (DNMT3A).
“Stem cells that are expanded in clonal haematopoiesis often have somatic mutations in genes encoding epigenetic regulators such DNA methyltransferase 3A (DNMT3A)50,51.”
From Ageing and rejuvenation of tissue stem cells and their niches (2023) · cites this paper as [51]
Even partial loss of function of these epigenetic regulators biases the stem cells towards self-renewal and reduced differentiation.
“Broadly, even partial loss of function of these epigenetic regulators biases the stem cells towards self-renewal and reduced differentiation50,51.”
From Ageing and rejuvenation of tissue stem cells and their niches (2023) · cites this paper as [51]
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Clonal hematopoiesis, inflammation, and cardiovascular disorders: a mitochondrial connection
Pileri, F., & Natoli, G. (2022) · Trends in Immunology · doi:10.1016/j.it.2022.07.009 · Cited by 3 · see citing works
Sowing the Seeds of Clonal Hematopoiesis
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- Authors
- Tovy, A., Reyes, J. M., Gundry, M. C., Brunetti, L., Lee-Six, H., Petljak, M., Park, H. J., Guzman, A. G., Rosas, C., Jeffries, A. R., Baple, E., Mill, J., Crosby, A. H., Sency, V., Xin, B., Machado, H. E., Castillo, D., Weitzel, J. N., Li, W., Stratton, M. R., Campbell, P. J., Wang, H., Sanders, M. A., & Goodell, M. A.
- Affiliations
- Baylor College of Medicine (US)
- Wellcome Sanger Institute (GB)
- University of Exeter (GB)
- Cleveland Clinic (US)
- City Of Hope National Medical Center (US)
- Erasmus MC (NL)
- Corresponding author
- Sanders, Mathijs A.
- Goodell, Margaret A.
- ORCID
- Tovy, Ayala
- Reyes, Jaime M.
- Gundry, Michael C.
- Brunetti, Lorenzo
- Lee-Six, Henry
- Petljak, Mia
- Park, Hyun Jung
- Jeffries, Aaron R.
- Baple, Emma
- Mill, Jonathan
- Crosby, Andrew H.
- Machado, Heather E.
- Castillo, Danielle
- Weitzel, Jeffrey N.
- Li, Wei
- Stratton, Michael R.
- Campbell, Peter J.
- Wang, Heng
- Sanders, Mathijs A.
- Goodell, Margaret A.
- Venue
- Cell Stem Cell
- Publisher
- Elsevier BV
- Published
- 2020-08
- Volume
- 27
- Issue
- 2
- Pages
- 326-335.e4
- ISSN
- 1875-9777 (ISSN-L)
- 1934-5909
- PMC
- PMC7494054
- OpenAlex
- W3042780866
- Cited by
- 30
- References
- 56
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 6 · 2023: 2 · 2022: 11 · 2021: 6 · 2020: 3
- FWCI
- 3.47
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 370 d)
- doi.org/10.15223/policy-017 (stm-asf)
- doi.org/10.15223/policy-037 (stm-asf)
- doi.org/10.15223/policy-012 (stm-asf)
- doi.org/10.15223/policy-029 (stm-asf)
- doi.org/10.15223/policy-004 (stm-asf)
- Locations
- Cell stem cell (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Università Politecnica delle Marche (Università Politecnica delle Marche) (submittedVersion)
- Royal Devon and Exeter Research Repository (Royal Devon and Exeter) (submittedVersion)
- Funders
- Wellcome Trust
- National Institutes of Health (CA125123, S10 RR024574, CA242218, CA183252, AG036695, DK092883)
- Baylor College of Medicine
- Edward P. Evans Foundation
- Howard Hughes Medical Institute (CPRIT-RP180672)
- Cancer Prevention and Research Institute of Texas
- Samuel Waxman Cancer Research Foundation
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- DNMT3A mutation, clonal hematopoiesis, germline mosaicism, hematopoietic stem cells, clonal expansion, epigenetic maintenance, mutational burden, lymphoblastoid cell lines
- MeSH terms
- DNA Methyltransferase 3A, Clone Cells, DNA (Cytosine-5-)-Methyltransferases, Hematopoiesis, Mutation, Epigenesis, Genetic
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