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Clonal tracing with somatic epimutations reveals dynamics of blood ageing

Abstract:
Current approaches used to track stem cell clones through differentiation require genetic engineering1,2 or rely on sparse somatic DNA variants3,4, which limits their wide application. Here we discover that DNA methylation of a subset of CpG sites reflects cellular differentiation, whereas another subset undergoes stochastic epimutations and can serve as digital barcodes of clonal identity. We demonstrate that targeted single-cell profiling of DNA methylation5 at single-CpG resolution can accurately extract both layers of information. To that end, we develop EPI-Clone, a method for transgene-free lineage tracing at scale. Applied to mouse and human haematopoiesis, we capture hundreds of clonal differentiation trajectories across tens of individuals and 230,358 single cells. In mouse ageing, we demonstrate that myeloid bias and low output of old haematopoietic stem cells6 are restricted to a small number of expanded clones, whereas many functionally young-like clones persist in old age. In human ageing, clones with and without known driver mutations of clonal haematopoieis7 are part of a spectrum of age-related clonal expansions that display similar lineage biases. EPI-Clone enables accurate and transgene-free single-cell lineage tracing on hematopoietic cell state landscapes at scale.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41586-025-09041-8

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Role:
Author
ORCID:
0000-0001-7990-6179
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Role:
Author
ORCID:
0000-0002-2143-986X
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Role:
Author
ORCID:
0009-0004-1274-6317
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Role:
Author
ORCID:
0000-0002-4846-1813


Publisher:
Springer Nature
Journal:
Nature More from this journal
Issue:
643
Pages:
478–487
Article number:
8071
Publication date:
2025-05-21
Acceptance date:
2025-04-17
DOI:
EISSN:
1476-4687
ISSN:
0028-0836


Language:
English
Pubs id:
2125838
Local pid:
pubs:2125838
Deposit date:
2025-05-27
ARK identifier:

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