Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans
Open accessAbstract
Clonal hematopoiesis driven by somatic heterozygous TET2 loss is linked to malignant degeneration via consequent aberrant DNA methylation, and possibly to cardiovascular disease via increased cytokine and chemokine expression as reported in mice. Here, we discover a germline TET2 mutation in a lymphoma family. We observe neither unusual predisposition to atherosclerosis nor abnormal pro-inflammatory cytokine or chemokine expression. The latter finding is confirmed in cells from three additional unrelated TET2 germline mutation carriers. The TET2 defect elevates blood DNA methylation levels, especially at active enhancers and cell-type specific regulatory regions with binding sequences of master transcription factors involved in hematopoiesis. The regions display reduced methylation relative to all open chromatin regions in four DNMT3A germline mutation carriers, potentially due to TET2-mediated oxidation. Our findings provide insight into the interplay between epigenetic modulators and transcription factor activity in hematological neoplasia, but do not confirm the putative role of TET2 in atherosclerosis.
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ARCH-associated mutations leading to perturbation of key regulators of DNA methylation, such as TET2 and DNMT3A, alter DNA methylation in a highly locus-specific fashion.
“Past work has demonstrated that ARCH-associated mutations leading to perturbation of key regulators of DNA methylation, such as TET2 and DNMT3A, alter DNA methylation in a highly locus-specific fashion (18, 45).”
From PU.1-Dependent Enhancer Inhibition Separates <i>Tet2</i> -Deficient Hematopoiesis from Malignant Transformation (2022) · cites this paper as [45]
The Results (Blood DNA methylation; page not provided) show that TET2 and DNMT3A mutations produce methylation changes enriched at particular regulatory regions, supporting the locus-specific point. But the studied carriers had germline mutations; these results do not directly establish the same pattern for acquired ARCH-associated mutations. (LLM, conf=0.88)
Experimental — accuracy not yet measuredTET2 and/or DNMT3A mutations associated with early oncogenesis may interfere with PU.1 function due to aberrant methylation of PU.1 binding sites.
“TET2 and/or DNMT3A mutations associated with early oncogenesis may interfere with PU.1 function due to aberrant methylation of PU.1 binding sites (Kaasinen et al., 2019).”
From PU.1 enforces quiescence and limits hematopoietic stem cell expansion during inflammatory stress (2021) · cites this paper as Kaasinen et al., 2019
The Results (Blood DNA methylation; page unavailable) report increased methylation at PU.1 binding sequences in TET2 mutation carriers, and the Discussion says reduced TET2 activity may compromise the action of methyl-sensitive transcription factors such as PU.1. The paper also reports altered methylation at transcription-factor binding regions in DNMT3A carriers, but in the opposite direction; it does not establish that DNMT3A mutations interfere with PU.1 function through this mechanism in early oncogenesis. (LLM, conf=0.85)
Experimental — accuracy not yet measuredSites with aberrant DNA methylation in TET2 or DNMT3A mutant cells are enriched for several key hematopoiesis-regulating transcription factors, including PU.1.
“Sites with aberrant DNA methylation in TET2 or DNMT3A mutant cells are enriched for several key hematopoiesis regulating TF, including PU.1 (28, 45)”
From PU.1-Dependent Enhancer Inhibition Separates <i>Tet2</i> -Deficient Hematopoiesis from Malignant Transformation (2022) · cites this paper as [45]
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Cell of origin epigenetic priming determines susceptibility to Tet2 mutationPreprint
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Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation MutagenesisPreprint
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TET2 and clonal hematopoiesis-related gene variants in patients with acquired pure red cell aplasiaPreprint
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Additional file 5 of Vitamin C boosts DNA demethylation in TET2 germline mutation carriers
Taira, A., Palin, K., Kuosmanen, A., Välimäki, N., Kuittinen, O. M., Kuismin, O., Kaasinen, E., Rajamäki, K., & Aaltonen, L. A. (2024) · Figshare · doi:10.6084/m9.figshare.26561383
Self-citationAdditional file 4 of Vitamin C boosts DNA demethylation in TET2 germline mutation carriers
Taira, A., Palin, K., Kuosmanen, A., Välimäki, N., Kuittinen, O. M., Kuismin, O., Kaasinen, E., Rajamäki, K., & Aaltonen, L. A. (2024) · Figshare · doi:10.6084/m9.figshare.26561380
Self-citationAdditional file 2 of Vitamin C boosts DNA demethylation in TET2 germline mutation carriers
Taira, A., Palin, K., Kuosmanen, A., Välimäki, N., Kuittinen, O. M., Kuismin, O., Kaasinen, E., Rajamäki, K., & Aaltonen, L. A. (2024) · Figshare · doi:10.6084/m9.figshare.26561374
Self-citationAdditional file 6 of Vitamin C boosts DNA demethylation in TET2 germline mutation carriers
Taira, A., Palin, K., Kuosmanen, A., Välimäki, N., Kuittinen, O. M., Kuismin, O., Kaasinen, E., Rajamäki, K., & Aaltonen, L. A. (2024) · Figshare · doi:10.6084/m9.figshare.26561386
Self-citationAdditional file 3 of Vitamin C boosts DNA demethylation in TET2 germline mutation carriers
Taira, A., Palin, K., Kuosmanen, A., Välimäki, N., Kuittinen, O. M., Kuismin, O., Kaasinen, E., Rajamäki, K., & Aaltonen, L. A. (2024) · Figshare · doi:10.6084/m9.figshare.26561377
Self-citationSeethy, A. A., Pethusamy, K., Kushwaha, T., Kumar, G., Talukdar, J., Chaubey, R., Sundaram, U. D., Mahapatra, M., Saxena, R., Dhar, R., et al. (2023) · Figshare · doi:10.6084/m9.figshare.24447590
Additional file 1 of Vitamin C boosts DNA demethylation in TET2 germline mutation carriers
Taira, A., Palin, K., Kuosmanen, A., Välimäki, N., Kuittinen, O. M., Kuismin, O., Kaasinen, E., Rajamäki, K., & Aaltonen, L. A. (2024) · Figshare · doi:10.6084/m9.figshare.26561371
Self-citationGhamlouch, H., Degaud, M., Della-Valle, V., Eeckhoutte, A., Armand, M., Joudat, A., Decaudin, C., Domínguez, P. M., Rosikiewicz, W., Pawlikowska, P., et al. (2026) · HemaSphere · doi:10.1002/hem3.70296
Modeling Chronic Myelomonocytic Leukemia with the Aim of Identifying Novel Therapeutic Targets
Alawieh, D. (2025) · theses.fr (ABES) · doi:10.70675/c7daf13fz397fz4894zbafezd95092b27414
Ünsal, Ş. E. (2026) · Frontiers in Oncology · doi:10.3389/fonc.2026.1943135
- Authors
- Kaasinen, E., Kuismin, O., Rajamäki, K., Ristolainen, H., Aavikko, M., Kondelin, J., Saarinen, S., Berta, D. G., Katainen, R., Hirvonen, E. A. M., Karhu, A., Taira, A., Tanskanen, T., Alkodsi, A., Taipale, M., Morgunova, E., Franssila, K., Lehtonen, R., Mäkinen, M., Aittomäki, K., Palotie, A., Kurki, M. I., Pietiläinen, O., Hilpert, M., Saarentaus, E., Niinimäki, J., Junttila, J., Kaikkonen, K., Vahteristo, P., Skoda, R. C., Seppänen, M. R. J., Eklund, K. K., Taipale, J., Kilpivaara, O., & Aaltonen, L. A.
- Affiliations
- University of Helsinki (FI)
- Karolinska Institutet (SE)
- Helsinki University Hospital (FI)
- University of Oulu (FI)
- Broad Institute (US)
- Massachusetts General Hospital (US)
- University of Basel (CH)
- Oulu University Hospital (FI)
- Corresponding author
- Kilpivaara, Outi
- Aaltonen, Lauri A.
- ORCID
- Kaasinen, Eevi
- Kuismin, Outi
- Rajamäki, Kristiina
- Aavikko, Mervi
- Kondelin, Johanna
- Berta, Davide G.
- Katainen, Riku
- Karhu, Auli
- Taira, Aurora
- Tanskanen, Tomas
- Alkodsi, Amjad
- Taipale, Minna
- Morgunova, Ekaterina
- Lehtonen, Rainer
- Mäkinen, Markus
- Aittomäki, Kristiina
- Palotie, Aarno
- Kurki, Mitja I.
- Pietiläinen, Olli
- Hilpert, Morgane
- Saarentaus, Elmo
- Niinimäki, Jaakko
- Junttila, Juhani
- Kaikkonen, Kari
- Vahteristo, Pia
- Skoda, Radek C.
- Seppänen, Mikko R. J.
- Eklund, Kari K.
- Taipale, Jussi
- Kilpivaara, Outi
- Aaltonen, Lauri A.
- Venue
- Nature Communications
- Published
- 2019-03-19
- Volume
- 10
- Issue
- 1
- Pages
- 1252-1252
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC6424975
- OpenAlex
- W2923622055
- Cited by
- 92
- References
- 76
- Citations by year
- 2026: 3 · 2025: 12 · 2024: 8 · 2023: 19 · 2022: 10 · 2021: 16 · 2020: 22 · 2019: 2
- FWCI
- 8.84
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Työväentutkimus Vuosikirja (submittedVersion)
- Funders
- Massachusetts General Hospital
- Helsingin Yliopisto
- Universität Basel
- Wellcome Trust (UK10K, WT091310)
- Broad Institute
- Medical Research Center Oulu
- Cancer Research UK (28801)
- Academy of Finland (137680, #250345, 260370, 271642, 263164, 312041)
- Opetus- ja Kulttuuriministeriö
- China Scholarship Council
- Lastentautien Tutkimussäätiö
- Oulun Yliopisto
- Maire Lisko Foundation
- Stanley Center for Psychiatric Research, Broad Institute
- 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 › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- TET2, germline mutations, haploinsufficiency, clonal hematopoiesis, DNA methylation, lymphoma, atherosclerosis, inflammatory cytokines, chemokines, DNMT3A, enhancer methylation, transcription factors, epigenetic regulation
- MeSH terms
- Whole Genome Sequencing, DNA Methyltransferase 3A, Adult, Cells, Cultured, DNA (Cytosine-5-)-Methyltransferases, DNA-Binding Proteins, Female, Finland, Hematopoiesis, Hodgkin Disease, Humans, Male, Phenotype, Proto-Oncogene Proteins, Germ-Line Mutation, DNA Methylation, Genetic Predisposition to Disease, RNA, Small Interfering, Epigenesis, Genetic, Dioxygenases, Atherosclerosis, Haploinsufficiency, Primary Cell Culture
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