Cited by 513Acute Myeloid Leukemia ResearchGlioma Diagnosis and TreatmentCancer, Hypoxia, and Metabolism

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IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics

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Sasaki, Masato, Knobbe, Christiane B., Munger, Joshua C., Lind, Evan F., Brenner, Dirk, Brüstle, Anne, Harris, Isaac S., Holmes, Roxanne, Wakeham, Andrew, Haight, Jillian, You-Ten, Annick, Li, Wanda Y., Schalm, Stefanie, Su, Shinsan M., Virtanen, Carl, Reifenberger, Guido, Ohashi, Pamela S., Barber, Dwayne L., Figueroa, Maria E., Melnick, Ari, Zúñiga-Pflücker, Juan-Carlos, Mak, Tak W.·2012·Nature

DOI 10.1038/nature11323PMC PMC4005896

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Abstract

Mutations in the IDH1 and IDH2 genes encoding isocitrate dehydrogenases are frequently found in human glioblastomas and cytogenetically normal acute myeloid leukaemias (AML). These alterations are gain-of-function mutations in that they drive the synthesis of the ‘oncometabolite’ R-2-hydroxyglutarate (2HG). It remains unclear how IDH1 and IDH2 mutations modify myeloid cell development and promote leukaemogenesis. Here we report the characterization of conditional knock-in (KI) mice in which the most common IDH1 mutation, IDH1(R132H), is inserted into the endogenous murine Idh1 locus and is expressed in all haematopoietic cells (Vav-KI mice) or specifically in cells of the myeloid lineage (LysM-KI mice). These mutants show increased numbers of early haematopoietic progenitors and develop splenomegaly and anaemia with extramedullary haematopoiesis, suggesting a dysfunctional bone marrow niche. Furthermore, LysM-KI cells have hypermethylated histones and changes to DNA methylation similar to those observed in human IDH1- or IDH2-mutant AML. To our knowledge, our study is the first to describe the generation and characterization of conditional IDH1(R132H)-KI mice, and also the first report to demonstrate the induction of a leukaemic DNA methylation signature in a mouse model. Our report thus sheds light on the mechanistic links between IDH1 mutation and human AML.

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Authors: Sasaki, M., Knobbe, C. B., Munger, J. C., Lind, E. F., Brenner, D., Brüstle, A., Harris, I. S., Holmes, R., Wakeham, A., Haight, J., You-Ten, A., Li, W. Y., Schalm, S., Su, S. M., Virtanen, C., Reifenberger, G., Ohashi, P. S., Barber, D. L., Figueroa, M. E., Melnick, A., Zúñiga-Pflücker, J.-C., & Mak, T. W.
Affiliations: University Health Network (CA)
University of Rochester Medicine (US)
University of Toronto (CA)
Agios Pharmaceuticals (United States) (US)
Heinrich Heine University Düsseldorf (DE)
Cornell University (US)
Corresponding author: Mak, Tak W.
ORCID: Sasaki, Masato
Munger, Joshua C.
Lind, Evan F.
Brenner, Dirk
Harris, Isaac S.
Holmes, Roxanne
Haight, Jillian
Li, Wanda Y.
Schalm, Stefanie
Virtanen, Carl
Reifenberger, Guido
Ohashi, Pamela S.
Barber, Dwayne L.
Melnick, Ari
Mak, Tak W.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2012-07-04
Volume: 488
Issue: 7413
Pages: 656-659
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature11323
PMC: PMC4005896
OpenAlex: W2035409103
Cited by: 513
References: 34
Citations by year: 2026: 5 · 2025: 20 · 2024: 16 · 2023: 27 · 2022: 26 · 2021: 31 · 2020: 28 · 2019: 34 · 2018: 33 · 2017: 44 · 2016: 55 · 2015: 55 · 2014: 53 · 2013: 64 · 2012: 21
FWCI: 41.37
Type: journal article
Language: en
Open access: green
europepmc.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
RePEc: Research Papers in Economics (submittedVersion)
ANU Open Research (Australian National University) (submittedVersion)
Funders: Canadian Institutes of Health Research
National Institute of Allergy and Infectious Diseases (R56AI081773, R01AI081773)
Topics: Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Health Sciences › Medicine › Oncology › Glioma Diagnosis and Treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Hypoxia, and Metabolism
Keywords: IDH1 R132H mutation, isocitrate dehydrogenase, 2-hydroxyglutarate, acute myeloid leukemia, hematopoietic progenitor cells, epigenetics, DNA methylation, histone methylation, conditional knock-in mice, extramedullary hematopoiesis, splenomegaly, anemia
MeSH terms: Aging, Animals, Bone Marrow, Disease Models, Animal, Female, Glioma, Hematopoiesis, Hematopoietic Stem Cells, Histones, Humans, Isocitrate Dehydrogenase, Male, Mutation, Spleen, Leukemia, Myeloid, Acute, CpG Islands, Cell Lineage, DNA Methylation, Myeloid Cells, Epigenesis, Genetic, Mutant Proteins, Mice, Gene Knock-In Techniques

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IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics

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