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Heterozygous deletion of the PU.1 locus in human AML
Open accessAbstract
The transcription factor PU.1 is essential for myeloid development. Targeted disruption of an upstream regulatory element (URE) decreases PU.1 expression by 80% and leads to acute myeloid leukemia (AML) in mice. Here, we sequenced the URE sequences of PU.1 in 120 AML patients. Four polymorphisms (single nucleotide polymorphisms [SNPs]) in the URE were observed, with homozygosity in all SNPs in 37 patients. Among them, we compared samples at diagnosis and remission, and one patient with cytogenetically normal acute myeloid leukemia M2 was identified with heterozygosity in 3 of the SNPs in the URE at remission. Loss of heterozygosity was further found in this patient at 2 polymorphic sites in the 5′ promoter region and in 2 intronic sites flanking exon 4, thus suggesting loss of heterozygosity covering at least 40 kb of the PU.1 locus. Consistently, PU.1 expression in this patient was markedly reduced. Our study suggests that heterozygous deletion of the PU.1 locus can be associated with human AML.
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“a similar degree of PU.1 impairment is exceedingly rare in human AML”
From Minimal PU.1 reduction induces a preleukemic state and promotes development of acute myeloid leukemia (2015) · cites this paper as [21]
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References 23 · Cited by 33
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Metadata
- Authors
- Bonadies, N., Pabst, T., & Mueller, B. U.
- Affiliations
- Department of Internal Medicine and Clinical Research, University Hospital, and University of Bern, Bern; and
- University Hospital of Bern (CH)
- University of Bern (CH)
- ORCID
- Pabst, Thomas
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2010-01-14
- Volume
- 115
- Issue
- 2
- Pages
- 331-334
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2166413208
- Cited by
- 33
- References
- 23
- Citations by year
- 2026: 1 · 2024: 1 · 2023: 4 · 2022: 2 · 2021: 2 · 2020: 2 · 2019: 3 · 2018: 3 · 2017: 1 · 2015: 7 · 2013: 1
- FWCI
- 1.31
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- BORIS (University Library Bern) (submittedVersion)
- Funders
- National Science Foundation
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (113761)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- PU.1, acute myeloid leukemia, loss of heterozygosity, upstream regulatory sequences, single nucleotide polymorphisms, promoter polymorphism, intronic polymorphism, transcription factor expression, myeloid development, remission
- MeSH terms
- Proto-Oncogene Protein Spi-1, Female, Heterozygote, Humans, Male, Promoter Regions, Genetic, Proto-Oncogene Proteins, Leukemia, Myeloid, Acute, Trans-Activators, Gene Expression Regulation, Leukemic, Sequence Deletion, Loss of Heterozygosity, Polymorphism, Single Nucleotide, Quantitative Trait Loci
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- Bonadies, N., Pabst, T., & Mueller, B. U. (2010). Heterozygous deletion of the PU.1 locus in human AML. Blood. https://doi.org/10.1182/blood-2009-03-212225
