Bonadies, Nicola; Pabst, Thomas; Mueller, Beatrice U (2010). Heterozygous deletion of the PU.1 locus in human AML. Blood, 115(2), pp. 331-4. Washington, D.C.: American Society of Hematology 10.1182/blood-2009-03-212225
Full text not available from this repository.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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of General Internal Medicine (DAIM) > Clinic of General Internal Medicine > Centre of Competence for General Internal Medicine 04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Medical Oncology |
UniBE Contributor: |
Bonadies, Nicolas, Pabst, Thomas Niklaus, Müller, Beatrice Ursula |
ISSN: |
0006-4971 |
Publisher: |
American Society of Hematology |
Language: |
English |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 14:07 |
Last Modified: |
02 Mar 2023 23:20 |
Publisher DOI: |
10.1182/blood-2009-03-212225 |
PubMed ID: |
19890096 |
Web of Science ID: |
000273622600025 |
URI: |
https://boris.unibe.ch/id/eprint/101 (FactScience: 195878) |
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