ArticleLeukemia2014
Epigenetic regulation of GATA2 and its impact on normal karyotype acute myeloid leukemia.
Article in Leukemia, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 38 citations in OpenAlex.
- PML::RARA and GATA2 proteins interact via DNA templates to induce aberrant self-renewal in mouse and human hematopoietic cells.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- TET2 lesions enhance the aggressiveness of CEBPA-mutant acute myeloid leukemia by rebalancing GATA2 expression.Nature communications · 2023Article
- Role of the pioneer transcription factor GATA2 in health and disease.Journal of molecular medicine (Berlin, Germany) · 2023Review
- High trophinin-associated protein expression predicts good survival in acute myeloid leukemia with normal cytogenetics.Cancer biomarkers : section A of Disease markers · 2023Article
- Epigenetic changes in human model KMT2A leukemias highlight early events during leukemogenesis.Haematologica · 2022Article
- Article
- Allele-specific expression of GATA2 due to epigenetic dysregulation in CEBPA double-mutant AML.Blood · 2021Article
- Whole genome, exon mutation and transcriptomic profiling of acute myeloid leukemia: A case report.Oncology letters · 2021Article
- Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?Blood advances · 2020Review
- Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).Blood · 2020Review
- GATA2 +9.5 enhancer: from principles of hematopoiesis to genetic diagnosis in precision medicine.Current opinion in hematology · 2020Review
- Article
- Phenotypic heterogeneity associated with germlineLeukemia & lymphoma · 2019Article
- A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing.Nature communications · 2019Article
- Allelic Imbalance of Recurrently Mutated Genes in Acute Myeloid Leukaemia.Scientific reports · 2019Article
- GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.Leukemia · 2018Article
- Germline GATA2 Mutation and Bone Marrow Failure.Hematology/oncology clinics of North America · 2018Review
- Heterogeneity of GATA2-related myeloid neoplasms.International journal of hematology · 2017Review
- Universal attenuators and their interactions with feedback loops in gene regulatory networks.Nucleic acids research · 2017Article
- The role of GATA2 in lethal prostate cancer aggressiveness.Nature reviews. Urology · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The GATA2 gene encodes a zinc-finger transcription factor that acts as a master regulator of normal hematopoiesis. Mutations in GATA2 have been implicated in the development of myelodysplastic syndrome and acute myeloid leukemia (AML). Using RNA sequencing we now report that GATA2 is either mutated with a functional consequence, or expressed at low levels in the majority of normal karyotype AML (NK-AML). We also show that low-GATA2-expressing specimens (GATA2(low)) exhibit allele-specific expression (ASE) (skewing) in more than half of AML patients examined. We demonstrate that the hypermethylation of the silenced allele can be reversed by exposure to demethylating agents, which also restores biallelic expression of GATA2. We show that GATA2(low) AML lack the prototypical R882 mutation in DNMT3A frequently observed in NK-AML patients and that The Cancer Genome Atlas AML specimens with DNMT3A R882 mutations are characterized by CpG hypomethylation of GATA2. Finally, we validate that several known missense single-nucleotide polymorphisms in GATA2 are actually loss-of-function variants, which, when combined with ASE, represent the equivalent of homozygous GATA2 mutations. From a broader perspective, this work suggests for the first time that determinants of ASE likely have a key role in human leukemia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.