ArticleBlood2022
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.
Article in Blood, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- A quantitative dissection of the DNA-binding properties of pathogenic GATA1 mutants.The FEBS journal · 2026Article
- Quantitative analysis of DNA-GATA1 binding alterations linked to hematopoietic disorders.The FEBS journal · 2026Article
- Article
- A novelHaematologica · 2026Article
- Review
- Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes.Science (New York, N.Y.) · 2025Article
- Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia.Cell stem cell · 2025Article
- Enhancement of PRMT6 binding to a novel germlineHaematologica · 2024Article
- Erythroid-intrinsic activation of TLR8 impairs erythropoiesis in inherited anemia.Nature communications · 2024Article
- A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching.BMC medical genomics · 2024Article
- GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.Advances in experimental medicine and biology · 2024Review
- Multidimensional profiling reveals GATA1-modulated stage-specific chromatin states and functional associations during human erythropoiesis.Nucleic acids research · 2023Article
- Gata1s mutant mice display persistent defects in the erythroid lineage.Blood advances · 2023Article
- Article
- The role of GATA2 in adult hematopoiesis and cell fate determination.Frontiers in cell and developmental biology · 2023Review
- Article
- NovelCells · 2022Article
- Erythroid Cell Research: 3D Chromatin, Transcription Factors and Beyond.International journal of molecular sciences · 2022Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
32 authors at 8 institutions in 4 countries.
Funding
Abstract
Master regulators, such as the hematopoietic transcription factor (TF) GATA1, play an essential role in orchestrating lineage commitment and differentiation. However, the precise mechanisms by which such TFs regulate transcription through interactions with specific cis-regulatory elements remain incompletely understood. Here, we describe a form of congenital hemolytic anemia caused by missense mutations in an intrinsically disordered region of GATA1, with a poorly understood role in transcriptional regulation. Through integrative functional approaches, we demonstrate that these mutations perturb GATA1 transcriptional activity by partially impairing nuclear localization and selectively altering precise chromatin occupancy by GATA1. These alterations in chromatin occupancy and concordant chromatin accessibility changes alter faithful gene expression, with failure to both effectively silence and activate select genes necessary for effective terminal red cell production. We demonstrate how disease-causing mutations can reveal regulatory mechanisms that enable the faithful genomic targeting of master TFs during cellular differentiation.
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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.