ArticleNature genetics2000
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.
Article in Nature genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 203 papers, 1 of them a synthesis that pooled it.
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Who cites it
203 citing papers in PubMed, 1 synthesis or guideline pooled it, 506 citations in OpenAlex.
- Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.PLoS genetics · 2016Pooled it
- Long-term culture and significant expansion of human Sertoli cells whilst maintaining stable global phenotype and AKT and SMAD1/5 activation.Cell communication and signaling : CCS · 2015Trial
- Thrombotic microangiopathy-like acute kidney injury revealing a germline GATA1 mutation in a child with inherited cytopenia.Pediatric nephrology (Berlin, Germany) · 2026Article
- Quantitative analysis of DNA-GATA1 binding alterations linked to hematopoietic disorders.The FEBS journal · 2026Article
- A quantitative dissection of the DNA-binding properties of pathogenic GATA1 mutants.The FEBS journal · 2026Article
- Article
- Review
- Fast and flexible joint fine-mapping of multiple traits via the Sum of Single Effects model.Nature genetics · 2026Article
- Sequential RNA polymerase II activation drives human hematopoiesis.Cell reports · 2026Article
- Article
- Mechanism of ASF1 engagement by CDAN1.Nature communications · 2025Article
- A novel role for Friend of GATA1 (FOG-1) in regulating cholesterol transport in murine erythropoiesis.PLoS genetics · 2025Article
- Unfriendly protein of GATA1 and mechanisms of bone marrow failure.Haematologica · 2024Article
- Enhancement of PRMT6 binding to a novel germlineHaematologica · 2024Article
- Endogenous small molecule effectors in GATA transcription factor mechanisms governing biological and pathological processes.Experimental hematology · 2024Review
- Mechanism of ASF1 Inhibition by CDAN1.bioRxiv : the preprint server for biology · 2024Article
- GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.Advances in experimental medicine and biology · 2024Review
- Bromodomain and extraterminal (BET) proteins: biological functions, diseases, and targeted therapy.Signal transduction and targeted therapy · 2023Review
- Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.Annals of hematology · 2023Article
- Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.European journal of human genetics : EJHG · 2023Article
143 more citing papers are in PubMed but not listed here.
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 5 institutions in 1 country.
Funding
Abstract
Haematopoietic development is regulated by nuclear protein complexes that coordinate lineage-specific patterns of gene expression. Targeted mutagenesis in embryonic stem cells and mice has revealed roles for the X-linked gene Gata1 in erythrocyte and megakaryocyte differentiation. GATA-1 is the founding member of a family of DNA-binding proteins that recognize the motif WGATAR through a conserved multifunctional domain consisting of two C4-type zinc fingers. Here we describe a family with X-linked dyserythropoietic anaemia and thrombocytopenia due to a substitution of methionine for valine at amino acid 205 of GATA-1. This highly conserved valine is necessary for interaction of the amino-terminal zinc finger of GATA-1 with its essential cofactor, FOG-1 (for friend of GATA-1; refs 9-12). We show that the V205M mutation abrogates the interaction between Gata-1 and Fog-1, inhibiting the ability of Gata-1 to rescue erythroid differentiation in an erythroid cell line deficient for Gata-1 (G1E). Our findings underscore the importance of FOG-1:Gata-1 associations in both megakaryocyte and erythroid development, and suggest that other X-linked anaemias or thrombocytopenias may be caused by defects in GATA1.
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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.