Crispino Lab

ST. Jude Children's Research Hospital

Memphis · United States

NIH-funded
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NIH R01 · 2025

The role of the N-terminus of GATA1 in erythropoiesis

PROJECT SUMMARY The zinc finger transcription factor GATA1 is essential for development of a subset of hematopoietic lineages, including erythroid cells and megakaryocytes. Inherited mutations in GATA1 are associated with a spectrum of hematopoietic disorders including dyserythropoietic anemia and thrombocytopenia, caused by mutations in the N-terminal zinc finger, Diamond Blackfan Anemia (DBA), caused by mutations that lead to loss of the N-terminal transactivation domain, and hemolytic anemia caused by mutations in an intrinsically disordered region. The focus of this proposal is on understanding the consequences of loss of the N-terminal transactivation domain on red cell development.…

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