Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis.

@article{Balduini2004EffectsOT,
  title={Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis.},
  author={Carlo Luigi Balduini and Alessandro Pecci and Giuseppe Loffredo and Paola Izzo and Patrizia Noris and Michela Grosso and Gaetano Bergamaschi and Vittorio Rosti and Umberto Magrini and Iride F Ceresa and Valeria Conti and Vincenzo Poggi and Anna Savoia},
  journal={Thrombosis and haemostasis},
  year={2004},
  volume={91 1},
  pages={129-40}
}
The transcription factor GATA-1, together with its cofactor FOG-1, regulates erythropoiesis and megakaryocytopoiesis. Mutations in the DNA or FOG-1 binding sites of its N-terminal zinc finger result in different illnesses. Alterations of the FOG-1 face are responsible for dyserythropoietic anemia with thrombocytopenia while R216Q, the only mutation identified in the DNA face, induces X-linked thrombocytopenia with thalassemia (XLTT). The former disorder has been studied in detail whereas little… CONTINUE READING
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