The gata-binding protein 1 (GATA1) gene, located at Xp11.23, encodes a lineage-specific zinc-finger transcription factor required for normal development of erythroid and megakaryocytic lineages. Inherited missense mutations within the zinc-finger domain inhibiting the interaction with the essential cofactor, Friend of GATA1 (FOG1), have been found in familial dyserythropoietic anemia and thrombocytopenia. Somatic mutations leading to production of an alternative protein that retains its intact zinc-finger interaction domain have been identified exclusively in patients with Down syndrome suffering from AMKL or transient myeloproliferative disorder.

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