Acquired somatic mutations in the transcription factor GATA1 are a defining feature of acute megakaryocytic leukemia in children with Down syndrome. A new study shows that similar inherited GATA1 mutations do not promote leukemia in the absence of trisomy 21 but lead to defects in multiple hematopoietic lineages.
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Mundschau, G., Crispino, J. GATA1s goes germline. Nat Genet 38, 741–742 (2006). https://doi.org/10.1038/ng0706-741
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DOI: https://doi.org/10.1038/ng0706-741