Diamond-Blackfan anemia (DBA) is an inherited hypoplastic anemia characterized by impaired production of erythroid cells, and it is caused by inactivating mutations in ribosomal protein genes in more than half of all cases. A new study in human cells demonstrates that reduced translation of the transcription factor GATA1, as a consequence of ribosomal protein haploinsufficiency, is a crucial factor in mediating the erythroid defect found in DBA (pages 748–753).
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Boultwood, J., Pellagatti, A. Reduced translation of GATA1 in Diamond-Blackfan anemia. Nat Med 20, 703–704 (2014). https://doi.org/10.1038/nm.3630
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DOI: https://doi.org/10.1038/nm.3630
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