Altered translation of GATA1 in Diamond-Blackfan anemia

Ribosomal protein deficiency in Diamond-Blackfan anemia impairs protein translation of the key erythroid transcription factor GATA1. Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-Blackfan anemia (DBA)1,2, congenital asplenia3 and T cell leukemia4. Yet, how mutations in genes encoding ubiquitously expressed proteins such as these result in cell-type– and tissue-specific defects remains unknown5. Here, we...