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Reduced translation of GATA1 in Diamond-Blackfan anemia

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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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Figure 1: The role of GATA1 in DBA.

Debbie Maizels/Nature Publishing Group

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Authors and Affiliations

  1. Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, Jacqueline Boultwood and Andrea Pellagatti are at the Leukaemia & Lymphoma Research Molecular Haematology Unit, University of Oxford, Oxford, UK.,

    Jacqueline Boultwood & Andrea Pellagatti

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  1. Jacqueline Boultwood
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  2. Andrea Pellagatti
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Correspondence to Jacqueline Boultwood.

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The authors declare no competing financial interests.

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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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