Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

Reduced translation of GATA1 in Diamond-Blackfan anemia

Nature Medicine volume 20, pages 703–704 (2014)Cite this article

Subjects

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).

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1: The role of GATA1 in DBA.

Debbie Maizels/Nature Publishing Group

References

  1. Horos, R. & von Lindern, M. Br. J. Haematol. 159, 514–527 (2012).

    CAS  PubMed  Google Scholar 

  2. Draptchinskaia, N. et al. Nat. Genet. 21, 169–175 (1999).

    Article  CAS  Google Scholar 

  3. Narla, A. & Ebert, B.L. Blood 115, 3196–3205 (2010).

    Article  CAS  Google Scholar 

  4. Dutt, S. et al. Blood 117, 2567–2576 (2011).

    Article  CAS  Google Scholar 

  5. Sankaran, V.G. et al. J. Clin. Invest. 122, 2439–2443 (2012).

    Article  CAS  Google Scholar 

  6. Moriguchi, T. & Yamamoto, M. Int. J. Hematol. published online, 10.1007/s12185-014-1568-0 (18 March 2014).

  7. Ludwig, L.S. et al. Nat. Med. 20, 748–753 (2014).

    Article  CAS  Google Scholar 

  8. Cmejlova, J. et al. Haematologica 91, 1456–1464 (2006).

    CAS  PubMed  Google Scholar 

  9. Yip, B.H. et al. Leukemia 26, 2154–2158 (2012).

    Article  CAS  Google Scholar 

  10. Barlow, J.L. et al. Nat. Med. 16, 59–66 (2010).

    Article  CAS  Google Scholar 

  11. McGowan, K.A. et al. Nat. Genet. 40, 963–970 (2008).

    Article  CAS  Google Scholar 

  12. Boultwood, J., Pellagatti, A., McKenzie, A.N. & Wainscoat, J.S. Blood 116, 5803–5811 (2010).

    Article  CAS  Google Scholar 

Download references

Author information

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

Authors
  1. Jacqueline Boultwood
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Andrea Pellagatti
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jacqueline Boultwood.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

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

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/nm.3630

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing