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NPM1 functions in epitranscriptomics

A new study identifies germline NPM1 mutations in people with dyskeratosis congenita. These NPM1 mutations inhibit ribosomal RNA 2´-O-methylation by decreasing the binding of the rRNA methyltransferase FBL to small nucleolar RNAs. Thus, NPM1 influences ribosomal functions via epitranscriptomic regulation.

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Fig. 1: NPM1 functions as an rRNA 2´-O-Me regulator.


  1. Piekna-Przybylska, D., Decatur, W. A. & Fournier, M. J. Nucleic Acids Res. 36, D178–D183 (2008).

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

  3. Ruggero, D. et al. Science 299, 259–262 (2003).

    Article  CAS  Google Scholar 

  4. Schwartz, S. et al. Cell 159, 148–162 (2014).

    Article  CAS  Google Scholar 

  5. Marcel, V. et al. Cancer Cell 24, 318–330 (2013).

    Article  CAS  Google Scholar 

  6. Zhou, F. et al. Nat. Cell Biol. 19, 844–855 (2017).

    Article  CAS  Google Scholar 

  7. Nachmani, D. et al. Nat. Genet. (2019).

  8. Signer, R. A., Magee, J. A., Salic, A. & Morrison, S. J. Nature 509, 49–54 (2014).

    Article  CAS  Google Scholar 

  9. Blanco, S. et al. Nature 534, 335–340 (2016).

    Article  CAS  Google Scholar 

  10. Marchand, V., Blanloeil-Oillo, F., Helm, M. & Motorin, Y. Nucleic Acids Res. 44, e135 (2016).

    Article  Google Scholar 

Download references

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Correspondence to Carsten Müller-Tidow.

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Zhou, F., Müller-Tidow, C. NPM1 functions in epitranscriptomics. Nat Genet 51, 1436–1437 (2019).

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