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EPITRANSCRIPTOMICS

NPM1 functions in epitranscriptomics

Nature Genetics volume 51, pages 1436–1437 (2019)Cite this article

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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.

The regulatory roles of modifications of DNA and histones (epigenomics) in gene expression and disease are well established, but much less is known about the functional relevance and disease association of RNA modifications (epitranscriptomics). rRNAs are the most abundant and most heavily modified molecules in eukaryotic cells. To date, more than 200 nucleotides have been found to be biochemically modified in rRNA. These post-transcriptional modifications include ribose 2´-OH hydroxyl methylation (2´-O-Me) and conversion of uridine to pseudouridine (pseudouridylation). Of note, the relative abundance of each modification varies among species. For example, 2´-O-Me accounts for less than 10% of all rRNA modifications in Escherichia coli but for more than 50% in human ribosomes1.

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

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  1. Department of Medicine V, Hematology, Oncology and Rheumatology, University of Heidelberg, Heidelberg, Germany

    Fengbiao Zhou & Carsten Müller-Tidow

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  1. Fengbiao Zhou
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  2. Carsten Müller-Tidow
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Correspondence to Carsten Müller-Tidow.

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The authors declare no competing interests.

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Zhou, F., Müller-Tidow, C. NPM1 functions in epitranscriptomics. Nat Genet 51, 1436–1437 (2019). https://doi.org/10.1038/s41588-019-0510-z

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