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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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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DOI: https://doi.org/10.1038/s41588-019-0510-z