期刊
NATURE GENETICS
卷 51, 期 10, 页码 1436-1437出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41588-019-0510-z
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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.
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