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 regul...

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Bibliographic Details
Main Authors: Zhou, Fengbiao (Author) , Müller-Tidow, Carsten (Author)
Format: Article (Journal)
Language:English
Published: 30 September 2019
In: Nature genetics
Year: 2019, Volume: 51, Issue: 10, Pages: 1436-1437
ISSN:1546-1718
DOI:10.1038/s41588-019-0510-z
Online Access:Verlag, Volltext: https://doi.org/10.1038/s41588-019-0510-z
Verlag: https://www.nature.com/articles/s41588-019-0510-z
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Author Notes:Fengbiao Zhou, Carsten Müller-Tidow
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Summary: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.
Item Description:Gesehen am 29.01.2020
Physical Description:Online Resource
ISSN:1546-1718
DOI:10.1038/s41588-019-0510-z