ArticleNature genetics2019
Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita.
Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.
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Who cites it
80 citing papers in PubMed, 130 citations in OpenAlex.
- An Epstein-Barr virus-encoded snoRNA directs 2'-O-methylation of human rRNAs to control translation and the viral lytic switch.Cell reports · 2026Article
- Review
- Assessing the contributions of noncoding RNAs in acute myeloid leukemia.Blood neoplasia · 2026Review
- 2'-O-Methylation maintains ribosome structural and translation integrity.Molecular cell · 2026Article
- Clonally Distinct FLT3-TKD Mutations in Host and Donor-Derived AML After Double Cord Blood Transplant: A Case Report.EJHaem · 2026Article
- Article
- Nucleophosmin supports WNT-driven hyperproliferation and tumor initiation.Nature genetics · 2026Article
- Altering rRNA 2'O-methylation pattern during neuronal differentiation is regulated by FMRP.RNA biology · 2025Article
- Nucleolar MED19 regulates 2'-O-methylation of rRNA in supporting cancer cell growth.Nucleic acids research · 2025Article
- Intracellular Mis-Localization of Modified RNA Molecules and Non-Coding RNAs: Facts from Hematologic Malignancies.Current issues in molecular biology · 2025Review
- Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025Review
- Emerging roles of ribosome translation in stem cells and stem cell therapy - a review.Cell & bioscience · 2025Review
- Article
- Ribosomes: from conserved origin to functional/medical mobility and heterogeneity.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Toward the use of nanopore RNA sequencing technologies in the clinic: challenges and opportunities.Nucleic acids research · 2025Review
- Review
- Effect of SNORD113-3/ADAR2 on glycolipid metabolism in glioblastoma via A-to-I editing of PHKA2.Cellular & molecular biology letters · 2025Article
- The detection, function, and therapeutic potential of RNA 2'-O-methylation.The innovation life · 2025Article
- Compartment-specific small non-coding RNA changes and nucleolar defects in human mesial temporal lobe epilepsy.Acta neuropathologica · 2024Article
- Recent advances in AML with mutated NPM1.International journal of hematology · 2024Review
20 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
28 authors at 11 institutions in 7 countries.
Funding
Abstract
RNA modifications are emerging as key determinants of gene expression. However, compelling genetic demonstrations of their relevance to human disease are lacking. Here, we link ribosomal RNA 2'-O-methylation (2'-O-Me) to the etiology of dyskeratosis congenita. We identify nucleophosmin (NPM1) as an essential regulator of 2'-O-Me on rRNA by directly binding C/D box small nucleolar RNAs, thereby modulating translation. We demonstrate the importance of 2'-O-Me-regulated translation for cellular growth, differentiation and hematopoietic stem cell maintenance, and show that Npm1 inactivation in adult hematopoietic stem cells results in bone marrow failure. We identify NPM1 germline mutations in patients with dyskeratosis congenita presenting with bone marrow failure and demonstrate that they are deficient in small nucleolar RNA binding. Mice harboring a dyskeratosis congenita germline Npm1 mutation recapitulate both hematological and nonhematological features of dyskeratosis congenita. Thus, our findings indicate that impaired 2'-O-Me can be etiological to human disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.