ArticleThe EMBO journal2011
Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita.
Article in The EMBO journal, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 57 citations in OpenAlex.
- Disease mutations in the N-terminal extension and α2'-helix of dyskerin do not abolish dimerization but disrupt binding to the telomerase RNA.RNA (New York, N.Y.) · 2026Article
- Review
- Interprotomer communication and functional asymmetry in H/ACA snoRNPs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Expansion of the functional genomics GRACE library reveals genes relevant for temperature-dependent fitness in Candida albicans.PLoS biology · 2025Article
- The interplay between circadian rhythms and aging: molecular mechanisms and therapeutic strategies.Biogerontology · 2025Review
- SnoRNAs: Exploring Their Implication in Human Diseases.International journal of molecular sciences · 2024Review
- Review
- Subverting the Canon: Novel Cancer-Promoting Functions and Mechanisms for snoRNAs.International journal of molecular sciences · 2024Review
- The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.Human molecular genetics · 2024Article
- 2.7 Å cryo-EM structure of human telomerase H/ACA ribonucleoprotein.Nature communications · 2024Article
- Proteomic analyses reveal new features of the box H/ACA RNP biogenesis.Nucleic acids research · 2023Article
- SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.Human genome variation · 2023Article
- HumanFrontiers in genetics · 2023Article
- Maturation of small nucleolar RNAs: from production to function.RNA biology · 2023Review
- Dyskerin: an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance.RNA (New York, N.Y.) · 2021Review
- SUMOylation- and GAR1-Dependent Regulation of Dyskerin Nuclear and Subnuclear Localization.Molecular and cellular biology · 2021Article
- CircMEG3 inhibits telomerase activity by reducing Cbf5 in human liver cancer stem cells.Molecular therapy. Nucleic acids · 2021Article
- H/ACA Small Ribonucleoproteins: Structural and Functional Comparison Between Archaea and Eukaryotes.Frontiers in microbiology · 2021Review
- Structural Biology of Telomerase.Cold Spring Harbor perspectives in biology · 2019Review
- The cellular landscape of mid-size noncoding RNA.Wiley interdisciplinary reviews. RNA · 2019Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Shq1 is a conserved protein required for the biogenesis of eukaryotic H/ACA ribonucleoproteins (RNPs), including human telomerase. We report the structure of the Shq1-specific domain alone and in complex with H/ACA RNP proteins Cbf5, Nop10 and Gar1. The Shq1-specific domain adopts a novel helical fold and primarily contacts the PUA domain and the otherwise disordered C-terminal extension (CTE) of Cbf5. The structure shows that dyskeratosis congenita mutations found in the CTE of human Cbf5 likely interfere with Shq1 binding. However, most mutations in the PUA domain are not located at the Shq1-binding surface and also have little effect on the yeast Cbf5-Shq1 interaction. Shq1 binds Cbf5 independently of the H/ACA RNP proteins Nop10, Gar1 and Nhp2 and the assembly factor Naf1, but shares an overlapping binding surface with H/ACA RNA. Shq1 point mutations that disrupt Cbf5 interaction suppress yeast growth particularly at elevated temperatures. Our results suggest that Shq1 functions as an assembly chaperone that protects the Cbf5 protein complexes from non-specific RNA binding and aggregation before assembly of H/ACA RNA.
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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.