ArticleNucleic acids research2019
N-terminal residues of human dyskerin are required for interactions with telomerase RNA that prevent RNA degradation.
Article in Nucleic acids research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 30 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
- Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation.NPJ genomic medicine · 2026Article
- Interprotomer communication and functional asymmetry in H/ACA snoRNPs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A working model for cytoplasmic assembly of H/ACA snoRNPs.FEBS letters · 2025Review
- Article
- Targeting DKC1/NF-κB axis suppresses tumorigenesis and enhances 5-FU sensitivity in gastric cancer.Cancer cell international · 2025Article
- Telomeres, telomerase, and cancer: mechanisms, biomarkers, and therapeutics.Experimental hematology & oncology · 2025Review
- Recent progress in human telomerase structure and its therapeutic targeting.Frontiers in molecular biosciences · 2025Review
- RIOK2 transcriptionally regulates TRiC and dyskerin complexes to prevent telomere shortening.Nature communications · 2024Article
- 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
- Control of protein synthesis through mRNA pseudouridylation by dyskerin.Science advances · 2023Article
- Telomere biology disorders: time for moving towards the clinic?Trends in molecular medicine · 2022Review
- Dyskerin Downregulation Can Induce ER Stress and Promote Autophagy via AKT-mTOR Signaling Deregulation.Biomedicines · 2022Article
- Telomere Shortening and Its Association with Cell Dysfunction in Lung Diseases.International journal of molecular sciences · 2021Review
- Dyskerin: an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance.RNA (New York, N.Y.) · 2021Review
- Dual Inhibition of DKC1 and MEK1/2 Synergistically Restrains the Growth of Colorectal Cancer Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2021Article
- SUMOylation- and GAR1-Dependent Regulation of Dyskerin Nuclear and Subnuclear Localization.Molecular and cellular biology · 2021Article
- Regulation of human telomerase RNA biogenesis and localization.RNA biology · 2021Review
- Functional diversity of small nucleolar RNAs.Nucleic acids research · 2020Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
The telomerase holoenzyme responsible for maintaining telomeres in vertebrates requires many components in vivo, including dyskerin. Dyskerin binds and regulates the accumulation of the human telomerase RNA, hTR, as well as other non-coding RNAs that share the conserved H/ACA box motif. The precise mechanism by which dyskerin controls hTR levels is unknown, but is evidenced by defective hTR accumulation caused by substitutions in dyskerin, that are observed in the X-linked telomere biology disorder dyskeratosis congenita (X-DC). To understand the role of dyskerin in hTR accumulation, we analyzed X-DC substitutions K39E and K43E in the poorly characterized dyskerin N-terminus, and A353V within the canonical RNA binding domain (the PUA). These variants exhibited impaired binding to hTR and polyadenylated hTR species, while interactions with other H/ACA RNAs appear largely unperturbed by the N-terminal substitutions. hTR accumulation and telomerase activity defects of dyskerin-deficient cells were rescued by wildtype dyskerin but not the variants. hTR 3' extended or polyadenylated species did not accumulate, suggesting hTR precursor degradation occurs upstream of mature complex assembly in the absence of dyskerin binding. Our findings demonstrate that the dyskerin-hTR interaction mediated by PUA and N-terminal residues of dyskerin is crucial to prevent unchecked hTR degradation.
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