ArticleNucleic acids research2015
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.
Article in Nucleic acids research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Iron-sulfur cofactors in nucleic acid metabolism and protein synthesis: Assembly, delivery, and putative roles in cellular and viral systems.The Journal of biological chemistry · 2026Review
- Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.Nucleic acids research · 2025Article
- Article
- Telomouse-a mouse model with human-length telomeres generated by a single amino acid change in RTEL1.Nature communications · 2023Article
- Regulator of telomere elongation helicase 1 gene and its association with malignancy.Cancer reports (Hoboken, N.J.) · 2023Review
- Role of RNA Biogenesis Factors in the Processing and Transport of Human Telomerase RNA.Biomedicines · 2022Article
- RTEL1 influences the abundance and localization of TERRA RNA.Nature communications · 2021Article
- Visualising G-quadruplex DNA dynamics in live cells by fluorescence lifetime imaging microscopy.Nature communications · 2021Article
- Human RTEL1 associates with Poldip3 to facilitate responses to replication stress and R-loop resolution.Genes & development · 2020Article
- Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.Nucleic acids research · 2020Article
- SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations.Nature structural & molecular biology · 2020Article
- The origin of exosomal miR-1246 in human cancer cells.RNA biology · 2019Article
- Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension.Nucleic acids research · 2018Article
- Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.British journal of haematology · 2015Review
- SLX4 contributes to telomere preservation and regulated processing of telomeric joint molecule intermediates.Nucleic acids research · 2015Article
- Molecular mechanisms of telomere biology disorders.The Journal of biological chemistryReview
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Authors and funding
10 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, bone marrow failure and immunodeficiency and has been associated with telomere dysfunction. Recently, mutations in Regulator of Telomere ELongation helicase 1 (RTEL1), a helicase first identified in Mus musculus as being responsible for the maintenance of long telomeres, have been identified in several HHS patients. Here we show that RTEL1 is required for the export and the correct cytoplasmic trafficking of the small nuclear (sn) RNA pre-U2, a component of the major spliceosome complex. RTEL1-HHS cells show abnormal subcellular partitioning of pre-U2, defects in the recycling of ribonucleotide proteins (RNP) in the cytoplasm and splicing defects. While most of these phenotypes can be suppressed by re-expressing the wild-type protein in RTEL1-HHS cells, expression of RTEL1 mutated variants in immortalized cells provokes cytoplasmic mislocalizations of pre-U2 and other RNP components, as well as splicing defects, thus phenocopying RTEL1-HHS cellular defects. Strikingly, expression of a cytoplasmic form of RTEL1 is sufficient to correct RNP mislocalizations both in RTEL1-HHS cells and in cells expressing nuclear mutated forms of RTEL1. This work unravels completely unanticipated roles for RTEL1 in RNP trafficking and strongly suggests that defects in RNP biogenesis pathways contribute to the pathology of HHS.
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