A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis
Mutations in the non-coding RNA RMRP cause primary immunodeficiency. Robertson et al show that a disease-associated mutation in RMRP impairs pre-ribosomal RNA processing and reduces ribosome abundance, establishing this disorder as a ribosomopathy.
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-02-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-022-28295-8 |
| _version_ | 1818486350814380032 |
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| author | Nic Robertson Vadim Shchepachev David Wright Tomasz W. Turowski Christos Spanos Aleksandra Helwak Rose Zamoyska David Tollervey |
| author_facet | Nic Robertson Vadim Shchepachev David Wright Tomasz W. Turowski Christos Spanos Aleksandra Helwak Rose Zamoyska David Tollervey |
| author_sort | Nic Robertson |
| collection | DOAJ |
| description | Mutations in the non-coding RNA RMRP cause primary immunodeficiency. Robertson et al show that a disease-associated mutation in RMRP impairs pre-ribosomal RNA processing and reduces ribosome abundance, establishing this disorder as a ribosomopathy. |
| first_indexed | 2024-12-10T16:21:46Z |
| format | Article |
| id | doaj.art-6d72bec339554c86a887521d12ef03cb |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-10T16:21:46Z |
| publishDate | 2022-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-6d72bec339554c86a887521d12ef03cb2022-12-22T01:41:47ZengNature PortfolioNature Communications2041-17232022-02-0113111410.1038/s41467-022-28295-8A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesisNic Robertson0Vadim Shchepachev1David Wright2Tomasz W. Turowski3Christos Spanos4Aleksandra Helwak5Rose Zamoyska6David Tollervey7Wellcome Centre for Cell Biology, University of EdinburghThe Gurdon Institute and Department of Pathology, University of CambridgeAshworth Laboratories, Institute of Immunology and Infection Research, University of EdinburghWellcome Centre for Cell Biology, University of EdinburghWellcome Centre for Cell Biology, University of EdinburghWellcome Centre for Cell Biology, University of EdinburghAshworth Laboratories, Institute of Immunology and Infection Research, University of EdinburghWellcome Centre for Cell Biology, University of EdinburghMutations in the non-coding RNA RMRP cause primary immunodeficiency. Robertson et al show that a disease-associated mutation in RMRP impairs pre-ribosomal RNA processing and reduces ribosome abundance, establishing this disorder as a ribosomopathy.https://doi.org/10.1038/s41467-022-28295-8 |
| spellingShingle | Nic Robertson Vadim Shchepachev David Wright Tomasz W. Turowski Christos Spanos Aleksandra Helwak Rose Zamoyska David Tollervey A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis Nature Communications |
| title | A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis |
| title_full | A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis |
| title_fullStr | A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis |
| title_full_unstemmed | A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis |
| title_short | A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis |
| title_sort | disease linked lncrna mutation in rnase mrp inhibits ribosome synthesis |
| url | https://doi.org/10.1038/s41467-022-28295-8 |
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