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Article

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.

Nature communications - 3 Feb 2022

Robertson Nic, Shchepachev Vadim, Wright David, Turowski Tomasz W, Spanos Christos, Helwak Aleksandra, Zamoyska Rose, Tollervey David

Abstract excerpt

RMRP encodes a non-coding RNA forming the core of the RNase MRP ribonucleoprotein complex. Mutations cause Cartilage Hair Hypoplasia (CHH), characterized by skeletal abnormalities and impaired T cell activation. Yeast RNase MRP cleaves a specific site in the pre-ribosomal RNA (pre-rRNA) during ribosome synthesis. CRISPR-mediated disruption of RMRP in human cells lines caused growth arrest, with pre-rRNA...

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Identifiers

PMID: 35115551
DOI: 10.1038/s41467-022-28295-8
PMCID: PMC8814244

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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