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Article

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.

Human molecular genetics - 15 Jan 2014

Rogler Leslie E, Kosmyna Brian, Moskowitz David, Bebawee Remon, Rahimzadeh Joseph, Kutchko Katrina, Laederach Alain, Notarangelo Luigi D, Giliani Silvia, Bouhassira Eric, Frenette Paul, Roy-Chowdhury Jayanta, Rogler Charles E

Abstract excerpt

Post-transcriptional processing of some long non-coding RNAs (lncRNAs) reveals that they are a source of miRNAs. We show that the 268-nt non-coding RNA component of mitochondrial RNA processing endoribonuclease, (RNase MRP), is the source of at least two short (∼20 nt) RNAs designated RMRP-S1 and RMRP-S2, which function as miRNAs. Point mutations in RNase MRP cause human cartilage-hair hypoplasia (CHH), and...

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Identifiers

PMID: 24009312
DOI: 10.1093/hmg/ddt427
PMCID: PMC3869355

Genes

PTCH2
SOX4

Provenance

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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Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.PMID 24009312Read ↗

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.Semantic proximity Read ↗

RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasiaSemantic proximity Read ↗

Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing.Semantic proximity Read ↗

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.Semantic proximity Read ↗

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.Semantic proximity Read ↗

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesisSemantic proximity Read ↗

RMRP mutations in Japanese patients with cartilage-hair hypoplasia.Semantic proximity Read ↗

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesisSemantic proximity Read ↗

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.Semantic proximity Read ↗

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.Semantic proximity Read ↗

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.Semantic proximity Read ↗

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