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A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis [human]

ABSTRACT: A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis [human]

PROVIDER: PRJNA718111 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR14089842.fastq.gz	Fastqsanger.gz
	SRR14089843.fastq.gz	Fastqsanger.gz
	SRR14089844.fastq.gz	Fastqsanger.gz
	SRR14089845.fastq.gz	Fastqsanger.gz
	SRR14089846.fastq.gz	Fastqsanger.gz

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A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis [RMRP_SHAPE]

Project description:Mutations in the human RMRP gene cause Cartilage Hair Hypoplasia (CHH), an autosomal recessive disorder characterized by skeletal abnormalities and impaired T-cell activation. RMRP encodes a non-coding RNA, which forms the core of the RNase MRP ribonucleoprotein complex. In budding yeast, RMRP 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 accumulation. Here, we analyzed disease-relevant primary cells, showing that mutations in RMRP impair mouse T cell activation and delay pre-rRNA processing. Analysis of pre-rRNA processing in patient-derived human fibroblasts with CHH-linked mutations showed a similar pattern of processing delay. Human cells engineered with the most common CHH mutation (70AG in RMRP) show specifically impaired pre-rRNA processing, resulting in reduced mature rRNA and a reduced ratio of cytosolic to mitochondrial ribosomes. Moreover, the 70AG mutation caused a reduction in intact RNase MRP complexes. Together, these results indicate that CHH is a ribosomopathy, and the first human disorder of rRNA processing to be described.

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A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis [human]

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A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis [yeast]

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

Project description:A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis

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

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A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis [RMRP_SHAPE]

Project description:A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis [RMRP_SHAPE]

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A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis [yeast]

Project description:A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis [yeast]

| PRJNA718112 | ENA

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

Project description: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 accumulation. Here, we analyzed disease-relevant primary cells, showing that mutations in RMRP impair mouse T cell activation and delay pre-rRNA processing. Patient-derived human fibroblasts with CHH-linked mutations showed similar pre-rRNA processing delay. Human cells engineered with the most common CHH mutation (70AG in RMRP) show specifically impaired pre-rRNA processing, resulting in reduced mature rRNA and a reduced ratio of cytosolic to mitochondrial ribosomes. Moreover, the 70AG mutation caused a reduction in intact RNase MRP complexes. Together, these results indicate that CHH is a ribosomopathy.

| S-EPMC8814244 | biostudies-literature

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

Project description:This SuperSeries is composed of the SubSeries listed below.

2021-03-29 | GSE171021 | GEO

RNAi profiling by array of human HEp-2 cells with siRNA-mediated depletion of RNase MRP protein components

Project description:To identify mRNA substrates for the human RNase MRP complex, we examined the effects of siRNA-mediated depletion of RNase MRP (and RNase P) on the transcriptome of HEp-2 cells. The expression of two RNase MRP protein components, hPop1 and Rpp40, was knocked-down and after 48 hours mRNA was isolated from these cells as well as from cells transfected with an siRNA targeting the GFP mRNA (siEGFP), which was used as a control. The expression levels of mRNAs were analyzed on a genome-wide scale using 21K microarrays.

2011-04-01 | E-TABM-981 | biostudies-arrayexpress

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