ArticleAmerican journal of human genetics2005
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 135 citations in OpenAlex.
- The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia.Frontiers in immunology · 2020Trial
- Trial
- Cumulative microscopy reveals cellular states in fibroblasts from patients with genetic disorders.EMBO reports · 2026Article
- Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia.JCEM case reports · 2026Article
- Cartilage-hair hypoplasia: A comprehensive review.Journal of human immunity · 2025Review
- The role of MKI67 in the regulation of 60S pre-ribosome nucleolar export, transcripts, energy supply, and apoptosis.bioRxiv : the preprint server for biology · 2025Article
- Analyzing the role of ferroptosis in ribosome-related bone marrow failure disorders: From pathophysiology to potential pharmacological exploitation.IUBMB life · 2024Review
- Article
- LncRNA RMRP promotes chondrocyte injury by regulating the FOXC1/RBP4 axis.Central-European journal of immunology · 2024Article
- Prenatal Cases Reflect the Complexity of theGenes · 2022Article
- A cancer-associated RNA polymerase III identity drives robust transcription and expression of snaR-A noncoding RNA.Nature communications · 2022Article
- Widespread association of ERα with RMRP and tRNA genes in MCF-7 cells and breast cancers.Gene · 2022Article
- A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.Nature communications · 2022Article
- A novel experimental approach for the selective isolation and characterization of human RNase MRP.RNA biology · 2022Article
- Inactivation of the tumor suppressor p53 by long noncoding RNA RMRP.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer.Orphanet journal of rare diseases · 2021Article
- LncRNA RNA Component of Mitochondrial RNA-Processing Endoribonuclease Promotes AKT-Dependent Breast Cancer Growth and Migration by Trapping MicroRNA-206.Frontiers in cell and developmental biology · 2021Article
- How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.Cells · 2020Review
- RNA polymerase III transcription as a disease factor.Genes & development · 2020Review
- Hallmarks of ribosomopathies.Nucleic acids research · 2020Review
1 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 8 institutions in 3 countries.
Funding
Abstract
The growth of an individual is deeply influenced by the regulation of cell growth and division, both of which also contribute to a wide variety of pathological conditions, including cancer, diabetes, and inflammation. To identify a major regulator of human growth, we performed positional cloning in an autosomal recessive type of profound short stature, anauxetic dysplasia. Homozygosity mapping led to the identification of novel mutations in the RMRP gene, which was previously known to cause two milder types of short stature with susceptibility to cancer, cartilage hair hypoplasia, and metaphyseal dysplasia without hypotrichosis. We show that different RMRP gene mutations lead to decreased cell growth by impairing ribosomal assembly and by altering cyclin-dependent cell cycle regulation. Clinical heterogeneity is explained by a correlation between the level and type of functional impairment in vitro and the severity of short stature or predisposition to cancer. Whereas the cartilage hair hypoplasia founder mutation affects both pathways intermediately, anauxetic dysplasia mutations do not affect B-cyclin messenger RNA (mRNA) levels but do severely incapacitate ribosomal assembly via defective endonucleolytic cleavage. Anauxetic dysplasia mutations thus lead to poor processing of ribosomal RNA while allowing normal mRNA processing and, therefore, genetically separate the different functions of RNase MRP.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.