ArticleAmerican journal of human genetics2009
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.
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73 citing papers in PubMed, 128 citations in OpenAlex.
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- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- Ribosomal modifications are associated with mesenchymal fate selection in the neural crest lineage.Nature communications · 2026Article
- The zebrafish (NAR genomics and bioinformatics · 2025Article
- Essential role of Dhx16-mediated ribosome assembly in maintenance of hematopoietic stem cells.Leukemia · 2024Article
- RNA modification: mechanisms and therapeutic targets.Molecular biomedicine · 2023Review
- The Reaction Mechanism of Loganic Acid Methyltransferase: A Molecular Dynamics Simulation and Quantum Mechanics Study.Molecules (Basel, Switzerland) · 2023Article
- The role of post-transcriptional modifications during development.Biologia futura · 2023Review
- Nucleolar stress: Molecular mechanisms and related human diseases.Cancer science · 2023Review
- Quality control ensures fidelity in ribosome assembly and cellular health.The Journal of cell biology · 2023Review
- Kaposi's sarcoma-associated herpesvirus induces specialised ribosomes to efficiently translate viral lytic mRNAs.Nature communications · 2023Article
- Nucleolar Essential Protein 1 (Nep1): Elucidation of enzymatic catalysis mechanism by molecular dynamics simulation and quantum mechanics study.Computational and structural biotechnology journal · 2023Article
- Roles of ribosomal RNA in health and disease.Frontiers in RNA research · 2023Article
- The promises and pitfalls of specialized ribosomes.Molecular cell · 2022Article
- Specialised ribosomes as versatile regulators of gene expression.RNA biology · 2022Review
- Chemical Modifications of Ribosomal RNA.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Structure Characterization ofFrontiers in microbiology · 2022Article
- Dysregulation of ribosome-related genes in ankylosing spondylitis: a systems biology approach and experimental method.BMC musculoskeletal disorders · 2021Article
13 more citing papers are in PubMed but not listed here.
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16 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation, and death in early childhood. Nearly all reported BCS cases have been among Hutterites, with an estimated birth prevalence of 1/355. We previously localized the BCS gene to a 1.9 Mbp interval on human chromosome 12p13.3. The 59 genes in this interval were ranked as candidates for BCS, and 35 of these, including all of the best candidates, were sequenced. We identified variant NM_006331.6:c.400A-->G, p.D86G in the 18S ribosome assembly protein EMG1 as the probable cause of BCS. This mutation segregated with disease, was not found in 414 non-Hutterite alleles, and altered a highly conserved aspartic acid (D) residue. A structural model of human EMG1 suggested that the D86 residue formed a salt bridge with arginine 84 that would be disrupted by the glycine (G) substitution. EMG1 mRNA was detected in all human adult and fetal tissues tested. In BCS patient fibroblasts, EMG1 mRNA levels did not differ from those of normal cells, but EMG1 protein was dramatically reduced in comparison to that of normal controls. In mammalian cells, overexpression of EMG1 harboring the D86G mutation decreased the level of soluble EMG1 protein, and in yeast two-hybrid analysis, the D86G substitution increased interaction between EMG1 subunits. These findings suggested that the D-to-G mutation caused aggregation of EMG1, thereby reducing the level of the protein and causing BCS.
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