ArticleNucleic acids research2020
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Article in Nucleic acids research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 54 citations in OpenAlex.
- Proteogenomic Analysis of Coronary Artery Calcification in Human Populations.Arteriosclerosis, thrombosis, and vascular biology · 2026Article
- Lipid metabolism transcriptomic signature of defective erythropoiesis in Diamond Blackfan anemia syndrome.Blood advances · 2026Article
- General transcription factor IIIAa regulates the transcription of somatic 5S rRNA and influences embryonic organ development in zebrafish.Marine life science & technology · 2026Article
- Ribosomal protein mutation suppresses gonadal leader cell migration defects in mig-17/ADAMTS mutants in Caenorhabditis elegans.Scientific reports · 2025Article
- Identification of cell specific biomarkers for intellectual disability via single cell RNA sequencing and transcriptomic bioinformatics approaches.Scientific reports · 2025Article
- Proteomics-based characterization of ribosome heterogeneity in adult mouse organs.Cellular and molecular life sciences : CMLS · 2025Article
- Integration of single-cell and bulk RNA sequencing to identify unique tumor stem cells and construct novel prognostic markers for assessing ESCA prognosis and drug sensitivity.Frontiers in oncology · 2025Article
- Ribosomal protein L9 is a potential therapeutic target for B-ALL through the activation of the p53 signaling pathway.Frontiers in immunology · 2025Article
- RPL9 acts as an oncogene by shuttling miRNAs through exosomes in human hepatocellular carcinoma cells.International journal of oncology · 2024Article
- Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.The Lancet. Haematology · 2024Article
- The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.Children (Basel, Switzerland) · 2023Review
- Review
- TFIIH mutations can impact on translational fidelity of the ribosome.Human molecular genetics · 2023Article
- Article
- Increasing Complexity of Ribosomes and Their Biogenesis.International journal of molecular sciences · 2022Article
- Article
- Decoding the pathogenesis of Diamond-Blackfan anemia using single-cell RNA-seq.Cell discovery · 2022Article
- Article
- The Identification and Validation of Hub Genes Associated with Acute Myocardial Infarction Using Weighted Gene Co-Expression Network Analysis.Journal of cardiovascular development and disease · 2022Article
- Epigenetic evidence for distinct contributions of resident and acquired myonuclei during long-term exercise adaptation using timed in vivo myonuclear labeling.American journal of physiology. Cell physiology · 2022Article
Corrections and comments
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Authors and funding
28 authors at 13 institutions in 6 countries.
Funding
Abstract
Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer. Inherited and sporadic RP gene variants are also linked to a variety of phenotypes, including malignancy, in individuals with no anemia. Here we report an individual diagnosed with DBA carrying a variant in the 5'UTR of RPL9 (uL6). Additionally, we report two individuals from a family with multiple cancer incidences carrying a RPL9 missense variant. Analysis of cells from these individuals reveals that despite the variants both driving pre-rRNA processing defects and 80S monosome reduction, the downstream effects are remarkably different. Cells carrying the 5'UTR variant stabilize TP53 and impair the growth and differentiation of erythroid cells. In contrast, ribosomes incorporating the missense variant erroneously read through UAG and UGA stop codons of mRNAs. Metabolic profiles of cells carrying the 5'UTR variant reveal an increased metabolism of amino acids and a switch from glycolysis to gluconeogenesis while those of cells carrying the missense variant reveal a depletion of nucleotide pools. These findings indicate that variants in the same RP gene can drive similar ribosome biogenesis defects yet still have markedly different downstream consequences and clinical impacts.
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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.