ArticleBMC medical genomics2016
Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia.
Article in BMC medical genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 35 citations in OpenAlex.
- Neighboring Gulf Killifish (Ecology and evolution · 2026Article
- EryDB: A Transcriptomic Profile Database for Erythropoiesis and Erythroid-related Diseases.Genomics, proteomics & bioinformatics · 2025Article
- An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.JCI insight · 2024Article
- Ribosome biogenesis in disease: new players and therapeutic targets.Signal transduction and targeted therapy · 2023Review
- Pan-cancer analysis reveals DDX21 as a potential biomarker for the prognosis of multiple tumor types.Frontiers in oncology · 2022Article
- Blood-Enriching Effects and Immune-Regulation Mechanism of Steam-ProcessedFrontiers in immunology · 2022Article
- A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia.Blood advances · 2021Article
- Advantages of omics technology for evaluating cadmium toxicity in zebrafish.Toxicological research · 2021Review
- Using the Zebrafish as a Genetic Model to Study Erythropoiesis.International journal of molecular sciences · 2021Review
- Transcriptomic analysis of the black tiger shrimp (Penaeus monodon) reveals insights into immune development in their early life stages.Scientific reports · 2021Article
- Rcl1 depletion impairs 18S pre-rRNA processing at the A1-site and up-regulates a cohort of ribosome biogenesis genes in zebrafish.Nucleic acids research · 2021Article
- Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Exploiting codon usage identifies intensity-specific modifiers of Ras/MAPK signaling in vivo.PLoS genetics · 2020Article
- Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.Scientific reports · 2020Article
- MicroRNAs and long non-coding RNAs as novel regulators of ribosome biogenesis.Biochemical Society transactions · 2020Review
- Transcriptome profiling analysis of sex-based differentially expressed mRNAs and lncRNAs in the brains of mature zebrafish (Danio rerio).BMC genomics · 2019Article
- Dynamic transcriptome sequencing and analysis during early development in the bighead carp (Hypophthalmichthys nobilis).BMC genomics · 2019Article
- Ribosomopathies: Old Concepts, New Controversies.Trends in genetics : TIG · 2019Review
- Modeling hematopoietic disorders in zebrafish.Disease models & mechanisms · 2019Review
- Article
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDiamond-Blackfan anemia (DBA) was the first ribosomopathy associated with mutations in ribosome protein (RP) genes. The clinical phenotypes of DBA include failure of erythropoiesis, congenital anomalies and cancer predisposition. Mutations in RPL5 are reported in approximately 9 ~ 21 % of DBA patients, which represents the most common pathological condition related to a large-subunit ribosomal protein. However, it remains unclear how RPL5 downregulation results in severe phenotypes of this disease.
resultsIn this study, we generated a zebrafish model of DBA with RPL5 morphants and implemented high-throughput RNA-seq and ncRNA-seq to identify key genes, lncRNAs, and miRNAs during zebrafish development and hematopoiesis. We demonstrated that RPL5 is required for both primitive and definitive hematopoiesis processes. By comparing with other DBA zebrafish models and processing functional coupling network, we identified some common regulated genes, lncRNAs and miRNAs, that might play important roles in development and hematopoiesis.
conclusionsRibosome biogenesis and translation process were affected more in RPL5 MO than in other RP MOs. Both P53 dependent (for example, cell cycle pathway) and independent pathways (such as Aminoacyl-tRNA biosynthesis pathway) play important roles in DBA pathology. Our results therefore provide a comprehensive basis for the study of molecular pathogenesis of RPL5-mediated DBA and other ribosomopathies.
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