ArticlePLoS genetics2013
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 33 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 61 citations in OpenAlex.
- rRNA intermediates associate with nucleolar reshaping in C. elegans.Nucleic acids research · 2026Article
- Single cell dual-omic atlas of the human developing retina.Nature communications · 2024Article
- RNA-binding protein RPS7 promotes hepatocellular carcinoma progression via LOXL2-dependent activation of ITGB1/FAK/SRC signaling.Journal of experimental & clinical cancer research : CR · 2024Article
- Haploinsufficiency of the essential geneeLife · 2023Article
- Animal models of Diamond-Blackfan anemia: updates and challenges.Haematologica · 2023Review
- Eukaryotic Elongation Factor 2 Kinase Activity Is Required for the Phenotypes of the Rpl24The Journal of investigative dermatology · 2022Article
- Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.Nature communications · 2022Article
- The Ribosomal Protein L5 Functions DuringFrontiers in cell and developmental biology · 2022Article
- A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia.Blood advances · 2021Article
- Genetic Variants of RPL5 and RPL9 Genes among Saudi Patients Diagnosed with Thrombosis.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2021Article
- Transcriptomic Profiling of Human Pluripotent Stem Cell-derived Retinal Pigment Epithelium over Time.Genomics, proteomics & bioinformatics · 2021Article
- Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.International journal of hematology · 2020Article
- Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia.Science translational medicine · 2020Article
- Cataloguing and Selection of mRNAs Localized to Dendrites in Neurons and Regulated by RNA-Binding Proteins in RNA Granules.Biomolecules · 2020Review
- The role of p53 in developmental syndromes.Journal of molecular cell biology · 2019Review
- How I manage children with Diamond-Blackfan anaemia.British journal of haematology · 2019Review
- Peering through zebrafish to understand inherited bone marrow failure syndromes.Haematologica · 2019Review
- Heterogeneity and specialized functions of translation machinery: from genes to organisms.Nature reviews. Genetics · 2018Review
- The vacuolar HBone reports · 2017Article
- GRWD1, a new player among oncogenesis-related ribosomal/nucleolar proteins.Cell cycle (Georgetown, Tex.) · 2017Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
22 authors at 11 institutions in 6 countries.
Funding
Abstract
The ribosome is an evolutionarily conserved organelle essential for cellular function. Ribosome construction requires assembly of approximately 80 different ribosomal proteins (RPs) and four different species of rRNA. As RPs co-assemble into one multi-subunit complex, mutation of the genes that encode RPs might be expected to give rise to phenocopies, in which the same phenotype is associated with loss-of-function of each individual gene. However, a more complex picture is emerging in which, in addition to a group of shared phenotypes, diverse RP gene-specific phenotypes are observed. Here we report the first two mouse mutations (Rps7(Mtu) and Rps7(Zma)) of ribosomal protein S7 (Rps7), a gene that has been implicated in Diamond-Blackfan anemia. Rps7 disruption results in decreased body size, abnormal skeletal morphology, mid-ventral white spotting, and eye malformations. These phenotypes are reported in other murine RP mutants and, as demonstrated for some other RP mutations, are ameliorated by Trp53 deficiency. Interestingly, Rps7 mutants have additional overt malformations of the developing central nervous system and deficits in working memory, phenotypes that are not reported in murine or human RP gene mutants. Conversely, Rps7 mouse mutants show no anemia or hyperpigmentation, phenotypes associated with mutation of human RPS7 and other murine RPs, respectively. We provide two novel RP mouse models and expand the repertoire of potential phenotypes that should be examined in RP mutants to further explore the concept of RP gene-specific phenotypes.
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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.