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Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes

Watkins-Chow, Dawn E ; Cooke, Joanna ; Pidsley, Ruth ; Edwards, Andrew ; Slotkin, Rebecca ; Leeds, Karen E ; Mullen, Raymond ; Baxter, Laura L ; Campbell, Thomas G ; Salzer, Marion C ; Biondini, Laura ; Gibney, Gretchen ; Phan Dinh Tuy, Françoise ; Chelly, Jamel ; Morris, H Douglas ; Riegler, Johannes ; Lythgoe, Mark F ; Arkell, Ruth M ; Loreni, Fabrizio ; Flint, Jonathan ; Pavan, William J ; Keays, David A Barsh, Gregory S.

PLoS genetics, 2013-01, Vol.9 (1), p.e1003094-e1003094 [Periódico revisado por pares]

United States: Public Library of Science

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Título:
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes
Autor: Watkins-Chow, Dawn E ; Cooke, Joanna ; Pidsley, Ruth ; Edwards, Andrew ; Slotkin, Rebecca ; Leeds, Karen E ; Mullen, Raymond ; Baxter, Laura L ; Campbell, Thomas G ; Salzer, Marion C ; Biondini, Laura ; Gibney, Gretchen ; Phan Dinh Tuy, Françoise ; Chelly, Jamel ; Morris, H Douglas ; Riegler, Johannes ; Lythgoe, Mark F ; Arkell, Ruth M ; Loreni, Fabrizio ; Flint, Jonathan ; Pavan, William J ; Keays, David A
Barsh, Gregory S.
Assuntos: Anemia ; Anemia, Diamond-Blackfan - genetics ; Anemia, Diamond-Blackfan - pathology ; Animals ; Biology ; Body Size - genetics ; Central Nervous System - growth & development ; Central Nervous System - pathology ; Disease Models, Animal ; Gene mutations ; Genes ; Genetic aspects ; Humans ; Memory, Short-Term - physiology ; Mice ; Morphogenesis - genetics ; Morphology ; Mutation ; Neurogenetics ; Phenotype ; Physiological aspects ; Proteins ; Ribosomal Proteins - genetics ; Ribosomal Proteins - physiology ; Ribosomes - genetics ; Zebrafish
É parte de: PLoS genetics, 2013-01, Vol.9 (1), p.e1003094-e1003094
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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content type line 23
Conceived and designed the experiments: DE Watkins-Chow, RM Arkell, F Loreni, J Flint, WJ Pavan, DA Keays. Performed the experiments: DE Watkins-Chow, J Cooke, R Pidsley, A Edwards, R Slotkin, KE Leeds, R Mullen, TG Campbell, MC Salzer, L Biondini, G Gibney, F Phan Dinh Tuy, HD Morris, RM Arkell, DA Keays. Analyzed the data: DE Watkins-Chow, J Cooke, LL Baxter, G Gibney, J Riegler, MF Lythgoe, RM Arkell, F Loreni, DA Keays. Contributed reagents/materials/analysis tools: J Chelly. Wrote the paper: DE Watkins-Chow, LL Baxter, RM Arkell, F Loreni, WJ Pavan, DA Keays.
The authors have declared that no competing interests exist.
Descrição: 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.
Editor: United States: Public Library of Science
Idioma: Inglês

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Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes

United States: Public Library of Science

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