Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia |
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| Authors: | Anna Aspesi,Elisa Pavesi,Elisa Robotti,Rossella Crescitelli,Ilenia Boria,Federica Avondo,Hé lè ne Moniz,Lydie Da Costa,Narla Mohandas,Paola Roncaglia,Ugo Ramenghi,Antonella Ronchi,Stefano Gustincich,Simone Merlin,Emilio Marengo,Steven R. Ellis,Antonia Follenzi,Claudio Santoro,Irma Dianzani |
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| Affiliation: | 1. Department of Health Sciences, University of Eastern Piedmont, Novara, Italy;2. Department of Sciences and Technological Innovation, University of Eastern Piedmont, Alessandria, Italy;3. Department of Chemistry, University of Milan, Italy;4. U1009, AP-HP, Service d''Hématologie Biologique, Hôpital Robert Debré, Université Paris VII-Denis Diderot, Sorbonne Paris Cité, F-75475 Paris, France;5. New York Blood Center, NY, USA;6. International School for Advanced Studies (SISSA/ISAS), Trieste, Italy;g Department of Pediatric Sciences, University of Torino, Torino, Italy;h Department of Biotechnologies and Biosciences, Milano-Bicocca University, Italy;i University of Louisville, KY, USA |
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| Abstract: | Defects in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often associated with physical abnormalities. Other bone marrow failure syndromes have been attributed to defects in ribosomal components but the link between erythropoiesis and the ribosome remains to be fully defined. Several lines of evidence suggest that defects in ribosome synthesis lead to “ribosomal stress” with p53 activation and either cell cycle arrest or induction of apoptosis. Pathways independent of p53 have also been proposed to play a role in DBA pathogenesis. |
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| Keywords: | DBA, Diamond Blackfan anemia RP, ribosomal protein RS, ribosomal stress PCA, principal component analysis PC, principal component GO, gene ontology |
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