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Blood, 1 February 2007, Vol. 109, No. 3, pp. 980-986. Prepublished online as a Blood First Edition Paper on September 21, 2006; DOI 10.1182/blood-2006-07-038232. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2006-07-038232v1 109/3/980    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Flygare, J. Articles by Ellis, S. R. Search for Related Content PubMed PubMed Citation Articles by Flygare, J. Articles by Ellis, S. R. Related Collections Hematopoiesis and Stem Cells Red Cells Gene Expression Free Research Articles Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMATOPOIESIS Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits Johan Flygare1, Anna Aspesi2,3, Joshua C. Bailey3, Koichi Miyake1,4, Jacqueline M. Caffrey3, Stefan Karlsson1, and Steven R. Ellis3 1 Department of Molecular Medicine and Gene Therapy, Lund Stem Cell Center, Lund University Hospital, Lund, Sweden; 2 Dipartimento di Scienze Mediche, Università del Piemonte Orientale, Novara, Italy; 3 Department of Biochemistry and Molecular Biology, University of Louisville, KY; 4 Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually manifests in the first year of life. The only gene currently known to be mutated in DBA encodes ribosomal protein S19 (RPS19). Previous studies have shown that the yeast RPS19 protein is required for a specific step in the maturation of 40S ribosomal subunits. Our objective here was to determine whether the human RPS19 protein functions at a similar step in 40S subunit maturation. Studies where RPS19 expression is reduced by siRNA in the hematopoietic cell line, TF-1, show that human RPS19 is also required for a specific step in the maturation of 40S ribosomal subunits. This maturation defect can be monitored by studying rRNA-processing intermediates along the ribosome synthesis pathway. Analysis of these intermediates in CD34– cells from the bone marrow of patients with DBA harboring mutations in RPS19 revealed a pre-rRNA–processing defect similar to that observed in TF-1 cells where RPS19 expression was reduced. This defect was observed to a lesser extent in CD34+ cells from patients with DBA who have mutations in RPS19. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Diamond-Blackfan anemia: "novel" mechanisms—ribosomes and the erythron Jeffrey M. Lipton Blood 2007 109: 850-851. [Full Text] [PDF] This article has been cited by other articles: S. Robledo, R. A. Idol, D. L. Crimmins, J. H. Ladenson, P. J. Mason, and M. Bessler The role of human ribosomal proteins in the maturation of rRNA and ribosome production RNA, September 1, 2008; 14(9): 1918 - 1929. [Abstract] [Full Text] [PDF] V. Choesmel, S. Fribourg, A.-H. Aguissa-Toure, N. Pinaud, P. Legrand, H. T. Gazda, and P.-E. Gleizes Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder Hum. Mol. Genet., May 1, 2008; 17(9): 1253 - 1263. [Abstract] [Full Text] [PDF] K. Miyake, T. Utsugisawa, J. Flygare, T. Kiefer, I. Hamaguchi, J. Richter, and S. Karlsson Ribosomal Protein S19 Deficiency Leads to Reduced Proliferation and Increased Apoptosis but Does Not Affect Terminal Erythroid Differentiation in a Cell Line Model of Diamond-Blackfan Anemia Stem Cells, February 1, 2008; 26(2): 323 - 329. [Abstract] [Full Text] [PDF] L. A. Gregory, A.-H. Aguissa-Toure, N. Pinaud, P. Legrand, P.-E. Gleizes, and S. Fribourg Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19 Nucleic Acids Res., September 27, 2007; 35(17): 5913 - 5921. [Abstract] [Full Text] [PDF] S. Karlsson Connecting ribosomes with bone marrow failure Blood, September 1, 2007; 110(5): 1402 - 1402. [Full Text] [PDF] K. A. Ganapathi, K. M. Austin, C.-S. Lee, A. Dias, M. M. Malsch, R. Reed, and A. Shimamura The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA Blood, September 1, 2007; 110(5): 1458 - 1465. [Abstract] [Full Text] [PDF] M. Angelini, S. Cannata, V. Mercaldo, L. Gibello, C. Santoro, I. Dianzani, and F. Loreni Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome Hum. Mol. Genet., July 15, 2007; 16(14): 1720 - 1727. [Abstract] [Full Text] [PDF] J. Flygare and S. Karlsson Diamond-Blackfan anemia: erythropoiesis lost in translation Blood, April 15, 2007; 109(8): 3152 - 3154. [Abstract] [Full Text] [PDF] B. P. Alter Diagnosis, Genetics, and Management of Inherited Bone Marrow Failure Syndromes Hematology, January 1, 2007; 2007(1): 29 - 39. [Abstract] [Full Text] [PDF]

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