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Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology. Rudbeck Laboratory. (Research Group of Clinical Molecular Genetics)
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology. Rudbeck Laboratory. (Research Group of Clinical Molecular Genetics)
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology. Rudbeck Laboratory. (Research Group of Clinical Molecular Genetics)
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2004 (English)In: Mol Cell Biol, ISSN 0270-7306, Vol. 24, no 9, 4032-7 p.Article in journal (Refereed) Published
Abstract [en]

The ribosomal protein S19 (RPS19) is located in the small (40S) subunit and is one of 79 ribosomal proteins. The gene encoding RPS19 is mutated in approximately 25% of patients with Diamond-Blackfan anemia, which is a rare congenital erythroblastopenia. Affected individuals present with decreased numbers or the absence of erythroid precursors in the bone marrow, and associated malformations of various organs are common. We produced C57BL/6J mice with a targeted disruption of murine Rps19 to study its role in erythropoiesis and development. Mice homozygous for the disrupted Rps19 were not identified as early as the blastocyst stage, indicating a lethal effect. In contrast, mice heterozygous for the disrupted Rps19 allele have normal growth and organ development, including that of the hematopoietic system. Our findings indicate that zygotes which are Rps19(-/-) do not form blastocysts, whereas one normal Rps19 allele in C57BL/6J mice is sufficient to maintain normal ribosomal and possibly extraribosomal functions.

Place, publisher, year, edition, pages
2004. Vol. 24, no 9, 4032-7 p.
Keyword [en]
Anemia; Diamond-Blackfan/genetics, Animals, Bone Marrow Cells/cytology/metabolism, Cells; Cultured, Embryo Implantation/*physiology, Female, Gene Targeting, Humans, Mice, Mice; Inbred C57BL, Mice; Knockout, Phenotype, Pregnancy, Research Support; Non-U.S. Gov't, Ribosomal Proteins/*genetics/*metabolism, Stem Cells/physiology
Identifiers
URN: urn:nbn:se:uu:diva-73204PubMedID: 15082795OAI: oai:DiVA.org:uu-73204DiVA: diva2:101115
Available from: 2005-06-01 Created: 2005-06-01 Last updated: 2011-01-12

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Matsson, HansDahl, Niklas

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