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Molecular and Cellular Biology, May 2004, p. 4032-4037, Vol. 24, No. 9
0270-7306/04/$08.00+0     DOI: 10.1128/MCB.24.9.4032-4037.2004
Copyright © 2004, American Society for Microbiology. All Rights Reserved.

Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation

Hans Matsson,1 Edward J. Davey,1 Natalia Draptchinskaia,1 Isao Hamaguchi,2 Andreas Ooka,2 Per Levéen,2 Erik Forsberg,3 Stefan Karlsson,2 and Niklas Dahl1*

Department of Genetics and Pathology, The Rudbeck Laboratory,1 Department of Medical Biochemistry and Microbiology, Uppsala Biomedical Centre, Uppsala University, 751 85 Uppsala,3 Department of Molecular Medicine and Gene Therapy, Lund University, 221 84 Lund, Sweden2

Received 17 November 2003/ Accepted 31 January 2004

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.

* Corresponding author. Mailing address: Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden. Phone: 46 18 611 2799. Fax: 46 18 471 4808. E-mail: niklas.dahl{at}genpat.uu.se.

Molecular and Cellular Biology, May 2004, p. 4032-4037, Vol. 24, No. 9
0022-538X/04/$08.00+0     DOI: 10.1128/MCB.24.9.4032-4037.2004
Copyright © 2004, American Society for Microbiology. All Rights Reserved.



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