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Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation

På svenska

Author

  • Hans Matsson
  • Natalia Draptchinskaia
  • Isao Hamaguchi
  • Andreas Ooka
  • Per Levéen
  • Erik Forsberg
  • Stefan Karlsson
  • Niklas Dahl
  • Edward J. Davey

Summary, in English

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.

Publishing year

2004

Language

English

Pages

4032-4037

Publication/Series

Molecular and Cellular Biology

Volume

24

Issue

9

Document type

Journal article

Publisher

American Society for Microbiology

Topic

  • Hematology

Status

Published

ISBN/ISSN/Other

  • ISSN: 0270-7306