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

Matsson, Hans; Draptchinskaia, Natalia; Hamaguchi, Isao LU ; Ooka, Andreas LU ; Levéen, Per LU ; Forsberg, Erik; Karlsson, Stefan LU ; Dahl, Niklas and Davey, Edward J. (2004) In Molecular and Cellular Biology 24(9). p.4032-4037
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Molecular and Cellular Biology
volume
24
issue
9
pages
4032 - 4037
publisher
American Society for Microbiology
external identifiers
  • wos:000220898100041
  • pmid:15082795
  • scopus:1942486326
ISSN
0270-7306
DOI
10.1128/MCB.24.9.4032-4037.2004
language
English
LU publication?
yes
id
cbd05e59-a053-40fc-a932-16b6a46eaaae (old id 141924)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15082795&query_hl=49
date added to LUP
2007-07-11 12:43:46
date last changed
2017-11-19 03:34:28
@article{cbd05e59-a053-40fc-a932-16b6a46eaaae,
  abstract     = {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.},
  author       = {Matsson, Hans and Draptchinskaia, Natalia and Hamaguchi, Isao and Ooka, Andreas and Levéen, Per and Forsberg, Erik and Karlsson, Stefan and Dahl, Niklas and Davey, Edward J.},
  issn         = {0270-7306},
  language     = {eng},
  number       = {9},
  pages        = {4032--4037},
  publisher    = {American Society for Microbiology},
  series       = {Molecular and Cellular Biology},
  title        = {Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation},
  url          = {http://dx.doi.org/10.1128/MCB.24.9.4032-4037.2004},
  volume       = {24},
  year         = {2004},
}