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Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia

Matsson, H ; Davey, EJ ; Frojmark, AS ; Miyake, Koichi LU ; Utsugisawa, Taiju LU ; Flygare, Johan LU ; Zahou, E ; Byman, I ; Landin, B and Ronquist, G , et al. (2006) In Blood Cells, Molecules & Diseases 36(2). p.259-264
Abstract
The human ribosomal protein S19 gene (RPS19) is mutated in approximately 20% of patients with Diamond-Black fan anemia (DBA), a congenital disease with a specific defect in erythropoiesis. The clinical expression of DBA is highly variable, and subclinical phenotypes may be revealed by elevated erythrocyte deaminase (eADA) activity only. In mice, complete loss of Rps19 results in early embryonic lethality whereas Rps19(+/-) mice are viable and without major abnormalities including the hematopoietic system. We have performed a detailed analysis of the Rps19(+/-) mice. We estimated the Rps19 levels in hematopoictic tissues and we analyzed erythrocyte deaminase activity and globin isoforms which are used as markers for DBA. The effect of a... (More)
The human ribosomal protein S19 gene (RPS19) is mutated in approximately 20% of patients with Diamond-Black fan anemia (DBA), a congenital disease with a specific defect in erythropoiesis. The clinical expression of DBA is highly variable, and subclinical phenotypes may be revealed by elevated erythrocyte deaminase (eADA) activity only. In mice, complete loss of Rps19 results in early embryonic lethality whereas Rps19(+/-) mice are viable and without major abnormalities including the hematopoietic system. We have performed a detailed analysis of the Rps19(+/-) mice. We estimated the Rps19 levels in hematopoictic tissues and we analyzed erythrocyte deaminase activity and globin isoforms which are used as markers for DBA. The effect of a disrupted Rps19 allele on a different genetic background was investigated as well as the response to erythropoietin (EPO). From our results, we argue that the loss of one Rps19 allele in mice is fully compensated for at the transcriptional level with preservation of erythropoiesis. (c) 2005 Elsevier Inc. All rights reserved. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
erythropoiesis, Diamond-Blackfan anemia, Rps19, mouse model
in
Blood Cells, Molecules & Diseases
volume
36
issue
2
pages
259 - 264
publisher
Elsevier
external identifiers
  • wos:000236661600031
  • scopus:33645282549
ISSN
1096-0961
DOI
10.1016/j.bcmd.2005.12.002
language
English
LU publication?
yes
id
4f5bfe24-e4d1-43ae-bc37-19b4e9b9c510 (old id 414624)
date added to LUP
2016-04-01 12:16:25
date last changed
2022-02-03 19:56:09
@article{4f5bfe24-e4d1-43ae-bc37-19b4e9b9c510,
  abstract     = {{The human ribosomal protein S19 gene (RPS19) is mutated in approximately 20% of patients with Diamond-Black fan anemia (DBA), a congenital disease with a specific defect in erythropoiesis. The clinical expression of DBA is highly variable, and subclinical phenotypes may be revealed by elevated erythrocyte deaminase (eADA) activity only. In mice, complete loss of Rps19 results in early embryonic lethality whereas Rps19(+/-) mice are viable and without major abnormalities including the hematopoietic system. We have performed a detailed analysis of the Rps19(+/-) mice. We estimated the Rps19 levels in hematopoictic tissues and we analyzed erythrocyte deaminase activity and globin isoforms which are used as markers for DBA. The effect of a disrupted Rps19 allele on a different genetic background was investigated as well as the response to erythropoietin (EPO). From our results, we argue that the loss of one Rps19 allele in mice is fully compensated for at the transcriptional level with preservation of erythropoiesis. (c) 2005 Elsevier Inc. All rights reserved.}},
  author       = {{Matsson, H and Davey, EJ and Frojmark, AS and Miyake, Koichi and Utsugisawa, Taiju and Flygare, Johan and Zahou, E and Byman, I and Landin, B and Ronquist, G and Karlsson, Stefan and Dahl, N}},
  issn         = {{1096-0961}},
  keywords     = {{erythropoiesis; Diamond-Blackfan anemia; Rps19; mouse model}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{259--264}},
  publisher    = {{Elsevier}},
  series       = {{Blood Cells, Molecules & Diseases}},
  title        = {{Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia}},
  url          = {{http://dx.doi.org/10.1016/j.bcmd.2005.12.002}},
  doi          = {{10.1016/j.bcmd.2005.12.002}},
  volume       = {{36}},
  year         = {{2006}},
}