Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia
Författare
Summary, in English
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.
Avdelning/ar
Publiceringsår
2006
Språk
Engelska
Sidor
259-264
Publikation/Tidskrift/Serie
Blood Cells, Molecules & Diseases
Volym
36
Issue
2
Dokumenttyp
Artikel i tidskrift
Förlag
Elsevier
Ämne
- Hematology
Nyckelord
- erythropoiesis
- Diamond-Blackfan anemia
- Rps19
- mouse model
Status
Published
ISBN/ISSN/Övrigt
- ISSN: 1096-0961