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

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.

• Author: H Matsson; EJ Davey; AS Frojmark; Koichi Miyake; Taiju Utsugisawa; Johan Flygare; E Zahou; I Byman; B Landin; G Ronquist; Stefan Karlsson; N Dahl
• Department/s: Division of Molecular Medicine and Gene Therapy
• Publishing year: 2006
• Language: English
• Pages: 259-264
• Publication/Series: Blood Cells, Molecules & Diseases
• Volume: 36
• Issue: 2
• Links: http://dx.doi.org/10.1016/j.bcmd.2005.12.002
• Document type: Journal article
• Publisher: Elsevier
• Topic: Hematology
• Keywords: erythropoiesis; Diamond-Blackfan anemia; Rps19; mouse model
• Status: Published
• ISBN/ISSN/Other: ISSN: 1096-0961