ウツギサワ タイジユ   UTSUGISAWA Taiju
  槍澤 大樹
   所属   医学部 医学科(東京女子医科大学病院)
   職種   講師
論文種別 原著
言語種別 英語
査読の有無 査読あり
表題 Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.
掲載誌名 正式名:Blood cells, molecules & diseases
略  称:Blood Cells Mol Dis
ISSNコード:10799796/10799796
掲載区分国外
巻・号・頁 36(2),pp.259-264
著者・共著者 Matsson H, Davey E J, Fröjmark A S, Miyake K, Utsugisawa T, Flygare J, Zahou E, Byman I, Landin B, Ronquist G, Karlsson S, Dahl N
発行年月 2006
概要 The human ribosomal protein S19 gene (RPS19) is mutated in approximately 20% of patients with Diamond-Blackfan 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 hematopoietic 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.
DOI 10.1016/j.bcmd.2005.12.002
PMID 16458028