Studies on the molecular pathogenesis of the congenital anemia using zebrafish as a model

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09656
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: University of Miyazaki
• Principal Investigator: Uechi Tamayo 宮崎大学, フロンティア科学実験総合センター, 研究員 (10381104)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 翻訳異常 / リボソームタンパク質遺伝子 / ゼブラフィッシュ / ダイアモンド・ブラックファン貧血

Outline of Final Research Achievements

Diamond-Blackfan Anemia (DBA) is a congenital disease, which is predominantly thought to be caused by abnormalities in protein synthesis. Our studies using zebrafish as a model (developed by knocking down zebrafish orthologous genes that are mutated in DBA patients) indicates that the expressions of genes involved in glycosylation modification are suppressed at translational level but not at transcription level. Functional analysis of one of those genes in vivo suggests that the gene is involved in erythropoiesis during early development of zebrafish. These data indicate the glycosylation pathway may be implicated in the pathogenesis of DBA. To address this important questions we have developed a zebrafish strain carrying mutations in DBA-associated ribosomal protein genes using CRISPR/Cas9, genome-editing technology. The results from these studies will provide new insights into rational design of new treatments.

Free Research Field

分子遺伝学