Detection of mouse germline mutations by ultra-throughput genomic analyses and development of the risk assessment system for low-dose mutagens

2016 Fiscal Year Final Research Report

• Project/Area Number: 25241016
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Environmental impact assessment
• Research Institution: Institute of Physical and Chemical Research
• Principal Investigator: Gondo Yoichi 国立研究開発法人理化学研究所, バイオリソースセンター, チームリーダー (40225678)
• Co-Investigator(Kenkyū-buntansha): 姫野 龍太郎 国立研究開発法人理化学研究所, 情報基盤センター, センター長 (60342838) ; 茶野 徳宏 滋賀医科大学, 医学部, 准教授 (40346028) ; 舘田 英典 九州大学, 理学(系)研究科(研究院), 教授 (70216985) ; 大野 みずき 九州大学, 医学(系)研究科(研究院), 助教 (70380524)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: 自然発生突然変異 / ゲノム解析 / トランスクリプトーム解析 / ビッグデータ / ミュータジェネシス / ゲノム機能解析 / 集団遺伝学 / バイオインフォーマティクス

Outline of Final Research Achievements

We originally developed a “complete outbreeding method,” with which we succeeded in accumulating more than 1000 spontaneous mutations to a standard mouse inbred strain just in a year. We comprehensively identified de novo germline mutations as well as predisposed genetic variations with extremely high precision, which should give a powerful tool for the genetic risk assessment like very low dose radiations. We also succeeded in tracing the origin of each identified mutations in each pedigree and found that many de novo mutations had arisen in a very early developmental stage.
In parallel, we analyzed the biological functions of newly induced mutations and identified and established many mutant strains encompassing human disease models. We also constructed an open platform to make all the dataset and results available to the community.

Free Research Field

遺伝学