Clarification of the mechanism of germline mutation occurrence that causes familial tumor

2017 Fiscal Year Final Research Report

• Project/Area Number: 15H04298
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Tumor biology
• Research Institution: Kyushu University
• Principal Investigator: SAKUMI KUNIHIKO 九州大学, 生体防御医学研究所, 准教授 (50211933)
• Co-Investigator(Renkei-kenkyūsha): OKA Sugako 九州大学, 生体防御医学研究所, 特任助教 (80467894)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 生殖細胞突然変異 / がんと遺伝 / ミューテーターマウス / エクソーム解析 / 8-オキソグアニン / MTH1 / OGG1 / MUTYH

Outline of Final Research Achievements

To clarify the mechanism of germline mutation occurrence that causes familial tumor, we analyzed Mth1/Ogg1/Mutyh triple KO (TOY-KO) mice, which feature a mutator phenotype. At first we screened the causative gene of familial tumor observed in the TOY-KO mouse pedigree by whole exome sequence analysis, and determined a candidate gene. We established and cryopreserved a new TOY-KO mouse line. In addition to the TOY-KO mouse, we established TO-, OY-, TY-, T-, O- and Y-KO mice in the same genetic back ground. Using new TOY-KO mice, spontaneous tumorigenesis experiment has performed (continues). In these mice, we observed accumulation of mutations in nuclear genome, but not in the mitochondrial genome.

Free Research Field

腫瘍生物学