Studies on quantitative evaluation of inherited germline mutations

2016 Fiscal Year Final Research Report

• Project/Area Number: 25281027
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Risk sciences of radiation and chemicals
• Research Institution: National Institute of Health Sciences
• Principal Investigator: Masumura Kenichi 国立医薬品食品衛生研究所, 変異遺伝部, 室長 (40291116)
• Co-Investigator(Renkei-kenkyūsha): NOHMI Takehiko 国立医薬品食品衛生研究所, 安全性生物試験研究センター, 客員研究員 (30150890) ; HONMA Masamitsu 国立医薬品食品衛生研究所, 変異遺伝部, 部長 (30250179) ; TOYODA Naomi (HOKAIWADO Naomi) 国立医薬品食品衛生研究所, 変異遺伝部, 非常勤職員 (70381853)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: 遺伝毒性 / ゲノム / 次世代影響 / 遺伝子突然変異 / 環境変異原 / 次世代シークエンサー / 生殖細胞突然変異

Outline of Final Research Achievements

De novo germline mutations and their health effects in next generation are important in genetic toxicology. Inherited germline mutations in mice induced by N-ethyl-N-nitrosourea (ENU) were analyzed by whole-exome sequencing. Male gpt delta mice were treated with ENU　and mated with untreated females. ENU-treated and control families were used for whole-exome sequencing. Single nucleotide variants (SNVs) and de novo mutations in the offspring were detected. Frequencies of inherited mutations increased with dosage. The result suggests that direct sequencing analysis may be a useful tool to investigate inherited germline mutations induced by environmental mutagens.

Free Research Field

遺伝毒性学