Cell lineage analysis by using post-zygotic spontaneous mutations

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K19340
• Research Category: Grant-in-Aid for Challenging Research (Exploratory)
• Allocation Type: Multi-year Fund
• Review Section: Medium-sized Section 44:Biology at cellular to organismal levels, and related fields
• Research Institution: Osaka University
• Principal Investigator: UCHIMURA Arikuni 大阪大学, 生命機能研究科, 招へい教員 (20513063)
• Project Period (FY): 2018-06-29 – 2021-03-31
• Keywords: 突然変異 / 次世代シーケンサー / 細胞系譜

Outline of Final Research Achievements

For understanding the developmental system of multicellular organisms, it is important to understand the cell lineages during the developmental stage. In this study, whole-genome sequencing was performed on adult mouse tissue samples to accurately identify mutations naturally occurring during early development (observed as mosaic-state mutations in tissues). By measuring their variant allelle frequencies and analyzing them with methmatical model, we succeeded in developing a new methodology that enables to reconstruct early embryonic cell lineages.

Free Research Field

分子遺伝学

Academic Significance and Societal Importance of the Research Achievements

本研究で開発に成功した「細胞系譜の解析技術」は、既存の方法に比べて、大きな優位性をもつが、シーケンシング時のカバレッジを増加させれば、さらに詳細な細胞系譜図の構築が可能になる。また、遺伝子組み換え技術を必要としないため、ヒト検体でも、すぐに応用可能な方法論である。医学研究も含めて、今後の生命科学の様々な領域で活用されていくと考えられる技術であり、学術的にも社会的にも意義の大きい研究だと考えられる。