Elucidation of structural-functional relationships of genes related to teeth agenesis using reverse genetics

2019 Fiscal Year Final Research Report

• Project/Area Number: 16H05551
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Orthodontics/Pediatric dentistry
• Research Institution: The University of Tokushima
• Principal Investigator: YASUE Akihiro 徳島大学, 病院, 講師 (80380046)
• Co-Investigator(Kenkyū-buntansha): 田中 栄二 徳島大学, 大学院医歯薬学研究部(歯学域), 教授 (40273693)
• Project Period (FY): 2016-04-01 – 2020-03-31
• Keywords: 歯の発生 / ゲノム編集

Outline of Final Research Achievements

Msx1 is known as a causative gene for tooth agenesis and is also important for tooth development in mice. Its functional domains have been well studied using cultured cells, on the other hand, the analysis using mice has not been performed because the problem of the gene disruption technology and the cost. Then, we have tried functional analysis of each domain of the Msx1 gene in mice using the genome editing technology that has been developed in recent years. We found that the MH5 and MH6 domains downstream of the homeodomain are important for tooth and bone formation.

Free Research Field

歯の発生

Academic Significance and Societal Importance of the Research Achievements

組織・器官の発生過程における遺伝子機能の解析は、培養細胞系では困難な場合が多く、特に発生学研究の主役である転写因子の生体での解析には一定の歯止めがかかって来たのが現状である。これに伴い、ヒトで遺伝子変異が検出された場合も、本当に疾患責任変異かどうかの判定も困難な場合が多い。しかし、今回、動物を用いて検出変異の疾患責任性を検証することが可能とわかり、正しい遺伝子診断への展開も期待できるようになった。