エナメル質形成不全症の新規責任遺伝子変異の発見とその意義 : 転写因子Sp6をめぐるパズル

Tooth is one of the essential organs in our body, and plays the important roles to maintain and improve our quality of life (QOL). Regenerative medicine has been achieving the remarkable progress for several years, and tooth is also one of the hot research targets for regeneration therapy. To regenerate tooth, we need to understand whole tooth developmental program at molecular level. Reverse genetics has brought us many molecular details at the early stage of tooth development, however, the late stage of tooth development is not fully understood. We are now trying to elucidate the molecular paradigm on the development of dental epithelial cells.
During these studies, we found the new genetic linkage between amelogenesis imperfecta (AI) and a 2-bp insertional mutation of transcription factor Sp6, and proposed it as a new molecular diagnostic candidate for AI patients.
In this review, I would like to summarize about AI based on the responsible genes including current topics in the late stage of tooth development, and to discuss about what we can learn from those for regenerative tooth and future direction.