Analysis of the mechanism by which mutations of the FAM83H gene cause amelogenesis imperfecta

2016 Fiscal Year Final Research Report

• Project/Area Number: 26460081
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Biological pharmacy
• Research Institution: Kyoto Pharmaceutical University
• Principal Investigator: Kuga Takahisa 京都薬科大学, 薬学部, 助教 (20551857)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: エナメル質形成不全症 / FAM83H / ケラチン

Outline of Final Research Achievements

FAM83H plays an essential role in the formation of dental enamel and its heterozygous mutation causes autosomal-dominant hypocalcified amelogenesis imperfecta. We have demonstrated that FAM83H regulates the organization of the keratin cytoskeleton in human colorectal cancer cells. In the present study, we showed that the keratin cytoskeleton in cultured ameloblastoma cells is also regulated by FAM83H. Mutant proteins of FAM83H prevented proper organization of the keratin cytoskeleton and concomitantly dis-localized component proteins of desmosomes form the cell-cell interface in cultured ameloblastoma cells. We additionally generated mice with a mutation in the FAM83H gene. We are testing whether the FAM83H mutation causes the disorganization of the keratin cytoskeleton and desmosomes in dental ameloblasts in vivo.

Free Research Field

分子細胞生物学