2019 Fiscal Year Annual Research Report
The role of ROGDI during enamel formation
| Project/Area Number |
18K17261
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| Research Institution | The University of Tokushima |
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Principal Investigator |
MITSUI S.NAOMI 徳島大学, 大学院医歯薬学研究部(歯学域), 徳島大学専門研究員 (70786152)
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| Project Period (FY) |
2018-04-01 – 2020-03-31
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| Keywords | Amelogenesis imperfecta / Genome editing / Tooth development |
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| Outline of Annual Research Achievements |
Rogdi deficient mice which were created using genome editing technologies showed enamel defects similar to patients with Kohlschutter-Tonz syndrome carrying Rogdi autosomal-recessive mutations. Although bone defects were not previously observed in humans, Rogdi deficient mice showed mineralization defects in the calvaria and long bones. Seizures were observed sporadically in some Rogdi deficient mice.
By analyzing several alleles with nonsense mutations in Rogdi and the corresponding phenotypes in mice, the results suggest that translation not only occurs in the start codon, but also an illegitimate translation occurs from the second methionine located near the start codon.
Immunohistochemistry analysis showed ROGDI expression in ameloblasts increases gradually from secretory to maturation stage. In addition, ROGDI expression was also verified in growth plate of distal femur and proximal tibia, suggesting the importance of ROGDI not only during enamel formation but also during bone formation.
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