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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2009.1
- 수록면
- 21 - 28 (8page)
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초록· 키워드
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Mutations in DLX3 are associated with both autosomal dominant hypoplastic hypomaturation amelogenesis imperfecta (ADHHAI) and tricho-dento-osseous (TDO) syndrome. ADHHAI is caused by a c.561_562delCT (2bpdel DLX3) mutation whereas TDO syndrome is associated with a c.571_574delGGGG (4bp-del DLX3) mutation. However, although the causal relationships between DLX3 and an enamel phenotype have been established, the
pathophysiological role of DLX3 mutations in enamel development has not yet been clarified. In our current study, we prepared expression vectors for wild type and deletion mutant DLX3 products (4bp-del DLX3, 2bp-del DLX3) and
examined the effects of their overexpression on the expression of the enamel matrix proteins and proteases. Wild type DLX3 enhanced the expression of matrix metalloprotease 20 (MMP20) mRNA and protein in murine ameloblast-like cells. However, neither a 4bp-del nor 2bpdel DLX3 increased MMP20 expression. Wild type DLX3, but not the above DLX3 mutants, also increased the activity of reporters containing 1.5 kb or 0.5 kb of the MMP20 promoter. An examination of protein stability showed that the half-life of wild type DLX3 protein was less than 12 h whilst that of both deletion mutants was longer than 24 h. Endogenous Dlx3 was also found to be continuously expressed during ameloblast differentiation. Since inactivating mutations in the gene encoding MMP20 are associated with amelogenesis imperfecta, the inability of
4bp-del or 2bp-del DLX3 to induce MMP20 expression suggests a possible involvement of such mutations in the enamel phenotype associated with TDO syndrome or ADHHAI.
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참고문헌 (26)
참고문헌 신청
Bartlett JD / 2006 / A developmental comparison of matrix metalloproteinase-20 and amelogenin null mouse enamel / Eur J Oral Sci 114 (1) : 18 ~ 23
Choi SJ / 2008 / A 4 bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro / Bone 42 : 162 ~ 171
Diamond E / 2006 / Functional interactions between Dlx2 and lymphoid enhancer factor regulate Msx2 / Nucleic Acids Res 34 : 5951 ~ 5965
Dong J / 2005 / DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism / Am J Med Genet A 133A : 138 ~ 141
Du C / 2005 / Supramolecular assembly of amelogenin nanospheres into birefringent microribbons / Science 307 : 1450 ~ 1454
Choi SJ / 2008 / A 4 bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro / Bone 42 : 162 ~ 171
Diamond E / 2006 / Functional interactions between Dlx2 and lymphoid enhancer factor regulate Msx2 / Nucleic Acids Res 34 : 5951 ~ 5965
Dong J / 2005 / DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism / Am J Med Genet A 133A : 138 ~ 141
Du C / 2005 / Supramolecular assembly of amelogenin nanospheres into birefringent microribbons / Science 307 : 1450 ~ 1454
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