Fam83h 발현 억제에 의한 조법랑세포 Amelogenin 발현 변화
The effect of Fam83h knockdown on the amelogenin gene expression in the ameloblast cell line
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
치과유전질환의 하나인 법랑질 형성부전증은 유전적인 원인이 복잡할 뿐만 아니라 임상적인 양상 또한 다양하다. 법랑질형성부전증은 임상적 양상에 따라서 크게 저형성형, 저성숙형, 저석회화형의 3 종류로 분류된다. 최근 상염색체 우성 저석회화 법랑질 형성부전증의 원인 유전자로 밝혀진 Fam83h의 기능에 관하여 알려진 바가 없어, Fam83h의 발현억제가 조법랑세포의 아멜로제닌 발현에 미치는 영향을 불멸화된 조법랑세포주를 이용하여 분석한 결과, Fam83h의 발현이 억제되더라도아멜로제닌의 발현에 영향을 주지 않는 것으로 확인되었으며, 향후 추가적인 연구를 통한 전체 유전자의 발현양상 변화 등을통한 유전자 기능의 연구가 필요하리라 생각된다.
Abstract
Amelogenesis imperfecta, one of the dental genetic disease, is clinically and genetically complex disease. Amelogenesis imperfecta can be classified into three major categories according to clinical phenotype; hypoplastic,hypomaturation, and hypocalcification. Recently a novel gene, Fam83h, was identified to cause autosomal dominant hypocalcification amelogenesis imperfecta, however its functional role in the pathogenesis of enamel defect is not known yet. So this study was aimed to identify the knockdown effect of Fam83h gene on the amelogenin mRNA expression via shRNA transfection into immortalized ameloblast cell line. The result showed that the knockdown of Fam83h did not influence the amelogenin expression. Further study of the functional role of Fam83h gene should be performed to understand the complex nature of amelogenesis as well as molecular pathogenesis of amelogenesis imperfecta.
참고문헌 (25)
- 김정욱, "법랑질 형성부전증의 분자유전학적 고찰", 대한소아치과학회지, 35(1), pp.181~185 (2008), 대한소아치과학회
- 백병주, "법랑질형성부전증에 대한 증례보고", 대한소아치과학회지, 27, pp.499~504 (2000)
- Hart TC, "Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects", J Med Genet, 40, pp.900~906 (2003)
- Aldred MJ, "Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1)", Hum Genet, 90, pp.413~416 (1992)
- Kim JW, "Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta", J Dent Res, 83, pp.378~383 (2004)
- Rajpar MH, "Mutation of the gene encoding the enamel-specific protein,enamelin, causes autosomal-dominant amelogenesis imperfecta", Hum Mol Genet, 10, pp.1673~1677 (2001)
- Kim JW, "ENAM mutations in autosomal-dominant amelogenesis imperfecta", J Dent Res, 84, pp.278~282 (2005)
- Kim JW, "MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta", J Med Genet, 42, pp.271~275 (2005)
- Ozdemir D, "MMP20 active-site mutation in hypomaturation amelogenesis imperfecta", J Dent Res, 84, pp.1031~1035 (2005)
- Hart PS, "Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta", J Med Genet, 41, pp.545~549 (2004)
- Kim JW, "FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta", Am J Hum Genet, 82, pp.489~494 (2008)
- Lee SK, "Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification", Hum Mutat, 29, pp.E95~E99 (2008)
- El-Sayed W, "Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta", Am J Hum Genet, 85, pp.699~705 (2009)
- Nakata A, "Establishment and characterization of a spontaneously immortalized mouse ameloblast-lineage cell line", Biochem Biophys Res Commun, 308, pp.834~839 (2003)
- Fukae M, "Partial amino acid sequences of two proteins in developing porcine enamel", J Dent Res, 58, pp.1000~1001 (1979)
- Fincham AG, "Dental enamel matrix: sequences of two amelogenin polypeptides", Biosci Rep,, 1, pp.771~778 (1981)
- Fincham AG, "Amelogenins: Sequence homologies in enamelmatrix proteins from three mammalian species", Biochem J, 211, pp.149~154 (1983)
- Snead ML, "Construction and identification of mouse amelogenin cDNA clones", Proc Natl Acad Sci USA, 80, pp.7254~7258 (1983)
- Lau EC, "Human and mouse amelogenin gene loci are on the sex chromosomes", Genomics, 4, pp.162~168 (1989)
- Lagerstrom M, "A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)", Genomics, 10, pp.971~975 (1991)
- Hu JC, "Enamelin and autosomaldominant amelogenesis imperfecta", Crit Rev Oral Biol Med, 14, pp.387~398 (2003)
- Forsman K, "Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q", Hum Mol Genet, 3, pp.1621~1625 (1994)
- Karrman C, "Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4Q", Arch Oral Biol, 41, pp.893~900 (1996)
- Mendoza G, "A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3", Hum Genet, 120, pp.653~662 (2007)
- Ding Y, "Fam83h is associated with intracellular vesicles and ADHCAI", J Dent Res, 88, pp.991~996 (2009)