Journal of the Korean Academy of Pediatric Dentistry 2010;37(4):467-471.
Published online November 30, 2010.
THE EFFECT OF Fam83h KNOCKDOWN ON THE AMELOGENIN GENE EXPRESSION IN THE AMELOBLAST CELL LINE
Sook-Kyung Lee, Kyung-Eun Lee, Jung-Wook Kim
Department of Pediatric Dentistry, School of Dentistry, Seoul National University 
Fam83h 발현 억제에 의한 조법랑세포 Amelogenin 발현 변화
이숙경, 이경은, 김정욱
서울대학교 치과대학 소아치과학교실
Correspondence:  Jung-Wook Kim,  Tel: 02-2072-2639, Email: pedoman@snu.ac.kr
Received: 5 September 2010   • Accepted: 4 November 2010
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.
Key Words: Enamel, Amelogenesis imperfecta, Fam83h, Knockdown, Ameloblast


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