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Tao, R., Jin, B., Guo, S.Z., Qing, W., Feng, G.Y., Brooks, D.G., Liu, L., Xu, J., Li, T., Yan, Y. and He, L. (2006) A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. Journal of Human Genetics, 51, 498-502. doi:10.1007/s10038-006-0389-2

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• TITLE: Lef1 may contribute to agenesis of the third molars in mice

  AUTHORS: Takehiko Shimizu, Takahiro Ichinosawa, Yuri Kiguchi, Fusae Ishida, Takahide Maeda

  KEYWORDS: Hypodontia; Gene Expression; EL Mice

  JOURNAL NAME: Open Journal of Stomatology, Vol.3 No.5, July 24, 2013

  ABSTRACT: Tooth agenesis is the most common developmental anomaly of the human dentition. Epilepsy-like disorder (EL) mice, which have a 100% incidence of agenesis of the third molars, may be a good model for the genetic study of human tooth agenesis. Our previous congenic breeding strategy using EL mice confined a major locus for agenesis of M3, designated am3, within an approximately 1 Mega base pair (Mbp) interval on chromosome 3, which contains five known genes; Lef1, Hadh, Cyp2u1, Sgms2 and Papss1. The aim of this study was to identify the strongest candidate for am3 among the five genes using real-time PCR analysis. The tooth germs of M3 in the bud stage of EL and control mice were dissected out, and total RNA was extracted. In real-time PCR analysis, a significantly low level of expression of Lef1, which is one of the essential transcription factors for early tooth development, was observed in M3 of EL mice. In addition, a significantly low level of expression of Fgf4, which is a direct transcriptional target for LEF1 in early tooth development, was observed in M3 of EL mice. Our results suggest that the cause of M3 agenesis of EL mice may be a low level of Lef1 expression in M3 in the bud stage of EL mice.