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Belloni, E., Muenke, M., Roessler, E., Traverso, G., Siegel-Bartelt, J., Frumkin, A., Mitchell, H.F., Donis-Keller, H., Helms, C., Hing, A.V., Heng, H.H., Koop, B., Martindale, D., Rommens, J.M., Tsui, L.C. and Scherer, S.W. (1996) Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature Genetics, 14, 353-356. doi:10.1038/ng1196-353

has been cited by the following article:

  • 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.