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J Dent Res 83(9):723-727, 2004
© 2004 International and American Associations for Dental Research

RESEARCH REPORT
Clinical

MSX1, PAX9, and TGFA Contribute to Tooth Agenesis in Humans

A.R. Vieira1,*, R. Meira4,5, A. Modesto4, and J.C. Murray1,2,3

1 Departments of Pediatrics,
2 Biological Sciences, and
3 Genetics PhD Program, 2182 ML, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242-1083, USA;
4 Department of Pediatric Dentistry and Orthodontics, Federal University of Rio de Janeiro, RJ, Brazil; and
5 Bolsista da CAPES, Brasília, Brazil;

* corresponding author, alexandre-vieira{at}uiowa.edu

In this study, we sought to determine the association between tooth agenesis and DNA sequence variation in the genes MSX1 and PAX9 in an ethnically diverse human population. Since cleft lip/palate is also associated with both tooth agenesis and the gene TGFA, we included TGFA in the analysis as well. Cheek swab samples were obtained for DNA analysis from 116 case/parent trios. Probands had at least one developmentally missing tooth, excluding third molars. Genotyping was performed by single-strand conformational polymorphism or kinetic polymerase chain-reaction assays. Transmission distortion of the marker alleles and DNA sequence analysis was performed. Results showed that tooth agenesis is associated with markers of the genes MSX1 and TGFA. No mutations were found in MSX1 or PAX9 coding regions. There were statistically significant data suggesting that MSX1 interacts with PAX9. These findings suggest that MSX1, PAX9, and TGFA play a role in isolated dental agenesis.

KEY WORDS: anodontia • hypodontia • homeobox • transcription factors • transforming growth factor alpha




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