MSX1, PAX9, and TGFA contribute to tooth agenesis in humans.
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.
Department of Pediatrics, University of Iowa, Iowa City 52242-1083, USA. alexandre-vieira@uiowa.edu
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D000293:Adolescent; D000328:Adult; D000483:Alleles; D000848:Anodontia / Q000235:genetics*; D020029:Base Pairing / Q000235:genetics; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D051957:MSX1 Transcription Factor; D008297:Male; D008875:Middle Aged; D051764:PAX9 Transcription Factor; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*; D016211:Transforming Growth Factor alpha / Q000235:genetics*
D004268:DNA-Binding Proteins; D005819:Genetic Markers; D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human; D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; D014157:Transcription Factors; D016211:Transforming Growth Factor alpha