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MSX1, PAX9, and TGFA contribute to tooth agenesis in humans

Vieira, AR and Meira, R and Modesto, A and Murray, JC (2004) MSX1, PAX9, and TGFA contribute to tooth agenesis in humans. Journal of Dental Research, 83 (9). 723 - 727. ISSN 0022-0345

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Abstract

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.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Vieira, ARalexandre_vieira@pitt.eduARV11
Meira, R
Modesto, A
Murray, JC
Date: 1 January 2004
Date Type: Publication
Journal or Publication Title: Journal of Dental Research
Volume: 83
Number: 9
Page Range: 723 - 727
DOI or Unique Handle: 10.1177/154405910408300913
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0022-0345
MeSH Headings: Adolescent; Adult; Alleles; Anodontia--genetics; Base Pairing--genetics; Child; DNA-Binding Proteins--genetics; Exons--genetics; Female; Genetic Markers--genetics; Genotype; Haplotypes; Homeodomain Proteins--genetics; Humans; Introns--genetics; MSX1 Transcription Factor; Male; Middle Aged; PAX9 Transcription Factor; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sequence Analysis, DNA; Transcription Factors--genetics; Transforming Growth Factor alpha--genetics
PubMed ID: 15329380
Date Deposited: 18 Sep 2012 14:46
Last Modified: 02 Feb 2019 14:56
URI: http://d-scholarship.pitt.edu/id/eprint/14220

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