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

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.

journal_name

J Dent Res

authors

Vieira AR,Meira R,Modesto A,Murray JC

doi

10.1177/154405910408300913

keywords:

subject

Has Abstract

pub_date

2004-09-01 00:00:00

pages

723-7

issue

9

eissn

0022-0345

issn

1544-0591

pii

83/9/723

journal_volume

83

pub_type

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