title: The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis.
abstract: It has been reported that two genes MSX1 and PAX9, which encode transcription factors, are associated with selective tooth agenesis. Expression of these genes specifically marks the regions of the mesenchyme where the tooth buds are formed. A mutation in the MSX1 gene, detected in a single family, resulting in an Arg-->Pro substitution in the homeodomain of the protein product of this gene has previously been associated with the deficiency of second premolars and third molars. However, mutations of the MSX1 gene were excluded in the patients with agenesis of the other type of teeth. In a single family with the lack of first and second molars, a mutation in the PAX9 gene was found. In our group of patients with the deficiency of various teeth, in 20% of the patients and their relatives sequence analysis revealed a C-->T transition in the coding sequence of the PAX9 gene. However, this polymorphism does not alter amino acid sequence of the protein product of this gene.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznań, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Kobielak
authors.forename: K
authors.initials: K
authors.lastname: Kobielak
authors.forename: A S
authors.initials: AS
authors.lastname: Wiśniewski
authors.forename: A
authors.initials: A
authors.lastname: Mostowska
authors.forename: B
authors.initials: B
authors.lastname: Biedziak
authors.forename: W H
authors.initials: WH
authors.lastname: Trzeciak
mesh_terms: D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D051764:PAX9 Transcription Factor; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014070:Tooth / Q000254:growth & development*; D014076:Tooth Diseases / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; D014157:Transcription Factors