title: Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes.
abstract: Hypodontia, congenital lack of one or a few teeth, is an autosomally inherited dominant trait. Homeobox genes MSX1 and MSX2 are expressed in presumptive dental tissues at the stage of initiation of tooth development. Recently, tooth development was shown to be inhibited in transgenic mice lacking a functional Msx1 gene. Here, we studied the relationship of the MSX1 and MSX2 genes to familial hypodontia in five Finnish families with a total of 20 affected individuals, by linkage analysis. The pairwise lod-scores regarding the intragenic microsatellites in the MSX1 and MSX2 genes at a recombination fraction of 0.0 were -3.1 and -3.0, respectively, thus excluding these genes as causative loci for hypodontia in these families.
authors.affiliation: Department of Pedodontics and Orthodontics, University of Helsinki, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Nieminen
authors.forename: S
authors.initials: S
authors.lastname: Arte
authors.forename: S
authors.initials: S
authors.lastname: Pirinen
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
authors.forename: I
authors.initials: I
authors.lastname: Thesleff
mesh_terms: D000848:Anodontia / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005387:Finland; D005799:Genes, Dominant; D005801:Genes, Homeobox; D008040:Genetic Linkage; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D051957:MSX1 Transcription Factor; D008297:Male; D010375:Pedigree; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; C084119:MSX2 protein; D014157:Transcription Factors