title: Cloning and characterization of the mouse and human enamelin genes.
abstract: Enamelin is likely to be essential for proper dental enamel formation. It is secreted by ameloblasts throughout the secretory stage and can readily be isolated from the enamel matrix of developing teeth. The gene encoding human enamelin is located on the long arm of chromosome 4, in a region previously linked to an autosomal-dominant form of amelogenesis imperfecta (AI). To gain information on the structure of the enamelin gene and to facilitate the future assessment of the role of enamelin in normal and diseased enamel formation, we have cloned and characterized the mouse and human enamelin genes. Both genes are about 25 kilobases long. The enamelin gene has 10 exons interrupted by 9 introns. Translation initiates in exon 3 and terminates in exon 10. All of the intron/exon junctions within the mouse and human enamelin coding regions are between codons, so there are no partial codons in any exon, and deletion of one or more coding exons by alternative RNA splicing would not shift the downstream reading frame.
authors.affiliation: University of Texas Health Science Center at San Antonio, School of Dentistry, Department of Pediatric Dentistry, 78229-3900, USA. huj@uthscsa.edu
authors.forename: J C
authors.initials: JC
authors.lastname: Hu
authors.forename: C H
authors.initials: CH
authors.lastname: Zhang
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
authors.forename: C
authors.initials: C
authors.lastname: Kärrman-Mårdh
authors.forename: K
authors.initials: K
authors.lastname: Forsman-Semb
authors.forename: J P
authors.initials: JP
authors.lastname: Simmer
mesh_terms: D000565:Ameloblasts / Q000378:metabolism; D000566:Amelogenesis / Q000235:genetics; D000567:Amelogenesis Imperfecta / Q000235:genetics; D000818:Animals; D001482:Base Composition; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D019976:Cloning, Organism; D003062:Codon / Q000235:genetics; D003746:Dental Enamel Proteins / Q000235:genetics*; D004658:Enamel Organ / Q000378:metabolism; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007438:Introns / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D016364:Reading Frames / Q000235:genetics; D017422:Sequence Analysis, DNA; D014083:Tooth Germ / Q000378:metabolism
chemical_list: D003062:Codon; D003746:Dental Enamel Proteins; C038456:tuftelin