title: Tuftelin: enamel mineralization and amelogenesis imperfecta.
abstract: Tuftelin is a novel acidic enamel protein thought to play a major role in enamel mineralization. Its identity and localization has been confirmed by amino acid composition, enzyme-linked immunosorbant assay, Western blots, indirect immunohistochemistry and high resolution protein-A gold immunocytochemistry. The deduced tuftelin protein (pI 5.2) contains 389 amino acids and has a calculated peptide molecular mass of 43,814 Da. Immunological studies suggest conservation of tuftelin structure between species throughout vertebrate evolution. The cDNA sequence encodes for several putative post-translation sites including one N-glycosylation consensus site, seven O-glycosylation sites and seven phosphorylation sites, as well as an EF-hand calcium-binding domain (with mismatch), localized towards the N-terminal region. At the C-terminal region (residues 252-345) tuftelin contains structurally relevant determinants for self assembly. We recently cloned and partially sequenced the human tuftelin gene (four exons have now been sequenced). These sequences include exon 1 and over 1000 bases of the putative promoter region. Employing fluorescent in situ hybridization, we mapped the human tuftelin gene to chromosome 1q 21-31. Localization of the human tuftelin gene to a well-defined cytogenetic region may be important in understanding the aetiology of autosomally inherited amelogenesis imperfecta, the most common enamel hereditary disease.
authors.affiliation: Dental Research Unit, Hadassab, Faculty of Dental Medicine, Hebrew University of Jerusalem, Israel.
authors.forename: D
authors.initials: D
authors.lastname: Deutsch
authors.forename: L
authors.initials: L
authors.lastname: Dafni
authors.forename: A
authors.initials: A
authors.lastname: Palmon
authors.forename: M
authors.initials: M
authors.lastname: Hekmati
authors.forename: M F
authors.initials: MF
authors.lastname: Young
authors.forename: L W
authors.initials: LW
authors.lastname: Fisher
mesh_terms: D000566:Amelogenesis / Q000235:genetics; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D002135:Calcium-Binding Proteins / Q000737:chemistry; D002878:Chromosomes, Human, Pair 1; D017124:Conserved Sequence; D003460:Crystallization; D003746:Dental Enamel Proteins / Q000737:chemistry* / Q000235:genetics / Q000502:physiology*; D006031:Glycosylation; D006801:Humans; D007150:Immunohistochemistry; D010766:Phosphorylation; D017433:Protein Structure, Secondary; D014074:Tooth Calcification / Q000502:physiology*; D014714:Vertebrates
chemical_list: D002135:Calcium-Binding Proteins; D003746:Dental Enamel Proteins; C038456:tuftelin