title: Cloning, characterization and immunolocalization of human ameloblastin.
abstract: Amelogenesis imperfecta is a broad classification of hereditary enamel defects, exhibiting both genetic and clinical diversity. Most amelogenesis imperfecta cases are autosomal dominant disorders, yet only the local hypoplastic form has been mapped to human chromosome 4q between D4S242 1 and the albumin gene. An enamel protein cDNA, termed ameloblastin (also known as amelin and sheathlin), has been isolated from rat, mouse and pig. Its human homolog has been mapped to chromosome 4q21 between markers D4S409 and D4S400, flanking the local hypoplastic amelogenesis imperfecta critical region. Therefore, ameloblastin is a strong candidate gene for this form of amelogenesis imperfecta. To facilitate genetic studies related to this dental disease, we isolated and characterized a human ameloblastin cDNA. A human third molar cDNA library was screened and two ameloblastin clones identified. Nucleotide sequencing of these cDNAs indicated alternative splicing of the putative open reading frame, use of different polyadenylation signals, and a high degree of similarity to reported rat, mouse and porcine cDNAs. Immunohistochemistry studies on embryonic human teeth using an antibody to recombinant ameloblastin indicated ameloblastin expression by ameloblasts with localization in the enamel matrix associated with the sheath structures.
authors.affiliation: University of Texas Health Science Center at San Antonio, Dental School, 78229-3900, USA. MacDougall@UTHSCSA.edu
authors.forename: M
authors.initials: M
authors.lastname: MacDougall
authors.forename: D
authors.initials: D
authors.lastname: Simmons
authors.forename: T T
authors.initials: TT
authors.lastname: Gu
authors.forename: K
authors.initials: K
authors.lastname: Forsman-Semb
authors.forename: C K
authors.initials: CK
authors.lastname: Mårdh
authors.forename: M
authors.initials: M
authors.lastname: Mesbah
authors.forename: N
authors.initials: N
authors.lastname: Forest
authors.forename: P H
authors.initials: PH
authors.lastname: Krebsbach
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: A
authors.initials: A
authors.lastname: Berdal
mesh_terms: D017398:Alternative Splicing; D000565:Ameloblasts; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002894:Chromosomes, Human, Pair 4; D003001:Cloning, Molecular; D003746:Dental Enamel Proteins / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D007124:Immunoenzyme Techniques; D051379:Mice; D008969:Molecular Sequence Data; D008970:Molecular Weight; D051381:Rats; D017422:Sequence Analysis, DNA; D013552:Swine
chemical_list: C490889:AMBN protein, human; C490890:Ambn protein, mouse; C098519:Ambn protein, rat; D003746:Dental Enamel Proteins; C490891:ameloblastin protein, Sus scrofa