title: A transgenic animal model resembling amelogenesis imperfecta related to ameloblastin overexpression.
abstract: Genetic diseases that affect tooth enamel are grouped under the classification amelogenesis imperfecta. Human pedigrees and experiments on transgenic and null mice have all demonstrated that mutations to the secreted proteins amelogenin, enamelin, and enamelysin result in visibly, structurally, or mechanically defective enamel. In an attempt to better define a physiologic function for ameloblastin during enamel formation, we have produced transgenic mice that misexpress the ameloblastin gene. These transgenic animals exhibit imperfections in their enamel that is evident at the nanoscale level. Specifically, ameloblastin overexpression influences enamel crystallite habit and enamel rod morphology. These findings suggest enamel crystallite habit and rod morphology are influenced by the temporal and spatial expression of ameloblastin and may implicate the role of the ameloblastin gene locus in the etiology of a number of undiagnosed autosomally dominant cases of amelogenesis imperfecta.
authors.affiliation: University of Southern California, School of Dentistry, Center for Craniofacial Molecular Biology, Los Angeles, California 90033, USA. paine@usc.edu
authors.forename: Michael L
authors.initials: ML
authors.lastname: Paine
authors.forename: Hong-Jun
authors.initials: HJ
authors.lastname: Wang
authors.forename: Wen
authors.initials: W
authors.lastname: Luo
authors.forename: Paul H
authors.initials: PH
authors.lastname: Krebsbach
authors.forename: Malcolm L
authors.initials: ML
authors.lastname: Snead
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003743:Dental Enamel / Q000254:growth & development / Q000648:ultrastructure; D003746:Dental Enamel Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D004195:Disease Models, Animal; D005109:Extracellular Matrix / Q000378:metabolism; D015870:Gene Expression; D006720:Homozygote; D006868:Hydrolysis; D007150:Immunohistochemistry; D007180:Incisor / Q000737:chemistry / Q000254:growth & development; D051379:Mice; D008822:Mice, Transgenic; D008855:Microscopy, Electron, Scanning; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic
chemical_list: C490889:AMBN protein, human; C490890:Ambn protein, mouse; D003746:Dental Enamel Proteins