title: Partial rescue of the amelogenin null dental enamel phenotype.
abstract: The amelogenins are the most abundant secreted proteins in developing dental enamel. Enamel from amelogenin (Amelx) null mice is hypoplastic and disorganized, similar to that observed in X-linked forms of the human enamel defect amelogenesis imperfecta resulting from amelogenin gene mutations. Both transgenic strains that express the most abundant amelogenin (TgM180) have relatively normal enamel, but strains of mice that express a mutated amelogenin (TgP70T), which leads to amelogenesis imperfecta in humans, have heterogeneous enamel structures. When Amelx null (KO) mice were mated with transgenic mice that produce M180 (TgM180), the resultant TgM180KO offspring showed evidence of rescue in enamel thickness, mineral density, and volume in molar teeth. Rescue was not observed in the molars from the TgP70TKO mice. It was concluded that a single amelogenin protein was able to significantly rescue the KO phenotype and that one amino acid change abrogated this function during development.
authors.affiliation: Department of Anatomy and Cell Biology, University of Pennsylvania School of Dental Medicine, 240 S. 40th Street, Philadelphia, PA 19104-6030, USA.
authors.forename: Yong
authors.initials: Y
authors.lastname: Li
authors.forename: Cynthia
authors.initials: C
authors.lastname: Suggs
authors.forename: J Timothy
authors.initials: JT
authors.lastname: Wright
authors.forename: Zhi-an
authors.initials: ZA
authors.lastname: Yuan
authors.forename: Melissa
authors.initials: M
authors.lastname: Aragon
authors.forename: Hanson
authors.initials: H
authors.lastname: Fong
authors.forename: Darrin
authors.initials: D
authors.lastname: Simmons
authors.forename: Bill
authors.initials: B
authors.lastname: Daly
authors.forename: Ellis E
authors.initials: EE
authors.lastname: Golub
authors.forename: Gerald
authors.initials: G
authors.lastname: Harrison
authors.forename: Ashok B
authors.initials: AB
authors.lastname: Kulkarni
authors.forename: Carolyn W
authors.initials: CW
authors.lastname: Gibson
mesh_terms: D053523:Amelogenin / Q000235:genetics / Q000378:metabolism*; D019943:Amino Acid Substitution; D000818:Animals; D003743:Dental Enamel / Q000254:growth & development / Q000378:metabolism* / Q000648:ultrastructure; D003744:Dental Enamel Hypoplasia / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008963:Molar / Q000254:growth & development / Q000378:metabolism* / Q000648:ultrastructure; D009929:Organ Size / Q000235:genetics
chemical_list: D053523:Amelogenin