Partial rescue of the amelogenin null dental enamel phenotype.
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.
Li
Yong
Y
Department of Anatomy and Cell Biology, University of Pennsylvania School of Dental Medicine, 240 S. 40th Street, Philadelphia, PA 19104-6030, USA.
Suggs
Cynthia
C
Wright
J Timothy
JT
Yuan
Zhi-an
ZA
Aragon
Melissa
M
Fong
Hanson
H
Simmons
Darrin
D
Daly
Bill
B
Golub
Ellis E
EE
Harrison
Gerald
G
Kulkarni
Ashok B
AB
Gibson
Carolyn W
CW
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
D053523:Amelogenin