Amelogenesis imperfecta in a new animal model - a mutation in chromosome 5 (human 4q21)

Seedorf, H.; Springer, I.N.; Grundner-Culemann, E.; Albers, H.K.; Reis, A.; Fuchs, H.; de Angelis, M.H.; Acil, Y.

Amelogenesis imperfecta in a new animal model - a mutation in chromosome 5 (human 4q21)

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Item Type:	Article
Title:	Amelogenesis imperfecta in a new animal model - a mutation in chromosome 5 (human 4q21)
Creators Name:	Seedorf, H., Springer, I.N., Grundner-Culemann, E., Albers, H.K., Reis, A., Fuchs, H., de Angelis, M.H. and Acil, Y.
Abstract:	Candidate genes for amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are located on 4q21 in humans. We tested our hypothesis that mutations in the portion of mouse chromosome 5 corresponding to human chromosome 4q21 would cause enamel and dentin abnormalities. Male C3H mice were injected with ethylnitrosourea (ENU). Within a dominant ENU mutagenesis screen, a mouse mutant was isolated with an abnormal tooth enamel (ATE) phenotype. The structure and ultrastructure of teeth were studied. The mutation was located on mouse chromosome 5 in an interval of 9 cM between markers D5Mit18 and D5Mit10. Homozygotic mutants showed total enamel aplasia with exposed dentinal tubules, while heterozygotic mutants showed a significant reduction in enamel width. Dentin of mutant mice showed a reduced content of mature collagen cross-links. We were able to demonstrate that a mutation on chromosome 5 corresponding to human chromosome 4q21 can cause amelogenesis imperfecta and changes in dentin composition.
Keywords:	Amelogenesis Imperfecta (AI), Collagen Cross-Links, Hydroxyproline, Pyridinoline, Structure, Animals, Mice
Source:	Journal of Dental Research
ISSN:	0022-0345
Publisher:	International & American Associations for Dental Research
Volume:	83
Number:	8
Page Range:	608-612
Date:	1 January 2004
Official Publication:	https://doi.org/10.1177/154405910408300805
PubMed:	View item in PubMed

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