AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity
Journal
Molecular Genetics and Genomic Medicine
Journal Volume
7
Journal Issue
9
Pages
e929
Date Issued
2019
Author(s)
Liang T.
Hu Y.
Smith C.E.
Richardson A.S.
Zhang H.
Yang J.
Lin B.
Kim J.-W.
Chun Y.-H.
Simmer J.P.
Hu J.C.C.
Abstract
BACKGROUND: Ameloblastin (AMBN) is a secreted matrix protein that is critical for the formation of dental enamel and is enamel-specific with respect to its essential functions. Biallelic AMBN defects cause non-syndromic autosomal recessive amelogenesis imperfecta. Homozygous Ambn mutant mice expressing an internally truncated AMBN protein deposit only a soft mineral crust on the surface of dentin. METHODS: ) knockin mice. RESULTS: mice, but pockets of amelogenin accumulated on the dentin surface along the ameloblast distal membrane and within the enamel organ epithelia (EOE). NLS-lacZ signal was positive in the epididymis and nasal epithelium, but negative in ovary, oviduct, uterus, prostate, seminal vesicles, testis, submandibular salivary gland, kidney, liver, bladder, and bone, even after 15 hr of incubation with X-gal. CONCLUSIONS: Ameloblastin is critical for the initiation of enamel ribbon formation, and its absence results in pathological mineralization within the enamel organ epithelia.
Publisher
Wiley-Blackwell
Type
journal article