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Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants
Published on: March 29, 2018
Altered enamelin phosphorylation site causes amelogenesis imperfecta
H-C Chan1, L Mai, A Oikonomopoulou
1Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 N. University, Ann Arbor, MI 48109-1078, USA.
Journal of Dental Research
|May 5, 2010
Summary
Genetic defects in the enamelin gene (ENAM) cause enamel hypoplasia. This study identified a novel mutation impacting enamelin phosphorylation, crucial for proper tooth enamel formation.
Area of Science:
- Genetics
- Biochemistry
- Dentistry
Background:
- Amelogenesis imperfecta (AI) is a group of inherited disorders affecting tooth enamel formation.
- Defects in the enamelin gene (ENAM) are a known cause of AI.
- Identifying the genetic basis of enamel hypoplasia is crucial for understanding and treating these conditions.
Observation:
- A Caucasian proband presented with enamel hypoplasia.
- The proband and his father carried a previously identified ENAM insertion mutation.
- The proband, his brother, and mother harbored a novel ENAM missense mutation (p.S216L).
Findings:
- The novel mutation affects a phosphorylated serine (Ser216) in the 32-kDa enamelin cleavage product.
- A single defective ENAM allele resulted in minor enamel pitting or localized hypoplasia.
- Defects in both ENAM alleles led to severe enamel malformations with poor mineralization.
Implications:
- Phosphorylation of enamelin at Ser216 is critical for its function in tooth enamel development.
- This study elucidates the genotype-phenotype correlation for ENAM mutations.
- Understanding enamelin phosphorylation pathways may offer therapeutic targets for AI and other enamel defects.
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