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A mutation in the enamelin gene in a mouse model
1Department of Prosthetic Dentistry, University Medical Center, Hamburg-Eppendorf, Martinistr. 52, D-20246 Hamburg, Germany. seedorf@uke.uni-hamburg.de
Journal of Dental Research
|July 27, 2007
Summary
Researchers identified a novel mutation in the enamelin (ENAM) gene responsible for amelogenesis imperfecta in a mouse model. This finding establishes a valuable animal model for studying this inherited tooth enamel disorder.
Area of Science:
- Genetics
- Developmental Biology
- Oral Biology
Background:
- Amelogenesis imperfecta (AI) is a group of inherited disorders affecting tooth enamel formation.
- A spontaneous mouse mutation (ATE1) exhibited an AI phenotype, previously mapped to mouse chromosome 5.
- Candidate genes within the mapped region, including enamelin (ENAM) and ameloblastin (AMBN), were investigated.
Purpose of the Study:
- To identify the genetic cause of amelogenesis imperfecta in the ATE1 mouse strain.
- To determine if mutations in ENAM or AMBN are responsible for the observed phenotype.
Main Methods:
- Positional candidate gene analysis was performed.
- Sequencing of the enamelin (ENAM) and ameloblastin (AMBN) genes was conducted.
- Analysis of the ATE1 mouse genome and enamelin transcript.
Main Results:
- A critical C > T transition mutation was identified in exon 8 of the enamelin (ENAM) gene in ATE1 mice.
- This mutation leads to a premature stop codon (Gln176X) in the enamelin protein, resulting in truncation.
- No mutations were detected in the ameloblastin (AMBN) gene.
Conclusions:
- The identified ENAM mutation is the causative factor for the amelogenesis imperfecta phenotype in ATE1 mice.
- The ATE1 mouse strain serves as a relevant genetic model for human autosomal-dominant hypoplastic amelogenesis imperfecta (AIH2) linked to ENAM mutations.
- This discovery aids in understanding the molecular mechanisms underlying tooth enamel development and related disorders.
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