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Lrp6 Dynamic Expression in Tooth Development and Mutations in Oligodontia
1Department of Prosthodontics, Peking University School and Hospital of Stomatology and National Clinical Research Center for Oral Diseases and National Engineering Laboratory for Digital and Material Technology of Stomatology and Beijing Key Laboratory of Digital Stomatology, Beijing, China.
Journal of Dental Research
|November 9, 2020
Summary
New mutations in the LRP6 gene cause tooth agenesis and may link to ectodermal dysplasia. LRP6 expression changes during tooth development, impacting WNT signaling.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Biology
Background:
- WNT pathway genes are crucial in tooth agenesis.
- Low-density lipoprotein receptor-related protein 6 (LRP6) is linked to autosomal dominant tooth agenesis.
Purpose of the Study:
- Identify novel LRP6 mutations in tooth agenesis patients.
- Investigate LRP6's role in tooth development.
Main Methods:
- Whole-exome sequencing to identify mutations.
- Bioinformatics and reporter assays to assess WNT signaling.
- RNAscope in situ hybridization for gene expression analysis.
Main Results:
- Four novel LRP6 mutations found in 4/77 oligodontia patients.
- A nonsense LRP6 mutation linked to hypohidrotic ectodermal dysplasia.
- LRP6 mutations impair WNT/β-catenin signaling.
- Dynamic LRP6 expression observed during mouse tooth development (E11.5-E16.5).
Conclusions:
- Expands the spectrum of LRP6 mutations in tooth agenesis.
- First report of LRP6 mutation in hypohidrotic ectodermal dysplasia.
- Reveals dynamic LRP6 expression patterns crucial for tooth development.
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