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Enamel Structure Defects in Kdf1 Missense Mutation Knock-in Mice
Pei Li1, Binghui Zeng1, Weihong Xie1
1Guanghua School of Stomatology, Hospital of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-Sen University, Guangzhou 510055, China.
Biomedicines
|February 25, 2023
Summary
Keratinocyte differentiation factor 1 (KDF1) mutations cause defective tooth enamel in mice. This study reveals KDF1
Area of Science:
- Biochemistry
- Genetics
- Developmental Biology
Background:
- Keratinocyte differentiation factor 1 (KDF1) is implicated in human tooth formation.
- The specific dental phenotype and role of KDF1 in hard tissue development remain largely unknown.
Purpose of the Study:
- To investigate the dental phenotype of KDF1 mutant mice.
- To elucidate the role of the KDF1 gene in dental hard tissue development using a novel knock-in model.
Main Methods:
- Construction of a Kdf1 missense mutation knock-in mouse model via CRISPR/Cas9 gene editing.
- Analysis of enamel structure and properties using micro-CT, SEM, AFM, and Raman microspectroscopy.
Main Results:
- Successful construction of Kdf1 missense mutation knock-in mice (c. 908G>C, p.R303P).
- Homozygous mutants exhibited chalky, defective enamel with exposed dentin.
- Micro-CT revealed reduced enamel volume and mineral density.
- SEM and AFM showed abnormal enamel prism structure, disordered crystal arrangement, and fused enamel rods.
- Raman microspectroscopy indicated compromised crystal order and altered chemical composition.
Conclusions:
- KDF1 missense mutation leads to significant enamel structure defects in mice.
- These defects include altered prism morphology, reduced mineralization, and compromised crystal organization.
- Findings suggest a crucial role for KDF1 in normal enamel development.
