DSPP Gene Dsp Mutation Affects Dental Development

Hereditary dentin dysplasia is a common autosomal recessive genetic disease in oral health, and the DSPP gene is one of the main pathogenic genes. This study aims to construct a mouse model of Dspp gene DSP segment point mutation p.V20G, observe the impact of DSPP gene DSP segment point mutation on tooth development, and provide references for the diagnosis and treatment of the disease. Using CRISPR-Cas9 gene knock-in technology to construct Dspp p.V20G point mutation mice, tail DNA was extracted for genotyping. Dental phenotypes were observed under a stereomicroscope at 3 weeks, 7 weeks, and 13 weeks of age. Both incisors of wild-type and mutant mice showed varying degrees of wear, with cuspal wear observed in upper and lower teeth. In Dspp v20G/v20G mice, the lower incisors exhibited cuspal defects, increased wear, and more severe caries in the lower jaw (Figures 1 and 2, Table 1). The Dspp p.V20G gene point mutation in mice affects the wear of hard dental tissues, leading to dentin exposure, reduction in tooth length, and causing the enamel of the homozygous phenotype to appear chalky white.

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Publication Details

Journal
International Dental Journal
Published
2025-10-01
DOI
https://doi.org/10.1016/j.identj.2025.104982
Primary Topic
Bone and Dental Protein Studies
Type
article
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article

DSPP Gene Dsp Mutation Affects Dental Development

Cai Haishen
International Dental Journal
Bone and Dental Protein Studies
article

DSPP Gene Dsp Mutation Affects Dental Development

Cai Haishen
article en

Abstract

Hereditary dentin dysplasia is a common autosomal recessive genetic disease in oral health, and the DSPP gene is one of the main pathogenic genes. This study aims to construct a mouse model of Dspp gene DSP segment point mutation p.V20G, observe the impact of DSPP gene DSP segment point mutation on tooth development, and provide references for the diagnosis and treatment of the disease. Using CRISPR-Cas9 gene knock-in technology to construct Dspp p.V20G point mutation mice, tail DNA was extracted for genotyping. Dental phenotypes were observed under a stereomicroscope at 3 weeks, 7 weeks, and 13 weeks of age. Both incisors of wild-type and mutant mice showed varying degrees of wear, with cuspal wear observed in upper and lower teeth. In Dspp v20G/v20G mice, the lower incisors exhibited cuspal defects, increased wear, and more severe caries in the lower jaw (Figures 1 and 2, Table 1). The Dspp p.V20G gene point mutation in mice affects the wear of hard dental tissues, leading to dentin exposure, reduction in tooth length, and causing the enamel of the homozygous phenotype to appear chalky white.

International Dental JournalVol. 75
Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital (CN)
Openalex Percentile: Top 54%
Bone and Dental Protein Studies
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DSPP Gene Dsp Mutation Affects Dental Development — Cai Haishen · International Dental Journal (2025) | TGRS Research Map | TGRS