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学科主题口腔医学
A novel nonsense mutation in PAX9 is associated with sporadic hypodontia
Zhu, Junxia2; Yang, Xiang2; Zhang, Chenying1; Ge, Lihong2; Zheng, Shuguo1
刊名MUTAGENESIS
2012-05-01
DOI10.1093/mutage/ger080
27期:3页:313-317
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity ; Toxicology
研究领域[WOS]Genetics & Heredity ; Toxicology
关键词[WOS]AUTOSOMAL-DOMINANT HYPODONTIA ; TOOTH AGENESIS ; MOLAR OLIGODONTIA ; MISSENSE MUTATION ; PAIRED DOMAIN ; GENES ; TEETH ; MSX1 ; ORGANOGENESIS ; MORPHOGENESIS
英文摘要

The most important events during the regulation of tooth development were inductive interactions between the epithelial and mesenchymal tissues. The expression of Pax9 had been shown to specifically mark the mesenchymal regions at the prospective sites of all teeth prior to any morphological manifestations. Here, we investigated the PAX9 gene as a candidate gene for hypodontia in five unrelated Chinese patients with tooth agenesis. Direct sequencing and restriction enzyme analysis revealed a novel heterozygous mutation c.480C > G (p.160Tyr > X, Y160X) in a patient who was missing 20 permanent teeth (the third molars excluded) and 6 primary teeth. The mutation was a nonsense mutation, leading to a premature stop codon in exon 2 of PAX9 gene. PCR analysis of complementary DNA from cultured lymphocytes of the affected individual could not indicate the complete degradation of the mutated transcript. Promoter reporter assays revealed reduced transcriptional activity of the mutated PAX9 protein suggesting that the severe phenotype may result from haploinsufficiency of PAX9. In another patient with 15 missing permanent teeth (the third molars excluded), we found the c.219insG mutation previously reported by Stockton.

语种英语
WOS记录号WOS:000303163400008
项目编号7022022 ; 7092112 ; 81070815
资助机构Beijing Municipal Natural Science Foundation, People&prime ; s Republic of China ; National Natural Science Foundation, People&prime ; s Republic of China ; Youth Foundation of Medical Science Center, Peking University
引用统计
被引频次:9[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/51966
专题北京大学口腔医学院_口腔预防保健科
北京大学口腔医学院_儿童口腔科
作者单位1.Peking Univ, Sch & Hosp Stomatol, Dept Prevent Dent, Beijing 100081, Peoples R China
2.Peking Univ, Sch & Hosp Stomatol, Dept Pediat Dent, Beijing 100081, Peoples R China
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GB/T 7714
Zhu, Junxia,Yang, Xiang,Zhang, Chenying,et al. A novel nonsense mutation in PAX9 is associated with sporadic hypodontia[J]. MUTAGENESIS,2012,27(3):313-317.
APA Zhu, Junxia,Yang, Xiang,Zhang, Chenying,Ge, Lihong,&Zheng, Shuguo.(2012).A novel nonsense mutation in PAX9 is associated with sporadic hypodontia.MUTAGENESIS,27(3),313-317.
MLA Zhu, Junxia,et al."A novel nonsense mutation in PAX9 is associated with sporadic hypodontia".MUTAGENESIS 27.3(2012):313-317.
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