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学科主题: 口腔医学
题名:
A novel nonsense mutation in PAX9 is associated with sporadic hypodontia
作者: Zhu, Junxia2; Yang, Xiang2; Zhang, Chenying1; Ge, Lihong2; Zheng, Shuguo1
刊名: MUTAGENESIS
发表日期: 2012-05-01
DOI: 10.1093/mutage/ger080
卷: 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
所属项目编号: 7022022 ; 7092112 ; 81070815
项目资助者: 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
WOS记录号: WOS:000303163400008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51966
Appears in Collections:北京大学口腔医学院_口腔预防保健科_期刊论文

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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

Recommended Citation:
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.
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