IR@PKUHSC  > 北京大学口腔医学院  > 科研处
学科主题口腔医学
Identification and Functional Analysis of Two Novel PAX9 Mutations
Wang, Ying2; Wu, Hua1; Wu, Jingfeng2; Zhao, Hongshan3,4; Zhang, Xiaoxia1; Mues, Gabriele2; D′ Souza, Rena N.2; Feng, Hailan1; Kapadia, Hitesh2
关键词Oligodontia Tooth agenesis PAX9 Bmp4 Missense mutation
刊名CELLS TISSUES ORGANS
2009
DOI10.1159/000151448
189期:1-4页:80-87
收录类别SCI ; ISTP
文章类型Proceedings Paper
WOS标题词Science & Technology
类目[WOS]Anatomy & Morphology ; Cell Biology ; Developmental Biology
研究领域[WOS]Anatomy & Morphology ; Cell Biology ; Developmental Biology
关键词[WOS]AUTOSOMAL-DOMINANT HYPODONTIA ; MOLAR OLIGODONTIA ; MISSENSE MUTATION ; TOOTH AGENESIS ; NONSENSE MUTATION ; GENE ; FAMILY ; HUMANS ; FORM
英文摘要

The paired-domain transcription factor PAX9 plays a critical role in tooth development, as heterozygous mutations in PAX9 have been shown to be associated with human tooth agenesis. In this study, we report 2 novel missense mutations, gly6arg (G6R) and ser43lys (S43K), in the paired domain of PAX9 in Chinese patients with varying degrees of nonsyndromic tooth agenesis. Excluding third molars, the individual with the G6R mutation was missing 2 mandibular incisors and a maxillary premolar, while the phenotype of individuals with the S43K mutation consisted of peg-shaped upper lateral incisors and missing molars, premolars and canines. As these 2 mutations occur at highly conserved amino acids in the PAX gene family and between different species, we further analyzed the effects of the mutations on the function of the resulting proteins. Immunofluorescence and immunoblotting studies showed that the mutations did not alter nuclear localization in mammalian cells. Gel shift and super shift assays indicate that both mutant proteins bound DNA at a lower level than the normal protein, with G6R having a greater affinity for DNA than S43K. Likewise, the G6R protein was able to transcriptionally activate a Bmp4 promoter construct to a greater extent than S43K. Our finding that the severity of tooth agenesis in the patients was correlated to the DNA-binding capacity of the mutated PAX9 9proteins supports the hypothesis that DNA binding is responsible for the genetic defect. Copyright (C) 2008 S. Karger AG, Basel

语种英语
WOS记录号WOS:000261772000015
引用统计
被引频次:22[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/400002259/64600
专题北京大学口腔医学院_科研处
北京大学基础医学院
北京大学口腔医学院_口腔修复科
作者单位1.Peking Univ, Dept Prosthodont, Sch & Hosp Stomatol, Beijing 100081, Peoples R China
2.Texas A&M Univ Syst, Hlth Sci Ctr, Baylor Coll Dent, Dept Biomed Sci, Dallas, TX USA
3.Peking Univ, Sch Basic Med, Dept Immunol, Beijing 100081, Peoples R China
4.Peking Univ, Human Dis Genom Ctr, Beijing 100081, Peoples R China
推荐引用方式
GB/T 7714
Wang, Ying,Wu, Hua,Wu, Jingfeng,et al. Identification and Functional Analysis of Two Novel PAX9 Mutations[J]. CELLS TISSUES ORGANS,2009,189(1-4):80-87.
APA Wang, Ying.,Wu, Hua.,Wu, Jingfeng.,Zhao, Hongshan.,Zhang, Xiaoxia.,...&Kapadia, Hitesh.(2009).Identification and Functional Analysis of Two Novel PAX9 Mutations.CELLS TISSUES ORGANS,189(1-4),80-87.
MLA Wang, Ying,et al."Identification and Functional Analysis of Two Novel PAX9 Mutations".CELLS TISSUES ORGANS 189.1-4(2009):80-87.
条目包含的文件
文件名称/大小 文献类型 版本类型 开放类型 使用许可
Identification and F(564KB)期刊论文出版稿开放获取CC BY-NC-SA浏览 请求全文
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Wang, Ying]的文章
[Wu, Hua]的文章
[Wu, Jingfeng]的文章
百度学术
百度学术中相似的文章
[Wang, Ying]的文章
[Wu, Hua]的文章
[Wu, Jingfeng]的文章
必应学术
必应学术中相似的文章
[Wang, Ying]的文章
[Wu, Hua]的文章
[Wu, Jingfeng]的文章
相关权益政策
暂无数据
收藏/分享
文件名: Identification and Functional Analysis of Two Novel PAX9 Mutations.pdf
格式: Adobe PDF
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。