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学科主题: 口腔医学
题名:
A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia
作者: Wong, Sing-Wai1; Liu, Hao-Chen1; Han, Dong1; Chang, Huai-Guang1; Zhao, Hong-Shan2,3; Wang, Yi-Xiang4; Feng, Hai-Lan1
刊名: MUTAGENESIS
发表日期: 2014-09-01
DOI: 10.1093/mutage/geu019
卷: 29, 期:5, 页:319-323
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]: SELECTIVE TOOTH AGENESIS ; MISSENSE MUTATION ; HYPODONTIA ; PAX9 ; AXIN2 ; GENE ; IDENTIFICATION ; POLYMORPHISMS ; METAANALYSIS ; FAMILY
英文摘要:

Oligodontia, which is the congenital absence of six or more permanent teeth, excluding the third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Msh homeobox 1 (MSX1) was the first gene identified as causing non-syndromic oligodontia. In this study, we identified a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in MSX1 in a Chinese family with autosomal dominant non-syndromic oligodontia. This novel mutation substitutes the stop codon with a tyrosine residue, potentially adding 48 amino acids to the C-terminus of MSX1. Further in vitro study found that mutant MSX1 could be expressed but had lost its ability to enter the nucleus. This is the first report indicating that a non-stop mutation in MSX1 is responsible for oligodontia. This study broadens the mutation spectrum for MSX1 and provides a new way to clarify the mechanism of MSX1 in tooth agenesis.

语种: 英语
所属项目编号: 81070814 ; 81271121 ; 81100725
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000344624100003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60212
Appears in Collections:北京大学口腔医学院_口腔修复科_期刊论文

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作者单位: 1.Peking Univ, Sch & Hosp Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China
2.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100191, Peoples R China
3.Peking Univ, Hlth Sci Ctr, Ctr Human Dis Genom, Beijing 100191, Peoples R China
4.Peking Univ, Cent Lab, Sch & Hosp Stomatol, Beijing 100081, Peoples R China

Recommended Citation:
Wong, Sing-Wai,Liu, Hao-Chen,Han, Dong,et al. A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia[J]. MUTAGENESIS,2014,29(5):319-323.
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