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学科主题口腔医学
Novel RUNX2 Mutations in Chinese Individuals with Cleidocranial Dysplasia
Zhang, C. Y.1,3; Zheng, S. G.1,3; Wang, Y. X.2,3; Zhu, J. X.1,3; Zhu, X.1,3; Zhao, Y. M.1,3; Ge, L. H.1,3
关键词cleidocranial dysplasia CCD mutation analysis RUNX2 transactivation
刊名JOURNAL OF DENTAL RESEARCH
2009-09-01
DOI10.1177/0022034509342083
88期:9页:861-866
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dentistry, Oral Surgery & Medicine
研究领域[WOS]Dentistry, Oral Surgery & Medicine
关键词[WOS]GENOTYPE-PHENOTYPE CORRELATIONS ; OSTEOBLAST DIFFERENTIATION ; FUNCTIONAL-ANALYSIS ; DNA-BINDING ; GENE ; CBFA1 ; PROTEIN ; PROMOTER ; PEBP2-ALPHA-A/CBFA1 ; ORGANIZATION
英文摘要

Cleidocranial dysplasia (CCD) is an inherited autosomal-dominant skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor, RUNX2. We performed mutation analysis of RUNX2 on four unrelated Chinese individuals with CCD. Three novel distinct mutations were detected in the coding region of RUNX2: two missense and one frameshift. These mutations were exclusively clustered within the Runt domain. One missense mutation converts threonine to isoleucine at codon 200 (T200I). The other one substitutes leucine for arginine at codon 225 (R225L), which affects many family members. The frameshift mutation (214fs) in exon3 leads to the introduction of a translational stop codon at codon 221, resulting in a truncated RUNX2 protein. The reporter gene assays revealed that all the mutants exhibited significantly reduced transactivation activities on the osteocalcin promoter. Our results provide new genetic evidence that mutations involved in RUNX2 contribute to CCD. Abbreviations: AML3, gene encoding acute myeloid leukemia protein 3; bp, base pair; CBFA1, gene encoding core-binding factor 1; CBF beta, gene encoding core-binding factor beta; CCD, cleidocranial dysplasia; NLS, nuclear localization signal; OSE2, osteoblast-specific cis-acting element 2; PEBP2A, gene encoding polyoma enhancer binding protein 2A; PST, proline/serine/threonine-rich domain; Q/A, glutamine-alanine repeat domain; Runt, Runt Homology Domain; RUNX2, the mammalian runt-related genes 2; RUNX2, Runt-related protein 2.

语种英语
WOS记录号WOS:000270194100014
项目编号7022022 ; 7092112
资助机构Beijing Municipal Natural Science Foundation
引用统计
被引频次:5[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/400002259/64042
专题北京大学口腔医学院_儿童口腔科
作者单位1.Peking Univ, Dept Pediat Dent, Sch Stomatol, Beijing 100081, Peoples R China
2.Peking Univ, Hosp Stomatol, Beijing 100081, Peoples R China
3.Peking Univ, Res Lab Oral & Maxillofacial Surg, Sch Stomatol, Beijing 100081, Peoples R China
推荐引用方式
GB/T 7714
Zhang, C. Y.,Zheng, S. G.,Wang, Y. X.,et al. Novel RUNX2 Mutations in Chinese Individuals with Cleidocranial Dysplasia[J]. JOURNAL OF DENTAL RESEARCH,2009,88(9):861-866.
APA Zhang, C. Y..,Zheng, S. G..,Wang, Y. X..,Zhu, J. X..,Zhu, X..,...&Ge, L. H..(2009).Novel RUNX2 Mutations in Chinese Individuals with Cleidocranial Dysplasia.JOURNAL OF DENTAL RESEARCH,88(9),861-866.
MLA Zhang, C. Y.,et al."Novel RUNX2 Mutations in Chinese Individuals with Cleidocranial Dysplasia".JOURNAL OF DENTAL RESEARCH 88.9(2009):861-866.
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