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学科主题: 口腔医学
题名:
Novel RUNX2 Mutations in Chinese Individuals with Cleidocranial Dysplasia
作者: 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
发表日期: 2009-09-01
DOI: 10.1177/0022034509342083
卷: 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
所属项目编号: 7022022 ; 7092112
项目资助者: Beijing Municipal Natural Science Foundation
WOS记录号: WOS:000270194100014
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64042
Appears in Collections:北京大学口腔医学院_儿童口腔科_期刊论文

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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

Recommended Citation:
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.
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