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Functional analysis of two novel mutations in TWIST1 protein motifs found in ventricular septal defect patients
DENG Xiaopeng 1,WANG Binbin 2,WANG Jing 2,PAN Hong 2,CHENG Zhi 2,CHENG Longfei 2,ZHAO Lixi 2,LI Hui 3 *,MA Xu 4
1.Departmen t of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang 110004
2.Graduate school, Peking Union Medical College, Beijing, China;National Research Institute for Family Planning, Beijing, 100081 China
3.Departmen t of Obstetrics and Gynecology, Shengjing Hospital of China Medical University,Shenyang 110004, China
4.Graduate school, Peking Union Medical College, Beijing, China;National Research Institute for Family Planning, Beijing, 100081 China;World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing, China
*Correspondence author
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Funding: 教育部高等学校博士学科点专项科研基金(No.20092104110011), 辽宁省科学技术计划(No.2011225017)
Opened online:11 March 2013
Accepted by: none
Citation: DENG Xiaopeng,WANG Binbin,WANG Jing.Functional analysis of two novel mutations in TWIST1 protein motifs found in ventricular septal defect patients[OL]. [11 March 2013] http://en.paper.edu.cn/en_releasepaper/content/4526423
 
 
Aims: To investigate the possible genetic effect of sequence variations in TWIST1 on the pathogenesis of ventricular septal defect in humans. Methods: We examined the coding region of TWIST1 in a cohort of 196 Chinese people with non-syndromic ventricular septal defect patients and 200 healthy individuals as the controls.Results: We identified two novel potential disease-associated mutations, NM_000474.3:c.247G>A (p.Gly83Ser) and NM_000474.3:c.283A>G (p. Ser95Gly). Both of them were identified for the first time and were not observed in the 200 controls without congenital heart disease. Using a dual-luciferase reporter assay, we showed that both of the mutations significantly down-regulated the repressive effect of TWIST1 on the E-cadherin promoter. Furthermore, a mammalian two-hybrid assay showed that both of the mutations significantly affected the interaction between TWIST1 and KAT2B. Conclusions: New mutations in the transcription factor TWIST1 that affect protein function were identified in 1.0% (2/196) of Chinese patients with ventricular septal defect. Our data show, for the first time, that TWIST1 has a potential causative effect on the development of ventricular septal defect.
Keywords: TWIST1; ventricular septal defect; variant; genetics
 
 
 

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