De novo GLI3 mutation in esophageal atresia: Reproducing the phenotypic spectrum of Gli3 defects in murine models
文献类型：期刊论文
| 作者 | Yang, L ; Shen, C ; Mei, M ; Zhan, GD ; Zhao, YK ; Wang, HJ ; Huang, GY ; Qiu, ZL ; Lu, WN ; Zhou, WH |
| 刊名 | BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
 |
| 出版日期 | 2014 |
| 卷号 | 1842期号:9页码:1755-1761 |
| ISSN号 | 0925-4439 |
| 关键词 | PALLISTER-HALL-SYNDROME TRACHEOESOPHAGEAL FISTULA MENTAL-RETARDATION COPY NUMBER GENE FEATURES CANCER MICRODELETION ASSOCIATION ANOMALIES |
| 通讯作者 | Zhou, WH (reprint author), Fudan Univ, Childrens Hosp, Div Neonatol, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China.,zwhchfu@126.com |
| 英文摘要 | Esophageal atresia is a common and life-threatening birth defect with a poorly understood etiology. In this study, we analyzed the sequence variants of coding regions for a set of esophageal atresia-related genes including MYCN, SOX2, CHD7, GLI3, FGFR2 and PTEN for mutations using PCR-based target enrichment and next-generation sequencing in 27 patients with esophageal atresia. Genomic copy number variation analysis was performed using Affymetrix SNP 6.0. We found a de novo heterozygous mutation in the N-terminal region of the GLI3 gene (c.332 T > C, p.M111T) in a patient with esophageal atresia and hemivertebrae. The N-terminal region (amino acids 1-397) of GLI3 contains the repressor domain, which interacts with SKI family proteins. Using the co-immunoprecipitation assay, we found that interaction of GLI3 with the SKI family protein SKIL was significantly compromised by the p.M111T mutation of GIB. Thus far, all the identified mutations mapped within the repressor domain of GM were nonsense and frame-shift mutations. In this study, a missense mutation was initially detected in this region. Our finding is the first to link this GLI3 gene mutation with esophageal aliesia in humans, which was previously suggested in an animal model. (C) 2014 Elsevier B.V. All rights reserved. |
| 学科主题 | Biochemistry & Molecular Biology ; Biophysics ; Cell Biology |
| 资助信息 | Shanghai Municipal Commission of Health and Family Planning [2013-018]; Science and Technology Commission of Shanghai Municipality [11DZ1950302]; Fudan University [EYF156020] |
| 收录类别 | SCI |
| 语种 | 英语 |
| 公开日期 | 2014-12-15 |
| 源URL | [http://ir.sibs.ac.cn/handle/331001/2646]  |
| 专题 | 上海神经科学研究所_神经所(总) |
| 推荐引用方式 GB/T 7714 | Yang, L,Shen, C,Mei, M,et al. De novo GLI3 mutation in esophageal atresia: Reproducing the phenotypic spectrum of Gli3 defects in murine models[J]. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE,2014,1842(9):1755-1761. |
| APA | Yang, L.,Shen, C.,Mei, M.,Zhan, GD.,Zhao, YK.,...&Zhou, WH.(2014).De novo GLI3 mutation in esophageal atresia: Reproducing the phenotypic spectrum of Gli3 defects in murine models.BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE,1842(9),1755-1761. |
| MLA | Yang, L,et al."De novo GLI3 mutation in esophageal atresia: Reproducing the phenotypic spectrum of Gli3 defects in murine models".BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1842.9(2014):1755-1761. |
入库方式： OAI收割
来源：上海神经科学研究所
浏览0
下载0
收藏0
其他版本
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。