De novo GLI3 mutation in esophageal atresia: Reproducing the phenotypic spectrum of Gli3 defects in murine models

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	De novo GLI3 mutation in esophageal atresia: Reproducing the phenotypic spectrum of Gli3 defects in murine models
	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
	2014
卷号	1842 期号:9 页码:1755-1761
关键词	PALLISTER-HALL-SYNDROME TRACHEOESOPHAGEAL FISTULA MENTAL-RETARDATION COPY NUMBER GENE FEATURES CANCER MICRODELETION ASSOCIATION ANOMALIES
ISSN号	0925-4439
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
收录类别	SCI
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]
语种	英语
公开日期	2014-12-15
内容类型	期刊论文
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.