title: The expression profile analysis of NKX2-5 knock-out embryonic mice to explore the pathogenesis of congenital heart disease.
abstract: BACKGROUND
  Mutation of NKX2-5 could lead to the development of congenital heart disease (CHD) which is a common inherited disease. This study aimed to investigate the pathogenesis of CHD in NKX2-5 knock-out embryonic mice.
  
  
  METHODS
  The expression profile in the NKX2-5 knock-out embryonic mice (GSE528) was downloaded from Gene Expression Omnibus. The heart tissues from the null/heterozygous embryonic day 12.5 mice were compared with wild-type mice to identify differentially expressed genes (DEGs), and then DEGs corresponding to the transcriptional factors were filtered out based on the information in the TRANSFAC database. In addition, a transcriptional regulatory network was constructed according to transcription factor binding site information from the University of California Santa Cruz database. A pathway interaction network was constructed by latent pathways identification analysis.
  
  
  RESULTS
  The 42 DEGs corresponding to transcriptional factors from the null and heterozygous embryos were identified. The transcriptional regulatory networks included five down-regulated DEGs (SP1, SRY, JUND, STAT6, and GATA6), and six up-regulated DEGs [POU2F1, NFY (NFYA/NFYB/NFYC), USF2 and MAX]. Latent pathways analysis demonstrated that ribosome, glycolysis/gluconeogenesis, and dilated cardiomyopathy pathways significantly interacted.
  
  
  CONCLUSIONS
  The identified DEGs and latent pathways could provide new comprehensive view for understanding the pathogenesis of CHD.
authors.affiliation: Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai 201102, China; Shanghai Key Laboratory of Birth Defect, Shanghai 201102, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.affiliation: Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Yinyin
authors.initials: Y
authors.lastname: Cao
authors.affiliation: Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Weicheng
authors.initials: W
authors.lastname: Chen
authors.affiliation: Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yuan
authors.affiliation: Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai 201102, China; Shanghai Key Laboratory of Birth Defect, Shanghai 201102, China. Electronic address: xiaojingma021@163.com.
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Ma
authors.affiliation: Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai 201102, China; Shanghai Key Laboratory of Birth Defect, Shanghai 201102, China. Electronic address: gyhuang@shmu.edu.cn.
authors.forename: Guoying
authors.initials: G
authors.lastname: Huang
mesh_terms: D000818:Animals; D015536:Down-Regulation; D015870:Gene Expression; D020869:Gene Expression Profiling; D053263:Gene Regulatory Networks / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; D051379:Mice; D018345:Mice, Knockout; D014157:Transcription Factors / Q000378:metabolism*; D015854:Up-Regulation
chemical_list: D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C484469:Nkx2-5 protein, mouse; D014157:Transcription Factors
keywords: Congenital heart disease; Differentially expressed genes; Embryonic mice; Latent pathways; Regulation factors