生物
增强子
转录因子
基因
免疫印迹
TBX1型
报告基因
突变体
荧光素酶
心脏发育
发起人
遗传学
基因表达
分子生物学
细胞生物学
转染
胚胎干细胞
作者
Wei Wei,Bojian Li,Fen Li,Sun Kim,Xuechao Jiang,Rang Xu
出处
期刊:Genomics
[Elsevier]
日期:2024-05-01
卷期号:116 (3): 110840-110840
标识
DOI:10.1016/j.ygeno.2024.110840
摘要
Conotruncal heart defects (CTD), subtypes of congenital heart disease, result from abnormal cardiac outflow tract development (OFT). FOXC1 and FOXC2 are closely related members of the forkhead transcription factor family and play essential roles in the development of OFT. We confirmed their expression pattern in mouse and human embryos, identifying four variants in FOXC1 and three in FOXC2 by screening these two genes in 605 patients with sporadic CTD. Western blot demonstrated expression levels, while Dual-luciferase reporter assay revealed affected transcriptional abilities for TBX1 enhancer in two FOXC1 variants and three FOXC2 variants. This might result from the altered DNA-binding abilities of mutant proteins. These results indicate that functionally impaired FOXC1 and FOXC2 variants may contribute to the occurrence of CTD.
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