NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.

ABSTRACT:

Aims

Cardiac structural genes have been implicated as causative factors for congenital heart diseases (CHDs). NEXN is an F-actin binding protein and previously identified as a disease gene causing cardiomyopathies. Whether NEXN contributes to CHDs aetiologically remains unknown. Here, we explored the function of NEXN in cardiac development.

Methods and results

First, we determine the role of NEXN in cardiac differentiation using mouse P19cl6 in vitro model; we demonstrated that NEXN inhibited cardiac contractile markers, serving as a negative regulator. Interestingly, we found this effect was mediated by GATA4, a crucial transcription factor that controls cardiac development by knockdown, overexpression, and rescue experiment, respectively. We then generated transgenic mouse

SUBMITTER: Yang F 

PROVIDER: S-EPMC4498134 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature