Functional analysis of the congenital heart disease‑associated GATA4 H436Y mutation in vitro.

ABSTRACT: Congenital heart disease (CHD) is the most common type of developmental defect, with high rates of morbidity in infants. The transcription factor GATA‑binding factor 4 (GATA4) has been reported to serve a critical role in embryogenesis and cardiac development. Our previous study reported a heterozygous GATA4 c.1306C>T (p.H436Y) mutation in four Chinese infants with congenital heart defects. In the present study, functional analysis of the GATA4 H436Y mutation was performed in vitro. The functional effect of GATA4 mutation was compared with GATA4 wild‑type using a dual‑luciferase reporter assay system and immunofluorescence. Electrophoretic mobility‑shift assays were performed to explore the binding affinity of the mutated GATA4 to the heart and neural crest derivatives expressed 2 (HAND2)

SUBMITTER: Fang T 

PROVIDER: S-EPMC6691264 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature