High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.

ABSTRACT: Genomic sequencing has implicated large numbers of genes and de novo mutations as potential disease risk factors. A high throughput in vivo model system is needed to validate gene associations with pathology. We developed a Drosophila-based functional system to screen candidate disease genes identified from Congenital Heart Disease (CHD) patients. 134 genes were tested in the Drosophila heart using RNAi-based gene silencing. Quantitative analyses of multiple cardiac phenotypes demonstrated essential structural, functional, and developmental roles for more than 70 genes, including a subgroup encoding histone H3K4 modifying proteins. We also demonstrated the use of Drosophila to evaluate cardiac phenotypes resulting from specific, patient-derived alleles of candidate dis

SUBMITTER: Zhu JY 

PROVIDER: S-EPMC5300701 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature