Document Type
Journal Article
Publication Date
6-20-2017
Journal
Bio Protocol
Volume
7
Issue
12
DOI
10.21769/BioProtoc.2350
Abstract
Genomic sequencing efforts can implicate large numbers of genes and de novo mutations as potential disease risk factors. A high throughput in vivo model system to validate candidate gene association with pathology is therefore useful. We present such a system employing Drosophila to validate candidate congenital heart disease (CHD) genes. The protocols exploit comprehensive libraries of UAS-GeneX-RNAi fly strains that when crossed into a 4×Hand-Gal4 genetic background afford highly efficient cardiac-specific knockdown of endogenous fly orthologs of human genes. A panel of quantitative assays evaluates phenotypic severity across multiple cardiac parameters. These include developmental lethality, larva and adult heart morphology, and adult longevity. These protocols were recently used to evaluate more than 100 candidate CHD genes implicated by patient whole-exome sequencing (Zhu et al., 2017).
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
APA Citation
Zhu, J., Fu, Y., Richman, A., & Han, Z. (2017). Validating Candidate Congenital Heart Disease Genes in Drosophila.. Bio Protocol, 7 (12). http://dx.doi.org/10.21769/BioProtoc.2350
Peer Reviewed
1
Open Access
1
Included in
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Genetics and Genomics Commons, Pediatrics Commons
Comments
This is the author's accepted manuscript version.