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Citation
Zhu, J.Y., Fu, Y., Nettleton, M., Richman, A., Han, Z. (2017). High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.  eLife 6(): e22617.
FlyBase ID
FBrf0234793
Publication Type
Research paper
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 disease genes. We describe the first high throughput in vivo validation system to screen candidate disease genes identified from patients. This approach has the potential to facilitate development of precision medicine approaches for CHD and other diseases associated with genetic factors.

PubMed ID
PubMed Central ID
PMC5300701 (PMC) (EuropePMC)
Related Publication(s)
Research paper

Validating Candidate Congenital Heart Disease Genes in Drosophila.
Zhu et al., 2017, Bio Protoc. 7(12): e2350 [FBrf0237492]

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Secondary IDs
    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    eLife
    Title
    eLife
    ISBN/ISSN
    2050-084X
    Data From Reference
    Alleles (48)
    Genes (29)
    Human Disease Models (5)
    Natural transposons (1)
    Experimental Tools (2)
    Transgenic Constructs (48)