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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 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.
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This hit rate is well above the reported hit rate (10%) of a genome-wide cardiac RNAi screen and comparable to the 53% of a targeted approach based on sequence information of CHD patients.
“This is well above the reported hit rate (10%) of a genome-wide cardiac RNAi screen [43] and is comparable to the 53% of a targeted approach based on sequence information of CHD patients [42].”
From A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease (2021) · cites this paper as [42]
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De novo mutations in histone-modifying genes in congenital heart disease
Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature · doi:10.1038/nature12141 · Cited by 934
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Research works printed but not linked: 35
- Ashley, 2015, The precision medicine initiative: a new national effort, JAMA, 313, 2119, 10.1001/jama.2015.3595 · DOI
- Bier, 2004, Drosophila, an emerging model for cardiac disease, Gene, 342, 1, 10.1016/j.gene.2004.07.018 · DOI
- Bier, 2005, Drosophila, the golden bug, emerges as a tool for human genetics, Nature Reviews Genetics, 6, 9, 10.1038/nrg1503 · DOI
- Brand, 1993, Targeted gene expression as a means of altering cell fates and generating dominant phenotypes, Development, 118, 401, 10.1242/dev.118.2.401 · DOI
- Cagan, 2011, The Drosophila nephrocyte, Current Opinion in Nephrology and Hypertension, 20, 409, 10.1097/MNH.0b013e328347ae02 · DOI
- Carroll, 2016, A mouse model for adult cardiac-specific gene deletion with CRISPR/Cas9, PNAS, 113, 338, 10.1073/pnas.1523918113 · DOI
- Chien, 2002, Homophila: human disease gene cognates in Drosophila, Nucleic Acids Research, 30, 149, 10.1093/nar/30.1.149 · DOI
- Delgado-Olguín, 2012, Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis, Nature Genetics, 44, 343, 10.1038/ng.1068 · DOI
- Diop, 2015, Gaining insights into diabetic cardiomyopathy from Drosophila, Trends in Endocrinology & Metabolism, 26, 618, 10.1016/j.tem.2015.09.009 · DOI
- Drechsler, 2013, The conserved ADAMTS-like protein lonely heart mediates matrix formation and cardiac tissue integrity, PLoS Genetics, 9, 10.1371/journal.pgen.1003616 · DOI
- Gelb, 2013, The congenital heart disease genetic network study: rationale, design, and early results, Circulation Research, 112, 698, 10.1161/CIRCRESAHA.111.300297 · DOI
- Han, 2005, Hand is a direct target of Tinman and GATA factors during Drosophila cardiogenesis and hematopoiesis, Development, 132, 3525, 10.1242/dev.01899 · DOI
- Han, 2006, Hand, an evolutionarily conserved bHLH transcription factor required for Drosophila cardiogenesis and hematopoiesis, Development, 133, 1175, 10.1242/dev.02285 · DOI
- He, 2012, Polycomb repressive complex 2 regulates normal development of the mouse heart, Circulation Research, 110, 406, 10.1161/CIRCRESAHA.111.252205 · DOI
- Hoffman, 2002, The incidence of congenital heart disease, Journal of the American College of Cardiology, 39, 1890, 10.1016/S0735-1097(02)01886-7 · DOI · Paper page
- Hoffman, 1990, Congenital heart disease: incidence and inheritance, Pediatric Clinics of North America, 37, 25, 10.1016/S0031-3955(16)36830-4 · DOI
- Hu, 2011, An integrative approach to ortholog prediction for disease-focused and other functional studies, BMC Bioinformatics, 12, 10.1186/1471-2105-12-357 · DOI · Paper page
- Kaneda, 2009, Genome-wide histone methylation profile for heart failure, Genes to Cells, 14, 69, 10.1111/j.1365-2443.2008.01252.x · DOI
- Livak, 2001, Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method, Methods, 25, 402, 10.1006/meth.2001.1262 · DOI · Paper page
- Long, 2016, Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy, Science, 351, 400, 10.1126/science.aad5725 · DOI
- Long, 2014, Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA, Science, 345, 1184, 10.1126/science.1254445 · DOI · Paper page
- Na, 2015, Diet-Induced podocyte dysfunction in Drosophila and mammals, Cell Reports, 12, 636, 10.1016/j.celrep.2015.06.056 · DOI
- Neely, 2010, A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function, Cell, 141, 142, 10.1016/j.cell.2010.02.023 · DOI · Paper page
- Ni, 2008, Vector and parameters for targeted transgenic RNA interference in Drosophila melanogaster, Nature Methods, 5, 49, 10.1038/nmeth1146 · DOI
- Ni, 2011, A genome-scale shRNA resource for transgenic RNAi in Drosophila, Nature Methods, 8, 405, 10.1038/nmeth.1592 · DOI
- Olson, 2006, Gene regulatory networks in the evolution and development of the heart, Science, 313, 1922, 10.1126/science.1132292 · DOI
- Owusu-Ansah, 2014, Modeling metabolic homeostasis and nutrient sensing in Drosophila: implications for aging and metabolic diseases, Disease Models & Mechanisms, 7, 343, 10.1242/dmm.012989 · DOI
- Reiter, 2001, A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster, Genome Research, 11, 1114, 10.1101/gr.169101 · DOI
- Reller, 2008, Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005, The Journal of Pediatrics, 153, 807, 10.1016/j.jpeds.2008.05.059 · DOI · Paper page
- Vogler, 2015, Cellular mechanisms of Drosophila heart morphogenesis, Journal of Cardiovascular Development and Disease, 2, 2, 10.3390/jcdd2010002 · DOI
- Wamstad, 2012, Dynamic and coordinated epigenetic regulation of developmental transitions in the cardiac lineage, Cell, 151, 206, 10.1016/j.cell.2012.07.035 · DOI
- Yi, 2006, The mevalonate pathway controls heart formation in Drosophila by isoprenylation of Ggamma1, Science, 313, 1301, 10.1126/science.1127704 · DOI
- Zhang, 2013, Cubilin and amnionless mediate protein reabsorption in Drosophila nephrocytes, Journal of the American Society of Nephrology, 24, 209, 10.1681/ASN.2012080795 · DOI
- Zhang, 2015, Histone methylations in heart development, congenital and adult heart diseases, Epigenomics, 7, 321, 10.2217/epi.14.60 · DOI
- Zhu, 2017, Validating Candidate Congenital Heart Disease Genes in Drosophila, BIO-PROTOCOL, 7, 10.21769/BioProtoc.2350 · DOI
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Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
Nim, H. T., Dang, L., Thiyagarajah, H., Bakopoulos, D., See, M., Charitakis, N., Sibbritt, T., Eichenlaub, M. P., Archer, S. K., Fossat, N., et al. (2021) · Genome Biology · doi:10.1186/s13059-021-02539-0 · Cited by 11
Metadata
- Authors
- Zhu, J.-Y., Fu, Y., Nettleton, M., Richman, A., & Han, Z.
- Venue
- eLife
- Publisher
- eLife Sciences Publications, Ltd
- Published
- 2017-01-20
- Volume
- 6
- ISSN
- 2050-084X
- PMC
- PMC5300701
- Cited by
- 53
- References
- 1
- Language
- en
- Licence
- Funders
- National Heart, Lung, and Blood Institute (NIH R01)
- National Institute of Diabetes and Digestive and Kidney Diseases (NIH R01)
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