Article
Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.
Nature communications - 29 Jun 2018
Iyer Janani, Singh Mayanglambam Dhruba, Jensen Matthew, Patel Payal, Pizzo Lucilla, Huber Emily, Koerselman Haley, Weiner Alexis T, Lepanto Paola, Vadodaria Komal, Kubina Alexis, Wang Qingyu, Talbert Abigail, Yennawar Sneha, Badano Jose, Manak J Robert, Rolls Melissa M, Krishnan Arjun, Girirajan Santhosh
Abstract excerpt
As opposed to syndromic CNVs caused by single genes, extensive phenotypic heterogeneity in variably-expressive CNVs complicates disease gene discovery and functional evaluation. Here, we propose a complex interaction model for pathogenicity of the autism-associated 16p11.2 deletion, where CNV genes interact with each other in conserved pathways to modulate expression of the phenotype. Using multiple quantitative...
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