Article
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell reports - 15 Mar 2022
Marcogliese Paul C, Deal Samantha L, Andrews Jonathan, Harnish J Michael, Bhavana V Hemanjani, Graves Hillary K, Jangam Sharayu, Luo Xi, Liu Ning, Bei Danqing, Chao Yu-Hsin, Hull Brooke, Lee Pei-Tseng, Pan Hongling, Bhadane Pradnya, Huang Mei-Chu, Longley Colleen M, Chao Hsiao-Tuan, Chung Hyung-Lok, Haelterman Nele A, Kanca Oguz, Manivannan Sathiya N, Rossetti Linda Z, German Ryan J, Gerard Amanda, Schwaibold Eva Maria Christina, Fehr Sarah, Guerrini Renzo, Vetro Annalisa, England Eleina, Murali Chaya N, Barakat Tahsin Stefan, van Dooren Marieke F, Wilke Martina, van Slegtenhorst Marjon, Lesca Gaetan, Sabatier Isabelle, Chatron Nicolas, Brownstein Catherine A, Madden Jill A, Agrawal Pankaj B, Keren Boris, Courtin Thomas, Perrin Laurence, Brugger Melanie, Roser Timo, Leiz Steffen, Mau-Them Frederic Tran, Delanne Julian, Sukarova-Angelovska Elena, Trajkova Slavica, Rosenhahn Erik, Strehlow Vincent, Platzer Konrad, Keller Roberto, Pavinato Lisa, Brusco Alfredo, Rosenfeld Jill A, Marom Ronit, Wangler Michael F, Yamamoto Shinya
Abstract excerpt
Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through "humanization" rescue and overexpression-based strategies....
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