Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila
Eric Chen, Jessica Schmitt, Graeme McIntosh, Barry P. Young, Tianshun Lian, Jie Liu, Kexin K Chen, J Beatrice Liston, Lily MacDonald, Bill Wang, Sònia Medina Giró, Benjamin Boehme, Mriga Das, Seevasant Indran, Jesse T. Chao, , Christopher J. R. Loewen
The paper assesses nine MECP2 variants in ASD using yeast and Drosophila assays, finding four as loss of function and five as functional, highlighting non-methyl DNA-binding roles.
Genetics · Jun 23, 2025Peer-reviewedNeuroscience