Article
Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.
Genome research - 1 Apr 2020
Enikanolaiye Adebola, Ruston Julie, Zeng Rong, Taylor Christine, Schrock Marijke, Buchovecky Christie M, Shendure Jay, Acar Elif, Justice Monica J
Abstract excerpt
Mutations in X-linked methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT). To identify functional pathways that could inform therapeutic entry points, we carried out a genetic screen for secondary mutations that improved phenotypes in Mecp2/Y mice after mutagenesis with N-ethyl-N-nitrosourea (ENU). Here, we report the isolation of 106 founder animals that show suppression of Mecp2-null traits from...
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