A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism
Rebecca Meyer‐Schuman, Fisher R. Cherry, Yang Sui, Athanasios Papastathopoulos-Katsaros, Yi Zhong, Yidan Li, Tianyun Wang, Kelsey M. Hennick, Druha Karunakaran, Hanna Berk-Rauch, Zhandong Liu, Aravinda Chakravarti, Tomasz Nowakowski, Evan E. Eichler, Huda Yahya Zoghbi
The paper identifies noncoding MECP2 variants that cause male-biased autism by disrupting CRE activity and reducing MECP2 expression.
The American Journal of Human Genetics · Oct 1, 2026Peer-reviewedGenetics