ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.
Hongyu LuoLinjiang LaoKit Sing AuHope NorthrupXiao HeDiane ForgetMarie-Soleil GauthierBenoit CoulombeIsabelle BourdeauWei ShiLucia GagliardiMaria Candida Barisson Villares FragosoJunzheng PengJiangping WuPublished in: Genome biology (2024)
Mutations in ARMC5 increase the risk of NTDs in mice and humans. ARMC5 is part of an E3 controlling the degradation of all 12 subunits of Pol II under physiological conditions. The Pol II pool size might have effects on NTD pathogenesis, and some of the effects might be via the downregulation of FOLH1. Additional mechanistic work is needed to establish the causal effect of the findings on NTD pathogenesis.