Topic: gene imprinting

Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by expansion mutation in the FMR1 gene, which leads to gene silencing via imprinting. Fmr1, located on the X chromosome, encodes the protein FMRP, a pivotal protein for neurogenesis in cortical development (Saffary and Xie, 2011; Casingal et al., 2020). Interestingly, female FXS premutation carriers, especially those with a paternal lineage of the premutation, exhibit an increased incidence of premature ovarian failure (Hundscheid et al., 2000). Despite these findings, the impact of FMRP absence on imprinting mechanisms in the br