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Publication: Nishizaki et al., 2025 - m⁶A-mRNA Reader YTHDF2 Identified as a Potential Risk Gene in Autism With Disproportionate Megalencephaly
All Figures: Figures for Nishizaki et al., 2025

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FIGURE 5

A potential role for YTHDF2 in ASD‐DM. Proposed model of YTHDF2 loss‐ or gain‐of‐function phenotypes, with respect to FXS protein FMRP. We hypothesize YTHDF2 loss‐of‐function would lead to microcephaly due to increased FMRP binding and lack of m⁶‐mRNA degradation, extended cell cycle progression, and reduced neurogenesis. As the gene is highly conserved and knockout models are embryonic lethal, likely loss‐of‐function mutations in humans lead to disease pathogenicity or are incompatible with life. Inversely, YTHDF2 duplication would lead to megalencephaly following increased m⁶A‐mRNA degradation as YTHDF2 outcompetes FMRP, neural progenitor cell (NPC) overabundance, and increased neurogenesis.

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