A study focuses on Setd2, a crucial enzyme in mouse embryonic development, particularly in histone modification H3K36me3. The research introduces a mouse model with a patient-derived Setd2 mutation, emphasizing the enzyme’s catalytic role and non-catalytic functions during development. The model exhibits similar defects to a complete knockout model, highlighting Setd2’s importance. RNA sequencing analysis reveals downregulation of specific genes in both models, suggesting shared molecular mechanisms. The study underscores the necessity of Setd2’s catalytic activity for normal development and offers insights into its potential therapeutic implications. Overall, the research enhances understanding of Setd2’s role in epigenetic regulation and its significance in development and disease.
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Setd2 catalytic activity is crucial for embryonic development in mice
