NIH R01 · 2025
Epigenetic regulation of the neuroendocrine axis in brain development and behavior
PROJECT SUMMARY Lysine methyltransferase 5B (KMT5B) is part of a gene family that modulates the methylation state of histone 4 lysine 20 (H4K20) residues, and H4K20 methylation regulates gene expression by altering chromatin compaction. Heterozygous disruptive variants in KMT5B have been associated with human neurodevelopmental disease–specifically, KMT5B has been identified as one of the most mutated genes in autism spectrum disorder (ASD), a highly prevalent and lifelong condition. Phenotypes reported among KMT5B patients and in our Kmt5b mouse model suggest that KMT5B may have a role in the epigenetic expression of the insulin-like growth factor (IGF) family, which includes two…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.