NIH R01 · 2024
Multi-scale consequences of variants in the schizophrenia risk gene SETD1A in a population isolate.
Project Summary. Rare variants with large effects provide excellent opportunities to characterize causal mechanisms for complex disorders. Recently, large-scale exome sequencing of schizophrenia found that rare protein-truncating and missense variants in SET Domain Containing 1A (SETD1A) are associated with approximately 4- to 20-fold increased risk for schizophrenia, making this the top risk gene (P = 2.0e-12) among about ten genes with strong support. SETD1A encodes a chromatin modifying enzyme responsible for tri-methylation of lysine 4 on the histone 3 tail (H3K4me3), an important histone modification at active promoters. Characterizing the effects of SETD1A variants has emerged as one…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.