This Month in The Journal

Through its histone methyltransferase activity, the polycomb repressive complex 2 (PRC2) regulates trimethylation of lysine 27 of histone H3 (H3K27me3), a mark that drives chromatin condensation and transcriptional repression. This complex, required for genomic silencing, is composed of EZH2, EED, and SUZ12. Mutations in each of these genes can cause disorders characterized by overgrowth and intellectual disability. In recent years, many groups have identified distinct DNA methylation signatures in the blood of individuals with disorders caused by pathogenic variation in genes involved in epigenetic processes.

Source: The American Journal of Human Genetics - May 6, 2020 Category: Genetics & Stem Cells Authors: Sarah Ratzel, Sara B. Cullinan Tags: Editors' Corner Source Type: research