Mutations in genes that regulate DNA methylation (mC) and its oxidized form hydroxymethyation (hmC) are commonly found in various neurodevelopmental disorders such as Rett syndrome, Tatton-Brown-Rahman Syndrome, and Beck-Fahrner Syndrome. We are developing new computational and single-cell approaches to understand how mC and hmC regulated neuronal subtype gene expression programs, and how this changes in disease.
Schlosberg CE, Wu DY, Gabel HW, Edwards JR. ME-Class2 reveals context dependent regulatory roles for 5-hydroxymethylcytosine. Nucleic Acids Res. 2019 Mar 18;47(5):e28. doi: 10.1093/nar/gkz001. PubMed PMID: 30649543; PubMed Central PMCID: PMC6412249.