Kim Boua
Program: Neurosciences
Current advisor: Harrison W. Gabel, PhD
Undergraduate university: Duke University
Research summary
The goal of my project is to understand how loss of DNMT3A in the brain leads to behavioral and functional consequences that have been well characterized by our lab by several different patient-specific mouse models.
Mutations and subsequent loss of function in DNMT3A, a DNA methyltransferase DNMT3A leads to an overgrowth syndrome – Tatton Brown Rahman Syndrome (TBRS). Our lab is interested in understanding if rescue of this protein can amerliorate molecular and behavioral effects we’ve identified in our DNMT3A mutant mouse models. Using whole genome bisulfite sequencing to study methylation, RNAseq to understand gene expression, and spatial transcriptomics to localize these changes, we will use our models to understand to what degree rescue of DNMT3A can be achieved molecularly and behaviorally.
Graduate publications
Beard DC, Zhang X, Wu DY, Martin JR, Erickson A, Boua JV, Hamagami N, Swift RG, McCullough KB, Ge X, Bell-Hensley A, Zheng H, Palmer CW, Fuhler NA, Lawrence AB, Hill CA, Papouin T, Noguchi KK, McAlinden A, Garbow JR, Dougherty JD, Maloney SE, Gabel HW. 2023 Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits. Cell Rep, 42(11):113411.
Beard DC, Zhang X, Wu DY, Martin JR, Erickson A, Boua JV, Hamagami N, Swift RG, McCullough KB, Ge X, Bell-Hensley A, Zheng H, Palmer CW, Fuhler NA, Lawrence AB, Hill CA, Papouin T, Noguchi KK, McAlinden A, Garbow JR, Dougherty JD, Maloney SE, Gabel HW. 2023 Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits. Cell Rep, 42(11):113411.