Join us for a webinar "Epigenetic Analyses of Human Left Atrial Tissue Identifies Gene Networks
Underlying Atrial Fibrillation" on January 28, 2020 at 11AM EST
to learn from Dr. Amelia Hall, PhD, Research Fellow at the Broad Institute.
Atrial fibrillation (AF) often arises from structural abnormalities in the left atria (LA). Annotation of the
noncoding genome in human LA is limited, as are effects on gene expression and chromatin architecture. Many
AF-associated genetic variants reside in noncoding regions; this knowledge gap impairs efforts to understand
the molecular mechanisms of AF and cardiac conduction phenotypes.
We generated a model of the LA noncoding genome by profiling 7 histone post-translational
(active: H3K4me3, H3K4me2, H3K4me1, H3K27ac, H3K36me3; repressive: H3K27me3, H3K9me3), CTCF binding, and
gene expression in samples from 5 individuals without structural heart disease or AF. Our model identified
21 epigenetic states, encompassing regulatory motifs, such as promoters, enhancers, and repressed regions.
We identified over 15 000 LA-specific enhancers, defined by homeobox family motifs, and annotated several
cardiovascular disease susceptibility loci. Intersecting AF and PR genome-wide association studies loci with
long-range chromatin conformation data identified a gene interaction network dominated by NKX2-5, TBX3,
Amelia Weber Hall is a computational biology Research Fellow in Medical and Population Genetics,
member of the Ellinor Lab. She performs functional genomics experiments at the bench, in addition to data
analysis for a number of projects. Her work focuses on understanding the mechanisms of phenotype variation
originating from the non-coding genome.
Prior to joining the Broad Institute and Massachusetts General Hospital in 2017, Hall was first a
research technician, and then a graduate student at the University of Texas at Austin. Her work as a
technician focused on incorporating non-natural amino acids into the calcium signaling protein calmodulin.
As a graduate student, her research centered on building models of chromatin and transcription in primary
glioblastoma samples. Hall holds a Ph.D. in microbiology from the University of Texas at Austin, and a B.S.
in molecular genetics from the University of Rochester.