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Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome sequencing to 128 mostly consanguineous families with neurogenetic disorders that often included brain malformations. Rare variant analyses for both single nucleotide variant (SNV)...
Most human transcription factors bind a small subset of potential genomic sites and often use different subsets in different cell types. To identify mechanisms that govern cell-type-specific transcription factor binding, we used an integrative approach to study estrogen receptor α (ER). We found that ER exhibits two distinct modes of binding. Shared sites, bound in multiple cell types, are characterized...
Th17 cells have critical roles in mucosal defense and are major contributors to inflammatory disease. Their differentiation requires the nuclear hormone receptor RORγt working with multiple other essential transcription factors (TFs). We have used an iterative systems approach, combining genome-wide TF occupancy, expression profiling of TF mutants, and expression time series to delineate the Th17...
Botrytis cinerea is a necrotrophic fungal plant pathogen that can survive, grow and infect crops under cold stress. In an attempt to understand the molecular mechanisms leading to cold tolerance of this phytopathogen, we identified an enolase, BcEnol-1. BcEnol-1 encodes a 48 kDa protein that shows high identity to yeast, Arabidopsis and human enolases (72, 63 and 63%, respectively). Northern analysis...
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