Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs.

ABSTRACT: Transcription factors (TFs) regulate gene expression by facilitating or disrupting the formation of transcription initiation machinery at particular genomic loci. Because TF occupancy is driven in part by recognition of DNA sequence, genetic variation can influence TF-DNA associations and gene regulation. To identify variants that impact TF binding in human brain tissues, we assessed allele-specific binding (ASB) at heterozygous variants for 94 TFs in nine brain regions from two donors. Leveraging graph genomes constructed from phased genomic sequence data, we compared ChIP-seq signals between alleles at heterozygous variants within each brain region and identified thousands of variants exhibiting ASB for at least one TF. ASB reproducibility was measured by comparisons between independent

SUBMITTER: Anderson AG 

PROVIDER: S-EPMC11444172 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature