Journal: Human Genetics and Genomics Advances
Article Title: A non-coding ABO regulatory variant associatedwith VWF levels, thrombosis risk, and COVID-19 severity is topologically linked to ADAMTS13 in endothelial cells
doi: 10.1016/j.xhgg.2025.100550
Figure Lengend Snippet: Chromatin interactions and regulatory landscape at the ABO and ADAMTS13 loci in endothelial cells (A) Hi-C data from HUVECs showing chromatin interactions within a segment of chromosome 9, encompassing the ABO and ADAMTS13 loci. Three loop boundaries (L1, L2, L3) are identified, indicating regions anchoring chromatin loops. (B) Detailed epigenomic landscape of the ABO and ADAMTS13 loci, corresponding to the region amplified in (C). Data from multiple assays are shown. RNA-seq data from HUVEC showing gene expression levels at the ABO and ADAMTS13 loci. ADAMTS13 is expressed in HUVECs, whereas ABO shows no detectable expression in this cell type. ChIA-PET (CTCF): identifies CTCF-binding at L1, L2, and L3, suggesting these sites demarcate loop boundaries. DNase-seq: reveals accessible chromatin regions aligning with the loop anchors. ChIP-seq for RAD21 (cohesin): confirms cohesin enrichment at L1, L2, and L3. ChIP-seq data for HBMECs identify CTCF binding sites, while DNase-seq reveals accessible chromatin regions at L1, L2, and L3. (C) Drawn chromatin interaction model of the ABO and ADAMTS13 loci based on epigenomic and chromatin conformation data integrating Hi-C, ChIA-PET, DNase-seq, and ChIP-seq data from HUVEC, created with BioRender.com .
Article Snippet: Quantitative PCR was conducted with TaqMan Fast Advanced Master Mix (Applied Biosystems, catalog no. 4444556) and TaqMan probes for ADAMTS13 (Applied Biosystems, catalog no. Hs00260148_m1) and glyceraldehyde 3-phosphate dehydrogenase (Applied Biosystems, catalog no. Hs02786624_g1).
Techniques: Hi-C, Amplification, RNA Sequencing, Gene Expression, Expressing, ChIA Pet Assay, Binding Assay, ChIP-sequencing