A cohesin cancer mutation reveals a role for the hinge domain in genome organization and gene expression [Hi-C]

Purpose: Chromatin loop formation and maintenance is regulated by the cohesin complex. Here, we investigate whether a cancer mutation to a cohesin complex subunit, SMC1A-R586W, alters genome architecture. Method: Genome wide chromatin looping patterns were assessed via Hi-C in both wildtype and CRISPR-Cas9 genome edited SMC1A-R586W mouse embryonic stem cells (mESCs). Overall design: Hi-C was performed in wild type and SMC1A-R586W mESCs. Two replicates from wildtype cells were collected, and one replicate each of two SMC1A-R586W mES clones were collected.