Figure 2.

Local chromosome organization changes were detected in LCLs. (a) The coding genes overlapping with insulation score change (ISC) bins were chosen for functional enrichment analysis. Significant functional groups (FDR < 0.05) identified were cell adhesion, membrane components, glucuronidation, and N,N-dimethylaniline monooxygenase activity. (b) Local chromosome structural changes and gene expression changes in LCLs. Four differentially expressed genes/gene clusters showed changes in isolation scores, indicating local chromosome structural alterations may lead to expression changes in LCLs. (c) RAD21^R450C caused insulation score changes in PCDH gene clusters. Insulation score profile across the PCDH gene clusters. Both of these loci showed CTCF and RAD21 binding signals (indicated by red arrowheads) in GM12878 cells.