Fig. 5: Analysis of 3D chromatin interactions identify a LMNB1 regulatory element.
From: An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants
a Micro-C chromatin interaction map27 (hg38) from human Embryonic Stem Cells (hESC) reveals distinct long-range interactions between the LMNB1 promoter and upstream elements (dashed lines, oval). This 19 kb region (red bar) wholly overlaps ADLD Crit 1 and partially with ADLD Crit 2. The transcriptionally associated domain (TAD) containing LMNB1 is also depicted. b PLAC-Seq maps from human OLs30 confirm the interaction between the LMNB1 promoter and the 19 kb putative regulatory element. c ATAC seq data of human OLs30 identifies regions of open chromatin in the 19 kb region. d ChIP Seq data of human OLs30 reveals no enrichment of H3K27Ac in this region. Black bars above traces represent called peaks in both cases. e Single cell Hi-C data from human OLs31 reveals a similar interaction (oval) between LMNB1 promoter (arrow) and the 19 kb element (bar) as seen in (a). f The interaction (oval) between LMNB1 promoter (arrow) and the 19 kb regulatory element (bar) is recapitulated using the Orca simulation based on sequence data. Boxed region is the genomic segment depicted in (a). All coordinates are from the hg38 human genome build.
