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. 2017 Jul 5;207(1):139–151. doi: 10.1534/genetics.117.202291

Figure 4.

Figure 4

Deregulated genes in CdLS are within reach of NIPBL- and cohesin-occupied regions. (A) Distribution of CdLS-deregulated genes within connected gene communities. Genes deregulated in NIPBL-mutated LCLs are found in 504 connected gene communities (185 multigene). Genes deregulated in SMC1A-mutated cells are found in 423 connected gene communities (106 multigene). (B) Genes deregulated in CdLS are connected to NIPBL- and SMC1A-occupied nodes. Graphical representation of the proportion of CdLS-deregulated genes as a function of the distance from a NIPBL- or SMC1A-occupied node. A distance of 0 corresponds to the gene locus deregulated in CdLS being directly occupied by NIPBL or SMC1A ± 1 kb from the TSS. A distance of 1, 2, or 3 corresponds to the number of steps from the occupied node. CdLS, Cornelia de Lange syndrome; LCLs, lymphoblastoid cell lines; TSS, transcription start site.