Fig. 4. hCONDEL at LOXL2 induces transcriptomic changes related to myelination and calcium signaling.
(A) Genome track of hCONDEL position in LOXL2, including H3K27ac and DNase I hypersensitive site signals from SK-N-SH and conservation scores. (B) Sequence alignment at hCONDEL with perturbed TF motif (top) and deleted conserved base (red). (C) MPRA result for LOXL2-associated hCONDEL (skew and BH adjusted P). Error bars indicate SD of chimpanzee/human activity. (D) UMAP of SK-N-SH–edited cells, with species genotype labeling for human (yellow) or chimpanzee reference (blue). (E) LOXL2 expression of SK-N-SH cells bearing the chimpanzee versus human base (Wilcoxon rank-sum test P value).(F) Volcano plot for most differentially expressed genes comparing SK-N-SH cells bearing the chimpanzee versus human sequence (genes with BH adjusted P < 0.1 highlighted in green). (G) Highlighted GO enrichments of differentially expressed genes from (F).