Fig. 5
ASSVs associate with ape-specific (ASPs) or great-ape-specific phenotypes (GASPs). a Heatmap illustrating the ADEs with high-confident ASSVs in eight brain regions. The nearest genes are indicated and the corresponding brain regions are indicated in red. The neurofunction-related genes are highlighted in red. ASSV deletions (circles) and insertions (triangles) are denoted. The circles/triangles in black and gray refer to high-confident ASSVs and candidate ASSVs, respectively. b Comparison of H3K27Ac signals of the ADE with an ASSV (587 bp deletion) in ITSN2 among human, chimpanzee, and macaque. The ADE exhibits significant signal difference between human/chimpanzee and macaque in five brain regions (*P < 0.05; **P < 0.01; ***P < 0.001; NS-not significant, P > 0.05). c A 587 bp deletion within intron-29 of ITSN2 disrupts a putative enhancer sequence in the great-ape lineage, with reduced enhancer activity in human and chimpanzee compared with rhesus macaque. The H3K27Ac signals in PFC and sequence alignments are shown. d ITSN2 exhibits significantly lower expression in chimpanzee and human compared with macaque with 16 neocortical layers (1S–16S) and the adjacent white matter (17 S) (left panel). PCR validation is shown (right panel). e A 477 bp deletion located in intron-10 of CDH8, a gene related to tail development. f A 178 bp ape lineage-specific deletion in intron-12 of NALCN, a gene associated with human fetal adducted thumbs. g A dot plot alignment highlights a 587 bp deletion (located in ITSN2) in apes compared with rhesus macaque and marmoset. h Summary of candidate ASSVs/GASSVs located in genes associated with ASPs (in red) or GASPs (in blue). A statistical assessment of the H3K27Ac signals and gene expression difference was conducted using two-tailed unpaired and paired t test, respectively. NS: not significant (P > 0.05) and ***P < 0.001
