Table 2.
Exons with human-specific changes in transcript inclusion levels compared with chimpanzee and rhesus cerebellums
| Gene symbol | Exon location (hg18) | Phylogenetic patterns of exon inclusion levels | Impact on mRNA/protein | Gene function |
|---|---|---|---|---|
| MAGOH | chr1:53471801-53471912 | Human (medium-major) ≪ chimpanzee (constitutive)/rhesus (constitutive) | Coding | RNA and protein binding, NMD |
| PIGX | chr3:197937922-197938039 | Human (minor-medium) ≫ chimpanzee (no inclusion)/rhesus (no inclusion) | Coding, exon inclusion introduces premature termination codon | Component of glycosylphosphatidylinositol-mannosyltransferase I |
| ZDHHC13/HIP14L | chr11:19121105-19121246 | Human (medium) ≪ chimpanzee (almost constitutive)/rhesus (almost constitutive) | Coding, exon 2 skipping causes usage of a downstream ATG start site on exon 5 | Palmitoyl transferase, Mg2+ transport |
| LPHN3/CIRL3 | chr4:62461031-62461070 | Human (medium) ≪ chimpanzee (major)/rhesus (major) | Coding | G-protein coupled receptor, cell adhesion and signal transduction |
| NUPL1 | chr13:24781384-24781420 | Human (major-constitutive) ≫ chimpanzee (medium)/rhesus (medium-major) | Coding | Component of the nuclear pore complex (NPC); nucleocytoplasmic transporter activity |
| DDX42 | chr17:59206199-59206270 | Human (minor-medium) > chimpanzee (minor) > rhesus (no inclusion) | 5′-UTR | ATP-dependent helicase activity, protein displacement and RNA annealing |
| CAMTA1 | chr1:7738284-7738315 | Human (minor-medium) < chimpanzee (medium) < rhesus (medium-major) | Coding, alternative C-terminus | Calmodulin binding, transcription regulator |
| GSTM3 | chr1:110083977-110084053 | Human (major) < chimpanzee (constitutive)/rhesus (constitutive) | Coding, alternative N-terminus | Glutathione S-transferase |
| ACSL3 | chr2:223473635-223473742 | Human (medium) > chimpanzee (minor)/rhesus (minor) | 5′-UTR | Acetate–CoA ligase |
| GLS | chr2:191527725-191527789 | Human (major) < chimpanzee (major)/rhesus (major) (differences confirmed by FAM-labeled RT–PCR) | Coding, alternative C-terminus | Glutaminase, glutamine catabolic process |
| PTPRZ1 | chr7:121474963-121475080 | Human (minor) > chimpanzee (no inclusion)/rhesus (no inclusion) | Coding | Transmembrane receptor protein tyrosine phosphatase |
| KCNJ3/GIRK1 | chr2:155274360-155274577 | Human (medium) < chimpanzee (medium-major)/rhesus (major) | Coding, truncated protein | G-protein activated inward-rectifier type potassium channel |
| NAV2 | chr11:19862415-19862484 | Human (medium) > chimpanzee (minor-medium)/rhesus (minor-medium) | Coding | ATP-binding helicase |