Structural differences of orthologous genes: Insights from human–primate comparisons

The genomic basis of phenotypic distinctions between humans and nonhuman primates remains insufficiently explained. We hypothesized that interspecies structural differences of orthologous genes can cause such distinctions and searched protein-coding genes conserved between humans and nonhuman primates for species-specific initial and terminal exons. We inferred gene structure differences from genomic locations where portions of primate transcripts aligned with the human genome outside of any human exons. Of 22,466 high-confidence FANTOM3 human transcriptional units, 7424 (33%) had nonhuman primate full-length cDNA support. One hundred eighty-three of the loci contained 68,424 bp of sequence exonic in nonhuman primates but not humans. Fifty-four of 183 included species-specific portions of protein-coding regions. Six genes had evidence of intergenic splicing in a nonhuman primate but not in human. It is imperative that primate transcriptome projects be accelerated on par with genome projects to understand better interspecies gene structure distinctions.