Comparative Genomics Search for Losses of Long-Established Genes on the Human Lineage
Figure 2
A Nonsense Mutation Inactivated ACYL3 During Great Ape Evolution
It occurred after the divergence of gorillas from the human lineage and before the human–chimp split. The nonsense mutation is located in exon 13 of ACYL3. A multispecies syntenic alignment showing the nonsense mutation (“*”) lies in a highly conserved protein coding region. The stop codon mutation (TGA) is present in the human and chimp genomes, but a TGG tryptophan (W) codon is present in the rhesus, mouse, rat, dog, and other mammalian genomes. The region maps to human Chromosome 18 at location 54,881,070–54,881,124. We sequenced the genomic region in a gorilla DNA sample to show that the codon TGG (W) codon is present in the gorilla genomes.