Join us in the ASHG 2023 Poster Hall for our presentation on November 2, 2023.

We investigate the evolution of human exome variation within the Primate Order. Our project focused on identification of those genes that rapidly evolve only in humans compared to our extended family of the Primate Order. We queried the CodeXome® database created from exome data sequenced from 55 of 77 exotic genera within Primates, rooted by Scandentia, and anchored to human exome build HG38 coordinates. Our search identified those genes with the highest number of human-specific mutations relative to the rest of the primate phylogeny. Our results included ADCYAP1, adenylate cyclase activating polypeptide 1, a gene that encodes a neuropeptide linked with adrenal stress response. We found this gene to have a unique pattern of evolution within the exome and provide detailed insights on rates of mutation, patterns of selection and potential impact in mediating neuroendocrine stress response in primates. This study represents the first comprehensive comparative evidence for how the gene evolves, and baselines natural variation for interpreting potential variants liked with PTSD.