Presentation description

Gene mutations generate genetic variation that can be adaptive or risk-associated, increasing the vulnerability to certain diseases. A type of genetic variant with significant functional impact are gene duplications and deletions, also called copy number variants (CNV's). By looking at these CNVs we can observe how gene copy number has changed through primate evolution, and begin to have a better understanding of which ones might be related to new phenotypes or disease susceptibility. In this study we investigate CNVs in DNA sequence coverage of genes across four great ape species: humans (Homo sapiens), bonobos (Pan paniscus), chimpanzees (Pan troglodytes), and gorillas (Gorilla gorilla). To investigate CNVs across these primates, we analyzed a filtered dataset of DNA sequence coverage for 21,810 genes from 10 individuals from each of the previously mentioned species. Both duplications and deletions were identified by calculating log2 fold changes in gene DNA sequence coverage levels. We found 14 genes duplicated specifically in humans, including two that have not previously been described. We also assessed whether copy number varied within species and aimed to find which factors contribute to that. This research provides a foundation for further analysis of both CNVs that are species-specific and shared across multiple primates, highlighting genes affected by duplications that may contribute to adaptation, phenotypic variation, and potentially to the development of disease. This is a crucial matter because studying CNV across primates can shed some light on different types of vulnerabilities to diseases and find new ways to tackle their treatments.