The roles of structurally complex region in primate evolution and human neurological disease
by Yafei Mao | Shanghai Jiaotong University
Abstract ID: 98
Event: The 3rd AsiaEvo Conference
Topic: Genetics of adaptation and evolution of novel traits
Presenter Name: Yafei Mao

Understanding the evolutionary history of genetic loci associated with novel traits is a key objective in evolutionary biology. Numerous traits emerge or disappear over time in primate evolution. However, our knowledge of the roles played by structurally complex regions in primate evolution and their association with traits has been constrained by technological limitations. Here, we used long-read sequencing to generate high-quality genome assemblies for eight primate species. We found 1,607 structurally complex regions wherein recurrent structural variation contributes to creating SV hotspots where genes are recurrently lost (CARDs, ABCD7, OLAH) and new lineage-specific genes are generated (e.g., CKAP2, NEK5) and have become targets of rapid chromosomal diversification and positive selection (e.g., RGPDs). The genes within structurally complex regions or the genetic architecture of these regions are likely associated with primate trait evolution and potentially implicated in human neurological disease. High-fidelity long-read sequencing has made these dynamic regions of the genome accessible for sequence-level analyses within and between primate species for the first time.