Relevance of Primate Evolution to Human and Animal Diversity Evan E. Eichler Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
Advances in sequencing technology are beginning to transform our understanding of genetic diversity. Using single-molecule, real-time (SMRT) sequencing technology, I will show how much of the missing structural variation of great ape genomes can now be resolved. New technologies highlight how radically specific regions have changed even between closely related species, such as chimpanzee and human, leading to structural variation important for the evolution of our species. In particular, great ape-duplicated sequences show extraordinary sequence complexity and are important sources for gene innovation and rearrangement associated with neurocognitive and neurodevelopmental diseases. I will present an overview of the evolution of great ape segmental duplication, their association with core duplicons, and their potential to generate neofunctional paralogs through segmental duplication fusion and truncation. I will highlight examples of novel genes that have evolved specifically within the human lineage where functional data suggest they have contributed to unique neuroadaptive aspects of humans, including an increased density of excitatory/inhibitory synapses and the expansion of the frontal cortex. The dynamic nature of duplicated regions and our ability to access their variation has broader ramifications for human health, diversity, and the emergence of adaptive traits in animals.
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