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What makes us human: insights from a dynamic genome

Evan E. Eichler

Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195

One of the most striking features of human evolution has been the expansion of the neocortex ~2 million years ago. Studies of human and great ape genomes point to a burst of duplicated sequences in the common ancestor of humans and the apes in contrast to other mutational processes, which have slowed at this point in time. I will show that much of the interspersed human duplication architecture is focused around core duplicons corresponding to the expansion of gene families that show signatures of positive selection and which lack orthologs in other mammalian species. I will highlight recent examples of how duplications specifically within the human species have led to novel genes important in the expansion of the neocortex through changes in cell migration and proliferation during neurodevelopment. Paradoxically, the duplication architecture complexity has led to a high background rate of copy number variation mutation associated with neuropsychiatric and neurodevelopmental disease in the human species. We propose that novel adaptations that make us human and increased disease burden are evolutionarily linked.

Last checked 2018-04-20 by Martina Bernhard

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