Characterization of unique features of the Denisovan exome

The publicly available Denisovan genome sequence increases opportunities to learn what makes modern humans unique and to discover the distinguishing genetic features of an extinct sister lineage. This thesis explores the latter, with emphasis on male reproductive genes, neuronal genes, and a subset of metabolic genes, specifically those that code for enzymes involved in glycolysis and those that code for proteins that vary in modern human populations in connection with long-term dietary trends in those populations. Results include the identification of 34 neuronal genes with single-nucleotide changes that are derived in the Denisovan protein-coding sequence at loci that are nonpolymorphic in modern humans, the computation of the dN/dS ratio for a semen coagulation factor for which the degree of positive selection is known to be correlated with the females’ mean number of male mating partners per periovulatory period, and the determination of the Denisovan variants at a subset of known modern dietary and metabolism-related single-nucleotide polymorphic loci. Possible behavioral and functional correlates of those unique features are suggested, providing the foundation for further study on Denisovan male reproductive selective pressure, unique neuronal gene features, and metabolic genes.