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Mapping human genetic ancestry
Authors:Ebersberger Ingo  Galgoczy Petra  Taudien Stefan  Taenzer Simone  Platzer Matthias  von Haeseler Arndt
Affiliation:Center for Integrative Bioinformatics of Vienna, Max F. Perutz Laboratories, Vienna, Austria. ingo.ebersberger@univie.ac.at
Abstract:The human genome is a mosaic with respect to its evolutionary history. Based on a phylogenetic analysis of 23,210 DNA sequence alignments from human, chimpanzee, gorilla, orangutan, and rhesus, we present a map of human genetic ancestry. For about 23% of our genome, we share no immediate genetic ancestry with our closest living relative, the chimpanzee. This encompasses genes and exons to the same extent as intergenic regions. We conclude that about 1/3 of our genes started to evolve as human-specific lineages before the differentiation of human, chimps, and gorillas took place. This explains recurrent findings of very old human-specific morphological traits in the fossils record, which predate the recent emergence of the human species about 5-6 MYA. Furthermore, the sorting of such ancestral phenotypic polymorphisms in subsequent speciation events provides a parsimonious explanation why evolutionary derived characteristics are shared among species that are not each other's closest relatives.
Keywords:lineage sorting    species evolution    human speciation    homoplasy    fossils
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