MBE Advance Access originally published online on July 28, 2007
Molecular Biology and Evolution 2007 24(10):2266-2276; doi:10.1093/molbev/msm156
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Research Articles |
Mapping Human Genetic Ancestry
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* Center for Integrative Bioinformatics of Vienna, Max F. Perutz Laboratories, Vienna, Austria
Leibniz Institute for Age Research—Fritz Lipmann Institute, Jena, Germany
University of Vienna, Austria
Medical University of Vienna, Austria
|| University of Veterinary Medicine Vienna, Austria
E-mail: ingo.ebersberger{at}univie.ac.at.
Accepted for publication July 21, 2007.
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.
Key Words: lineage sorting • species evolution • human speciation • homoplasy • fossils
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