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MBE Advance Access published online on July 28, 2007
Molecular Biology and Evolution, doi:10.1093/molbev/msm156
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© 2007 The Authors
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Research Article

Mapping Human Genetic Ancestry

Ingo Ebersberger1,3,4,5, Petra Galgoczy2, Stefan Taudien2, Simone Taenzer2, Matthias Platzer2 and Arndt von Haeseler1,3,4,5

1 Center for Integrative Bioinformatics of Vienna, Max F. Perutz Laboratories, Vienna, Austria
2 Leibniz Institute for Age Research – Fritz Lipmann Institute, Jena, Germany (FLI/former IMB)
3 University of Vienna, Austria
4 Medical University of Vienna
5 University of Veterinary Medicine Vienna, Austria

Correspondence to: Ingo Ebersberger, Center for Integrative Bioinformatics Vienna, Max F. Perutz Laboratories, Dr. Bohr Gasse 9, A-1030 Vienna, Austria, E-mail: ingo.ebersberger{at}univie.ac.at, Phone: +43-(0)1-79044 4585, Fax: +43-(0)1-79044 4551

Received for publication July 18, 2007. 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 sequences 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 evolved as human specific lineages before the differentiation of human, chimps and gorillas took place. This elegantly 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 million years ago. 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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