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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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© 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 Articles

Mapping Human Genetic Ancestry

Ingo Ebersberger*,{ddagger},§,||, Petra Galgoczy{dagger}, Stefan Taudien{dagger}, Simone Taenzer{dagger}, Matthias Platzer{dagger} and Arndt von Haeseler*,{ddagger},§,||

* Center for Integrative Bioinformatics of Vienna, Max F. Perutz Laboratories, Vienna, Austria
{dagger} Leibniz Institute for Age Research—Fritz Lipmann Institute, Jena, Germany
{ddagger} 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

Associate Editor


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