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MBE Advance Access published online on September 26, 2008
Molecular Biology and Evolution, doi:10.1093/molbev/msn214
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© 2008 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

An ancient evolutionary origin of genes associated with human genetic diseases

Tomislav Domazet-Loso1,2 and Diethard Tautz1,3

1 Max-Planck Institut für Evolutionsbiologie, August-Thienemannstrasse 2, 24306 Plön, Germany, Phone: 04522 763 390; Fax: 04522 763 281; email: tautz@evolbio.mpg.de
2 Laboratory of Evolutionary Genetics, Division of Molecular Biology, Ruder Boskovic Institute, Bijenicka cesta 54, P.P. 180, 10002 Zagreb, Croatia

3 Max-Planck Institut für Evolutionsbiologie, August-Thienemannstrasse 2, 24306 Plön, Germany Phone: 04522 763 390; Fax: 04522 763 281; email: tautz{at}evolbio.mpg.de

Received for publication August 7, 2008. Revision received September 15, 2008. Accepted for publication September 19, 2008.

Several thousand genes in the human genome have been linked to a heritable genetic disease. The majority of these appear to be non-essential genes (i.e. are not embryonically lethal when inactivated) and one could therefore speculate that they are late additions in the evolutionary lineage towards humans. Contrary to this expectation, we find that they are in fact significantly over-represented among the genes that have emerged during the early evolution of the metazoa. Using a phylostratigraphic approach, we have studied the evolutionary emergence of such genes at 19 phylogenetic levels. The majority of disease genes was already present in the eukaryotic ancestor and the second largest number has arisen around the time of evolution of multicellularity. Conversely, genes specific to the mammalian lineage are highly underrepresented. Hence, genes involved in genetic diseases are not simply a random subset of all genes in the genome, but are biased towards ancient genes.

Key Words: phylostratigraphy • orphan genes


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