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Nucleic Acids Research Advance Access published online on December 18, 2006
Nucleic Acids Research, doi:10.1093/nar/gkl927
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© 2006 The Author(s).
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.

Database Issue

An enhanced MITOMAP with a global mtDNA mutational phylogeny

Eduardo Ruiz-Pesini1,2, Marie T. Lott1, Vincent Procaccio1, Jason C. Poole1, Marty C. Brandon1,3,4, Dan Mishmar1,5, Christina Yi1, James Kreuziger1, Pierre Baldi3,4 and Douglas C. Wallace1,3,*

1 Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG) and Departments of Biological Chemistry, Ecology and Evolutionary Biology, and Pediatrics, University of California Irvine, CA 92697-3900, USA 2 Departamento de Bioquimica, Biologia Molecular y Celula, Universidad de Zaragoza Zaragoza, Spain 3 School of Information and Computer Science, University of California Irvine, CA 92697-3425, USA 4 Institute for Genomics and Bioinformatics, University of California Irvine, CA 92697-2025, USA 5 Department of Life Sciences, Building 40 Ben Gurion University, Beer Sheva, Israel

*To whom correspondence should be addressed: Tel: +1 949 824 3490; Fax: +1 949 824 6388; Email: dwallace{at}uci.edu

Received September 14, 2006. Revised October 12, 2006. Accepted October 17, 2006.

The MITOMAP (http://www.mitomap.org) data system for the human mitochondrial genome has been greatly enhanced by the addition of a navigable mutational mitochondrial DNA (mtDNA) phylogenetic tree of ~3000 mtDNA coding region sequences plus expanded pathogenic mutation tables and a nuclear-mtDNA pseudogene (NUMT) data base. The phylogeny reconstructs the entire mutational history of the human mtDNA, thus defining the mtDNA haplogroups and differentiating ancient from recent mtDNA mutations. Pathogenic mutations are classified by both genotype and phenotype, and the NUMT sequences permits detection of spurious inclusion of pseudogene variants during mutation analysis. These additions position MITOMAP for the implementation of our automated mtDNA sequence analysis system, Mitomaster.


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