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An enhanced MITOMAP with a global mtDNA mutational phylogeny

2006; Oxford University Press; Volume: 35; Issue: Database Linguagem: Inglês

10.1093/nar/gkl927

1362-4962

Eduardo Ruiz‐Pesini, Marie T. Lott, Vincent Procaccio, Jason C. Poole, Martin Brandon, Dan Mishmar, Cao Yi, J. Kreuziger, Pierre Baldi, Douglas C. Wallace,

ATP Synthase and ATPases Research

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 approximately 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.