title: An enhanced MITOMAP with a global mtDNA mutational phylogeny.
abstract: 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.
authors.affiliation: 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.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Ruiz-Pesini
authors.forename: Marie T
authors.initials: MT
authors.lastname: Lott
authors.forename: Vincent
authors.initials: V
authors.lastname: Procaccio
authors.forename: Jason C
authors.initials: JC
authors.lastname: Poole
authors.forename: Marty C
authors.initials: MC
authors.lastname: Brandon
authors.forename: Dan
authors.initials: D
authors.lastname: Mishmar
authors.forename: Christina
authors.initials: C
authors.lastname: Yi
authors.forename: James
authors.initials: J
authors.lastname: Kreuziger
authors.forename: Pierre
authors.initials: P
authors.lastname: Baldi
authors.forename: Douglas C
authors.initials: DC
authors.lastname: Wallace
mesh_terms: D004272:DNA, Mitochondrial / Q000737:chemistry* / Q000145:classification; D030561:Databases, Nucleic Acid; D016678:Genome; D006801:Humans; D020407:Internet; D028361:Mitochondrial Diseases / Q000235:genetics*; D009154:Mutation; D010802:Phylogeny; D011544:Pseudogenes; D014584:User-Computer Interface
chemical_list: D004272:DNA, Mitochondrial