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.

Figure 1

(A) Sequential mutational phylogenetic tree of 2959 mtDNA coding region sequences. The full tree is available in PDF format at . All mutations are transitions except where indicated. Black polymorphisms represent nonsynonymous mutations (amino acid, position, amino acid, gene), red synonymous mutations (gene), green tRNA or rRNA mutations (gene), blue indicates non-coding nucleotides in the coding region and underlined yellow represent pathological mutations. Large blue letters indicate a haplogroup designation and large black letters allow for navigation of the tree at low magnification. Numbers in black below the final polymorphism are the bibliographic references and sequence identifiers. For example, 4(55) indicates Howell's article (4 is the code for this article) and 55 is the number of the sequence in the article). The bibliographic references are available on the mitomap website. (B) Magnification of blue box in Figure1A showing details of the tree for subhaplogroup J2b.