title: MitoBreak: the mitochondrial DNA breakpoints database.
abstract: Mitochondrial DNA (mtDNA) rearrangements are key events in the development of many diseases. Investigations of mtDNA regions affected by rearrangements (i.e. breakpoints) can lead to important discoveries about rearrangement mechanisms and can offer important clues about the causes of mitochondrial diseases. Here, we present the mitochondrial DNA breakpoints database (MitoBreak; http://mitobreak.portugene.com), a free, web-accessible comprehensive list of breakpoints from three classes of somatic mtDNA rearrangements: circular deleted (deletions), circular partially duplicated (duplications) and linear mtDNAs. Currently, MitoBreak contains >1400 mtDNA rearrangements from seven species (Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Drosophila melanogaster, Caenorhabditis elegans and Podospora anserina) and their associated phenotypic information collected from nearly 400 publications. The database allows researchers to perform multiple types of data analyses through user-friendly interfaces with full or partial datasets. It also permits the download of curated data and the submission of new mtDNA rearrangements. For each reported case, MitoBreak also documents the precise breakpoint positions, junction sequences, disease or associated symptoms and links to the related publications, providing a useful resource to study the causes and consequences of mtDNA structural alterations.
authors.affiliation: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Rua Dr. Roberto Frias s/n, Porto 4200-465, Portugal, Faculty of Sciences, University of Porto, Rua do Campo Alegre, s/n, Porto 4169-007, Portugal and Interdisciplinary Centre of Marine and Environmental Research (CIIMAR/CIMAR), University of Porto, Rua dos Bragas 289, Porto 4050-123, Portugal.
authors.forename: Joana
authors.initials: J
authors.lastname: Damas
authors.forename: João
authors.initials: J
authors.lastname: Carneiro
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Filipe
authors.initials: F
authors.lastname: Pereira
mesh_terms: D000818:Animals; D053960:DNA Breaks; D004272:DNA, Mitochondrial / Q000737:chemistry*; D030561:Databases, Nucleic Acid; D006801:Humans; D020407:Internet; D051379:Mice; D028361:Mitochondrial Diseases / Q000235:genetics; D010641:Phenotype; D051381:Rats; D017384:Sequence Deletion; D012984:Software
chemical_list: D004272:DNA, Mitochondrial