title: mtDNA Variation and Analysis Using Mitomap and Mitomaster.
abstract: The Mitomap database of human mitochondrial DNA (mtDNA) information has been an important compilation of mtDNA variation for researchers, clinicians and genetic counselors for the past twenty-five years. The Mitomap protocol shows how users may look up human mitochondrial gene loci, search for public mitochondrial sequences, and browse or search for reported general population nucleotide variants as well as those reported in clinical disease. Within Mitomap is the powerful sequence analysis tool for human mitochondrial DNA, Mitomaster. The Mitomaster protocol gives step-by-step instructions showing how to submit sequences to identify nucleotide variants relative to the rCRS, to determine the haplogroup, and to view species conservation. User-supplied sequences, GenBank identifiers and single nucleotide variants may be analyzed.
authors.affiliation: Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA.
authors.forename: Marie T
authors.initials: MT
authors.lastname: Lott
authors.affiliation: Center for Biomedical Informatics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA; phone: 1-267-426-1375; fax: 1-215-590-5245.
authors.forename: Jeremy N
authors.initials: JN
authors.lastname: Leipzig
authors.affiliation: Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA; phone: 1-267-425-3064; fax: 1-267-426-0978; work cell: 1-215-866-8121.
authors.forename: Olga
authors.initials: O
authors.lastname: Derbeneva
authors.affiliation: Center for Biomedical Informatics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA; phone: 1-267-426-0675; fax: 1-215-590-5245.
authors.forename: H Michael
authors.initials: HM
authors.lastname: Xie
authors.affiliation: Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA.
authors.forename: Dimitra
authors.initials: D
authors.lastname: Chalkia
authors.affiliation: Center for Biomedical Informatics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA; phone: 1-267-426-1373; fax: 1-215-590-5245.
authors.forename: Mahdi
authors.initials: M
authors.lastname: Sarmady
authors.affiliation: National Center for Neurodegenerative and Mitochondrial Diseases CHU Angers, Biochemistry and Genetics Department, Angers, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Procaccio
authors.affiliation: Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA; Department of Pathology and Laboratory Medicine; University of Pennsylvania, Philadelphia, PA; phone: 1-267-425-3078; fax: 1-267-426-0978.
authors.forename: Douglas C
authors.initials: DC
authors.lastname: Wallace
mesh_terms: D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D030541:Databases, Genetic; D005815:Genetic Code; D014644:Genetic Variation; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016415:Sequence Alignment; D012984:Software
chemical_list: D004272:DNA, Mitochondrial
keywords: GenBank sequences; biological database; haplogroups; human mitochondrial DNA; information retrieval; single nucleotide variants; species conservation