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An enhanced MITOMAP with a global mtDNA mutational phylogeny
- Source :
- Nucleic Acids Research, Ruiz-Pesini, Eduardo; Lott, Marie T.; Procaccio, Vincent; Poole, Jason C.; Brandon, Marty C.; Mishmar, Dan; et al.(2006). An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Research, 35(Database issue), D823-D828. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/5qj5q9g8
- Publication Year :
- 2006
- Publisher :
- Oxford University Press, 2006.
-
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.
- Subjects :
- hereditary optic neuropathy
Mitochondrial DNA
Mitochondrial Diseases
Pseudogene
adaptive selection
Biology
Human mitochondrial genetics
DNA, Mitochondrial
Haplogroup
03 medical and health sciences
User-Computer Interface
0302 clinical medicine
longevity
alzheimer-disease
Medicine and Health Sciences
Genetics
Humans
african populations
genome
Phylogeny
030304 developmental biology
mtDNA control region
0303 health sciences
Internet
Genome
Phylogenetic tree
Life Sciences
ancient
Articles
mitochondrial-dna analysis
haplogroups
Mutation
Numt
human-evolution
Databases, Nucleic Acid
030217 neurology & neurosurgery
Pseudogenes
Human mitochondrial DNA haplogroup
Subjects
Details
- Language :
- English
- ISSN :
- 13624962 and 03051048
- Volume :
- 35
- Database :
- OpenAIRE
- Journal :
- Nucleic Acids Research
- Accession number :
- edsair.doi.dedup.....3b29da1956004db9015aac9a94c7b495