Recurrent Tissue-Specific mtDNA Mutations Are Common in Humans

• Published in: PLoS genetics Vol. 9; no. 11; p. e1003929
• Main Authors: Samuels, David C., Li, Chun, Li, Bingshan, Song, Zhuo, Torstenson, Eric, Boyd Clay, Hayley, Rokas, Antonis, Thornton-Wells, Tricia A., Moore, Jason H., Hughes, Tia M., Hoffman, Robert D., Haines, Jonathan L., Murdock, Deborah G., Mortlock, Douglas P., Williams, Scott M.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 01.11.2013; Public Library of Science (PLoS)
• Subjects: Aging; Base Sequence; Cell division; Deoxyribonucleic acid; DNA; DNA Replication - genetics; DNA, Mitochondrial - genetics; Gene mutations; Genome, Mitochondrial; Genomes; Humans; Mitochondria - genetics; Mitochondrial DNA; Muscle, Skeletal - metabolism; Musculoskeletal system; Mutation; Mutation - genetics; Organ Specificity; Physiological aspects; Polymorphism, Restriction Fragment Length - genetics; Population genetics; United States

Mitochondrial DNA (mtDNA) variation can affect phenotypic variation; therefore, knowing its distribution within and among individuals is of importance to understanding many human diseases. Intra-individual mtDNA variation (heteroplasmy) has been generally assumed to be random. We used massively para...