Article
Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations.
Proceedings of the National Academy of Sciences of the United States of America - 24 Feb 2015
Li Mingkun, Schröder Roland, Ni Shengyu, Madea Burkhard, Stoneking Mark
Abstract excerpt
Heteroplasmy in human mtDNA may play a role in cancer, other diseases, and aging, but patterns of heteroplasmy variation across different tissues have not been thoroughly investigated. Here, we analyzed complete mtDNA genome sequences at ∼3,500× average coverage from each of 12 tissues obtained at autopsy from each of 152 individuals. We identified 4,577 heteroplasmies (with an alternative allele frequency of at...
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