Article
Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease.
Genome biology and evolution - 1 Jan 2013
Levin Liron, Zhidkov Ilia, Gurman Yotam, Hawlena Hadas, Mishmar Dan
Abstract excerpt
Mutations frequently reoccur in the human mitochondrial DNA (mtDNA). However, it is unclear whether recurrent mtDNA nodal mutations (RNMs), that is, recurrent mutations in stems of unrelated phylogenetic nodes, are functional and hence selectively constrained. To answer this question, we performed comprehensive parsimony and maximum likelihood analyses of 9,868 publicly available whole human mtDNAs revealing...
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