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The role of selection in the evolution of human mitochondrial genomes

Kivisild, T. ; Shen, P. ; Wall, D. P. ; Do, B. ; Sung, R. ; Davis, K. ; Passarino, G. ; Underhill, P. A. ; Scharfe, C. ; Torroni, A. ; Scozzari, R. ; Modiano, D. ; Coppa, A. ; de Knijff, P. ; Feldman, M. ; Cavalli-Sforza, L. L. ; Oefner, Peter J.



Abstract

High mutation rate in mammalian mitochondrial DNA generates a highly divergent pool of alleles even within species that have dispersed and expanded in size recently. Phylogenetic analysis of 277 human mitochondrial genomes revealed a significant (P < 0.01) excess of rRNA and nonsynonymous base substitutions among hotspots of recurrent mutation. Most hotspots involved transitions from guanine to ...

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