The Diversity Present in 5140 Human Mitochondrial Genomes

Luísa Pereira, Fernando Freitas, Verónica Fernandes, Joana B. Pereira, Marta D. Costa, Stephanie Costa, Valdemar Máximo, Vincent Macaulay, Ricardo Rocha and David C. Samuels



We analyzed the current status (as of the end of August 2008) of human mitochondrial genomes deposited in GenBank, amounting to 5140 complete or coding-region sequences, in order to present an overall picture of the diversity present in the mitochondrial DNA of the global human population. To perform this task, we developed mtDNA-GeneSyn, a computer tool that identifies and exhaustedly classifies the diversity present in large genetic data sets. The diversity observed in the 5140 human mitochondrial genomes was compared with all possible transitions and transversions from the standard human mitochondrial reference genome. This comparison showed that tRNA and rRNA secondary structures have a large effect in limiting the diversity of the human mitochondrial sequences, whereas for the protein-coding genes there is a bias toward less variation at the second codon positions. The analysis of the observed amino acid variations showed a tolerance of variations that convert between the amino acids V, I, A, M, and T. This defines a group of amino acids with similar chemical properties that can interconvert by a single transition.


  author =    {L. Pereira and F. Freitas and V. Fernandes and J. B. Pereira and M. D. Costa
               and S. Costa and V. Máximo and V. Macaulay and R. Rocha and D. C. Samuels},
  title =     {{The Diversity Present in 5140 Human Mitochondrial Genomes}},
  journal =   {The American Journal of Human Genetics},
  pages =     {628--640},
  volume =    {84},
  number =    {5},
  year =      {2009},

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