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
2009
Abstract
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.
Bibtex
Article{pereira-ajhg09,
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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