The Diversity Present in 5140 Human Mitochondrial Genomes

Pereira, L., Freitas, F., Fernandes, V., Pereira, J. B., Costa, M. D., Costa, S., Maximo, V., Macaulay, V. , Rocha, R. and Samuels, D. C. (2009) The Diversity Present in 5140 Human Mitochondrial Genomes. American Journal of Human Genetics, 84(5), pp. 628-640. (doi: 10.1016/j.ajhg.2009.04.013)

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Publisher's URL: http://dx.doi.org/10.1016/j.ajhg.2009.04.013

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, 1, A, M, and T. This defines a group of amino acids with similar chemical properties that can interconvert by a single transition.

Item Type:Articles
Keywords:ADAPTIVE SELECTION Bias Coding region DATABASE DNA EVOLUTION LONGEVITY MtDNA MUTATIONS PHYLOGENETIC NETWORK SEQUENCE TRANSFER-RNA Trend
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Macaulay, Dr Vincent
Authors: Pereira, L., Freitas, F., Fernandes, V., Pereira, J. B., Costa, M. D., Costa, S., Maximo, V., Macaulay, V., Rocha, R., and Samuels, D. C.
College/School:College of Science and Engineering > School of Mathematics and Statistics > Statistics
Journal Name:American Journal of Human Genetics
ISSN:0002-9297

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