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Author(s): Pereira, L
Freitas, F
Fernandes, V
Pereira, JB
Costa, MD
Costa, S
Máximo, V
Macaulay, V
Rocha, R
Samuels, DC
Title: The diversity present in 5140 human mitochondrial genomes
Publisher: Elsevier Inc.
Issue Date: 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.
Subject: Base Sequence
DNA Mitochondrial/genetics
Databases Genetic
Genetic Variation
Genome Human
Genome Mitochondrial
Molecular Sequence Data
Nucleic Acid Conformation
RNA Transfer/genetics
Source: American Journal of Human Genetics, vol. 84(5), p. 628-40
Document Type: Artigo em Revista Científica Internacional
Rights: restrictedAccess
Appears in Collections:I3S - Artigo em Revista Científica Internacional

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