The Diversity Present in 5140 Human Mitochondrial Genomes

被引：101

作者：

Pereira, Luisa ^{[2
,3
]}

Freitas, Fernando ^{[2
]}

Fernandes, Veronica ^{[2
]}

Pereira, Joana B. ^{[2
]}

Costa, Marta D. ^{[2
]}

Costa, Stephanie ^{[2
]}

Maximo, Valdemar ^{[2
,3
]}

Macaulay, Vincent ^{[4
]}

Rocha, Ricardo ^{[5
]}

Samuels, David C. ^{[1
]}

机构：

[1] Vanderbilt Univ, Med Ctr, Ctr Human Genet Res, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA

[2] Univ Porto IPATIMUP, Inst Patol & Imunol Mol, P-4200465 Oporto, Portugal

[3] Univ Porto, Fac Med, P-4200465 Oporto, Portugal

[4] Univ Glasgow, Dept Stat, Glasgow G12 8QQ, Lanark, Scotland

[5] Univ Porto, Dept Ciencias Computadores, Fac Ciencias, P-4169007 Oporto, Portugal

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2009年 / 84卷 / 05期

关键词：

TRANSFER-RNA; PHYLOGENETIC NETWORK; ADAPTIVE SELECTION; DNA; SEQUENCE; MUTATIONS; DATABASE; LONGEVITY; EVOLUTION; VARIANTS;

D O I：

10.1016/j.ajhg.2009.04.013

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：628 / 640

页数：13

共 37 条

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