The Diversity Present in 5140 Human Mitochondrial Genomes

• Type: Article in International Scientific Journal
• Date: 2009

Authors

Luisa Pereira (Author) Other; Fernando Freitas (Author) Other; Veronica Fernandes (Author) Other; Joana B Pereira (Author) Other; Marta D Costa (Author) Other; Stephanie Costa (Author) Other; Valdemar Maximo (Author) FMUP; Vincent Macaulay (Author) Other; Ricardo Rocha (Author) FCUP; David C Samuels (Author) Other

Journal

Title: American Journal of Human Genetics

Vol. 84

Pages: 628-640

ISSN: 0002-9297

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 99 Citations

Scopus - 109 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-003-K32

DOI: 10.1016/j.ajhg.2009.04.013

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 13