The Diversity Present in 5140 Human Mitochondrial Genomes

• Tipo: Artigo em Revista Científica Internacional
• Data: 2009

Autores

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

Revista

Título: American Journal of Human Genetics

Vol. 84

Páginas: 628-640

ISSN: 0002-9297

Editora: Elsevier

Indexação

ISI Web of Knowledge - 99 Citações

Scopus - 109 Citações

Classificação Científica

FOS: Ciências exactas e naturais > Ciências da terra e ciências do ambiente

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 13