Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity

We used detailed phylogenetic trees for human mtDNA, combined with pathogenicity predictions for each amino acid change, to evaluate selection on mtDNA-encoded protein variants. Protein variants with high pathogenicity scores were significantly rarer in the older branches of the tree. Variants that...

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Bibliographic Details
Main Author: Pereira, L (author)
Other Authors: Soares, P (author), Radivojac, P (author), Li, B (author), Samuels, DC (author)
Format: article
Language:eng
Published: 2011
Subjects:
Amino Acid Substitution
DNA Mitochondrial/genetics
Evolution, Molecular
Female
Genes Mitochondrial
Genetic Variation
Humans
Male
Mitochondrial Proteins/genetics
Mutation
Phylogeny
Selection Genetic
Online Access:http://hdl.handle.net/10216/109550
Country:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/109550

Internet

http://hdl.handle.net/10216/109550

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