Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA
University of California, Irvine · Institut thématique Génétique, génomique et bioinformatique · +1 more institution
Abstract
A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence. The relative frequency and amino acid conservation of internal branch replacement mutations was found to increase from tropical Africa to temperate Europe and arctic northeastern Siberia. Particularly highly conserved amino acid substitutions were found at the roots of multiple mtDNA lineages from higher latitudes. These same lineages correlate with increased propensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same…
Citation impact
- FWCI
- 35.94
- Percentile
- 100%
- References
- 26
Authors
5- EREduardo Ruiz‐Pesini
University of California, Irvine, Institut thématique Génétique, génomique et bioinformatique, MRC Mitochondrial Biology Unit
- DMDan Mishmar
University of California, Irvine, Institut thématique Génétique, génomique et bioinformatique, MRC Mitochondrial Biology Unit
- MBMartin Brandon
University of California, Irvine, Institut thématique Génétique, génomique et bioinformatique, MRC Mitochondrial Biology Unit
- VPVincent Procaccio
University of California, Irvine, Institut thématique Génétique, génomique et bioinformatique, MRC Mitochondrial Biology Unit
- DCDouglas C. WallaceCorresponding
University of California, Irvine, Institut thématique Génétique, génomique et bioinformatique, MRC Mitochondrial Biology Unit
Topics & keywords
- Mitochondrial DNA
- Phylogenetic tree
- Biology
- Genetics
- Mutation
- Gene
- Negative selection
- Evolutionary biology
- Climate action