Effects of purifying and adaptive selection on regional variation in human mtDNA

Science. 2004 Jan 9;303(5655):223-6. doi: 10.1126/science.1088434.

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 variants are influencing our health today.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptation, Physiological*
  • Africa
  • Arctic Regions
  • Asia
  • Climate*
  • Cold Climate
  • Conserved Sequence
  • Continental Population Groups / genetics
  • DNA, Mitochondrial / genetics*
  • Emigration and Immigration
  • Energy Metabolism
  • Europe
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Haplotypes
  • Humans
  • Longevity
  • Metabolic Diseases / genetics
  • Mitochondria / metabolism
  • Mutation
  • Neurodegenerative Diseases / genetics
  • Phenotype
  • Phylogeny
  • Selection, Genetic*
  • Siberia

Substances

  • DNA, Mitochondrial