Sep 6, 2005

Why do human diversity levels vary at a megabase scale?

Genome Research
Ines HellmannSusan E Ptak

Abstract

Levels of diversity vary across the human genome. This variation is caused by two forces: differences in mutation rates and the differential impact of natural selection. Pertinent to the question of the relative importance of these two forces is the observation that both diversity within species and interspecies divergence increase with recombination rates. This suggests that mutation and recombination are either directly coupled or linked through some third factor. Here, we test these possibilities using the recently generated sequence of the chimpanzee genome and new estimates of human diversity. We find that measures of GC and CpG content, simple-repeat structures, as well as the distance from the centromeres and the telomeres predict diversity as well as divergence. After controlling for these factors, large-scale recombination rates measured from pedigrees are still significant predictors of human diversity and human-chimpanzee divergence. Furthermore, the correlation between human diversity and recombination remains significant even after controlling for human-chimpanzee divergence. Two plausible and non-mutually exclusive explanations are, first, that natural selection has shaped the patterns of diversity seen in humans ...Continue Reading

  • References47
  • Citations99

References

  • References47
  • Citations99

Citations

Mentioned in this Paper

Log-Linear Models
Recombination, Genetic
Centromere
Genetic Pedigree
Etiology
Pan troglodytes
Telomere
Pan Genus
Genome, Human
G+C Composition

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