The distribution of the ancestral haplotype in finite stepping-stone models with population expansion

Mol Ecol. 2004 Apr;13(4):877-86. doi: 10.1046/j.1365-294x.2003.02069.x.


Recent extensive analyses of human DNA polymorphism reveal that the ancestral haplotype at various genetic loci occurs almost exclusively in African samples. We develop a coalescence-based simulation method in stepping-stone models with population expansion and examine the probability (P(A)) that the ancestral haplotype is found in African samples and the probability (Q(A)) that the most recent common ancestor of sampled genes occurs in Africa. These probabilities and other summary statistics are used to infer the human demographic history. It is shown that the high observed P(A) value cannot be explained simply by sampling bias. Rather, it suggests that the African population has been more strongly subdivided and isolated from each other than the non-African population and that there must have been some African populations which were not directly involved in the Out-of-Africa expansion in the late Pleistocene.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • Computer Simulation
  • Demography
  • Genetics, Population*
  • Geography
  • Haplotypes / genetics*
  • Humans
  • Models, Genetic*
  • Polymorphism, Genetic*
  • Population Dynamics