Adjusting the focus on human variation

Trends Genet. 2000 Jul;16(7):296-302. doi: 10.1016/s0168-9525(00)02030-8.


Studies of nuclear sequence variation are accumulating, such that we can expect a good description of the structure of human variation across populations and genomic regions in the near future. This description will help to elucidate the evolutionary forces that shape patterns of variability. Such an understanding will be of general biological interest, but could also facilitate the design and interpretation of disease-mapping studies. Here, we integrate the results from surveys of nuclear sequence variation. When nuclear sequences are considered together with mtDNA and microsatellites, it becomes clear that neither the standard neutral model, nor a simple long-term exponential growth model, can account for all the available human variation data. A possible explanation is that a subset of loci are not evolving neutrally; even so, more-complex models of effective population size and structure might be necessary to explain the data.

Publication types

  • Review

MeSH terms

  • Biological Evolution
  • Genetic Variation*
  • Genetics, Medical*
  • Humans
  • Selection, Genetic