Relative roles of mutation and selection in the maintenance of genetic variability

Abstract

The extent and pattern of protein and DNA polymorphisms are discussed with emphasis on the mechanism of maintenance of the polymorphisms. Statistical studies suggest that a large proportion of genetic variability at the molecular level is maintained by a mutation-drift balance. At some loci, such as those for histocompatibility in mammals, however, a form of overdominant selection seems to be involved. In the presence of overdominant selection, polymorphic alleles may be maintained for tens of millions of years, so that the number of nucleotide differences between alleles is often very large, as in the case of self-incompatibility alleles in plants. There are also an increasing number of examples in which an adaptive change of a morphological or physiological character is caused by a single nucleotide substitution. Nevertheless, these mutations seem to be a small proportion of the total nucleotide changes that contribute to genetic variability and evolution. Although there are many examples of frequency-dependent selection, this form of selection is apparently unimportant for the maintenance of genetic variability except in some special cases. Observations on the evolutionary change of DNA suggest that the driving force of evolution is mutation rather than selection.