The origins, patterns and implications of human spontaneous mutation

Nat Rev Genet. 2000 Oct;1(1):40-7. doi: 10.1038/35049558.


The germline mutation rate in human males, especially older males, is generally much higher than in females, mainly because in males there are many more germ-cell divisions. However, there are some exceptions and many variations. Base substitutions, insertion-deletions, repeat expansions and chromosomal changes each follow different rules. Evidence from evolutionary sequence data indicates that the overall rate of deleterious mutation may be high enough to have a large effect on human well-being. But there are ways in which the impact of deleterious mutations can be mitigated.

Publication types

  • Review

MeSH terms

  • Female
  • Germ-Line Mutation*
  • Humans
  • Male
  • Paternal Age
  • Selection, Genetic