Spontaneous mutation rates

Research output: Chapter in Book/Report/Conference proceedingChapter


There is a long-standing interest in the study of mutations-from the quest to enhance evolutionary inference related to the genetic underpinnings of disease, to the improvement of our understanding of the chronology of human evolution, to characterizing relationships between species. There is substantial uncertainty in historical estimates obtained from indirect methods: classical genetic approaches, going back to Haldane's work in 1935 that utilized information from incidence of genetic disorders; and phylogenetic approaches, based on Kimura's observation that under neutrality the mutation rate is equal to the rate of divergence. However, recent advances in high-throughput sequencing have made it possible to estimate mutation rates directly from parent-offspring trios and multigenerational pedigrees. Moreover, the combination of mutation accumulation studies with high-throughput sequencing has led to nearly complete, largely unbiased insights into the genome-wide spontaneous mutation rate in several experimentally tractable organisms. This chapter will focus on the basic concepts underlying the different methods used to estimate spontaneous mutation rates and will summarize current knowledge regarding the evolution of mutation rates across taxa.

Original languageEnglish (US)
Title of host publicationThe Molecular Evolutionary Clock
Subtitle of host publicationTheory and Practice
PublisherSpringer International Publishing
Number of pages10
ISBN (Electronic)9783030601812
ISBN (Print)9783030601805
StatePublished - Jan 18 2021


  • Disease incidence-based approach
  • Mutation accumulation study
  • Mutation-selection balance
  • Neutral Theory of Molecular Evolution
  • Pedigree studies
  • Phylogenetic analysis
  • Spontaneous mutation rate

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Medicine(all)


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