Mutation Rate


Mutation rate is the probability that a mutation occurs on a defined piece of genetic material over a given time frame.

Keywords: mutation rate; incidence; mutation–selection equilibrium; molecular clock


Haldane JBS (1935) The rate of spontaneous mutations of a human gene. Journal of Genetics 33: 317–326.

Krawczak M, Ball EV and Cooper DM (1998) Neighboring‐nucleotide effects on the rates of germ‐line single‐base‐pair substitution in human genes. American Journal of Human Genetics 63: 474–488.

Leopoldino AM and Pena SDJ (2002) The mutational spectrum of human autosomal tetranucleotide microsatellites. Human Mutation 21: 71–79.

Oldenburg J, Schwaab R, Grimm T et al. (1993) Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A. American Journal of Human Genetics 53: 1229–1238.

Further Reading

Lercher MJ and Hurst LD (2002) Human SNP variability and mutation rate are higher in regions of high recombination. Trends in Genetics 18: 337–340.

Smith NG, Webster MT and Ellegren H (2002) Deterministic mutation rate variation in the human genome. Genome Research 12: 1350–1356.

Subramanian S and Kumar S (2003) Neutral substitutions occur at a faster rate in exons than in noncoding DNA in primate genomes. Genome Research 13(5): 838–844.

Sunyaev S, Kondrashov FA, Bork P and Ramensky V (2003) Impact of selection, mutation rate and genetic drift on human genetic variation. Human Molecular Genetics 12: 3325–3330.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Müller‐Myhsok, Bertram(Dec 2007) Mutation Rate. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005441.pub2]