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Published online on January 15, 2002, 10.1073/pnas.022629899
PNAS | January 22, 2002 | vol. 99 | no. 2 | 803-808


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Evolution
 Mutation rates in mammalian genomes

(neutral evolution|substitution pattern|disparity index|generation length|molecular clock)

Sudhir Kumar*,dagger and Sankar Subramanian*

Department of Biology, Arizona State University, Tempe, AZ 85287-1501

Communicated by Calyampudi R. Rao, Pennsylvania State University, University Park, PA, November 27, 2001 (received for review November 7, 2001)

Knowledge of the rate of point mutation is of fundamental importance, because mutations are a vital source of genetic novelty and a significant cause of human diseases. Currently, mutation rate is thought to vary many fold among genes within a genome and among lineages in mammals. We have conducted a computational analysis of 5,669 genes (17,208 sequences) from species representing major groups of placental mammals to characterize the extent of mutation rate differences among genes in a genome and among diverse mammalian lineages. We find that mutation rate is approximately constant per year and largely similar among genes. Similarity of mutation rates among lineages with vastly different generation lengths and physiological attributes points to a much greater contribution of replication-independent mutational processes to the overall mutation rate. Our results suggest that the average mammalian genome mutation rate is 2.2 × 10-9 per base pair per year, which provides further opportunities for estimating species and population divergence times by using molecular clocks.

* S.K. and S.S. contributed equally to this work.

dagger To whom reprint requests should be addressed at: Department of Biology, Life Sciences A-371, Arizona State University, Tempe, AZ 85287-1501. E-mail: s.kumar{at}asu.edu.

www.pnas.org/cgi/doi/10.1073/pnas.022629899
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