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Bioessays. 2009 Jan;31(1):98-106. doi: 10.1002/bies.080081.

The spectra of point mutations in vertebrate genomes.

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Department of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.


In spite of the importance of point mutations for evolution and human diseases, their natural spectrum of incidence in different species is not known. Here I propose to determine these spectra by comparing consecutive sequence periods in stretches of repetitive DNA. The article presents the analysis of more than 51,000 such point mutations identified by this approach in the genomes of human, chimpanzee, rat, mouse, pufferfish, zebrafish, and sea squirt. I propose to explain the observed spectra by auto-mutagenic mechanisms of genome variation involving the inter-conversions of nucleotides, single base-pair inversions and their combinations.

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