Transcription-associated mutational asymmetry in mammalian evolution

Phil Green, Brent Ewing, Webb Miller, Pamela J. Thomas, J. Thomas, J. Touchman, R. Blakesley, G. Bouffard, S. Beckstrom-Sternberg, J. McDowell, B. Maskeri, A. Smit, D. Haussler, Eric D. Green

Research output: Contribution to journalArticlepeer-review

230 Scopus citations


Although mutation is commonly thought of as a random process, evolutionary studies show that different types of nucleotide substitution occur with widely varying rates that presumably reflect biases intrinsic to mutation and repair mechanisms1-4. A strand asymmetry5,6, the occurrence of particular substitution types at higher rates than their complementary types, that is associated with DNA replication has been found in bacteria7 and mitochondria8. A strand asymmetry that is associated with transcription and attributable to higher rates of cytosine deamination on the coding strand has been observed in enterobacteria9-11. Here, we describe a qualitatively different transcription-associated strand asymmetry in mammals, which may be a byproduct of transcription-coupled repair12 in germline cells. This mutational asymmetry has acted over long periods of time to produce a compositional asymmetry, an excess of G+T over A+C on the coding strand, in most genes. The mutational and compositional asymmetries can be used to detect the orientations and approximate extents of transcribed regions.

Original languageEnglish (US)
Pages (from-to)514-517
Number of pages4
JournalNature Genetics
Issue number4
StatePublished - Apr 1 2003

ASJC Scopus subject areas

  • Genetics


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