Transcription-associated mutational asymmetry in mammalian evolution

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

Research output: Contribution to journalArticle

197 Citations (Scopus)

Abstract

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
Volume33
Issue number4
DOIs
StatePublished - Apr 1 2003
Externally publishedYes

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Deamination
Mutation
Cytosine
DNA Replication
Mammals
Nucleotides
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Green, P., Ewing, B., Miller, W., Thomas, P. J., Thomas, J., Touchman, J., ... Green, E. D. (2003). Transcription-associated mutational asymmetry in mammalian evolution. Nature Genetics, 33(4), 514-517. https://doi.org/10.1038/ng1103

Transcription-associated mutational asymmetry in mammalian evolution. / Green, Phil; Ewing, Brent; Miller, Webb; Thomas, Pamela J.; Thomas, J.; Touchman, J.; Blakesley, R.; Bouffard, G.; Beckstrom-Sternberg, Stephen M; McDowell, J.; Maskeri, B.; Smit, A.; Haussler, D.; Green, Eric D.

In: Nature Genetics, Vol. 33, No. 4, 01.04.2003, p. 514-517.

Research output: Contribution to journalArticle

Green, P, Ewing, B, Miller, W, Thomas, PJ, Thomas, J, Touchman, J, Blakesley, R, Bouffard, G, Beckstrom-Sternberg, SM, McDowell, J, Maskeri, B, Smit, A, Haussler, D & Green, ED 2003, 'Transcription-associated mutational asymmetry in mammalian evolution', Nature Genetics, vol. 33, no. 4, pp. 514-517. https://doi.org/10.1038/ng1103
Green P, Ewing B, Miller W, Thomas PJ, Thomas J, Touchman J et al. Transcription-associated mutational asymmetry in mammalian evolution. Nature Genetics. 2003 Apr 1;33(4):514-517. https://doi.org/10.1038/ng1103
Green, Phil ; Ewing, Brent ; Miller, Webb ; Thomas, Pamela J. ; Thomas, J. ; Touchman, J. ; Blakesley, R. ; Bouffard, G. ; Beckstrom-Sternberg, Stephen M ; McDowell, J. ; Maskeri, B. ; Smit, A. ; Haussler, D. ; Green, Eric D. / Transcription-associated mutational asymmetry in mammalian evolution. In: Nature Genetics. 2003 ; Vol. 33, No. 4. pp. 514-517.
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