Intron length and accelerated 3' gene evolution

Genomics. 2006 Dec;88(6):682-689. doi: 10.1016/j.ygeno.2006.06.017. Epub 2006 Aug 22.

Abstract

Genetic evolution depends in part upon a balance between negative selection and environmentally driven mutation. To explore whether this balance is affected by gene structure, we have used phylogenetic data mining to compare gene compositions across a range of species. Here we show that genomes of higher species exhibit a greater frequency of 5' CpG islands and of CpG-->TpG/CpA transitions. This latter mutational pattern exhibits a 5'-to-3' trend in higher species, consistent with a length-dependent effect on methylation-dependent CpG suppression. Associated strand asymmetry (TpG>CpA) declines with gene length, implying attenuation of transcription-coupled repair 3' to introns. A sharp 3' rise in coding region single-nucleotide polymorphism frequency further supports a mechanistic role for intron length in promoting genetic variation by reducing repair and/or weakening negative selection. Consistent with this, the Ka/Ks ratio of 3' exons exceeds that of centrally located exons in intron-containing, but not in intronless, genes (p<0.0003). We conclude that the efficiency of transcription-coupled repair decreases with gene length, suggesting in turn that 3' gene evolution is accelerated both by introns and by gene methylation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics*
  • Animals
  • Caenorhabditis elegans / genetics
  • CpG Islands / genetics*
  • DNA Methylation
  • DNA Repair
  • Dinucleoside Phosphates / genetics
  • Drosophila melanogaster / genetics
  • Evolution, Molecular*
  • Genes*
  • Humans
  • Introns / genetics*
  • Mice
  • Polymorphism, Single Nucleotide
  • Species Specificity
  • Transcription, Genetic
  • Zebrafish / genetics

Substances

  • 3' Untranslated Regions
  • Dinucleoside Phosphates
  • cytidylyl-3'-5'-guanosine