Natural insertions in rice commonly form tandem duplications indicative of patch-mediated double-strand break induction and repair

Proc Natl Acad Sci U S A. 2014 May 6;111(18):6684-9. doi: 10.1073/pnas.1321854111. Epub 2014 Apr 23.

Abstract

The insertion of DNA into a genome can result in the duplication and dispersal of functional sequences through the genome. In addition, a deeper understanding of insertion mechanisms will inform methods of genetic engineering and plant transformation. Exploiting structural variations in numerous rice accessions, we have inferred and analyzed intermediate length (10-1,000 bp) insertions in plants. Insertions in this size class were found to be approximately equal in frequency to deletions, and compound insertion-deletions comprised only 0.1% of all events. Our findings indicate that, as observed in humans, tandem or partially tandem duplications are the dominant form of insertion (48%), although short duplications from ectopic donors account for a sizable fraction of insertions in rice (38%). Many nontandem duplications contain insertions from nearby DNA (within 200 bp) and can contain multiple donor sources--some distant--in single events. Although replication slippage is a plausible explanation for tandem duplications, the end homology required in such a model is most often absent and rarely is >5 bp. However, end homology is commonly longer than expected by chance. Such findings lead us to favor a model of patch-mediated double-strand-break creation followed by nonhomologous end-joining. Additionally, a striking bias toward 31-bp partially tandem duplications suggests that errors in nucleotide excision repair may be resolved via a similar, but distinct, pathway. In summary, the analysis of recent insertions in rice suggests multiple underappreciated causes of structural variation in eukaryotes.

Keywords: double-strand break repair; structural DNA variation.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • DNA Breaks, Double-Stranded*
  • DNA End-Joining Repair / genetics
  • DNA Repair / genetics
  • DNA, Plant / genetics*
  • DNA, Plant / metabolism
  • Evolution, Molecular
  • Genetic Variation
  • Models, Genetic
  • Mutagenesis, Insertional*
  • Oryza / genetics*
  • Oryza / metabolism
  • Tandem Repeat Sequences*

Substances

  • DNA, Plant