Changes in genome content generated via segregation of non-allelic homologs

Plant J. 2012 Nov;72(3):390-9. doi: 10.1111/j.1365-313X.2012.05087.x. Epub 2012 Aug 30.


A careful analysis of two maize recombinant inbred lines (RILs) relative to their inbred parents revealed the presence of several hundred apparently de novo copy number variants (CNVs). These changes in genome content were validated via both PCR and whole exome-array capture-and-sequencing experiments. One hundred and eighty-five genomic regions, which overlap with 38 high-confidence genes, exhibited apparently de novo copy number variation (CNV) in these two RILs and in many instances the same apparently de novo CNV events were observed in multiple RILs. Further analyses revealed that these recurrent apparently de novo CNVs were caused by segregation of single-copy homologous sequences that are located in non-allelic positions in the two parental inbred lines. F(1) individuals derived from these inbred lines will be hemizygous for each of these non-allelic homologs but RIL genotypes will contain these sequences at zero, one or two genomic loci. Hence, the segregation of non-allelic homologs may contribute to transgressive segregation. Indeed, statistical associations between phenotypic quantitative trait loci and genomic losses were observed for two of 14 tested pairs of non-allelic homologs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosome Segregation / genetics*
  • Comparative Genomic Hybridization
  • DNA Copy Number Variations / genetics*
  • DNA, Plant / genetics*
  • Exome
  • Exons
  • Gene Dosage / genetics
  • Genome, Plant / genetics*
  • Genotype
  • Models, Genetic
  • Oligonucleotide Array Sequence Analysis
  • Phenotype
  • Quantitative Trait Loci
  • Zea mays / genetics*


  • DNA, Plant