Structural variation (SV) covers rearrangements and gains or losses of genomic DNA, including deletions, insertions, inversions and translocations; deletions and insertions are often referred to as copy number variants (CNVs). SV shapes genetic diversity and genome complexity and underlies important plant phenotypes. For example, copy number variation at GL7 contributes to grain size diversity in rice, and a retrotransposon insertion upstream of a MYB transcription factor controls the red color of blood oranges.
Beyond its effects on phenotype, SV plays an important role in adaptation to new environments and in disease resistance, and growing evidence suggests it is a primary driver of metabolite diversity. As a postdoc, I used whole-genome sequencing of a single natural population of teosinte, the wild relative of maize, to investigate the evolutionary consequences and functions of copy number variants.
