Abstract
Understanding of phenotypes and their genetic basis is a major focus in current plant biology. Large amounts of phenotype data are being generated, both for macroscopic phenotypes such as size or yield, and for molecular phenotypes such as expression levels and metabolite levels. More insight in the underlying genetic and molecular mechanisms that influence phenotypes will enable a better understanding of how various phenotypes are related to each other. This will be a major step forward in understanding plant biology, with immediate value for plant breeding and academic plant research. Currently the genetic basis of most phenotypes remains however to be discovered, and the relatedness of different traits is unclear. We here present a novel approach to connect phenotypes to underlying biological processes and molecular functions. These connections define similarities between different types of phenotypes. The approach starts by using Quantitative Trait Locus (QTL) data, which are abundantly available for many phenotypes of interest. Overrepresentation analysis of gene functions based on Gene Ontology term enrichment across multiple QTL regions for a given phenotype, be it macroscopic or molecular, results in a small set of biological processes and molecular functions for each phenotype. Subsequently, similarity between different phenotypes can be defined in terms of these gene functions. Using publicly available rice data as example, a close relationship with defined molecular phenotypes is demonstrated for many macroscopic phenotypes. This includes for example a link between 'leaf senescence' and 'aspartic acid', as well as between 'days to maturity' and 'choline'. Relationships between macroscopic and molecular phenotypes may result in more efficient marker-assisted breeding and are likely to direct future research aimed at a better understanding of plant phenotypes.