The amino acid changes underlying physiological evolution in eukaryotes

Virginie Courtier-Orgogozo¹, Mariam Noor¹ and Arnaud Martin²

¹Institut Jacques Monod – CNRS UMR7592 – Université Paris Diderot, France. ²The George Washington University, Washington, DC, USA

Gephebase (www.gephebase.org) is a manually curated database compiling published data about the genes and the mutations responsible for evolutionary changes in all eukaryotes (mostly animals, yeasts and plants). Gephebase contains more than 1600 entries. Each entry corresponds to a phenotypic variation associated with one or several linked mutations in an identified gene, supported by strong experimental evidence (linkage mapping, association mapping, functional validation, etc.). We examine here the distribution of nucleotide changes (codon position, transition/transversion ratio) and of amino acid changes in Gephebase (>700 entries) and we investigate whether these distributions are influenced by mutation rates and by the type of associated phenotypic traits, with a particular focus on comparative physiology. Our results can help identify candidate amino acid changes for the mapping of genetic loci associated with physiological changes and for the design of gene editing targets.