Identification of regulatory genes involved in central metabolism using Genome Wide Association and Knock-Out analysis

FUSARI, CORINA M.; KOOKE, RIK; ENKE, BEATRICE; KROHN, NICOLE; HOEHNE, MELANIE; KEURENTJES, JOOST J. B.; SULPICE, RONAN; STITT, MARK

Heidelberg

Congreso; 9th TNAM Meeting; 2014

Universitaet Heidelberg, EMBL, COS Heidelberg

Enzymes constitute the metabolic machinery for primary carbon and nitrogen metabolism, which provides building blocks for growth. Analysis of genetic diversity for enzyme activities offers a powerful approach to identify genes underlying the metabolism regulatory network. Thus, we performed Genome Wide Association (GWA) analyses on circa 360 Arabidopsis accessions for 21 enzyme activities and 13 metabolites in two independent experiments. A detailed comparison between both experiments allowed us to select for SNPs that showed high LOD-score associations and were confirmed in both experiments. Some candidate SNPs co-localized with coarse-mapped QTL in the Ler x Cvi biparental population (e.g. acid Invertase and UGPase). In addition, many strongly associated SNPs were in trans to enzyme structural genes, suggesting that they represent trans-regulatory QTL. GWAs validation was carried out through analyses with a panel of 79 Knock-Out lines. The analyses confirmed for several genes that they are involved in the regulation of enzyme and/or metabolite levels in central metabolism. The present study provides the highest defined QTL dataset for primary metabolism enzymes to date and break new ground in understanding the genetic regulation of central metabolism.