Genetic analysis of metabolites in apple fruits indicates an mQTL hotspot for phenolic compounds on linkage group 16

S.A. Khan, P.Y.F.R.P. Chibon, R.C.H. de Vos, B.A. Schipper, A.E.J. Walraven, M.J. Beekwilder, T. van Dijk, H.J. Finkers, R.G.F. Visser, W.E. van de Weg, A.G. Bovy, A. Cestaro, R. Velasco, E. Jacobsen, H.J. Schouten

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47 Citations (Scopus)


Apple (Malus×domestica Borkh) is among the main sources of phenolic compounds in the human diet. The genetic basis of the quantitative variations of these potentially beneficial phenolic compounds was investigated. A segregating F(1) population was used to map metabolite quantitative trait loci (mQTLs). Untargeted metabolic profiling of peel and flesh tissues of ripe fruits was performed using liquid chromatography-mass spectrometry (LC-MS), resulting in the detection of 418 metabolites in peel and 254 in flesh. In mQTL mapping using MetaNetwork, 669 significant mQTLs were detected: 488 in the peel and 181 in the flesh. Four linkage groups (LGs), LG1, LG8, LG13, and LG16, were found to contain mQTL hotspots, mainly regulating metabolites that belong to the phenylpropanoid pathway. The genetics of annotated metabolites was studied in more detail using MapQTL(®). A number of quercetin conjugates had mQTLs on LG1 or LG13. The most important mQTL hotspot with the largest number of metabolites was detected on LG16: mQTLs for 33 peel-related and 17 flesh-related phenolic compounds. Structural genes involved in the phenylpropanoid biosynthetic pathway were located, using the apple genome sequence. The structural gene leucoanthocyanidin reductase (LAR1) was in the mQTL hotspot on LG16, as were seven transcription factor genes. The authors believe that this is the first time that a QTL analysis was performed on such a high number of metabolites in an outbreeding plant species.
Original languageEnglish
Pages (from-to)2895-2908
JournalJournal of Experimental Botany
Issue number8
Publication statusPublished - 2012


  • x-domestica borkh.
  • developing grape berries
  • quantitative trait loci
  • malus-pumila mill.
  • proanthocyanidin biosynthesis
  • flavonoid biosynthesis
  • mass-spectrometry
  • anthocyanidin reductase
  • microsatellite markers
  • cisgenic plants

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