title: Nonsense Mutation Inside Anthocyanidin Synthase Gene Controls Pigmentation in Yellow Raspberry (Rubus idaeusL.).
abstract: Yellow raspberry fruits have reduced anthocyanin contents and offer unique possibility to study the genetics of pigment biosynthesis in this important soft fruit. Anthocyanidin synthase (Ans) catalyzes the conversion of leucoanthocyanidin to anthocyanidin, a key committed step in biosynthesis of anthocyanins. Molecular analysis of theAnsgene enabled to identify an inactiveansallele in a yellow fruit raspberry ("Anne"). A 5 bp insertion in the coding region was identified and designated as ans+5. The insertion creates a premature stop codon resulting in a truncated protein of 264 amino acids, compared to 414 amino acids wild-type ANS protein. This mutation leads to loss of function of the encoded protein that might also result in transcriptional downregulation ofAnsgene as a secondary effect, i.e., nonsense-mediated mRNA decay. Further, this mutation results in loss of visible and detectable anthocyanin pigments. Functional characterization of raspberryAns/ansalleles via complementation experiments in theArabidopsis thaliana ldoxmutant supports the inactivity of encoded protein through ans+5and explains the proposed block in the anthocyanin biosynthetic pathway in raspberry. Taken together, our data shows that the mutation insideAnsgene in raspberry is responsible for yellow fruit phenotypes.
authors.affiliation: Research and Innovation Center, Fondazione Edmund Mach San Michele all'Adige, Italy.
authors.forename: Muhammad Z
authors.initials: MZ
authors.lastname: Rafique
authors.affiliation: Research and Innovation Center, Fondazione Edmund Mach San Michele all'Adige, Italy.
authors.forename: Elisabete
authors.initials: E
authors.lastname: Carvalho
authors.affiliation: Genome Research, Department of Biology, Bielefeld University Bielefeld, Germany.
authors.forename: Ralf
authors.initials: R
authors.lastname: Stracke
authors.affiliation: Research and Innovation Center, Fondazione Edmund Mach San Michele all'Adige, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Palmieri
authors.affiliation: Research and Innovation Center, Fondazione Edmund Mach San Michele all'Adige, Italy.
authors.forename: Lorena
authors.initials: L
authors.lastname: Herrera
authors.affiliation: Research and Innovation Center, Fondazione Edmund MachSan Michele all'Adige, Italy; Department of Developmental Genetics, Centre for Plant Molecular Biology, University of TübingenTübingen, Germany.
authors.forename: Antje
authors.initials: A
authors.lastname: Feller
authors.affiliation: Research and Innovation Center, Fondazione Edmund Mach San Michele all'Adige, Italy.
authors.forename: Mickael
authors.initials: M
authors.lastname: Malnoy
authors.affiliation: Research and Innovation Center, Fondazione Edmund Mach San Michele all'Adige, Italy.
authors.forename: Stefan
authors.initials: S
authors.lastname: Martens
keywords: anthocyanidin synthase; complementation; mutation; pathway block; pigmentation; yellow raspberry