PMID- 28811336 OWN - NLM STAT- MEDLINE DCOM- 20180613 LR - 20220311 IS - 1532-2548 (Electronic) IS - 0032-0889 (Print) IS - 0032-0889 (Linking) VI - 175 IP - 2 DP - 2017 Oct TI - Catastrophic Unbalanced Genome Rearrangements Cause Somatic Loss of Berry Color in Grapevine. PG - 786-801 LID - 10.1104/pp.17.00715 [doi] AB - Grape (Vitis vinifera) color somatic variants that can be used to develop new grapevine cultivars occasionally appear associated with deletion events of uncertain origin. To understand the mutational mechanisms generating somatic structural variation in grapevine, we compared the Tempranillo Blanco (TB) white berry somatic variant with its black berry ancestor, Tempranillo Tinto. Whole-genome sequencing uncovered a catastrophic genome rearrangement in TB that caused the hemizygous deletion of 313 genes, including the loss of the functional copy for the MYB transcription factors required for anthocyanin pigmentation in the berry skin. Loss of heterozygosity and decreased copy number delimited interspersed monosomic and disomic regions in the right arm of linkage groups 2 and 5. At least 11 validated clustered breakpoints involving intrachromosomal and interchromosomal translocations between three linkage groups flanked the deleted fragments, which, according to segregation analyses, are phased in a single copy of each of the affected chromosomes. These hallmarks, along with the lack of homology between breakpoint joins and the randomness of the order and orientation of the rearranged fragments, are all consistent with a chromothripsis-like pattern generated after chromosome breakage and illegitimate rejoining. This unbalanced genome reshuffling has additional consequences in reproductive development. In TB, lack of sexual transmission of rearranged chromosomes associates with low gamete viability, which compromises fruit set and decreases fruit production. Our findings show that catastrophic genome rearrangements arise spontaneously and stabilize during plant somatic growth. These dramatic rearrangements generate new interesting phenotypes that can be selected for the improvement of vegetatively propagated plant species. CI - (c) 2017 American Society of Plant Biologists. All Rights Reserved. FAU - Carbonell-Bejerano, Pablo AU - Carbonell-Bejerano P AUID- ORCID: 0000-0002-7266-9665 AD - Instituto de Ciencias de la Vid y del Vino, Consejo Superior de Investigaciones Cientificas-Universidad de La Rioja-Gobierno de La Rioja, 26007 Logrono, Spain pablo.carbonell@icvv.es. FAU - Royo, Carolina AU - Royo C AUID- ORCID: 0000-0001-5067-882X AD - Instituto de Ciencias de la Vid y del Vino, Consejo Superior de Investigaciones Cientificas-Universidad de La Rioja-Gobierno de La Rioja, 26007 Logrono, Spain. FAU - Torres-Perez, Rafael AU - Torres-Perez R AD - Instituto de Ciencias de la Vid y del Vino, Consejo Superior de Investigaciones Cientificas-Universidad de La Rioja-Gobierno de La Rioja, 26007 Logrono, Spain. FAU - Grimplet, Jerome AU - Grimplet J AUID- ORCID: 0000-0002-3265-4012 AD - Instituto de Ciencias de la Vid y del Vino, Consejo Superior de Investigaciones Cientificas-Universidad de La Rioja-Gobierno de La Rioja, 26007 Logrono, Spain. FAU - Fernandez, Lucie AU - Fernandez L AUID- ORCID: 0000-0003-0006-658X AD - Unite Mixte de Recherche Biologie du Fruit et Pathologie, Institut National de la Recherche Agronomique, F-33140 Villenave d'Ornon, France. FAU - Franco-Zorrilla, Jose Manuel AU - Franco-Zorrilla JM AUID- ORCID: 0000-0001-6769-7349 AD - Centro Nacional de Biotecnologia, CNB-Consejo Superior de Investigaciones Cientificas, 28049 Madrid, Spain. FAU - Lijavetzky, Diego AU - Lijavetzky D AUID- ORCID: 0000-0003-4207-3067 AD - Instituto de Biologia Agricola de Mendoza, Consejo Nacional de Investigaciones Cientificas y Tecnicas-UNCuyo-FCA, M5528AHB Chacras de Coria, Argentina. FAU - Baroja, Elisa AU - Baroja E AD - Instituto de Ciencias de la Vid y del Vino, Consejo Superior de Investigaciones Cientificas-Universidad de La Rioja-Gobierno de La Rioja, 26007 Logrono, Spain. FAU - Martinez, Juana AU - Martinez J AD - Instituto de Ciencias de la Vid y del Vino, Consejo Superior de Investigaciones Cientificas-Universidad de La Rioja-Gobierno de La Rioja, 26007 Logrono, Spain. FAU - Garcia-Escudero, Enrique AU - Garcia-Escudero E AD - Instituto de Ciencias de la Vid y del Vino, Consejo Superior de Investigaciones Cientificas-Universidad de La Rioja-Gobierno de La Rioja, 26007 Logrono, Spain. FAU - Ibanez, Javier AU - Ibanez J AUID- ORCID: 0000-0002-6286-5638 AD - Instituto de Ciencias de la Vid y del Vino, Consejo Superior de Investigaciones Cientificas-Universidad de La Rioja-Gobierno de La Rioja, 26007 Logrono, Spain. FAU - Martinez-Zapater, Jose Miguel AU - Martinez-Zapater JM AUID- ORCID: 0000-0001-7217-4454 AD - Instituto de Ciencias de la Vid y del Vino, Consejo Superior de Investigaciones Cientificas-Universidad de La Rioja-Gobierno de La Rioja, 26007 Logrono, Spain. LA - eng PT - Journal Article DEP - 20170815 PL - United States TA - Plant Physiol JT - Plant physiology JID - 0401224 RN - 0 (Anthocyanins) SB - IM MH - Anthocyanins/*metabolism MH - Color MH - Fruit/genetics/physiology MH - *Gene Rearrangement MH - Genetic Linkage MH - Genome, Plant/*genetics MH - Loss of Heterozygosity/*genetics MH - Mutation MH - Phenotype MH - Pigmentation MH - Vitis/*genetics/physiology PMC - PMC5619900 EDAT- 2017/08/16 06:00 MHDA- 2018/06/14 06:00 PMCR- 2018/10/01 CRDT- 2017/08/17 06:00 PHST- 2017/05/31 00:00 [received] PHST- 2017/08/13 00:00 [accepted] PHST- 2017/08/16 06:00 [pubmed] PHST- 2018/06/14 06:00 [medline] PHST- 2017/08/17 06:00 [entrez] PHST- 2018/10/01 00:00 [pmc-release] AID - pp.17.00715 [pii] AID - PP2017RA00715R1 [pii] AID - 10.1104/pp.17.00715 [doi] PST - ppublish SO - Plant Physiol. 2017 Oct;175(2):786-801. doi: 10.1104/pp.17.00715. Epub 2017 Aug 15.