BMC Genomics · 2019 · 141 citations · 79 references
Life SciencesGeneticsPlant BiologyGenomicsGrapevine GeneticsPlant GeneticsGenome Evolution In PlantsGrapevine Clonal VariationGrapevine EpigeneticsGrapevine Genome SequencingGrapevine MutationDeleterious Mutation AccumulationDeleterious Mutation LoadGrapevine Genome VariationIntergenic RegionsReference Genome ComparisonSomatic Mutation In GrapevineSomatic MutationsTransition Mutations
BACKGROUND: Vegetatively propagated clones accumulate somatic mutations. The purpose of this study was to better appreciate clone diversity and involved defining the nature of somatic mutations throughout the genome. Fifteen Zinfandel winegrape clone genomes were sequenced and compared to one another using a highly contiguous genome reference produced from one of the clones, Zinfandel 03. RESULTS: Though most heterozygous variants were shared, somatic mutations accumulated in individual and subsets of clones. Overall, heterozygous mutations were most frequent in intergenic space and more frequent in introns than exons. A significantly larger percentage of CpG, CHG, and CHH sites in repetitive intergenic space experienced transition mutations than in genic and non-repetitive intergenic spaces, likely because of higher levels of methylation in the region and because methylated cytosines often spontaneously deaminate. Of the minority of mutations that occurred in exons, larger proportions of these were putatively deleterious when they occurred in relatively few clones. CONCLUSIONS: These data support three major conclusions. First, repetitive intergenic space is a major driver of clone genome diversification. Second, clones accumulate putatively deleterious mutations. Third, the data suggest selection against deleterious variants in coding regions or some mechanism by which mutations are less frequent in coding than noncoding regions of the genome.
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