Genomic structural variation in Nebbiolo grapevines at the individual, clonal and cultivar levels

Maestri, S.; Gambino, G.; Minio, A.; Perrone, I.; Cosentino, E.; Giovannone, B.; Lopatriello, G.; Marcolungo, L.; Cantu, D.; Rossato, M.; Delledonne, M.; Calderon, L.

doi:10.1101/2020.10.27.357046

bioRxiv · 10.1101/2020.10.27.357046

Genomic structural variation in Nebbiolo grapevines at the individual, clonal and cultivar levels

Maestri, S.·Gambino, G.·Minio, A.·Perrone, I.·Cosentino, E.·Giovannone, B.·Lopatriello, G.·Marcolungo, L.·Cantu, D.·Rossato, M.·Delledonne, M.·Calderon, L.

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Abstract

Structural Variants (SVs) are a widely unexplored source of genetic variation, both due to methodological limitations and because they are generally associated to deleterious effects. However, with the advent of long-range genomic platforms, it has become easier to directly detect SVs. In the same direction, clonally propagated crops provide a unique opportunity to study SVs, offering a suitable genomic environment for their accumulation in heterozygosis. In particular, it has been reported that SVs generate drastic levels of heterozygosity in grapevines. Nebbiolo (Vitis vinifera L.) is a grapevine cultivar typical of north-western Italy, appreciated for its use in producing high-quality red wines. Here, we aimed to analyze the frequency of SVs in Nebbiolo, at three different organizational levels. For this purpose, we generated genomic data based on long-reads, linked-reads and optical mapping. We assembled a reference genome for this cultivar and compared two different clones, including V. vinifera reference genome (PN40024) in our comparisons. Our results indicate that SVs differentially occurring between Nebbiolo clones might be rare, while SVs differentiating haplotypes of the same individual are as abundant as those that occur differentially between cultivars.

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Maestri, S., Gambino, G., Minio, A., Perrone, I., Cosentino, E., Giovannone, B., Lopatriello, G., Marcolungo, L., Cantu, D., Rossato, M., Delledonne, M., Calderon, L.. 2020-10-27. Genomic structural variation in Nebbiolo grapevines at the individual, clonal and cultivar levels. https://doi.org/10.1101/2020.10.27.357046

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