Diploid genome assembly of the Malbec grapevine cultivar enables haplotype-aware analysis of transcriptomic differences underlying clonal phenotypic variation.

Calderón L, Carbonell-Bejerano P, Muñoz C, Bree L, Sola C, Bergamin D, Tulle W, Gomez-Talquenca S, Lanz C, Royo C, Ibáñez J, Martinez-Zapater JM, Weigel D, Lijavetzky D

Published: 8 March 2024 in Horticulture research
Keywords: No keywords in Pubmed
Pubmed ID: 38766532
DOI: 10.1093/hr/uhae080

To preserve their varietal attributes, established grapevine cultivars (Vitis vinifera L. ssp. vinifera) must be clonally propagated, due to their highly heterozygous genomes. Malbec is a France-originated cultivar appreciated for producing high-quality wines and is the offspring of cultivars Prunelard and Magdeleine Noire des Charentes. Here, we have built a diploid genome assembly of Malbec, after trio binning of PacBio long reads into the two haploid complements inherited from either parent. After haplotype-aware deduplication and corrections, complete assemblies for the two haplophases were obtained with a very low haplotype switch-error rate ( 25% of polymorphic regions. Gene annotation including RNA-seq transcriptome assembly and ab initio prediction evidence resulted in similar gene model numbers for both haplophases. The annotated diploid assembly was exploited in the transcriptomic comparison of four clonal accessions of Malbec that exhibited variation in berry composition traits. Analysis of the ripening pericarp transcriptome using either haplophases as a reference yielded similar results, although some differences were observed. Particularly, among the differentially expressed genes identified only with the Magdeleine-inherited haplotype as reference, we observed an over-representation of hypothetically hemizygous genes. The higher berry anthocyanin content of clonal accession 595 was associated with increased abscisic acid responses, possibly leading to the observed overexpression of phenylpropanoid metabolism genes and deregulation of genes associated with abiotic stress response. Overall, the results highlight the importance of producing diploid assemblies to fully represent the genomic diversity of highly heterozygous woody crop cultivars and unveil the molecular bases of clonal phenotypic variation.

Agencia Nacional de Promoción Científica y Tecnológica PICT2018-02381
Bilateral Argentine-Spain PCB-II (CONICET-CSIC): CONCEIT Res. N° 2952/14 MINECO BIO2017-86375-R
COST Action - INTEGRAPE CA17111
COST innovators grant Grapedia IG17111
EH2020-MSCA - research and innovation programme 797460
H2020-MSCA-RISE-2018: Vine and Wine Innovation through Scientific Exchange (vWISE) no grant ID listed
Max Planck Society no grant ID listed
MCIN/AEI/10.13039/501100011033) PID2020-120183RB-I00
MINCyT/ANPCyT (FONTAR)-CDTI (Fifth Bilateral Call Argentina-Spain for The Financing of Business Development and Technological Innovation Projects): Acronym IBEROGEN no grant ID listed