Castanera Raúl, de Tomás Carlos, Ruggieri Valentino, Vicient Carlos, Eduardo Iban, Aranzana Maria José, Arús Pere, Casacuberta Josep M
Centre for Research in Agricultural Genomics, CRAG (CSIC-IRTA-UAB-UB), Campus UAB, 08193, Cerdanyola del Vallès, Barcelona, Spain.
Biomeets Consulting, Carrer d'Àlaba 61, 08005, Barcelona, Spain.
Hortic Res. 2024 Apr 9;11(6):uhae106. doi: 10.1093/hr/uhae106. eCollection 2024 Jun.
The vast majority of traditional almond varieties are self-incompatible, and the level of variability of the species is very high, resulting in a high-heterozygosity genome. Therefore, information on the different haplotypes is particularly relevant to understand the genetic basis of trait variability in this species. However, although reference genomes for several almond varieties exist, none of them is phased and has genome information at the haplotype level. Here, we present a phased assembly of genome of the almond cv. Texas. This new assembly has 13% more assembled sequence than the previous version of the Texas genome and has an increased contiguity, in particular in repetitive regions such as the centromeres. Our analysis shows that the 'Texas' genome has a high degree of heterozygosity, both at SNPs, short indels, and structural variants level. Many of the SVs are the result of heterozygous transposable element insertions, and in many cases, they also contain genic sequences. In addition to the direct consequences of this genic variability on the presence/absence of genes, our results show that variants located close to genes are often associated with allele-specific gene expression, which highlights the importance of heterozygous SVs in almond.
绝大多数传统杏仁品种是自交不亲和的,且该物种的变异水平非常高,导致基因组杂合度很高。因此,关于不同单倍型的信息对于理解该物种性状变异的遗传基础尤为重要。然而,尽管存在多个杏仁品种的参考基因组,但它们都没有进行分型,也没有单倍型水平的基因组信息。在此,我们展示了杏仁品种“Texas”基因组的分型组装。这个新的组装版本比“Texas”基因组的先前版本多了13%的组装序列,且连续性有所提高,尤其是在着丝粒等重复区域。我们的分析表明,“Texas”基因组在单核苷酸多态性(SNP)、短插入缺失和结构变异水平上都具有高度杂合性。许多结构变异是杂合转座元件插入的结果,而且在很多情况下,它们还包含基因序列。除了这种基因变异对基因存在与否的直接影响外,我们的结果还表明,位于基因附近的变异通常与等位基因特异性基因表达相关,这突出了杏仁中杂合结构变异的重要性。