Serra Octávio, de Sousa Rui Maia, Guimarães Joana Bagoin, Matos José, Vicente Patricia, de Sousa Miguel Leão, Simões Fernanda
Instituto Nacional de Investigação Agrária e Veterinária, I.P., Banco Português de Germoplasma Vegetal (BPGV), Quinta de S. José, S. Pedro de Merelim 4700-859 Braga, Portugal.
Instituto Nacional de Investigação Agrária e Veterinária, I.P., Estação Nacional de Fruticultura Vieira Natividade (ENFVN), Estrada de Leiria 2460-059 Alcobaça, Portugal.
Hortic Res. 2022 May 17;9:uhac111. doi: 10.1093/hr/uhac111. eCollection 2022.
Pears () are one of the most economically important fruits worldwide. The genus is characterized by a high degree of genetic variability between species and interspecific hybrids, and several studies have been performed to assess this variability for both cultivated and wild accessions. These studies have mostly been limited by the resolving power of traditional molecular markers, although in the recent past the availability of reference genome sequences or SNP arrays for pear have enhanced the capability of high-resolution genomics studies. These tools can also be applied to better understand the intra-varietal (or clonal) variability in pear. Here we report the first high resolution genomics analysis of a pear clonal population using whole genome sequencing (WGS). Results showed unique signatures for the accumulation of mutations and transposable element insertions in each clone, which are likely related to their history of propagation and cultivation. The nucleotide diversity remained low in the clonal collection with the exception of few genomic windows, suggesting that balancing selection may be occurring. These windows included mainly genes related to plant fertility. Regions with higher mutational load were partially associated with transcription factors, probably reflecting the distinctive phenotypes in the collection. The annotation of variants also revealed the theoretical disruption of relevant genes in pear. Taken together, the results from this study show that pear clones accumulate mutations differently, and that those mutations can play a role on pear phenotypes, meaning that the study of pear clonal populations can be relevant in genetic studies, mainly when comparing with traditional association studies.
梨是全球经济上最重要的水果之一。梨属的特点是物种间和种间杂种之间存在高度的遗传变异性,并且已经开展了多项研究来评估栽培种和野生种的这种变异性。尽管最近梨的参考基因组序列或SNP阵列的可用性提高了高分辨率基因组学研究的能力,但这些研究大多受到传统分子标记分辨能力的限制。这些工具也可用于更好地了解梨的品种内(或克隆)变异性。在此,我们报告了首次使用全基因组测序(WGS)对梨克隆群体进行的高分辨率基因组学分析。结果显示每个克隆中突变和转座元件插入积累的独特特征,这可能与它们的繁殖和栽培历史有关。除了少数基因组窗口外,克隆群体中的核苷酸多样性仍然较低,这表明可能正在发生平衡选择。这些窗口主要包括与植物育性相关的基因。具有较高突变负荷的区域部分与转录因子相关,这可能反映了群体中的独特表型。变异注释还揭示了梨中相关基因的理论破坏。综上所述,本研究结果表明梨克隆积累突变的方式不同,并且这些突变可对梨的表型产生影响,这意味着梨克隆群体的研究在遗传研究中可能具有相关性,特别是在与传统关联研究进行比较时。