Department of Genetics, University of São Paulo, "Luiz de Queiroz" College of Agriculture, Piracicaba 13418-900, Brazil.
Queensland Alliance for Agriculture and Food Innovation, University of Queensland, Brisbane 4072, Australia.
Genome Res. 2022 Feb;32(2):297-308. doi: 10.1101/gr.275904.121. Epub 2021 Dec 23.
Polyploidy is widespread in plants, allowing the different copies of genes to be expressed differently in a tissue-specific or developmentally specific way. This allele-specific expression (ASE) has been widely reported, but the proportion and nature of genes showing this characteristic have not been well defined. We now report an analysis of the frequency and patterns of ASE at the whole-genome level in the highly polyploid sugarcane genome. Very high depth whole-genome sequencing and RNA sequencing revealed strong correlations between allelic proportions in the genome and in expressed sequences. This level of sequencing allowed discrimination of each of the possible allele doses in this 12-ploid genome. Most genes were expressed in direct proportion to the frequency of the allele in the genome with examples of polymorphisms being found with every possible discrete level of dose from 1:11 for single-copy alleles to 12:0 for monomorphic sites. The rarer cases of ASE were more frequent in the expression of defense-response genes, as well as in some processes related to the biosynthesis of cell walls. ASE was more common in genes with variants that resulted in significant disruption of function. The low level of ASE may reflect the recent origin of polyploid hybrid sugarcane. Much of the ASE present can be attributed to strong selection for resistance to diseases in both nature and domestication.
多倍体在植物中广泛存在,允许不同的基因拷贝以组织特异性或发育特异性的方式表达不同。这种等位基因特异性表达(ASE)已被广泛报道,但表现出这种特征的基因的比例和性质尚未得到很好的定义。我们现在报告了对高度多倍体甘蔗基因组在全基因组水平上 ASE 频率和模式的分析。非常高深度的全基因组测序和 RNA 测序揭示了基因组和表达序列中等位比例之间的强相关性。这种测序水平允许在这个 12 倍体基因组中区分每个可能的等位基因剂量。大多数基因的表达与基因组中等位基因的频率成正比,在单拷贝等位基因的 1:11 到单态位点的 12:0 之间的每个可能离散剂量水平都发现了多态性的例子。在防御反应基因的表达中,以及在与细胞壁生物合成有关的一些过程中,ASE 更为罕见。ASE 更常见于导致功能显著中断的变异基因。ASE 的低水平可能反映了多倍体杂交甘蔗的近期起源。目前存在的许多 ASE 可以归因于对自然和驯化中疾病的强烈抗性选择。