Liang Yi-Ye, Liu Hui, Lin Qiong-Qiong, Shi Yong, Zhou Biao-Feng, Wang Jing-Shu, Chen Xue-Yan, Shen Zhao, Qiao Liang-Jing, Niu Jing-Wei, Ling Shao-Jun, Luo Wen-Ji, Zhao Wei, Liu Jian-Feng, Kuang Yuan-Wen, Ingvarsson Pär K, Guo Ya-Long, Wang Baosheng
State Key Laboratory of Plant Diversity and Specialty Crops, South China Botanical Garden, Chinese Academy of Sciences, Guangzhou, China.
Guangdong Provincial Key Laboratory of Applied Botany and Key Laboratory of National Forestry and Grassland Administration on Plant Conservation and Utilization in Southern China, South China Botanical Garden, Chinese Academy of Sciences, Guangzhou, China.
Mol Biol Evol. 2025 Apr 30;42(5). doi: 10.1093/molbev/msaf088.
The genetic base of local adaptation has been extensively studied in natural populations. However, a comprehensive genome-wide perspective on the contribution of structural variants (SVs) and adaptive introgression to local adaptation remains limited. In this study, we performed de novo assembly and annotation of 22 representative accessions of Quercus variabilis, identifying a total of 543,372 SVs. These SVs play crucial roles in shaping genomic structure and influencing gene expression. By analyzing range-wide genomic data, we identified both SNPs and SVs associated with local adaptation in Q. variabilis and Quercus acutissima. Notably, SV-outliers exhibit selection signals that did not overlap with SNP-outliers, indicating that SNP-based analyses may not detect the same candidate genes associated with SV-outliers. Remarkably, 29%-37% of candidate SNPs were located in a 250 kb region on chromosome 9, referred to as Chr9-ERF. This region contains 8 duplicated ethylene-responsive factor (ERF) genes, which may have contributed to local adaptation of Q. variabilis and Q. acutissima. We also found that a considerable number of candidate SNPs were shared between Q. variabilis and Q. acutissima in the Chr9-ERF region, suggesting a pattern of repeated selection. We further demonstrated that advantageous variants in this region were introgressed from western populations of Q. acutissima into Q. variabilis, providing compelling evidence that introgression facilitates local adaptation. This study offers a valuable genomic resource for future studies on oak species and highlights the importance of pan-genome analysis in understating mechanism driving adaptation and evolution.
局部适应的遗传基础在自然种群中已得到广泛研究。然而,从全基因组角度全面了解结构变异(SVs)和适应性渐渗对局部适应的贡献仍然有限。在本研究中,我们对22个栓皮栎代表性样本进行了从头组装和注释,共鉴定出543,372个SVs。这些SVs在塑造基因组结构和影响基因表达方面发挥着关键作用。通过分析广泛的基因组数据,我们在栓皮栎和麻栎中鉴定出了与局部适应相关的单核苷酸多态性(SNPs)和SVs。值得注意的是,SV异常值显示出与SNP异常值不重叠的选择信号,这表明基于SNP的分析可能无法检测到与SV异常值相关的相同候选基因。值得注意的是,29%-37%的候选SNPs位于9号染色体上一个250 kb的区域,称为Chr9-ERF。该区域包含8个重复的乙烯响应因子(ERF)基因,这可能有助于栓皮栎和麻栎的局部适应。我们还发现,栓皮栎和麻栎在Chr9-ERF区域共享了相当数量的候选SNPs,这表明存在重复选择的模式。我们进一步证明,该区域的有利变异从麻栎的西部种群渐渗到栓皮栎中,这为渐渗促进局部适应提供了有力证据。本研究为未来关于栎属物种的研究提供了宝贵的基因组资源,并强调了泛基因组分析在理解驱动适应和进化机制方面的重要性。