1吉林农业大学园艺学院,长春 130118;2吉林省农业科学院(中国农业科技东北创新中心)果树研究所,公主岭 136100;3延边大学农学院,吉林延吉 133002
研究方向为果树种质资源,E-mail: ydh333m@163.com
梁英海,研究方向为果树种质资源,E-mail: yinghailiang365@163.com
赵晨辉,研究方向为果树种质资源,E-mail: 365308770@qq.com
国家自然科学基金联合基金(U22A20490);农业农村部农业种质资源普查收集、保护监督服务项目(22250291);科技部、财政部国家科技资源共享服务平台项目(NHGRC2025-NH09)
1College of Horticulture, Jilin Agricultural University, Changchun 130118;2Institute of Pomology, Jilin Academy of Agricultural Sciences (Northeast Agricultural Research Center of China), Gongzhuling 136100;3College of Agriculture, Yanbian University, Yanji 133002, Jilin
Joint Fund of the National Natural Science Foundation of China(U22A20490); Project of Agricultural Germplasm Resources Survey, Collection, Conservation and Supervision Service, Ministry of Agriculture and Rural Affairs(22250291); National Science and Technology Resource Sharing Service Platform Program, Ministry of Science and Technology and Ministry of Finance(NHGRC2025-NH09)
果实大小是苹果(Malus domestica Borkh.)重要的农艺性状之一,直接影响其商品价值和市场竞争力。以262份寒地小苹果种质资源为研究对象,在2023年及2024年分别测定果实单果重、纵径和横径等表型性状,分析果实大小遗传多样性,利用基因组重测序数据,通过全基因组关联分析(GWAS)、基因本体(GO)功能注释、基因结构域注释和转录组表达分析,挖掘寒地小苹果果实大小候选基因。结果表明,寒地小苹果单果重、果实纵径、果实横径和果形指数4个性状均在供试群体中呈现广泛的连续变异,在不同年份均服从正态分布或近正态分布,其中单果重变异系数最高,为89.47%~94.30%。基于GWAS线性混合模型(LMM)分析,在-log10(P)>7显著性阈值下,2023年在2号染色体上检测到3个与单果重显著关联的SNP位点,其表型贡献率在9.44%~9.67%之间;2024年同样在2号染色体上,检测到5个与单果重显著关联的SNP位点,表型贡献率在9.54%~11.95%之间。在与单果重显著关联的6个SNP位点两侧50 kb区间,共鉴定出49个与单果重相关的候选基因。候选基因GO基因功能分析表明,21个基因参与细胞过程,其中,6个基因涉及激素代谢过程,有2个基因(Mbac02g02195和Mbac02g02184)参与油菜素甾醇代谢过程;Mbac02g02221参与花和果实发育,Mbac02g02208与果实发育有关,Mbac02g02554与细胞分裂、细胞分化有关。通过候选基因Pfam注释,识别出2个候选基因的保守结构域(YABBY和Cytochrome P450 superfamily结构域)与果实发育功能相关。49个候选基因表达分析表明,在山定子中,7个基因在花中高表达,10个基因在果实中高表达,6个基因(Mbac02g02190、Mbac02g02200、Mbac02g02203、Mbac02g02205、Mbac02g02206、Mbac02g02275)在花和果实中均高表达;在6份寒地小苹果资源果实中,有16个基因高表达(Mbac02g02186、Mbac02g02187、Mbac02g02190、Mbac02g02200、Mbac02g02558、Mbac02g02206、Mbac02g02554等)。本研究从全基因组水平挖掘了寒地小苹果果实大小相关基因,为深入研究苹果果实大小基因功能及其利用提供了候选基因与数据参考。
Fruit size is one of the key agronomic traits of apple (Malus domestica Borkh), directly impacting its commercial value and market competitiveness. This study measured the single-fruit weight, fruit length, and fruit width of 262 cold-region small-sized apple germplasm resources in 2023 and 2024, then fruit size genetic diversity was analyzed. The genomic resequencing data of 262 apple germplasm resources were used and the fruit size candidate genes of small-sized apples in cold region were identified by genome-wide association studies (GWAS), Gene Ontology (GO) functional annotation, and transcriptome expression analysis. The study indicates that single fruit weight, longitudinal diameter of fruit, transverse diameter of fruit and fruit shape index of the cold-resistant small apple all showed extensive continuous variation in the tested population. Trait distributions followed normal or near-normal distributions in different years. Among them, the coefficient of variation of fruit weight is highest (89.47%-94.30%).Based on the analysis of GWAS linear mixed model (LMM), three SNPs loci were significantly associated with single fruit weight under the significance threshold of -log10(P)>7, which were detected on Chromosome 2 in Malus baccata genome in 2023, and the phenotype contribution rates of SNPs loci ranged from 9.44% to 9.67%. In 2024, five SNPs loci were significantly associated with single fruit weight, which were also detected on Chromosome 2, and the phenotype contribution rates range from 9.54% to 11.95%. In the 50 kb intervals on both sides of the eight SNP loci significantly associated with single fruit weight, a total of 49 candidate genes related to single fruit weight were identified. GO gene function analysis of the candidate genes indicated that 21 genes were involved in cellular processes, among which 6 genes were related to hormone metabolic processes, and 2 genes (Mbac02g02195 and Mbac02g02184) were involved in brassinosteroid metabolic processes. Mbac02g02221 was associated with flower and fruit development, Mbac02g02208 was related to fruit development, and Mbac02g02554 was related to cell division and cell differentiation. Through Pfam annotation (YABBY and Cytochrome P450 superfamily domains) of the candidate genes, two conserved domains of the candidate genes were identified to be related to fruit development functions. Expression analysis of 49 candidate genes showed that among the 17 genes, 7 were highly expressed in the flowers and 10 were highly expressed in the fruits of Malus baccata. Among these 17 genes, 6 genes (Mbac02g02190, Mbac02g02200, Mbac02g02203, Mbac02g02205, Mbac02g02206, and Mbac02g02275) were highly expressed in both flowers and fruits. In the fruits of 6 cold-resistant crabapple resources, 16 genes were highly expressed(Mbac02g02186, Mbac02g02187, Mbac02g02190,Mbac02g02200, Mbac02g02558, Mbac02g02206, Mbac02g02554,among others). This study identified candidate genes related to the size of small-sized apple in cold-region through the whole-genome level, providing candidate genes and data references for in-depth research on the function and utilization of apple’s fruit size genes.
姚冬涵,王利新,王珊珊,等.寒地小苹果果实大小遗传多样性与候选基因挖掘[J].植物遗传资源学报,2026,27(4):746-762.
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