南京农业大学吴俊课题组的最新研究揭示了单倍型解析的无间隙基因组组装提供了对亚洲和欧洲梨之间差异的见解。相关论文于2025年8月6日发表在《自然—遗传学》杂志上。

课题组人员构建了一个基于图的基因组，并确定了与农艺性状相关的结构变异。在亚洲和欧洲梨中发现了一个286 bp的启动子区域插入，以及PyACS1的差异表达，它们具有不同的果实软化特性。进一步的实验证实了PyACS1在水果软化中的作用。总的来说，这项研究提供了遗传变异的见解，并将促进梨的改良。

据悉，梨（梨属）是具有广泛遗传多样性的自交不亲和作物。高杂合性和技术限制导致参考基因组之间存在缺口。他们的研究展示了具有代表性的亚洲梨“砀山梨”（Pyrthem bretschneideri）和欧洲梨“Max Red Bartlett”（Pyrthem communis）的端粒到端粒、单倍型解析基因组。单倍型特异性基因与双等位基因在转座因子含量、甲基化模式和表达水平上存在显著差异。等位基因特异性表达分析表明，显性效应对梨果实品质的形成起着至关重要的作用。对362份材料的种群分析表明，种间渐渗增加了梨的多样性。

附：英文原文

Title: Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears

Author: Sun, Manyi, Cao, Beibei, Li, Kui, Li, Jiaming, Liu, Jun, Xue, Cheng, Gu, Kaidi, Xu, Shaozhuo, Li, Yuanjun, Li, Qingyu, Qu, Meina, Zhang, Mingyue, Wang, Runze, Liu, Yueyuan, Yao, Chenjie, He, Hang, Wu, Jun

Issue&Volume: 2025-08-06

Abstract: Pears (Pyrus spp.) are self-incompatible crops with broad genetic diversity. High heterozygosity and technical limitations result in gaps within reference genomes. Our study presents the telomere-to-telomere, haplotype-resolved genomes of a representative Asian pear ‘Dangshansuli’ (Pyrus bretschneideri) and a European pear ‘Max Red Bartlett’ (Pyrus communis). Haplotype-specific genes exhibited notable differences from biallelic genes regarding transposable content, methylation patterns and expression levels. Allele-specific expression analysis suggested that the dominance effect is vital in the formation of fruit quality of pears. Population analysis of 362 accessions revealed that interspecific introgression increased pear diversity. We constructed a graph-based genome and identified structural variations associated with agronomic traits. A 286-bp insertion in the promoter region, along with differential expression of PyACS1, was identified between Asian and European pears, which exhibit distinct fruit-softening characteristics. Further experiments demonstrated the role of PyACS1 in fruit softening. Overall, this study provided insights into genetic variation and will facilitate pear improvement.

DOI: 10.1038/s41588-025-02273-4

Source: https://www.nature.com/articles/s41588-025-02273-4