近日，北京农林科学院董宁光团队发现，综合基因组学和转录组学分析揭示了山楂果皮颜色和种子硬度多样性的遗传和分子机制。这一研究成果于2025年4月10日发表在国际顶尖学术期刊《遗传学报》上。

本文报道了硬籽黄皮品种“金如意”（JRY）和软籽红皮品种“”软籽”（RZ）两个品种的高质量染色体尺度基因组。组装的基因组包含17条染色体，大小分别为809.1 Mb和760.5 Mb， JRY和RZ的支架N50值分别为48.5 Mb和46.8 Mb。比较基因组分析确定了360 - 380万个单核苷酸多态性，850 - 930万个插入/缺失，以及大约30 Mb的存在/缺失差异。

通过整合差异表达基因和积累的代谢物，研究人员筛选出与山楂果皮颜色和种子硬度差异相关的候选基因CpMYB114和CpMYB44。功能验证证实，CpMYB114-CpANS调控山楂果皮中花青素的生物合成，导致观察到的果皮颜色变化。CpMYB44-CpCOMT在JRY中显著上调，并被证实促进木质素的生物合成，导致种子硬度的差异。总的来说，该研究揭示了对山楂不同果皮色素沉积和种子硬度的新认识，为分子育种提供了丰富的依据。

研究人员表示，山楂果皮颜色和种子硬度是影响山楂经济价值的关键性状。

附：英文原文

Title: Integrated genomic and transcriptomic analyses reveal the genetic and molecular mechanisms underlying hawthorn peel color and seed hardness diversity

Author: Fengchao Jiang a, Ningguang Dong a

Issue&Volume: 2025/04/10

Abstract: Hawthorn (Crataegus pinnatifida) fruit peel color and seed hardness are key traits that significantly impact economic value. We present here the high-quality chromosome-scale genomes of two cultivars, including the hard-seed, yellow-peel C. pinnatifida “Jinruyi” (JRY) and the soft-seed, red-peel C. pinnatifida “Ruanzi” (RZ). The assembled genomes comprising 17 chromosomes are 809.1 Mb and 760.5 Mb in size, achieving scaffold N50 values of 48.5 Mb and 46.8 Mb for JRY and RZ, respectively. Comparative genomic analysis identifies 3.6–3.8 million single nucleotide polymorphisms, 8.5–9.3 million insertions/deletions, and approximately 30 Mb of presence/absence variations across different hawthorn genomes. Through integrating differentially expressed genes and accumulated metabolites, we filter candidate genes CpMYB114 and CpMYB44 associated with differences in hawthorn fruit peel color and seed hardness, respectively. Functional validation confirms that the CpMYB114-CpANS regulates anthocyanin biosynthesis in hawthorn peels, contributing to the observed variation in peel color. CpMYB44-CpCOMT is significantly upregulated in JRY and is verified to promote lignin biosynthesis, resulting in the distinction in seed hardness. Overall, this study reveals the new insights into understanding of distinct peel pigmentation and seed hardness in hawthorn and provides an abundant resource for molecular breeding.

DOI: 10.1016/j.jgg.2025.04.001

Source: https://www.sciencedirect.com/science/article/abs/pii/S1673852725000979