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枣全基因组拷贝数变异图谱构建及黑斑病关联分析

Construction of a Genome-Wide Copy Number Variation Map and Association Analysis of Black Spot in Jujube.

作者信息

Luo Yujia, Luo Zhi, Wu Cuiyu, Wang Lihu, Yan Fenfen

机构信息

College of Horticulture and Forestry, Tarim University, Alar 843300, China.

The National-Local Joint Engineering Laboratory of High Efficiency and Superior-Quality Cultivation and Fruit Deep Processing Technology on Characteristic Fruit Trees, Southern Xinjiang Distinctive Foresty & Pomology Technology Innovation Center, Xinjiang Production and Construction Corps, Alar 843300, China.

出版信息

Plants (Basel). 2025 Sep 5;14(17):2782. doi: 10.3390/plants14172782.

DOI:10.3390/plants14172782
PMID:40941955
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12430529/
Abstract

Copy number variation (CNV) is a common source of genomic structural variation by altering the number of DNA fragments, which in turn affects phenotypic variation and gene expression levels. However, there have been no reports of CNV in Chinese jujube ( Mill.). In this study, we identified 16,570 CNVs from "Yuhong" × "Jiaocheng 5" and 140 hybrid progeny materials, of which 3607 CNVs were deletion type and 12,963 CNVs were duplication type. The distribution of CNVs in the Chinese jujube genome was systematically described, and the CNV genetic map of the whole genome level of the Chinese jujube hybrid offspring was constructed. Based on the field investigations, 13 individuals with severe black spot disease and no disease were analyzed for trait association. A total of 1837 CNVs were detected at the significant level of association, of which 1371 were duplication type and 466 were deletion type. And the GO (Gene Ontology) annotation item identified a systemic acquired resistance (SAR), and eight genes related to disease resistance were screened by the annotation. After validation by qPCR, these results further support the potential role in regulating black spot disease resistance. The constructed genome-wide CNV map of the hybrid progeny of Chinese jujube provides a new way of thinking for understanding the genetic basis of phenotypic variation of complex traits in Chinese jujube.

摘要

拷贝数变异(CNV)是基因组结构变异的常见来源,它通过改变DNA片段的数量来影响表型变异和基因表达水平。然而,关于枣(Mill.)的拷贝数变异尚无相关报道。在本研究中,我们从“玉红”ד交城5号”及其140个杂交后代材料中鉴定出16570个拷贝数变异,其中3607个拷贝数变异为缺失型,12963个拷贝数变异为重复型。系统地描述了拷贝数变异在中国枣基因组中的分布情况,并构建了枣杂交后代全基因组水平的拷贝数变异遗传图谱。基于田间调查,对13个患有严重黑斑病和未患病的个体进行了性状关联分析。在显著关联水平上共检测到1837个拷贝数变异,其中1371个为重复型,466个为缺失型。并且通过基因本体(GO)注释项目鉴定出一个系统获得性抗性(SAR),并通过注释筛选出8个与抗病性相关的基因。经qPCR验证后,这些结果进一步支持了其在调控黑斑病抗性方面的潜在作用。构建的枣杂交后代全基因组拷贝数变异图谱为理解枣复杂性状表型变异的遗传基础提供了新的思路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/f1b403071a73/plants-14-02782-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/2eec709cbe3f/plants-14-02782-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/8dfffc645dfb/plants-14-02782-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/c0367afcec54/plants-14-02782-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/d2fed4b867db/plants-14-02782-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/95b1bf617e00/plants-14-02782-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/80b44b5e93b6/plants-14-02782-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/4fd0c3c6ab64/plants-14-02782-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/f1b403071a73/plants-14-02782-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/2eec709cbe3f/plants-14-02782-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/8dfffc645dfb/plants-14-02782-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/c0367afcec54/plants-14-02782-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/d2fed4b867db/plants-14-02782-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/95b1bf617e00/plants-14-02782-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/80b44b5e93b6/plants-14-02782-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/4fd0c3c6ab64/plants-14-02782-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f82/12430529/f1b403071a73/plants-14-02782-g008.jpg

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本文引用的文献

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BMC Genomics. 2025 Jul 23;26(1):687. doi: 10.1186/s12864-025-11677-9.
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Detection of germline CNVs from gene panel data: benchmarking the state of the art.从基因检测板数据中检测种系拷贝数变异:对现有技术进行基准测试。
Brief Bioinform. 2024 Nov 22;26(1). doi: 10.1093/bib/bbae645.
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Genome-wide association testing beyond SNPs.超越单核苷酸多态性的全基因组关联测试。
Nat Rev Genet. 2025 Mar;26(3):156-170. doi: 10.1038/s41576-024-00778-y. Epub 2024 Oct 7.
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Genome Resequencing for Autotetraploid Rice and Its Closest Relatives Reveals Abundant Variation and High Potential in Rice Breeding.基因组重测序揭示同源四倍体水稻及其近缘种的丰富遗传多样性和在水稻育种中的巨大应用潜力。
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