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短串联重复序列中的拷贝数变异通过邻近基因调控影响对虾生长性状

Copy Number Variations in Short Tandem Repeats Modulate Growth Traits in Penaeid Shrimp Through Neighboring Gene Regulation.

作者信息

Zhou Hao, Qiang Guangfeng, Xia Yan, Tan Jian, Fu Qiang, Luo Kun, Meng Xianhong, Chen Baolong, Chen Meijia, Sui Juan, Dai Ping, Li Xupeng, Liu Mianyu, Xing Qun, Kong Jie, Luan Sheng

机构信息

State Key Laboratory of Mariculture Biobreeding and Sustainable Goods, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao 266071, China.

Laboratory for Marine Fisheries Science and Food Production Processes, Qingdao Marine Science and Technology Center, Qingdao 266237, China.

出版信息

Animals (Basel). 2025 Jan 18;15(2):262. doi: 10.3390/ani15020262.

DOI:10.3390/ani15020262
PMID:39858262
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11758629/
Abstract

Penaeid shrimp, with its genomes enriched in short tandem repeats (STRs), presents an ideal model for studying the distribution and biological functions of STRs. In this study, we systematically identified and compared STRs across multiple species, confirming a significantly higher prevalence of STRs (26-32%) in penaeid shrimp, which is markedly higher than that observed in other species, such as mammals (1.3-2.1%) and plants (0.21-0.73%). Further analysis utilizing a cohort of 326 Pacific white shrimp revealed a total of 672,507 high-quality STRs evenly distributed across the genome, with a notably lower frequency of SNPs within these STR regions. Focusing on growth traits as a case study, we conducted a genome-wide association study (GWAS) and correlation analyses to identify the regulatory relationship of STRs on complex traits. We discovered 84 STRs that showed a significant association with body weight. Interestingly, eleven of these STRs, with 81% being composed of an A/T base, showed a significant linear correlation with body weight, revealing the key role of A/T-related STRs in shrimp weight regulation. For instance, a significant association and a negative correlation were found between the copy number of the STR [(A)n] at NW_020872788.1:580574 and body weight. The cytokinesis protein 7-like (LOC113800912) gene, which contains this STR in its splice region, exhibits differential expression associated with body weight variation. These findings introduce a model for STR copy number regulation in non-human species, illuminating the influence of STRs on growth traits. It offers a valuable framework for investigating complex traits and the biological functions of STRs in agricultural animals.

摘要

对虾基因组富含短串联重复序列(STR),是研究STR分布和生物学功能的理想模型。在本研究中,我们系统地鉴定并比较了多个物种中的STR,证实对虾中STR的发生率显著更高(26 - 32%),明显高于其他物种,如哺乳动物(1.3 - 2.1%)和植物(0.21 - 0.73%)。利用326只太平洋白虾的群体进行的进一步分析显示,基因组中均匀分布着总共672,507个高质量STR,这些STR区域内的单核苷酸多态性(SNP)频率显著更低。以生长性状为例,我们进行了全基因组关联研究(GWAS)和相关性分析,以确定STR对复杂性状的调控关系。我们发现84个STR与体重显著相关。有趣的是,其中11个STR(81%由A/T碱基组成)与体重呈显著线性相关,揭示了A/T相关STR在对虾体重调节中的关键作用。例如,在NW_020872788.1:580574处的STR [(A)n]拷贝数与体重之间存在显著关联和负相关。在其剪接区域包含该STR的胞质分裂蛋白7样(LOC113800912)基因,表现出与体重变化相关的差异表达。这些发现引入了一种非人类物种中STR拷贝数调控的模型,阐明了STR对生长性状的影响。它为研究农业动物的复杂性状和STR的生物学功能提供了一个有价值的框架。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/064b5f333478/animals-15-00262-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/d57b265798e9/animals-15-00262-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/81c35a2e0f3a/animals-15-00262-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/ea872c625afd/animals-15-00262-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/441481f5343f/animals-15-00262-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/064b5f333478/animals-15-00262-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/d57b265798e9/animals-15-00262-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/81c35a2e0f3a/animals-15-00262-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/ea872c625afd/animals-15-00262-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/441481f5343f/animals-15-00262-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4141/11758629/064b5f333478/animals-15-00262-g005.jpg

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本文引用的文献

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Improved genome assembly of the whiteleg shrimp Penaeus (Litopenaeus) vannamei using long- and short-read sequences from public databases.利用公共数据库中的长读和短读序列提高凡纳滨对虾基因组组装质量。
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Short tandem repeats bind transcription factors to tune eukaryotic gene expression.短串联重复序列结合转录因子来调节真核生物基因表达。
Science. 2023 Sep 22;381(6664):eadd1250. doi: 10.1126/science.add1250.
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A simple sequence repeats marker of disease resistance in shrimp and its application in selective breeding.
一种虾类抗病性的简单序列重复标记及其在选择性育种中的应用。
Front Genet. 2023 Jul 27;14:1144361. doi: 10.3389/fgene.2023.1144361. eCollection 2023.
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Cas9-mediated replacement of expanded CAG repeats in a pig model of Huntington's disease.Cas9 介导的亨廷顿病猪模型中扩展的 CAG 重复序列的替换。
Nat Biomed Eng. 2023 May;7(5):629-646. doi: 10.1038/s41551-023-01007-3. Epub 2023 Feb 16.
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Population-level genome-wide STR discovery and validation for population structure and genetic diversity assessment of Plasmodium species.人群水平全基因组 STR 发现和验证,用于评估疟原虫物种的种群结构和遗传多样性。
PLoS Genet. 2022 Jan 10;18(1):e1009604. doi: 10.1371/journal.pgen.1009604. eCollection 2022 Jan.
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30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?30 年的重复扩展障碍研究:我们学到了什么,还有哪些挑战?
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Simple sequence repeats drive genome plasticity and promote adaptive evolution in penaeid shrimp.简单序列重复驱动基因组可塑性并促进对虾的适应性进化。
Commun Biol. 2021 Feb 11;4(1):186. doi: 10.1038/s42003-021-01716-y.
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Patterns of de novo tandem repeat mutations and their role in autism.从头开始的串联重复突变模式及其在自闭症中的作用。
Nature. 2021 Jan;589(7841):246-250. doi: 10.1038/s41586-020-03078-7. Epub 2021 Jan 13.
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