近日，中国农业科学院教授马雄风及其课题组的最新研究提出了棉花的端粒到端粒基因组组装提供了对着丝粒进化和短季节适应的见解。该研究于2025年3月17日发表于国际一流学术期刊《自然—遗传学》杂志上。

在这里，课题组展示了精英品种中棉113的端粒-端粒组装。利用PacBio HiFi、Oxford Nanopore Technology （ONT）超长读测序和Hi-C等技术，它们的组装在连续性和完整性上超过了以前的基因组，分解了26个着丝粒区和52个端粒区、5S rDNA织体和核仁组织者区。在G. hirsutum特有的D08染色体上发现了一个系统发育新近的着丝粒重新定位，涉及一个祖先着丝粒的失活和一个独特的、基于卫星重复的着丝粒的形成。

基因组分析评估了关键农艺性状的有利等位基因聚集，并发现了一种早熟单倍型，该单倍型来源于陆地棉驯化早期进化的11 Mb着丝粒倒置。他们的研究揭示了短季节适应的基因组起源，可能涉及原始驯化形式的反转渗入，随后是现代育种计划中的单倍型分化。

研究人员表示，棉花（Gossypium hirsutum L.）是一种具有重要经济意义的重要异源多倍体作物。

附：英文原文

Title: A telomere-to-telomere genome assembly of cotton provides insights into centromere evolution and short-season adaptation

Author: Hu, Guanjing, Wang, Zhenyu, Tian, Zunzhe, Wang, Kai, Ji, Gaoxiang, Wang, Xingxing, Zhang, Xianliang, Yang, Zhaoen, Liu, Xuan, Niu, Ruoyu, Zhu, De, Zhang, Yuzhi, Duan, Lian, Ma, Xueyuan, Xiong, Xianpeng, Kong, Jiali, Zhao, Xianjia, Zhang, Ya, Zhao, Junjie, He, Shoupu, Grover, Corrinne E., Su, Junji, Feng, Keyun, Yu, Guangrun, Han, Jinlei, Zang, Xinshan, Wu, Zhiqiang, Pan, Weihua, Wendel, Jonathan F., Ma, Xiongfeng

Issue&Volume: 2025-03-17

Abstract: Cotton (Gossypium hirsutum L.) is a key allopolyploid crop with global economic importance. Here we present a telomere-to-telomere assembly of the elite variety Zhongmian 113. Leveraging technologies including PacBio HiFi, Oxford Nanopore Technology (ONT) ultralong-read sequencing and Hi-C, our assembly surpasses previous genomes in contiguity and completeness, resolving 26 centromeric and 52 telomeric regions, 5S rDNA clusters and nucleolar organizer regions. A phylogenetically recent centromere repositioning on chromosome D08 was discovered specific to G. hirsutum, involving deactivation of an ancestral centromere and the formation of a unique, satellite repeat-based centromere. Genomic analyses evaluated favorable allele aggregation for key agronomic traits and uncovered an early-maturing haplotype derived from an 11Mb pericentric inversion that evolved early during G. hirsutum domestication. Our study sheds light on the genomic origins of short-season adaptation, potentially involving introgression of an inversion from primitively domesticated forms, followed by subsequent haplotype differentiation in modern breeding programs.

DOI: 10.1038/s41588-025-02130-4

Source: https://www.nature.com/articles/s41588-025-02130-4