小柯机器人

中国农业大学Jinsheng Lai团队完成了玉米基因组中完整的端粒到端粒（T2T）组装。该研究于2023年6月15日发表于国际学术期刊《自然—遗传学》杂志上。

通过产生深度覆盖的超长牛津纳米孔技术（ONT）和PacBio HiFi读数，研究人员实现了完整的玉米基因组组装，并且每个染色体完全在一个重叠群中。2，178.6 Mb T2T Mo17基因组的基本精度超过99.99%，揭示了基因组所有重复区域的结构特征。由连续的胸腺嘧啶-腺嘌呤-鸟嘌呤（TAG）三核苷酸组成的几个超长简单序列重复阵列高达235 kb。26.8 Mb整个核仁组织区域的组装与2，974个45S rDNA拷贝揭示了rDNA复制和转座子插入具有极其复杂的模式。

此外，所有十个着丝粒的完整组装使研究人员能够精确地剖析富含CentC和低CentC含量着丝粒的重复组成。完整的Mo17基因组组装表明在理解高等植物基因组高度复杂重复区域方面迈出了重要一步。

研究人员表示，得到完整的端粒到端粒组装基因组一直是基因组研究的长期目标。

附：英文原文

Title: A complete telomere-to-telomere assembly of the maize genome

Author: Chen, Jian, Wang, Zijian, Tan, Kaiwen, Huang, Wei, Shi, Junpeng, Li, Tong, Hu, Jiang, Wang, Kai, Wang, Chao, Xin, Beibei, Zhao, Haiming, Song, Weibin, Hufford, Matthew B., Schnable, James C., Jin, Weiwei, Lai, Jinsheng

Issue&Volume: 2023-06-15

Abstract: A complete telomere-to-telomere (T2T) finished genome has been the long pursuit of genomic research. Through generating deep coverage ultralong Oxford Nanopore Technology (ONT) and PacBio HiFi reads, we report here a complete genome assembly of maize with each chromosome entirely traversed in a single contig. The 2,178.6Mb T2T Mo17 genome with a base accuracy of over 99.99% unveiled the structural features of all repetitive regions of the genome. There were several super-long simple-sequence-repeat arrays having consecutive thymine–adenine–guanine (TAG) tri-nucleotide repeats up to 235kb. The assembly of the entire nucleolar organizer region of the 26.8Mb array with 2,974 45S rDNA copies revealed the enormously complex patterns of rDNA duplications and transposon insertions. Additionally, complete assemblies of all ten centromeres enabled us to precisely dissect the repeat compositions of both CentC-rich and CentC-poor centromeres. The complete Mo17 genome represents a major step forward in understanding the complexity of the highly recalcitrant repetitive regions of higher plant genomes.

DOI: 10.1038/s41588-023-01419-6

Source: https://www.nature.com/articles/s41588-023-01419-6

Nature Genetics：《自然—遗传学》，创刊于1992年。隶属于施普林格·自然出版集团，最新IF：41.307
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