德国马克斯·普朗克植物育种研究所Raphael Mercier等研究人员合作发现，69个拟南芥品种的泛基因组揭示全球物种范围内的保守基因组结构。相关论文于2024年4月11日在线发表在《自然—遗传学》杂志上。

研究人员表示，拟南芥虽然最初主要是一个功能生物学系统，但由于其广泛的地理分布和对不同环境的适应性，已发展成为群体基因组学的一个强大模型。

研究人员展示了来自全球物种范围的69个品种基因组的染色体级基因组组装。研究人员发现，即使在地理位置和遗传上相距甚远的品种之间，基因组的共线性也非常一致。在染色体臂上，兆碱基规模的重排非常罕见，通常只出现在一个品种中。这表明核型是准固定的，染色体臂上的重排是反选择的。中心粒区域显示出较高的结构动态性，核心中心粒的差异占基因组大小变化的大部分。

泛基因组分析发现了32986个不同的基因家族，其中60%存在于所有品种中，40%似乎是可有可无的，包括18%只存在于单一品种中，这表明基因多样性尚未被开发。这69个新的拟南芥基因组组装将为未来的遗传研究提供有力支持。

附：英文原文

Title: A pan-genome of 69 Arabidopsis thaliana accessions reveals a conserved genome structure throughout the global species range

Author: Lian, Qichao, Huettel, Bruno, Walkemeier, Birgit, Mayjonade, Baptiste, Lopez-Roques, Cline, Gil, Lisa, Roux, Fabrice, Schneeberger, Korbinian, Mercier, Raphael

Issue&Volume: 2024-04-11

Abstract: Although originally primarily a system for functional biology, Arabidopsis thaliana has, owing to its broad geographical distribution and adaptation to diverse environments, developed into a powerful model in population genomics. Here we present chromosome-level genome assemblies of 69 accessions from a global species range. We found that genomic colinearity is very conserved, even among geographically and genetically distant accessions. Along chromosome arms, megabase-scale rearrangements are rare and typically present only in a single accession. This indicates that the karyotype is quasi-fixed and that rearrangements in chromosome arms are counter-selected. Centromeric regions display higher structural dynamics, and divergences in core centromeres account for most of the genome size variations. Pan-genome analyses uncovered 32,986 distinct gene families, 60% being present in all accessions and 40% appearing to be dispensable, including 18% private to a single accession, indicating unexplored genic diversity. These 69 new Arabidopsis thaliana genome assemblies will empower future genetic research.

DOI: 10.1038/s41588-024-01715-9

Source: https://www.nature.com/articles/s41588-024-01715-9