哪有情可长 (2024-04-30 22:30):
#paper doi:https://doi.org/10.1038/s41588-024-01715-9,Nature genetics, 11 April 2024. A pan-genome of 69 Arabidopsis thaliana accessions reveals a conserved genome structure throughout the global species range. 通过对来自全球不同地理起源的 72 个拟南芥种质进行SNP分析,确定了四个主要遗传群体:“欧洲”、“非洲”、“马德拉”和“亚洲”,以及三个“混合”种质。使用了长读取(PacBio HiFi,平均深度为 45×,和牛津纳米孔,平均深度为 67×)和短读取测序,结合参考导向的拼接和手动修正,为每个 72 个种质生成了基因组组装。69 个种质经确认为纯合子品系,为了解释基因组大小变异的潜在基因组特征,选择了最完整的 46 个组装,并分析了组装与基因组大小估计的比值以及着丝粒重复长度与着丝粒大小估计的比值。这些种质的组装大小范围从 130 到 148 Mb。着丝粒重复序列平均长度为 14 Mb,与组装大小高度相关。通过从个体组装的初始 TE 注释生成的 pan-TE 库注释了转座元件。TE 空间大小在基因组之间非常相似,长末端重复序列和 Helitrons 占据了最大的 TE 分数。拟南芥基因组大小变异主要由着丝粒重复长度主导,而 TE 只是次要贡献者。单个染色体的大小独立于彼此地演化。后续作者利用共线性分析,发现拟南芥的染色体臂存在高度的同源性,而在着丝粒附近存在大型的重排现象。后续对泛基因组进行基因家族分析,发现一些核心、软核心、可选和私有家族基因。
IF:31.700Q1 Nature genetics, 2024-May. DOI: 10.1038/s41588-024-01715-9 PMID: 38605175
A pan-genome of 69 Arabidopsis thaliana accessions reveals a conserved genome structure throughout the global species range
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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.
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