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Updated: May 9, 2025

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可转移的元素和异色区域在野生类型C. elegans的基因组中被丰富为结构变异和序列分歧

Zachary D Bush¹, Alice F S Naftaly¹, Devin Dinwiddie¹

¹Institute of Molecular Biology, Department of Biology, University of Oregon, Eugene, OR 97403, USA.

G3 (Bethesda, Md.)

|April 30, 2025

概括

基因组结构变异和可转移的元素推动了基因组的进化. 长读测序揭示了Caenorhabditis elegans菌株之间的广泛分歧和TE运动,突出了遗传变异的热点.

科学领域:

基因组学就是基因组学.
进化生物学进化生物学
分子生物学分子生物学

背景情况:

基因组结构变异 (SV) 和可移植元素 (TE) 影响基因组进化,基因表达和疾病风险.
长读测序推进了新的基因组组装和检测大,重复的序列变异.
凯诺哈比迪斯菌株 (布里斯托尔和夏威夷) 是研究遗传变异的模型.

研究的目的:

在N2布里斯托尔和CB4856夏威夷C. elegans菌株中全面检测SV和TE.
描述这两个野生分离物之间的序列分歧和TE动态.
为了确定易于变异积累的基因组区域.

主要方法:

使用长读和短读测序为N2布里斯托尔和CB4856夏威夷菌株生成de novo基因组组件.
标注单核酸多态 (SNPs),小插入删除 (indels) 和结构变化 (SVs).
定义了可转移元素 (TEs) 在菌株之间的位置和移动.

主要成果:

标注了超过3.1Mb的序列分歧,包括246,298个SNP,73,789个小indel和4,334个SVs.
在N2布里斯托尔基因组中,已识别的Tc1/mariner家族TEs在N2布里斯托尔基因组中比N2布里斯托尔基因组更多20.6%.
发现Zator元素是最丰富和最流动的TE家族,观察到9个染色体内和8个染色体间的TE运动.

结论:

基因组变异丰富于TE序列和异色彩区域,特别是在生殖系.
大规模的重复区域容易累积遗传变异和结构变化.
这项研究提供了对C. elegans中SVs和TE的全面分析,促进了对基因组进化的理解.

关键词:

这里是C. elegans.这是WormBase的基础.遗传漂移是一种遗传漂移.基因组组装组合的基因组.基因组稳定性的基因组稳定性参考基因组是指基因组中的基因.序列变化的变化.转位子转位子整个基因组的测序.

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