分段重复介导的重新排列改变了小鼠基因组的格局
Eden R Francoeur1,2, Peter A Audano2, Ardian Ferraj2
1Department of Genetics and Genome Sciences, University of Connecticut Health Center, Farmington, CT 06030.
bioRxiv : the preprint server for biology
|August 8, 2025
概括
分段重复 (SDs) 驱动小鼠的遗传多样性. 这项研究绘制了各种小鼠菌株的SD介导的重排,揭示了显著的基因组变异和可转移元素的潜在作用.
科学领域:
- 基因组学就是基因组学.
- 进行比较基因组学.
- 哺乳动物遗传学 哺乳动物遗传学
背景情况:
- 分段重复 (SDs) 是哺乳动物基因组结构变异和表型多样性的关键驱动因素.
- 以前对小鼠基因组中SDs的研究受到短读测序技术的限制.
研究的目的:
- 在小鼠基因组中进行SD景观和SD介导的重新排列的全基因组特征.
- 为了识别和分析8个基因多样化的同胞生育小鼠菌株中SD介导的重组.
主要方法:
- 整合长时间读取的基因组组合,光学映射和基于k-mer的副本数分析.
- 分析了8种基因多样化的内生老鼠菌株.
主要成果:
- 识别了223个SD介导的重排,影响超过14Mb的序列.
- 发现了基因内容的实质性变异,影响免疫力,感官感知和基因调节位置 (例如,氨基酶基因群,KRAB-指基因).
- 在SD侧面观察年轻LINE-1可转移元素的丰富,这表明它在SD生成中发挥了作用.
结论:
- SDs对小鼠的基因组结构和物种内部变异有显著的贡献.
- 这些发现为了解生物医学研究的关键模型生物体中的基因组重组提供了宝贵的资源.
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