在Drosophila中,结构变异富含有害的可见表型
bioRxiv : the preprint server for biology
|September 2, 2025
概括
长读测序揭示了Drosophila复杂特征的关键驱动因素的结构变异 (SV). 这些隐藏的遗传变异显著影响生物的表型,特别是有害的表型.
科学领域:
- 基因组学
- 人口遗传学
- 发育生物学
背景情况:
- 基因组结构变异 (SVs) 对遗传变异有显著的贡献,但经常被短读序列遗漏.
- 尽管它们具有潜在的重要性,但SV在生物特征中的作用尚不清楚.
- 长读数测序技术可以更好地检测复杂的SV.
研究的目的:
- 通过长读测序来研究Drosophila melanogaster古典表型的分子基础.
- 确定表型变异的新型结构变异.
- 评估SVs对有害特征的贡献.
主要方法:
- 使用牛津纳米孔长读数生成了11个Drosophila melanogaster菌株的高度连续的de novo基因组组.
- 构建了一个泛基因图来绘制核酸分辨率SVs,包括复杂的重新排列.
- 使用CRISPR-Cas9验证了候选因果突变.
主要成果:
- 确定了15种表型的新候选因果突变和2种突变的新分子等位基因.
- 发现了各种SV,包括可转移的元素插入和重复,是Drosophila特定表型的基础 (例如,Ablp^eyD,plexus,Curved).
- 在已知的表型相关基因中发现了以前未被描述的SV,例如白色和黄色.
结论:
- 结构变异,特别是100bp以上的变异,在与Drosophila的表型变化相关的基因中不成比例地丰富.
- 在Drosophila中引起有害的可见表型方面,SVs起着重要的作用.
- 长读序列和泛基因组图是解剖复杂特征的遗传基础的强大工具.
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