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直接长读可视化显示了GCH1基因拷贝数的隐藏变异和精确的扩展步骤

Shiwei Liu^1,2, Julia Zulawinska¹, Emily R Ebel³

¹Department of Biology, University of Virginia, Charlottesville, VA, USA.

|July 17, 2025

概括

在使用DHODH抑制剂选择的Plasmodium falciparum中观察到GTP循环酶I (GCH1) 基因拷贝数的增加. 长读测序揭示了隐藏的副本数变化,表明GCH1放大可能支持DHODH放大.

科学领域:

基因组学就是基因组学.
寄生虫学的寄生虫学
分子进化分子进化

背景情况:

基因拷贝数放大是生物体中关键的适应性策略.
杆菌使用放大用于药物耐药性和健身.
在用二基酸脱酶 (DHODH) 抑制剂选择的寄生虫中检测到GTP循环酶I (GCH1) 扩张.

研究的目的:

为了研究GCH1位点在响应DHODH抑制剂选择时的扩张.
用长读序列来描述GCH1安普利康的结构和变异.
探索GCH1和DHODH在Plasmodium falciparum中的放大之间的关系.

主要方法:

长读序列和单读可视化.
直接量化 GCH1 放大器的副本号码.
对片结构和边界序列的分析.
对历史 DHODH 抑制剂选择数据的评估.

主要成果:

选择的寄生虫线与父母线相比,呈现出更多的并联GCH1安普利康 (高达9) (3).
长读测序揭示了GCH1拷贝数 (3,5,或7个片) 中隐藏的寄生虫内部异质性.
在精确的2个单元步骤中,发生了GCH1安普利康扩张,并保留了富含AT的边界序列.
具有扩展GCH1的寄生虫系也在一个单独的染色体上拥有DHODH片.
对于 DHODH 抑制剂耐药性而言,GCH1 放大不是必不可少的,但可能会促进 DHODH 位点放大.

结论:

长读测序有效地确定了以前未被检测到的基因拷贝数异质性.
双重定位和GCH1放大器的大小使单个长读检测成为可能.
观察到DHODH和GCH1拷贝数之间的积极关联.
需要进一步研究Plasmodium falciparum中胺和叶酸生物合成位点的适应性进化.

关键词:

副本数量变化的变化脱水酸盐脱水酶二氧化酸盐叶酸的生物合成在 GTP 循环氨酸酶 I 中.长读序列的测序方式疟疾:疟疾是一种疾病.牛津的纳米孔技术.原菌 (Plasmodium falciparum) 是一种有毒的病毒.皮里米丁生物合成单读可视化的可视化

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