副本数的变化改变了本地和全球的突变耐受性
Grace Avecilla1,2, Pieter Spealman1,2, Julia Matthews1,2
1Department of Biology, New York University, New York, New York 10003, USA.
Genome research
|August 31, 2023
概括
酵母细胞中的复制数变异 (CNV) 适应细胞,但在丰富的介质中降低适应性. 这些基因组变化改变了突变耐受性,并产生了新的遗传相互作用,影响了基因组进化和疾病.
科学领域:
- 遗传学 遗传学 是一个
- 进化生物学 进化生物学
- 分子生物学分子生物学
背景情况:
- 复制数变异 (CNVs),涉及基因组重复和删除,是适应的关键驱动因素,但也可能导致疾病.
- 虽然积体效应得到了充分的研究,但不同大小和结构的CNV的影响仍然不太清楚.
研究的目的:
- 调查适应性CNVs在*Saccharomyces cerevisiae* (酵母菌) 的遗传和功能后果.
- 探索CNV如何影响突变耐受性和遗传相互作用.
主要方法:
- 酵母在限制谷氨胺的条件下进行实验进化,以获得适应性CNVs.
- 转体子突变发生,以评估CNV菌株的突变耐受性和全基因组遗传相互作用.
- 全球基因表达分析研究转录剂量补偿.
主要成果:
- 尽管在选择性环境中具有适应性的好处,但CNV在丰富媒体中降低了适应性.
- CNVs增加了突变目标大小和对放大基本基因的耐受性.
- 在CNV菌株中发现了新的基因相互作用,包括与*BMH1*,在CNV菌株中发现了新的基因相互作用.
- 大多数放大基因显示没有全球转录剂量补偿,但基因特异性补偿发生在~12%的病例中.
- 冠状病毒菌株缺乏与体积相关的转录特征.
结论:
- CNVs显著改变了本地和全球的突变耐受性.
- 这些发现对理解基因组进化和癌症等与CNV相关的疾病有意义.
- CNVs代表了基因组变异的独特机制,与异位积分相比,具有独特的功能后果.
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