Diallel panel reveals a significant impact of low-frequency genetic variants on gene expression variation in yeast.
Diallel panel reveals a significant impact of low-frequency genetic variants on gene expression variation in yeast.
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Diallel panel 揭示了低频遗传变异对酵母基因表达变异的显着影响。
DOI：
10.1101/2023.07.21.550015
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Schacherer,Joseph
中科院分区：
文献类型：
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作者：
Tsouris,Andreas;Brach,Gauthier;Friedrich,Anne;Hou,Jing;Schacherer,Joseph
揭示基因表达变异的遗传来源对于更好地理解自然群体中表型多样性的起源至关重要。全基因组关联研究发现了数千种参与基因表达变异的变异，然而，检测到的变异只能解释部分遗传性。事实上，诸如低频和结构变异（SV）的变异在关联研究中捕获得很差。为了评估这些变异对基因表达变异的影响，我们探索了一个由323个来自26个天然Saccharomyces gallaeisolates的成对杂交的杂交种组成的半双杂交组。使用短读和长读测序策略，我们为该组建立了一个详尽的单核苷酸多态性（SNP）和SV目录。将该数据集与所有杂交种的转录组相结合，我们全面绘制了与基因表达变异相关的SNP和SV。虽然SV影响基因表达变异，但与常见变异相比，SNP表现出更高的效应量，低频变异的代表性过高。这些结果加强了解剖复杂性状的遗传力的重要性，在人口水平上的遗传变异的全面目录。
Unraveling the genetic sources of gene expression variation is essential to better understand the origins of phenotypic diversity in natural populations. Genome-wide association studies identified thousands of variants involved in gene expression variation, however, variants detected only explain part of the heritability. In fact, variants such as low-frequency and structural variants (SVs) are poorly captured in association studies. To assess the impact of these variants on gene expression variation, we explored a half-diallel panel composed of 323 hybrids originated from pairwise crosses of 26 naturalSaccharomyces cerevisiaeisolates. Using short- and long-read sequencing strategies, we established an exhaustive catalog of single nucleotide polymorphisms (SNPs) and SVs for this panel. Combining this dataset with the transcriptomes of all hybrids, we comprehensively mapped SNPs and SVs associated with gene expression variation. While SVs impact gene expression variation, SNPs exhibit a higher effect size with an overrepresentation of low-frequency variants compared to common ones. These results reinforce the importance of dissecting the heritability of complex traits with a comprehensive catalog of genetic variants at the population level.