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- 以及 - 对……自然种群中基因表达的调控作用 。 你提供的原文似乎不完整,可能会影响准确理解和完整翻译。

- and -regulatory Effects on Gene Expression in a Natural Population of .

作者信息

Osada Naoki, Miyagi Ryutaro, Takahashi Aya

机构信息

Department of Population Genetics, National Institute of Genetics, Mishima, Japan.

Department of Genetics, The Graduate University for Advanced Studies (SOKENDAI), 411-8540 Mishima, Japan.

出版信息

Genetics. 2017 Aug;206(4):2139-2148. doi: 10.1534/genetics.117.201459. Epub 2017 Jun 14.

Abstract
  • and -regulatory mutations are important contributors to transcriptome evolution. Quantifying their relative contributions to intraspecific variation in gene expression is essential for understanding the population genetic processes that underlie evolutionary changes in gene expression. Here, we have examined this issue by quantifying genome-wide, allele-specific expression (ASE) variation using a crossing scheme that produces F hybrids between 18 different strains sampled from the Genetic Reference Panel and a reference strain from another population. Head and body samples from F adult females were subjected to RNA sequencing and the subsequent ASE quantification. - and -regulatory effects on expression variation were estimated from these data. A higher proportion of genes showed significant -regulatory variation (∼28%) than those that showed significant -regulatory variation (∼9%). The sizes of -regulatory effects on expression variation were 1.98 and 1.88 times larger than -regulatory effects in heads and bodies, respectively. A generalized linear model analysis revealed that both - and -regulated expression variation was strongly associated with nonsynonymous nucleotide diversity and tissue specificity. Interestingly, -regulated variation showed a negative correlation with local recombination rate. Also, our analysis on proximal transposable element (TE) insertions suggested that they affect transcription levels of ovary-expressed genes more pronouncedly than genes not expressed in the ovary, possibly due to defense mechanisms against TE mobility in the germline. Collectively, our detailed quantification of ASE variations from a natural population has revealed a number of new relationships between genomic factors and the effects of - and -regulatory factors on expression variation.
摘要

顺式调控突变是转录组进化的重要贡献因素。量化它们对基因表达种内变异的相对贡献,对于理解基因表达进化变化背后的群体遗传过程至关重要。在这里,我们通过使用一种杂交方案来量化全基因组范围内的等位基因特异性表达(ASE)变异,从而研究了这个问题。该杂交方案在从遗传参考面板中采样的18个不同品系与另一个群体的参考品系之间产生F1杂种。对F1成年雌性的头部和身体样本进行RNA测序以及随后的ASE定量。从这些数据中估计顺式和反式调控对表达变异的影响。显示出显著顺式调控变异的基因比例(约28%)高于显示出显著反式调控变异的基因比例(约9%)。顺式调控对表达变异的影响大小分别比头部和身体中的反式调控影响大1.98倍和1.88倍。广义线性模型分析表明,顺式和反式调控的表达变异都与非同义核苷酸多样性和组织特异性密切相关。有趣的是,反式调控变异与局部重组率呈负相关。此外,我们对近端转座元件(TE)插入的分析表明,它们对卵巢表达基因转录水平的影响比对不在卵巢中表达的基因更为明显,这可能是由于种系中针对TE移动性的防御机制。总体而言,我们对自然群体中ASE变异的详细量化揭示了基因组因素与顺式和反式调控因素对表达变异影响之间的许多新关系。

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