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一个关于八种杂交猪长肌中 microRNAs 表达数量性状基因座的图谱。

An atlas of expression quantitative trait loci of microRNAs in longissimus muscle of eight-way crossbred pigs.

机构信息

State Key Laboratory for Pig Genetic Improvement and Production Technology, Jiangxi Agricultural University, Nanchang, Jiangxi 330045, China.

State Key Laboratory for Pig Genetic Improvement and Production Technology, Jiangxi Agricultural University, Nanchang, Jiangxi 330045, China.

出版信息

J Genet Genomics. 2023 Jun;50(6):398-409. doi: 10.1016/j.jgg.2023.02.007. Epub 2023 Feb 22.

Abstract

MicroRNAs (miRNAs) are key regulators of myocyte development and traits, yet insight into the genetic basis of variation in miRNA expression is still limited. Here, we present a systematic analysis of expression quantitative trait loci (eQTL) for miRNA profiling in longissimus muscle of pigs from an eight-breed crossed heterogeneous population. By integrating the whole-genome sequencing and miRNAomics data, we map 54 cis- and 292 trans-eQTLs at high resolution that are associated with the expression of 54 and 92 miRNAs, respectively. Twenty-three trans-acting loci are identified to affect the expression of nine myomiRs (known muscle-specific miRNAs). MiRNAs in mammalian conserved miRNA clusters are found to be subjected to regulation by shared cis-eQTLs, while the expression of mature miRNA-5p/-3p counterparts is more likely to be regulated by different cis-eQTLs. Fine mapping and bioinformatics analyses pinpoint the peak cis-eSNP of miR-4331-5p, rs344650810, which is located in its seed region, as a causal variant for the changes in expression and function of this miRNA. Additionally, rs344650810 is significantly (P < 0.01) correlated with the density and percentage of type I muscle fibers. Altogether, this study provides a comprehensive atlas of miRNA-eQTLs in porcine skeletal muscle and new insights into regulatory mechanisms of miRNA expression.

摘要

微小 RNA(miRNA)是肌细胞发育和特征的关键调节因子,但对 miRNA 表达变异的遗传基础的了解仍然有限。在这里,我们对来自 8 个杂交异质种群的猪长肌 miRNA 表达的数量性状基因座(eQTL)进行了系统分析。通过整合全基因组测序和 miRNA 组学数据,我们以高分辨率定位了 54 个顺式和 292 个反式 eQTL,分别与 54 和 92 个 miRNA 的表达相关。鉴定出 23 个反式作用位点影响 9 个肌源性 miRNA(已知的肌肉特异性 miRNA)的表达。发现哺乳动物保守 miRNA 簇中的 miRNA 受到共享顺式 eQTL 的调节,而成熟 miRNA-5p/-3p 对应物的表达更可能受到不同顺式 eQTL 的调节。精细映射和生物信息学分析确定 miR-4331-5p 的顺式 eSNP rs344650810 为该 miRNA 表达和功能变化的因果变异,该 SNP 位于其种子区域。此外,rs344650810 与 I 型肌纤维的密度和百分比显著相关(P < 0.01)。总的来说,这项研究提供了猪骨骼肌中 miRNA-eQTL 的综合图谱,并为 miRNA 表达的调控机制提供了新的见解。

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