Kadarmideen H N, Mazzoni G
Department of Bio and Health Informatics, Technical University of Denmark, Kemitorvet, Building 208, 2800 Kongens Lyngby, Denmark.
Reprod Fertil Dev. 2018 Jan;31(1):55-67. doi: 10.1071/RD18338.
In this paper we first provide a brief review of main results from our previously published studies on genome-wide gene expression (transcriptomics) in donor and recipient cattle used in invitro production (IVP) of embryos and embryo transfer (ET). Then, we present novel results from applying integrative systems genomics and biological analyses where transcriptomics data are combined with genomic data in both donor and recipient cattle to map expression quantitative trait loci (eQTLs). The eQTLs are genetic markers that can regulate or control the expression of genes in the entire genome, via complex molecular mechanisms, and thus can act as a powerful tool for genomic and gene-assisted selection. We identified significant eQTLs potentially controlling the expression of 13 candidate genes for donor cow quality (IVP parameters; e.g. cyclin B1 (CCNB1), outer dense fiber of sperm tails 2 like (ODF2L)) and 19 candidate genes for recipient cows quality (endometrial receptivity; e.g. ER membrane protein complex subunit 9 (EMC9), mannosidase beta (MANBA), peptidase inhibitor 16 (PI16)). Annotation and colocation of detected eQTLs show that some of the eQTLs are in the same genomic regions previously reported as QTLs for reproduction-related traits. However, eQTLs and the candidate genes identified should be further validated in larger populations before implementation as genetic markers or used in genomic selection for improving IVP and ET performance.
在本文中,我们首先简要回顾了我们之前发表的关于体外生产(IVP)胚胎和胚胎移植(ET)中供体和受体牛全基因组基因表达(转录组学)研究的主要结果。然后,我们展示了应用综合系统基因组学和生物学分析的新结果,其中将转录组学数据与供体和受体牛的基因组数据相结合,以绘制表达数量性状位点(eQTL)。eQTL是一种遗传标记,可通过复杂的分子机制调节或控制整个基因组中基因的表达,因此可作为基因组和基因辅助选择的有力工具。我们鉴定出了可能控制供体奶牛质量(IVP参数;例如细胞周期蛋白B1(CCNB1)、精子尾部外致密纤维样蛋白2(ODF2L))的13个候选基因以及受体奶牛质量(子宫内膜接受性;例如内质网膜蛋白复合物亚基9(EMC9)、β-甘露糖苷酶(MANBA)、肽酶抑制剂16(PI16))的19个候选基因表达的显著eQTL。对检测到的eQTL进行注释和共定位表明,一些eQTL位于先前报道的与繁殖相关性状的QTL所在的相同基因组区域。然而,所鉴定的eQTL和候选基因在作为遗传标记实施或用于基因组选择以改善IVP和ET性能之前,应在更大的群体中进一步验证。