Data from: Functional confirmation of PLAG1 as the candidate causative gene underlying major pleiotropic effects on body weight and milk characteristics

A major pleiotropic quantitative trait locus (QTL) located at ~25Mbp on bovine chromosome 14 affects a myriad of growth and developmental traits in Bos taurus and indicus breeds. These QTL have been attributed to two functional variants in the bidirectional promoter of PLAG1 and CHCHD7, and although PLAG1 is a good candidate for mediating these effects, its role remains uncertain given these variants are also associated with expression of five additional genes at the broader locus. In the current study, we conducted expression QTL (eQTL) mapping of this region using a large, high depth mammary RNAseq dataset representing 375 lactating cows. Here we show that of the seven previously implicated genes, only PLAG1 and LYN are differentially expressed by QTL genotype, and only PLAG1 bears the same association signature of the growth and body weight QTLs. For the first time, we also report significant association of PLAG1 genotype with milk production traits, including milk fat, volume, and protein yield. Collectively, these data confirm PLAG1 as the causative gene underlying this diverse range of physiological QTLs, and indicate new effects for the locus on lactation phenotypes.

位于牛14号染色体约25兆碱基对处的一个主要多效性数量性状基因座（QTL），可对普通牛（Bos taurus）和瘤牛（Bos indicus）品种的诸多生长发育性状产生影响。该QTL的效应可归因于PLAG1与CHCHD7双向启动子区域内的两个功能性变异位点；尽管PLAG1是介导这些效应的优良候选基因，但鉴于这些变异同时与该更广基因座区间内另外5个基因的表达相关联，其具体功能仍未明确。本研究利用涵盖375头泌乳奶牛的大型高深度乳腺RNA测序数据集，对该区域开展了表达数量性状基因座（eQTL）定位分析。结果显示，在先前被关联到该位点的7个基因中，仅PLAG1与LYN的表达水平因QTL基因型不同而存在显著差异，且仅PLAG1呈现出与生长和体重QTL一致的关联特征。本研究还首次报道了PLAG1基因型与泌乳生产性状的显著关联，涉及乳脂率、产奶量及乳蛋白产量。综上，本研究数据证实PLAG1是介导该类多样化生理QTL效应的因果基因，并揭示了该基因座在泌乳表型上的全新调控效应。