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25Mbp处的大型多效性数量性状位点（QTL），可对普通牛（Bos taurus）和瘤牛（Bos indicus）品种的诸多生长与发育性状产生调控作用。该QTL被归因于PLAG1与CHCHD7双向启动子区域的两个功能性变异；尽管PLAG1是介导上述效应的优质候选基因，但由于这些变异同时与该更广位点上另外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（RNAseq）数据集，对该区域开展了表达数量性状位点（eQTL）定位分析。结果表明，在先前已被关联的7个基因中，仅PLAG1与LYN的表达随QTL基因型呈现差异，且仅PLAG1呈现出与生长和体重QTL一致的关联特征。本研究同时首次报道了PLAG1基因型与泌乳性状的显著关联，涉及乳脂产量、产奶量及乳蛋白产量。综上，本研究数据证实PLAG1是介导该系列多样化生理QTL效应的因果基因，并揭示了该位点对泌乳表型的全新调控作用。