Ahn Jinsoo, Hwang In-Sul, Park Mi-Ryung, Hwang Seongsoo, Lee Kichoon
Functional Genomics Laboratory, Department of Animal Sciences, The Ohio State University, Columbus, OH 43210, USA.
Animal Biotechnology Division, National Institute of Animal Science, Rural Development Administration, Wanju 55365, Korea.
Animals (Basel). 2021 May 3;11(5):1315. doi: 10.3390/ani11051315.
The epigenetic mechanisms underlying genomic imprinting include DNA methylation and monoallelic expression of genes in close proximity. Although genes imprinted in humans and mice have been widely characterized, there is a lack of detailed and comprehensive studies in livestock species including pigs. The purpose of this study was to investigate a detailed methylation status and parent-of-origin-specific gene expression within the genomic region containing an underexamined porcine locus. Through whole-genome bisulfite sequencing (WGBS) and RNA sequencing (RNA-seq) of porcine parthenogenetic embryos and analyses of public RNA-seq data from adult pigs, DNA methylation and monoallelic expression pattern were investigated. As a result, maternal hypermethylation at the locus and hypothalamus-specific and monoallelic expression of the gene were found in pigs. In conclusion, the findings from this study suggest that the presence of maternal hypermethylation, or imprints, might be maintained and related to monoallelic expression of during pig development.
基因组印记背后的表观遗传机制包括DNA甲基化和邻近基因的单等位基因表达。尽管人类和小鼠中印记的基因已得到广泛表征,但在包括猪在内的家畜物种中缺乏详细而全面的研究。本研究的目的是调查包含一个研究不足的猪基因座的基因组区域内的详细甲基化状态和源自亲本的特异性基因表达。通过对猪孤雌生殖胚胎进行全基因组亚硫酸氢盐测序(WGBS)和RNA测序(RNA-seq),并分析成年猪的公共RNA-seq数据,研究了DNA甲基化和单等位基因表达模式。结果发现,猪的该基因座存在母源高甲基化,且该基因在下丘脑特异性单等位基因表达。总之,本研究结果表明,母源高甲基化或印记可能在猪的发育过程中得以维持,并与该基因的单等位基因表达有关。