University College Dublin School of Biology and Environmental Science, Belfield, Dublin 4, Ireland.
University College Dublin School of Veterinary Medicine, Belfield, Dublin 4, Ireland.
Anim Genet. 2022 Feb;53(1):108-118. doi: 10.1111/age.13148. Epub 2021 Oct 21.
Genomic imprinting occurs in therian mammals and is a phenomenon whereby the two alleles of a gene are differentially expressed, based on the sex of the parent from whom the alleles were inherited. The allelic differences in expression are the consequence of different epigenetic modifications that are established in the sperm or oocyte during gametogenesis and transmitted at fertilization to offspring. A small minority of genes is regulated in this way but they have important biological functions, and aberrant regulation of imprinted genes contributes to disease aetiology in humans and other animals. The factors driving the evolution of imprinted genes are also of considerable interest, as these genes appear to forego the benefits of diploidy. To broaden the phylogenetic analysis of genomic imprinting, we began a study of imprinted genes in the domestic dog, Canis familiaris. In this report, we show that canine IGF2 and H19 are imprinted, with parent-of origin-dependent monoallelic expression patterns in neonatal umbilical cord. We identify a putative imprint control region associated with the genes, and provide evidence for differential methylation of this region in a somatic tissue (umbilical cord) and for its hypermethylation in the male germline. Canis familiaris is fast becoming a highly informative system for elucidating disease processes and evolution, and the study of imprinted genes in this species may help in understanding how these genes contribute to the generation of morphological and behavioral diversity.
基因组印迹发生在有胎盘哺乳动物中,是一种现象,即基因的两个等位基因根据从父母一方继承等位基因的性别而表现出不同的表达。表达的等位基因差异是由于在配子发生过程中在精子或卵子中建立的不同表观遗传修饰,并在受精时传递给后代。一小部分基因以这种方式受到调控,但它们具有重要的生物学功能,印迹基因的异常调控导致人类和其他动物的疾病发病机制。驱动印迹基因进化的因素也引起了相当大的兴趣,因为这些基因似乎放弃了二倍体的好处。为了扩大基因组印迹的系统发育分析,我们开始研究家犬(Canis familiaris)中的印迹基因。在本报告中,我们表明犬 IGF2 和 H19 是印迹的,在新生儿脐带中有亲本来源依赖性的单等位基因表达模式。我们确定了与这些基因相关的一个推定的印迹控制区,并提供了该区域在体细胞组织(脐带)中差异甲基化及其在雄性生殖系中过度甲基化的证据。家犬正迅速成为阐明疾病过程和进化的高度信息系统,而在该物种中研究印迹基因可能有助于理解这些基因如何促成形态和行为多样性的产生。