Genetics and Biotechnology Laboratory, Department of Biochemistry, University College Cork, Cork, Ireland.
Anim Genet. 2012 Oct;43(5):587-90. doi: 10.1111/j.1365-2052.2011.02292.x. Epub 2011 Dec 2.
Genomic imprinting is an epigenetic non-Mendelian phenomenon found predominantly in placental mammals. Imprinted genes display differential expression in the offspring depending on whether the gene is maternally or paternally inherited. Currently, some 100 imprinted genes have been reported in mammals, and while some of these genes are imprinted across most mammalian species, others have been shown to be imprinted in only a few species. The PHLDA2 gene that codes for a pleckstrin homology-like domain, family A (member 2), protein has to date been shown to be a maternally expressed imprinted gene in humans, mice and pigs. Genes subject to imprinting can have major effects on mammalian growth, development and disease. For instance, disruption of imprinted genes can lead to aberrant growth syndromes in cloned domestic mammals, and it has been demonstrated that PHLDA2 mRNA expression levels are aberrant in the placenta of somatic clones of cattle. In this study, we demonstrate that PHLDA2 is expressed across a range of cattle foetal tissues and stages and provide the first evidence that PHLDA2 is a monoallelically expressed imprinted gene in cattle foetal tissues, and also in the bovine placenta.
基因组印迹是一种主要存在于胎盘哺乳动物中的表观遗传非孟德尔现象。印迹基因在后代中表现出不同的表达,这取决于基因是来自母本还是父本。目前,在哺乳动物中已经报道了大约 100 个印迹基因,虽然其中一些基因在大多数哺乳动物物种中都被印迹,但其他基因则仅在少数物种中被印迹。编码pleckstrin 同源样结构域家族 A(成员 2)蛋白的 PHLDA2 基因迄今为止已被证明在人类、小鼠和猪中是一个母系表达的印迹基因。受印迹调控的基因对哺乳动物的生长、发育和疾病有重大影响。例如,印迹基因的破坏会导致克隆家畜生长异常综合征,并且已经证明在牛体细胞克隆的胎盘组织中 PHLDA2 mRNA 的表达水平异常。在这项研究中,我们证明了 PHLDA2 在一系列牛胎儿组织和阶段中表达,并首次提供证据表明 PHLDA2 是牛胎儿组织中,以及牛胎盘组织中的单等位基因印迹基因。