Nolan C M, O'Sullivan F M, Brabazon D C, Callanan J J
School of Biology and Environmental Science, University College Dublin, Dublin, Ireland.
Reprod Domest Anim. 2009 Jul;44 Suppl 2:16-21. doi: 10.1111/j.1439-0531.2009.01387.x.
For the vast majority of mammalian genes, maternally- and paternally-derived alleles behave identically and are either expressed or repressed, regardless of whether they were inherited from egg or sperm. For imprinted genes, however, this is not the case. The alleles of imprinted genes are epigenetically modified in a parent-of-origin-specific manner and, as a consequence, maternally- and paternally-derived alleles behave differently. Typically one allele is expressed while the other is silent. Although relatively few in number, imprinted genes are the focus of intensive study, as they have important roles in embryonic development. Abnormal expression of imprinted genes results in growth disorders and is implicated in several clinical conditions. Most studies of imprinted genes have been performed in rodents or primates, with limited studies in other mammals such as bovine and opossum. We have recently demonstrated the existence of imprinted genes in the canine, by showing that the canine insulin-like growth factor 2 receptor gene (IGF2R) is monoallelically expressed, with predominant expression of the maternally-derived allele and repression of the paternally-inherited allele. Our ultimate goal is to characterize all imprinted genes in the canine, and to understand how they contribute to canine reproduction, development and disease. Such knowledge will be vital for optimizing the success of most reproductive strategies in the canine.
对于绝大多数哺乳动物基因而言,来自母本和父本的等位基因表现相同,无论它们是从卵子还是精子遗传而来,要么表达,要么受到抑制。然而,对于印记基因来说,情况并非如此。印记基因的等位基因以亲本来源特异性的方式进行表观遗传修饰,因此,来自母本和父本的等位基因表现不同。通常一个等位基因表达,而另一个沉默。尽管印记基因数量相对较少,但它们是深入研究的焦点,因为它们在胚胎发育中具有重要作用。印记基因的异常表达会导致生长紊乱,并与多种临床病症有关。大多数关于印记基因的研究是在啮齿动物或灵长类动物中进行的,在其他哺乳动物如牛和负鼠中的研究有限。我们最近通过证明犬胰岛素样生长因子2受体基因(IGF2R)单等位基因表达,且母本来源的等位基因占主导表达而父本遗传的等位基因受到抑制,证实了犬中存在印记基因。我们的最终目标是鉴定犬中的所有印记基因,并了解它们如何影响犬的繁殖、发育和疾病。这些知识对于优化犬的大多数繁殖策略的成功率至关重要。