Department of Neuroscience and Brain Technologies - Istituto Italiano di Tecnologia, via Morego, 30, 16163, Genova, Italy.
MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, CF24 44H, UK.
Cell. 2019 Feb 21;176(5):952-965. doi: 10.1016/j.cell.2019.01.043.
Complex multicellular organisms, such as mammals, express two complete sets of chromosomes per nucleus, combining the genetic material of both parents. However, epigenetic studies have demonstrated violations to this rule that are necessary for mammalian physiology; the most notable parental allele expression phenomenon is genomic imprinting. With the identification of endogenous imprinted genes, genomic imprinting became well-established as an epigenetic mechanism in which the expression pattern of a parental allele influences phenotypic expression. The expanding study of genomic imprinting is revealing a significant impact on brain functions and associated diseases. Here, we review key milestones in the field of imprinting and discuss mechanisms and systems in which imprinted genes exert a significant role.
复杂的多细胞生物，如哺乳动物，每个细胞核中表达两套完整的染色体，结合了父母双方的遗传物质。然而，表观遗传学研究已经证明了违反这一规则的必要性，这是哺乳动物生理学所必需的；最显著的亲本等位基因表达现象是基因组印记。随着内源性印记基因的鉴定，基因组印记作为一种表观遗传机制得到了很好的确立，其中亲本等位基因的表达模式影响表型表达。对基因组印记的不断扩展的研究揭示了其对大脑功能和相关疾病的重要影响。在这里，我们回顾了印记领域的重要里程碑，并讨论了印迹基因发挥重要作用的机制和系统。
