印记基因：发育中的重要调节因子

摘要

The imprintedgenes arecharacterized for theirallele-specific expression, whichpresenta unique phe-nomenon in the epigeneticand developmental studies. The field had dramatically progress in terms of establishment, maintainance and function of imprinted genes in organ development. The imprinting was primarily discovered in neuro-transplantation studies, and thereafter focused on a few well-known imprinted cluster. With increasing applica- tion of omics techniques, more imprinted genes were screened and identified, which drawn great attentions and dis-cussions by scientists in the field. One of wonderful example is peculiars extrapolation and debate of evolution-al conservation of imprinted genes based on the data analysis of the whole genome DNA methylome and histone modification.In thisreview,the current researchof imprinted genes in mammals weresummarized from the feature ofthegenes, the rolesin development, the mechanismof regulation, the advances of research methods, the evolution of parental relationship and theinteractionbetweenimprinted genes andenvironmentalfactors.This review will be helpful for general understanding and research approach of imprinted genes.%印记基因是一类单等位表达的基因，数量少但功能强大，构成了基因组印记这一表观遗传领域中的独特现象，来源于不同亲本的印记基因在个体发育过程中承担着不同的重要功能。除了印记基因状态的建立、保持，人们围绕印记基因在发育进程中的功能做了大量研究。印记基因最初在核移植研究中被发现，早期研究聚焦在个别基因簇上。随着组学技术的引入，更多的印记基因被筛选和鉴定出来，这也引起了该领域内的热烈讨论和关注。随着全基因组 DNA甲基化及组蛋白修饰等研究方法的发展，人们对印记基因的两个经典调控模型又提出新的看法和思考，尤其是最近的一些研究成果对于解释印记基因在哺乳动物中的高度保守性及其存在的意义具有重要启示。本文立足于最新研究进展，从印记基因的特征和基本规律、发育中的调控作用、机制、研究方法、进化以及环境对其影响等几个方面进行了综述，旨在为人们全面了解印记基因概况及研究趋势提供参考和指导。