PDF(Pubmed)
Abstract：
Since its discovery in 1991, genomic imprinting has been the subject of numerous studies into its mechanisms of establishment and regulation, evolution and function, and presence in multiple genomes. Disturbance of imprinting has been implicated in a range of diseases, ranging from debilitating syndromes to cancers to fetal deficiencies. Despite this, studies done on the prevalence and relevance of imprinting on genes have been limited in scope, tissue types available, and focus, by both availability and resources. This has left a gap in comparative studies. To address this, we assembled a collection of imprinted genes available in current literature covering five species. Here we sought to identify trends and motifs in the imprinted gene set (IGS) in three distinct arenas: evolutionary conservation, across-tissue expression, and health phenomics. Overall, we found that imprinted genes displayed less conservation and higher proportions of non-coding RNA while maintaining synteny. Maternally expressed genes (MEGs) and paternally expressed genes (PEGs) occupied distinct roles in tissue expression and biological pathway use, while imprinted genes collectively showed a broader tissue range, notable preference for tissue specific expression and limited gene pathways than comparable sex differentiation genes. Both human and murine imprinted genes showed the same clear phenotypic trends, that were distinct from those displayed by sex differentiation genes which were less involved in mental and nervous system disease. While both sets had representation across the genome, the IGS showed clearer clustering as expected, with PEGs significantly more represented than MEGs.
摘要：
自1991年发现以来，基因组印迹一直是其建立和调节机制的众多研究主题，进化和功能，存在于多个基因组中。印记的干扰与一系列疾病有关，从衰弱综合征到癌症到胎儿缺陷。尽管如此,关于基因印记的普遍性和相关性的研究范围有限，可用的组织类型，和重点,可用性和资源。这在比较研究中留下了空白。为了解决这个问题，我们收集了当前文献中可用的印记基因，涵盖了五个物种。在这里，我们试图在三个不同的领域中识别印记基因集（IGS）中的趋势和基序：进化保守，跨组织表达，和健康表型组学。总的来说,我们发现,印迹基因在维持同质性的同时,表现出较少的保守性和较高比例的非编码RNA.母系表达基因(MEGs)和父系表达基因(PEGs)在组织表达和生物通路利用中占据不同的作用,虽然印迹基因共同显示出更广泛的组织范围，与可比的性别分化基因相比，明显偏爱组织特异性表达和有限的基因途径。人和鼠的印记基因都表现出相同的明显的表型趋势，与性别分化基因显示的不同，性别分化基因在精神和神经系统疾病中的参与较少。虽然两组都在基因组中具有代表性，IGS如预期的那样显示出更清晰的聚类，PEG的代表性明显高于MEG。
