Gregg Christopher
University of Utah School of Medicine, Salt Lake City, UT, USA.
F1000Res. 2017 Dec 7;6:2108. doi: 10.12688/f1000research.11491.1. eCollection 2017.
Epigenetic mechanisms that cause maternally and paternally inherited alleles to be expressed differently in offspring have the potential to radically change our understanding of the mechanisms that shape disease susceptibility, phenotypic variation, cell fate, and gene expression. However, the nature and prevalence of these effects have been unclear and are debated. Here, I consider major new studies of epigenetic allelic effects in cell lines and primary cells and . The emerging picture is that these effects take on diverse forms, and this review attempts to clarify the nature of the different forms that have been uncovered for genomic imprinting and random monoallelic expression (RME). I also discuss apparent discrepancies between and studies. Importantly, multiple studies suggest that allelic effects are prevalent and can be developmental stage- and cell type-specific. I propose some possible functions and consider roles for allelic effects within the broader context of gene regulatory networks, cellular diversity, and plasticity. Overall, the field is ripe for discovery and is in need of mechanistic and functional studies.
导致母本和父本遗传的等位基因在后代中表现不同的表观遗传机制，有可能从根本上改变我们对塑造疾病易感性、表型变异、细胞命运和基因表达机制的理解。然而，这些效应的性质和普遍性尚不清楚，存在争议。在此，我考虑了细胞系和原代细胞中表观遗传等位基因效应的主要新研究。新出现的情况是，这些效应呈现出多种形式，本综述试图阐明已发现的基因组印记和随机单等位基因表达（RME）的不同形式的性质。我还讨论了[此处原文缺失相关信息]和[此处原文缺失相关信息]研究之间明显的差异。重要的是，多项研究表明等位基因效应普遍存在，并且可能具有发育阶段和细胞类型特异性。我提出了一些可能的功能，并在基因调控网络、细胞多样性和可塑性的更广泛背景下考虑等位基因效应的作用。总体而言，该领域已具备发现的条件，需要进行机制和功能研究。
