Epigenetic Epidemiology
Epigenetic Epidemiology
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表观遗传流行病学
DOI：
10.1007/978-3-030-94475-9_8
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
John R
中科院分区：
文献类型：
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作者：
John R
基因组印记是一种显著的现象，通过这种现象，某些基因显示单等位基因表达依赖于它们的起源亲本。虽然印迹可能已经进化为胎生，并可能作为一种机制，以平衡哺乳动物的资源分配，功能性单倍体提出了一个明确的风险，以人类健康。表观遗传和遗传以及印迹位点的畸变都有助于基因组印迹疾病，如Beckwith-Wiedemann，Silver-Russell，Prader-Willi和Angelman综合征。除了这些有据可查的疾病之外，印记基因的组织特异性表达水平的变化可能对人类疾病有更广泛的影响。印迹基因的表达可以在单个基因水平、印迹结构域水平或通过印迹基因网络的变化而被破坏。重要的是，印记基因可以对产前逆境做出反应，导致基因表达的持续变化。因此，除了识别单个印记基因的功能外，重要的是要了解印记建立、维持和消除的机制，其中消除对于确保种系中表位突变的全面消除至关重要。我们回顾了基因组印记和印记人类疾病的关键方面，作为未来研究人类发育和疾病的表观遗传学的一个范例。
Genomic imprinting is a remarkable phenomenon through which certain genes show monoallelic expression depending on their parent of origin. While imprinting may have evolved for viviparity and potentially as a mechanism to balance resource allocation in mammals, functional haploidy presents a clear risk to human health. Both epigenetic and genetic and aberrations at imprinted loci contribute to genomic imprinting disorders, such as Beckwith–Wiedemann, Silver–Russell, Prader–Willi and Angelman syndromes. Beyond these well-documented disorders, changes in the tissue-specific expression levels of imprinted genes may contribute far more widely to human disease. The expression of imprinted genes can be disrupted at the level of a single gene, at the level of an imprinted domain or through changes in imprinted gene networks. Importantly, imprinted genes can respond to prenatal adversity leading to persistent changes in gene expression. Consequently, in addition to identifying the functions of individual imprinted genes, it is important to understand the mechanisms through which imprints are established, maintained and erased, with erasure critical to ensure comprehensive erasure of epimutations in the germline. We review the critical aspects of genomic imprinting and imprinted human diseases as a paradigm for future studies on epigenetics of human development and disease.